Incidental Mutation 'R2258:Nrap'
| ID |
243593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrap
|
| Ensembl Gene |
ENSMUSG00000049134 |
| Gene Name |
nebulin-related anchoring protein |
| Synonyms |
|
| MMRRC Submission |
040258-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2258 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
56308473-56378466 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56310394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1534
(R1534G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132582
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040711]
[ENSMUST00000073536]
[ENSMUST00000078284]
[ENSMUST00000095947]
[ENSMUST00000095948]
[ENSMUST00000165522]
[ENSMUST00000166049]
[ENSMUST00000166203]
[ENSMUST00000167239]
|
| AlphaFold |
Q80XB4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040711
AA Change: R1535G
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048364
Gene: ENSMUSG00000049134
AA Change: R1535G
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
|
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
|
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
|
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
|
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
|
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
|
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
|
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
|
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
|
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
|
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
|
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
|
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
|
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
|
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
|
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
|
NEBU
|
932 |
962 |
4e-6 |
SMART |
|
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
|
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
|
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
|
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
|
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
|
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
|
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
|
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
|
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
|
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
|
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
|
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
|
NEBU
|
1385 |
1415 |
1.76e-2 |
SMART |
|
NEBU
|
1418 |
1448 |
2.09e0 |
SMART |
|
NEBU
|
1453 |
1483 |
6.4e-5 |
SMART |
|
NEBU
|
1489 |
1519 |
8.63e-1 |
SMART |
|
NEBU
|
1527 |
1557 |
1.33e-2 |
SMART |
|
NEBU
|
1562 |
1592 |
1.84e-5 |
SMART |
|
NEBU
|
1593 |
1623 |
7.24e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073536
AA Change: R1570G
PolyPhen 2
Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000073228
Gene: ENSMUSG00000049134
AA Change: R1570G
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
|
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
|
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
|
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
|
NEBU
|
520 |
550 |
1.73e-10 |
SMART |
|
NEBU
|
556 |
586 |
8.12e-7 |
SMART |
|
NEBU
|
590 |
620 |
1.73e-1 |
SMART |
|
NEBU
|
625 |
655 |
2.33e-7 |
SMART |
|
NEBU
|
656 |
686 |
1.49e-5 |
SMART |
|
NEBU
|
690 |
721 |
5.12e-4 |
SMART |
|
NEBU
|
724 |
754 |
8.12e-7 |
SMART |
|
NEBU
|
759 |
789 |
2.64e-6 |
SMART |
|
NEBU
|
795 |
825 |
3.48e-6 |
SMART |
|
NEBU
|
833 |
863 |
2.35e-3 |
SMART |
|
NEBU
|
868 |
898 |
6.11e-2 |
SMART |
|
NEBU
|
899 |
929 |
1.69e-4 |
SMART |
|
NEBU
|
934 |
964 |
3.88e-4 |
SMART |
|
NEBU
|
967 |
997 |
4e-6 |
SMART |
|
NEBU
|
1002 |
1032 |
4.22e-5 |
SMART |
|
NEBU
|
1038 |
1068 |
2.64e-6 |
SMART |
|
NEBU
|
1076 |
1106 |
3.68e-5 |
SMART |
|
NEBU
|
1111 |
1141 |
4.16e-4 |
SMART |
|
NEBU
|
1142 |
1172 |
1.1e-3 |
SMART |
|
NEBU
|
1177 |
1207 |
1.68e1 |
SMART |
|
NEBU
|
1210 |
1240 |
4.59e-6 |
SMART |
|
NEBU
|
1245 |
1275 |
4.06e-7 |
SMART |
|
NEBU
|
1281 |
1311 |
1.99e-1 |
SMART |
|
NEBU
|
1319 |
1349 |
1.85e-1 |
SMART |
|
NEBU
|
1354 |
1384 |
1.39e-5 |
SMART |
|
NEBU
|
1385 |
1415 |
4.03e-2 |
SMART |
|
NEBU
|
1420 |
1450 |
1.76e-2 |
SMART |
|
NEBU
|
1453 |
1483 |
2.09e0 |
SMART |
|
NEBU
|
1488 |
1518 |
6.4e-5 |
SMART |
|
NEBU
|
1524 |
1554 |
8.63e-1 |
SMART |
|
NEBU
|
1562 |
1592 |
1.33e-2 |
SMART |
|
NEBU
|
1597 |
1627 |
1.84e-5 |
SMART |
|
NEBU
|
1628 |
1658 |
7.24e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078284
|
| SMART Domains |
Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
EGF
|
70 |
103 |
4.66e-6 |
SMART |
|
EGF
|
108 |
142 |
3.97e0 |
SMART |
|
EGF
|
147 |
182 |
2.26e-4 |
SMART |
|
KR
|
186 |
272 |
2.72e-39 |
SMART |
|
Tryp_SPc
|
307 |
544 |
1.47e-90 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095947
AA Change: R1453G
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093640
Gene: ENSMUSG00000049134
AA Change: R1453G
| Domain | Start | End | E-Value | Type |
|---|
|
NEBU
|
86 |
115 |
1.2e-6 |
SMART |
|
NEBU
|
120 |
150 |
9.1e-8 |
SMART |
|
NEBU
|
157 |
186 |
1.4e-6 |
SMART |
|
NEBU
|
226 |
255 |
1.8e-8 |
SMART |
|
NEBU
|
264 |
294 |
2.5e-5 |
SMART |
|
NEBU
|
300 |
330 |
7.8e-6 |
SMART |
|
NEBU
|
368 |
398 |
6e-11 |
SMART |
|
NEBU
|
403 |
433 |
1.1e-12 |
SMART |
|
NEBU
|
439 |
469 |
5.2e-9 |
SMART |
|
NEBU
|
473 |
503 |
1.1e-3 |
SMART |
|
NEBU
|
508 |
538 |
1.5e-9 |
SMART |
|
NEBU
|
539 |
569 |
1e-7 |
SMART |
|
NEBU
|
573 |
604 |
3.3e-6 |
SMART |
|
NEBU
|
607 |
637 |
5.4e-9 |
SMART |
|
NEBU
|
642 |
672 |
1.7e-8 |
SMART |
|
NEBU
|
678 |
708 |
2.3e-8 |
SMART |
|
NEBU
|
716 |
746 |
1.5e-5 |
SMART |
|
NEBU
|
751 |
781 |
4.1e-4 |
SMART |
|
NEBU
|
782 |
812 |
1.1e-6 |
SMART |
|
NEBU
|
817 |
847 |
2.6e-6 |
SMART |
|
NEBU
|
850 |
880 |
2.6e-8 |
SMART |
|
NEBU
|
885 |
915 |
2.7e-7 |
SMART |
|
NEBU
|
921 |
951 |
1.7e-8 |
SMART |
|
NEBU
|
959 |
989 |
2.4e-7 |
SMART |
|
NEBU
|
994 |
1024 |
2.7e-6 |
SMART |
|
NEBU
|
1025 |
1055 |
7.2e-6 |
SMART |
|
NEBU
|
1060 |
1090 |
1.1e-1 |
SMART |
|
NEBU
|
1093 |
1123 |
3e-8 |
SMART |
|
NEBU
|
1128 |
1158 |
2.6e-9 |
SMART |
|
NEBU
|
1164 |
1194 |
1.3e-3 |
SMART |
|
NEBU
|
1202 |
1232 |
1.2e-3 |
SMART |
|
NEBU
|
1237 |
1267 |
8.8e-8 |
SMART |
|
NEBU
|
1268 |
1298 |
2.7e-4 |
SMART |
|
NEBU
|
1303 |
1333 |
1.2e-4 |
SMART |
|
NEBU
|
1336 |
1366 |
1.4e-2 |
SMART |
|
NEBU
|
1371 |
1401 |
4.3e-7 |
SMART |
|
NEBU
|
1407 |
1437 |
5.6e-3 |
SMART |
|
NEBU
|
1445 |
1475 |
8.8e-5 |
SMART |
|
NEBU
|
1480 |
1510 |
1.2e-7 |
SMART |
|
NEBU
|
1511 |
1541 |
4.8e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095948
|
| SMART Domains |
Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
EGF
|
33 |
66 |
4.66e-6 |
SMART |
|
EGF
|
71 |
105 |
3.97e0 |
SMART |
|
EGF
|
110 |
145 |
2.26e-4 |
SMART |
|
KR
|
149 |
235 |
2.72e-39 |
SMART |
|
Tryp_SPc
|
270 |
507 |
1.47e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165522
|
| SMART Domains |
Protein: ENSMUSP00000130809
Gene: ENSMUSG00000025075
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trypsin
|
41 |
106 |
6.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166049
|
| SMART Domains |
Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
28 |
42 |
N/A |
INTRINSIC |
|
EGF
|
70 |
103 |
4.66e-6 |
SMART |
|
EGF
|
108 |
142 |
3.97e0 |
SMART |
|
EGF
|
147 |
182 |
2.26e-4 |
SMART |
|
KR
|
186 |
272 |
2.72e-39 |
SMART |
|
Tryp_SPc
|
302 |
539 |
1.47e-90 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166203
AA Change: R1534G
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132582
Gene: ENSMUSG00000049134
AA Change: R1534G
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
7.24e-4 |
SMART |
|
NEBU
|
381 |
411 |
3.46e-1 |
SMART |
|
NEBU
|
417 |
447 |
1.18e-3 |
SMART |
|
NEBU
|
485 |
515 |
8.97e-9 |
SMART |
|
NEBU
|
520 |
550 |
1.06e-10 |
SMART |
|
NEBU
|
554 |
584 |
1.73e-1 |
SMART |
|
NEBU
|
589 |
619 |
2.33e-7 |
SMART |
|
NEBU
|
620 |
650 |
1.49e-5 |
SMART |
|
NEBU
|
654 |
685 |
5.12e-4 |
SMART |
|
NEBU
|
688 |
718 |
8.12e-7 |
SMART |
|
NEBU
|
723 |
753 |
2.64e-6 |
SMART |
|
NEBU
|
759 |
789 |
3.48e-6 |
SMART |
|
NEBU
|
797 |
827 |
2.35e-3 |
SMART |
|
NEBU
|
832 |
862 |
6.11e-2 |
SMART |
|
NEBU
|
863 |
893 |
1.69e-4 |
SMART |
|
NEBU
|
898 |
928 |
3.88e-4 |
SMART |
|
NEBU
|
931 |
961 |
4e-6 |
SMART |
|
NEBU
|
966 |
996 |
4.22e-5 |
SMART |
|
NEBU
|
1002 |
1032 |
2.64e-6 |
SMART |
|
NEBU
|
1040 |
1070 |
3.68e-5 |
SMART |
|
NEBU
|
1075 |
1105 |
4.16e-4 |
SMART |
|
NEBU
|
1106 |
1136 |
1.1e-3 |
SMART |
|
NEBU
|
1141 |
1171 |
1.68e1 |
SMART |
|
NEBU
|
1174 |
1204 |
4.59e-6 |
SMART |
|
NEBU
|
1209 |
1239 |
4.06e-7 |
SMART |
|
NEBU
|
1245 |
1275 |
1.99e-1 |
SMART |
|
NEBU
|
1283 |
1313 |
1.85e-1 |
SMART |
|
NEBU
|
1318 |
1348 |
1.39e-5 |
SMART |
|
NEBU
|
1349 |
1379 |
4.03e-2 |
SMART |
|
NEBU
|
1384 |
1414 |
1.76e-2 |
SMART |
|
NEBU
|
1417 |
1447 |
2.09e0 |
SMART |
|
NEBU
|
1452 |
1482 |
6.4e-5 |
SMART |
|
NEBU
|
1488 |
1518 |
8.63e-1 |
SMART |
|
NEBU
|
1526 |
1556 |
1.33e-2 |
SMART |
|
NEBU
|
1561 |
1591 |
1.84e-5 |
SMART |
|
NEBU
|
1592 |
1622 |
7.24e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169099
|
| SMART Domains |
Protein: ENSMUSP00000125889
Gene: ENSMUSG00000049134
| Domain | Start | End | E-Value | Type |
|---|
|
NEBU
|
32 |
61 |
2.83e-6 |
SMART |
|
NEBU
|
70 |
100 |
7.24e-4 |
SMART |
|
NEBU
|
105 |
135 |
3.46e-1 |
SMART |
|
NEBU
|
141 |
171 |
1.18e-3 |
SMART |
|
NEBU
|
209 |
239 |
8.97e-9 |
SMART |
|
NEBU
|
244 |
274 |
1.73e-10 |
SMART |
|
NEBU
|
280 |
310 |
8.12e-7 |
SMART |
|
NEBU
|
314 |
344 |
1.73e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167239
|
| SMART Domains |
Protein: ENSMUSP00000128196
Gene: ENSMUSG00000049134
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
5 |
57 |
5.39e-11 |
SMART |
|
NEBU
|
64 |
94 |
2.17e1 |
SMART |
|
NEBU
|
168 |
197 |
1.94e-4 |
SMART |
|
NEBU
|
202 |
232 |
1.39e-5 |
SMART |
|
NEBU
|
239 |
268 |
2.23e-4 |
SMART |
|
NEBU
|
308 |
337 |
2.83e-6 |
SMART |
|
NEBU
|
346 |
376 |
3.82e-3 |
SMART |
|
NEBU
|
382 |
412 |
1.18e-3 |
SMART |
|
NEBU
|
450 |
480 |
8.97e-9 |
SMART |
|
NEBU
|
485 |
515 |
1.73e-10 |
SMART |
|
NEBU
|
521 |
551 |
8.12e-7 |
SMART |
|
NEBU
|
555 |
585 |
1.73e-1 |
SMART |
|
NEBU
|
590 |
620 |
2.33e-7 |
SMART |
|
NEBU
|
621 |
651 |
1.49e-5 |
SMART |
|
NEBU
|
655 |
686 |
5.12e-4 |
SMART |
|
NEBU
|
689 |
719 |
8.12e-7 |
SMART |
|
NEBU
|
724 |
754 |
2.64e-6 |
SMART |
|
NEBU
|
760 |
790 |
3.48e-6 |
SMART |
|
NEBU
|
798 |
828 |
2.35e-3 |
SMART |
|
NEBU
|
833 |
863 |
6.11e-2 |
SMART |
|
NEBU
|
864 |
894 |
1.69e-4 |
SMART |
|
NEBU
|
899 |
929 |
3.88e-4 |
SMART |
|
NEBU
|
932 |
962 |
4e-6 |
SMART |
|
NEBU
|
967 |
997 |
4.22e-5 |
SMART |
|
NEBU
|
1003 |
1033 |
2.64e-6 |
SMART |
|
NEBU
|
1041 |
1071 |
3.68e-5 |
SMART |
|
NEBU
|
1076 |
1106 |
4.16e-4 |
SMART |
|
NEBU
|
1107 |
1137 |
1.1e-3 |
SMART |
|
NEBU
|
1142 |
1172 |
1.68e1 |
SMART |
|
NEBU
|
1175 |
1205 |
4.59e-6 |
SMART |
|
NEBU
|
1210 |
1240 |
4.06e-7 |
SMART |
|
NEBU
|
1246 |
1276 |
1.99e-1 |
SMART |
|
NEBU
|
1284 |
1314 |
1.85e-1 |
SMART |
|
NEBU
|
1319 |
1349 |
1.39e-5 |
SMART |
|
NEBU
|
1350 |
1380 |
4.03e-2 |
SMART |
|
NEBU
|
1385 |
1415 |
3.06e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
T |
C |
3: 124,207,267 (GRCm39) |
N308S |
possibly damaging |
Het |
| Acot5 |
A |
T |
12: 84,122,643 (GRCm39) |
H409L |
possibly damaging |
Het |
| Ang4 |
A |
G |
14: 52,001,955 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,556,966 (GRCm39) |
S315P |
probably benign |
Het |
| Arhgap15 |
G |
A |
2: 44,276,359 (GRCm39) |
G437R |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,562,287 (GRCm39) |
C810R |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,785,082 (GRCm39) |
W131R |
probably damaging |
Het |
| Ccnj |
A |
G |
19: 40,834,277 (GRCm39) |
Q292R |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,455,661 (GRCm39) |
V287A |
possibly damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,895,059 (GRCm39) |
L268P |
probably damaging |
Het |
| Cfap251 |
C |
G |
5: 123,421,411 (GRCm39) |
|
probably null |
Het |
| Clrn2 |
A |
G |
5: 45,611,304 (GRCm39) |
D51G |
probably benign |
Het |
| Cntd1 |
T |
C |
11: 101,175,682 (GRCm39) |
S174P |
probably damaging |
Het |
| Col11a2 |
A |
G |
17: 34,258,651 (GRCm39) |
H8R |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,669,816 (GRCm39) |
|
probably null |
Het |
| Cyp2a5 |
A |
G |
7: 26,536,528 (GRCm39) |
D169G |
possibly damaging |
Het |
| Cyp2c37 |
A |
G |
19: 39,984,303 (GRCm39) |
I264V |
possibly damaging |
Het |
| Cyp2j12 |
A |
G |
4: 96,021,315 (GRCm39) |
I97T |
probably damaging |
Het |
| Dipk1b |
T |
C |
2: 26,525,162 (GRCm39) |
L157P |
probably damaging |
Het |
| Eif3b |
T |
C |
5: 140,413,258 (GRCm39) |
F354L |
possibly damaging |
Het |
| Eif4a3l1 |
A |
T |
6: 136,305,559 (GRCm39) |
M7L |
probably benign |
Het |
| Entpd2 |
C |
T |
2: 25,288,099 (GRCm39) |
P108S |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,019,750 (GRCm39) |
S742T |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,776,124 (GRCm39) |
|
probably benign |
Het |
| Fam43b |
G |
C |
4: 138,122,409 (GRCm39) |
R304G |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,438,665 (GRCm39) |
W186* |
probably null |
Het |
| Fndc3b |
G |
T |
3: 27,494,309 (GRCm39) |
Q939K |
possibly damaging |
Het |
| Gja4 |
C |
A |
4: 127,206,623 (GRCm39) |
D47Y |
probably damaging |
Het |
| Gm11565 |
T |
G |
11: 99,805,844 (GRCm39) |
C79G |
possibly damaging |
Het |
| Gpbar1 |
T |
C |
1: 74,318,164 (GRCm39) |
F136L |
probably benign |
Het |
| Gsn |
G |
A |
2: 35,180,349 (GRCm39) |
G130E |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,490,723 (GRCm39) |
D756E |
probably benign |
Het |
| Hrc |
C |
A |
7: 44,986,105 (GRCm39) |
R419S |
possibly damaging |
Het |
| Inpp4a |
T |
A |
1: 37,416,777 (GRCm39) |
S433T |
probably damaging |
Het |
| Ism2 |
C |
A |
12: 87,326,848 (GRCm39) |
V320L |
possibly damaging |
Het |
| Krt8 |
G |
T |
15: 101,907,257 (GRCm39) |
D275E |
probably benign |
Het |
| Lgalsl2 |
A |
G |
7: 5,362,401 (GRCm39) |
M11V |
probably benign |
Het |
| Lyg2 |
A |
C |
1: 37,948,077 (GRCm39) |
N132K |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,812,243 (GRCm39) |
R885Q |
probably benign |
Het |
| Marveld2 |
A |
G |
13: 100,748,978 (GRCm39) |
S34P |
probably benign |
Het |
| Mcc |
C |
A |
18: 44,608,203 (GRCm39) |
G355W |
probably damaging |
Het |
| Mllt6 |
T |
C |
11: 97,555,802 (GRCm39) |
V44A |
probably damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,842 (GRCm39) |
M28K |
probably benign |
Het |
| Ms4a15 |
A |
G |
19: 10,962,159 (GRCm39) |
C47R |
probably benign |
Het |
| Muc5ac |
A |
G |
7: 141,344,745 (GRCm39) |
N72S |
probably benign |
Het |
| Myo18b |
C |
T |
5: 113,022,529 (GRCm39) |
|
probably benign |
Het |
| Nat8f4 |
A |
T |
6: 85,878,207 (GRCm39) |
H105Q |
possibly damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,967,368 (GRCm39) |
D568G |
probably benign |
Het |
| Nptx1 |
T |
G |
11: 119,434,142 (GRCm39) |
I315L |
probably benign |
Het |
| Nwd2 |
C |
A |
5: 63,962,499 (GRCm39) |
N694K |
probably benign |
Het |
| Oas1c |
G |
A |
5: 120,941,082 (GRCm39) |
A35V |
probably null |
Het |
| Or2d3b |
A |
G |
7: 106,514,113 (GRCm39) |
K236R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,022 (GRCm39) |
I11F |
probably damaging |
Het |
| Or5p58 |
C |
T |
7: 107,694,402 (GRCm39) |
R125H |
possibly damaging |
Het |
| Or8d1b |
T |
C |
9: 38,887,296 (GRCm39) |
V108A |
probably benign |
Het |
| Pate8 |
C |
A |
9: 36,493,161 (GRCm39) |
V54L |
probably benign |
Het |
| Pde2a |
A |
T |
7: 101,133,774 (GRCm39) |
D85V |
probably damaging |
Het |
| Plaat5 |
C |
T |
19: 7,590,111 (GRCm39) |
R46C |
probably damaging |
Het |
| Polr1f |
A |
G |
12: 33,483,587 (GRCm39) |
H113R |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,429,077 (GRCm39) |
V839I |
probably benign |
Het |
| Psmd3 |
T |
A |
11: 98,581,790 (GRCm39) |
M305K |
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,840,172 (GRCm39) |
S1054P |
probably benign |
Het |
| Rhox13 |
G |
C |
X: 37,210,221 (GRCm39) |
E19Q |
unknown |
Het |
| Ryr2 |
A |
G |
13: 11,753,102 (GRCm39) |
F1740L |
possibly damaging |
Het |
| Sox1 |
C |
A |
8: 12,446,927 (GRCm39) |
N189K |
possibly damaging |
Het |
| Spta1 |
C |
A |
1: 174,001,907 (GRCm39) |
S12R |
possibly damaging |
Het |
| Stard13 |
A |
G |
5: 150,963,196 (GRCm39) |
L971P |
probably damaging |
Het |
| Tigd4 |
T |
A |
3: 84,501,600 (GRCm39) |
N172K |
probably benign |
Het |
| Tmt1a |
A |
T |
15: 100,211,049 (GRCm39) |
I174F |
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,131,183 (GRCm39) |
V218A |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,625 (GRCm39) |
M237K |
probably benign |
Het |
| Vldlr |
A |
G |
19: 27,215,786 (GRCm39) |
D220G |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,861,142 (GRCm39) |
N2891S |
probably benign |
Het |
| Wdr25 |
T |
A |
12: 108,864,100 (GRCm39) |
S82T |
possibly damaging |
Het |
| Wnk4 |
C |
A |
11: 101,165,861 (GRCm39) |
P796Q |
probably damaging |
Het |
| Xpo5 |
C |
T |
17: 46,551,822 (GRCm39) |
Q1050* |
probably null |
Het |
| Zc3h15 |
G |
A |
2: 83,487,360 (GRCm39) |
V60I |
probably benign |
Het |
| Zfp629 |
G |
A |
7: 127,210,963 (GRCm39) |
T282M |
probably damaging |
Het |
| Zscan22 |
T |
G |
7: 12,637,887 (GRCm39) |
V93G |
probably damaging |
Het |
|
| Other mutations in Nrap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Nrap
|
APN |
19 |
56,361,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00570:Nrap
|
APN |
19 |
56,326,545 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00946:Nrap
|
APN |
19 |
56,329,058 (GRCm39) |
splice site |
probably null |
|
|
IGL01070:Nrap
|
APN |
19 |
56,317,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01111:Nrap
|
APN |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Nrap
|
APN |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01290:Nrap
|
APN |
19 |
56,350,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01352:Nrap
|
APN |
19 |
56,368,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01372:Nrap
|
APN |
19 |
56,317,534 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01395:Nrap
|
APN |
19 |
56,350,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01413:Nrap
|
APN |
19 |
56,377,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01734:Nrap
|
APN |
19 |
56,338,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01933:Nrap
|
APN |
19 |
56,377,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Nrap
|
APN |
19 |
56,309,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:Nrap
|
APN |
19 |
56,370,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02447:Nrap
|
APN |
19 |
56,333,951 (GRCm39) |
nonsense |
probably null |
|
|
IGL02864:Nrap
|
APN |
19 |
56,338,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02993:Nrap
|
APN |
19 |
56,333,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Nrap
|
APN |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Nrap
|
APN |
19 |
56,335,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03084:Nrap
|
APN |
19 |
56,353,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03136:Nrap
|
APN |
19 |
56,330,687 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03272:Nrap
|
APN |
19 |
56,334,000 (GRCm39) |
intron |
probably benign |
|
|
IGL03389:Nrap
|
APN |
19 |
56,340,148 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0116:Nrap
|
UTSW |
19 |
56,343,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Nrap
|
UTSW |
19 |
56,340,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0715:Nrap
|
UTSW |
19 |
56,345,757 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0828:Nrap
|
UTSW |
19 |
56,333,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Nrap
|
UTSW |
19 |
56,333,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Nrap
|
UTSW |
19 |
56,315,725 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1459:Nrap
|
UTSW |
19 |
56,372,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1616:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Nrap
|
UTSW |
19 |
56,323,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1687:Nrap
|
UTSW |
19 |
56,343,961 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Nrap
|
UTSW |
19 |
56,323,474 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1792:Nrap
|
UTSW |
19 |
56,367,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Nrap
|
UTSW |
19 |
56,372,487 (GRCm39) |
unclassified |
probably benign |
|
|
R1972:Nrap
|
UTSW |
19 |
56,345,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Nrap
|
UTSW |
19 |
56,372,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2448:Nrap
|
UTSW |
19 |
56,310,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3034:Nrap
|
UTSW |
19 |
56,352,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3801:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Nrap
|
UTSW |
19 |
56,310,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Nrap
|
UTSW |
19 |
56,368,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3964:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3965:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3966:Nrap
|
UTSW |
19 |
56,330,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Nrap
|
UTSW |
19 |
56,369,984 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4182:Nrap
|
UTSW |
19 |
56,338,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4499:Nrap
|
UTSW |
19 |
56,339,913 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4573:Nrap
|
UTSW |
19 |
56,330,770 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4603:Nrap
|
UTSW |
19 |
56,323,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4689:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4749:Nrap
|
UTSW |
19 |
56,368,669 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4845:Nrap
|
UTSW |
19 |
56,339,902 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4937:Nrap
|
UTSW |
19 |
56,335,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Nrap
|
UTSW |
19 |
56,366,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5156:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5181:Nrap
|
UTSW |
19 |
56,333,960 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5202:Nrap
|
UTSW |
19 |
56,323,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5262:Nrap
|
UTSW |
19 |
56,308,655 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5301:Nrap
|
UTSW |
19 |
56,367,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Nrap
|
UTSW |
19 |
56,370,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5576:Nrap
|
UTSW |
19 |
56,310,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5631:Nrap
|
UTSW |
19 |
56,342,553 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5754:Nrap
|
UTSW |
19 |
56,377,916 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5799:Nrap
|
UTSW |
19 |
56,330,601 (GRCm39) |
nonsense |
probably null |
|
|
R5899:Nrap
|
UTSW |
19 |
56,329,006 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5910:Nrap
|
UTSW |
19 |
56,330,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5994:Nrap
|
UTSW |
19 |
56,340,031 (GRCm39) |
nonsense |
probably null |
|
|
R6124:Nrap
|
UTSW |
19 |
56,374,458 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6149:Nrap
|
UTSW |
19 |
56,377,885 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6182:Nrap
|
UTSW |
19 |
56,350,130 (GRCm39) |
missense |
probably benign |
|
|
R6245:Nrap
|
UTSW |
19 |
56,368,307 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6245:Nrap
|
UTSW |
19 |
56,342,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Nrap
|
UTSW |
19 |
56,308,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6274:Nrap
|
UTSW |
19 |
56,350,153 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6340:Nrap
|
UTSW |
19 |
56,335,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6547:Nrap
|
UTSW |
19 |
56,339,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6734:Nrap
|
UTSW |
19 |
56,333,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6770:Nrap
|
UTSW |
19 |
56,370,969 (GRCm39) |
splice site |
probably null |
|
|
R6812:Nrap
|
UTSW |
19 |
56,340,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Nrap
|
UTSW |
19 |
56,368,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7207:Nrap
|
UTSW |
19 |
56,333,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7214:Nrap
|
UTSW |
19 |
56,366,567 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7313:Nrap
|
UTSW |
19 |
56,330,700 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7515:Nrap
|
UTSW |
19 |
56,354,859 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7662:Nrap
|
UTSW |
19 |
56,308,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7819:Nrap
|
UTSW |
19 |
56,323,720 (GRCm39) |
missense |
probably benign |
|
|
R7836:Nrap
|
UTSW |
19 |
56,338,729 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7895:Nrap
|
UTSW |
19 |
56,342,584 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8041:Nrap
|
UTSW |
19 |
56,352,768 (GRCm39) |
nonsense |
probably null |
|
|
R8046:Nrap
|
UTSW |
19 |
56,308,683 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8066:Nrap
|
UTSW |
19 |
56,342,562 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8129:Nrap
|
UTSW |
19 |
56,355,068 (GRCm39) |
splice site |
probably null |
|
|
R8188:Nrap
|
UTSW |
19 |
56,325,010 (GRCm39) |
nonsense |
probably null |
|
|
R8323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8353:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Nrap
|
UTSW |
19 |
56,312,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Nrap
|
UTSW |
19 |
56,310,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8703:Nrap
|
UTSW |
19 |
56,323,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Nrap
|
UTSW |
19 |
56,352,843 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R8872:Nrap
|
UTSW |
19 |
56,308,627 (GRCm39) |
makesense |
probably null |
|
|
R8980:Nrap
|
UTSW |
19 |
56,343,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9201:Nrap
|
UTSW |
19 |
56,340,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9229:Nrap
|
UTSW |
19 |
56,310,339 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9235:Nrap
|
UTSW |
19 |
56,330,760 (GRCm39) |
nonsense |
probably null |
|
|
R9323:Nrap
|
UTSW |
19 |
56,378,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9327:Nrap
|
UTSW |
19 |
56,340,100 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9329:Nrap
|
UTSW |
19 |
56,350,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9468:Nrap
|
UTSW |
19 |
56,330,632 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9517:Nrap
|
UTSW |
19 |
56,360,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9639:Nrap
|
UTSW |
19 |
56,333,948 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9657:Nrap
|
UTSW |
19 |
56,352,377 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9709:Nrap
|
UTSW |
19 |
56,317,453 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9709:Nrap
|
UTSW |
19 |
56,317,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0028:Nrap
|
UTSW |
19 |
56,323,652 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Nrap
|
UTSW |
19 |
56,333,949 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Nrap
|
UTSW |
19 |
56,333,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Nrap
|
UTSW |
19 |
56,326,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCAGCTGATGGGCTTTC -3'
(R):5'- CTGTTGATCAAGCTTCCTGC -3'
Sequencing Primer
(F):5'- TTCCGGGCATGCTTCAG -3'
(R):5'- CTTCCTGCTGAAGTCCTGGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation