Incidental Mutation 'R4749:Nrap'
ID |
357450 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrap
|
Ensembl Gene |
ENSMUSG00000049134 |
Gene Name |
nebulin-related anchoring protein |
Synonyms |
|
MMRRC Submission |
041969-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4749 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
56308473-56378466 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56368669 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 249
(I249T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128196
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040711]
[ENSMUST00000073536]
[ENSMUST00000095947]
[ENSMUST00000166203]
[ENSMUST00000167239]
|
AlphaFold |
Q80XB4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040711
AA Change: I249T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000048364 Gene: ENSMUSG00000049134 AA Change: I249T
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: I249T
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000073228 Gene: ENSMUSG00000049134 AA Change: I249T
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 |
possibly damaging
Transcript: ENSMUST00000095947
AA Change: I167T
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000093640 Gene: ENSMUSG00000049134 AA Change: I167T
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 |
possibly damaging
Transcript: ENSMUST00000166203
AA Change: I249T
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000132582 Gene: ENSMUSG00000049134 AA Change: I249T
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 damaging
Transcript: ENSMUST00000167239
AA Change: I249T
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128196 Gene: ENSMUSG00000049134 AA Change: I249T
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 |
|
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 93 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
A |
T |
19: 57,204,153 (GRCm39) |
D79E |
probably benign |
Het |
Adgra2 |
A |
G |
8: 27,604,225 (GRCm39) |
K472E |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,018,737 (GRCm39) |
D1106G |
probably benign |
Het |
Arhgap35 |
T |
C |
7: 16,232,551 (GRCm39) |
E1367G |
possibly damaging |
Het |
Arsi |
A |
T |
18: 61,050,533 (GRCm39) |
Y472F |
probably benign |
Het |
Asxl3 |
A |
G |
18: 22,649,826 (GRCm39) |
D605G |
probably damaging |
Het |
Atp6v1e2 |
C |
T |
17: 87,252,135 (GRCm39) |
D88N |
probably benign |
Het |
BC061237 |
T |
A |
14: 44,743,469 (GRCm39) |
V169E |
probably damaging |
Het |
C1galt1 |
A |
G |
6: 7,866,379 (GRCm39) |
E75G |
probably benign |
Het |
C9 |
G |
A |
15: 6,519,311 (GRCm39) |
V383I |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,432,720 (GRCm39) |
K222R |
probably benign |
Het |
Ccna2 |
T |
C |
3: 36,620,391 (GRCm39) |
S421G |
probably benign |
Het |
Cflar |
T |
G |
1: 58,779,431 (GRCm39) |
V229G |
possibly damaging |
Het |
Clcn1 |
A |
G |
6: 42,267,131 (GRCm39) |
|
probably null |
Het |
Col14a1 |
T |
A |
15: 55,315,732 (GRCm39) |
F1342L |
unknown |
Het |
Colq |
C |
T |
14: 31,251,472 (GRCm39) |
R313H |
possibly damaging |
Het |
Coro6 |
A |
G |
11: 77,359,974 (GRCm39) |
E345G |
probably damaging |
Het |
Cracd |
T |
C |
5: 77,006,681 (GRCm39) |
V1014A |
unknown |
Het |
Cyb561 |
A |
G |
11: 105,826,708 (GRCm39) |
F182L |
probably benign |
Het |
Dap3 |
A |
G |
3: 88,833,617 (GRCm39) |
S317P |
probably benign |
Het |
Dnah9 |
G |
A |
11: 65,724,941 (GRCm39) |
A4404V |
probably damaging |
Het |
Dsg4 |
A |
G |
18: 20,579,888 (GRCm39) |
E31G |
possibly damaging |
Het |
Dsn1 |
G |
A |
2: 156,843,660 (GRCm39) |
L147F |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,043,990 (GRCm39) |
V277A |
probably damaging |
Het |
Eprs1 |
T |
A |
1: 185,128,327 (GRCm39) |
I569K |
probably damaging |
Het |
Erg |
T |
C |
16: 95,162,029 (GRCm39) |
N342S |
probably damaging |
Het |
Fam114a1 |
G |
A |
5: 65,166,409 (GRCm39) |
D247N |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,202,294 (GRCm39) |
V260A |
probably benign |
Het |
Foxn4 |
T |
C |
5: 114,393,628 (GRCm39) |
D497G |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,819,629 (GRCm39) |
I5121V |
probably benign |
Het |
Gcn1 |
T |
A |
5: 115,752,461 (GRCm39) |
D2155E |
probably benign |
Het |
Glra1 |
C |
A |
11: 55,427,210 (GRCm39) |
D42Y |
probably damaging |
Het |
Gpr171 |
A |
G |
3: 59,004,887 (GRCm39) |
V296A |
probably benign |
Het |
Grid1 |
T |
A |
14: 35,302,644 (GRCm39) |
S970T |
possibly damaging |
Het |
Hcn3 |
A |
T |
3: 89,057,370 (GRCm39) |
|
probably null |
Het |
Helb |
T |
C |
10: 119,920,754 (GRCm39) |
D1063G |
probably benign |
Het |
Hsd3b3 |
G |
A |
3: 98,649,931 (GRCm39) |
P131S |
probably damaging |
Het |
Hsp90b1 |
A |
G |
10: 86,537,672 (GRCm39) |
V211A |
probably damaging |
Het |
Htr2c |
A |
G |
X: 145,976,793 (GRCm39) |
T163A |
probably benign |
Het |
Ifi208 |
T |
A |
1: 173,523,180 (GRCm39) |
D483E |
possibly damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,727 (GRCm39) |
V474E |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,072,487 (GRCm39) |
Y64* |
probably null |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Map3k10 |
T |
C |
7: 27,357,786 (GRCm39) |
D664G |
possibly damaging |
Het |
Map3k5 |
C |
A |
10: 20,007,798 (GRCm39) |
S1201Y |
probably benign |
Het |
Mcm2 |
T |
C |
6: 88,868,973 (GRCm39) |
E293G |
possibly damaging |
Het |
Med21 |
T |
A |
6: 146,551,599 (GRCm39) |
|
probably null |
Het |
Mettl18 |
T |
C |
1: 163,824,354 (GRCm39) |
V225A |
probably benign |
Het |
Mmp10 |
A |
T |
9: 7,508,169 (GRCm39) |
I432F |
probably damaging |
Het |
Muc5b |
T |
G |
7: 141,415,185 (GRCm39) |
Y2710* |
probably null |
Het |
Neurl4 |
A |
T |
11: 69,801,894 (GRCm39) |
I1282F |
probably benign |
Het |
Nipbl |
A |
T |
15: 8,395,313 (GRCm39) |
H191Q |
possibly damaging |
Het |
Nktr |
A |
G |
9: 121,570,759 (GRCm39) |
D167G |
probably damaging |
Het |
Nsfl1c |
A |
G |
2: 151,351,526 (GRCm39) |
T297A |
probably benign |
Het |
Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
Or1e1 |
G |
A |
11: 73,245,322 (GRCm39) |
V248M |
probably damaging |
Het |
Or4a39 |
C |
T |
2: 89,236,599 (GRCm39) |
V275I |
probably benign |
Het |
Or4k6 |
A |
G |
14: 50,476,190 (GRCm39) |
S51P |
probably damaging |
Het |
Or5b24 |
C |
T |
19: 12,912,581 (GRCm39) |
H160Y |
probably benign |
Het |
Or5d36 |
T |
A |
2: 87,900,956 (GRCm39) |
I257L |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,327 (GRCm39) |
S375G |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,335,757 (GRCm39) |
F48S |
probably damaging |
Het |
Phf2 |
A |
T |
13: 48,975,185 (GRCm39) |
|
probably null |
Het |
Piezo1 |
A |
T |
8: 123,213,678 (GRCm39) |
M1739K |
possibly damaging |
Het |
Piezo1 |
G |
T |
8: 123,224,945 (GRCm39) |
Q654K |
probably damaging |
Het |
Pml |
C |
T |
9: 58,141,935 (GRCm39) |
R299H |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,574,130 (GRCm39) |
M236K |
probably damaging |
Het |
Prkch |
T |
A |
12: 73,739,734 (GRCm39) |
C203S |
probably damaging |
Het |
Prob1 |
C |
T |
18: 35,785,869 (GRCm39) |
R795H |
possibly damaging |
Het |
Prr22 |
G |
C |
17: 57,078,274 (GRCm39) |
E142D |
possibly damaging |
Het |
Prss56 |
C |
A |
1: 87,113,305 (GRCm39) |
A211E |
possibly damaging |
Het |
Qser1 |
A |
C |
2: 104,617,649 (GRCm39) |
S1054R |
probably benign |
Het |
Rhbdl2 |
T |
C |
4: 123,720,694 (GRCm39) |
|
probably null |
Het |
Rhot2 |
C |
A |
17: 26,063,248 (GRCm39) |
G19V |
probably damaging |
Het |
Rp1l1 |
C |
T |
14: 64,267,249 (GRCm39) |
T945M |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,794,750 (GRCm39) |
T121A |
possibly damaging |
Het |
Sdad1 |
C |
T |
5: 92,452,836 (GRCm39) |
R134Q |
possibly damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Sharpin |
T |
A |
15: 76,231,767 (GRCm39) |
D314V |
probably damaging |
Het |
Slc14a2 |
A |
T |
18: 78,198,796 (GRCm39) |
L778Q |
probably damaging |
Het |
Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
Slc4a11 |
C |
A |
2: 130,532,787 (GRCm39) |
R222L |
probably damaging |
Het |
Slc7a10 |
C |
T |
7: 34,900,187 (GRCm39) |
P502S |
probably damaging |
Het |
Sort1 |
T |
G |
3: 108,263,639 (GRCm39) |
Y812* |
probably null |
Het |
Spata31d1b |
G |
A |
13: 59,866,172 (GRCm39) |
V1107M |
probably damaging |
Het |
Tcp10b |
G |
A |
17: 13,289,832 (GRCm39) |
|
probably null |
Het |
Tnc |
T |
C |
4: 63,913,876 (GRCm39) |
D1312G |
possibly damaging |
Het |
Tomm40l |
G |
A |
1: 171,047,131 (GRCm39) |
R296* |
probably null |
Het |
Topors |
A |
T |
4: 40,261,015 (GRCm39) |
S756R |
unknown |
Het |
Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
Ube2o |
T |
C |
11: 116,432,734 (GRCm39) |
D744G |
probably benign |
Het |
Vmn1r224 |
A |
G |
17: 20,640,013 (GRCm39) |
I197V |
probably benign |
Het |
Zc3h18 |
A |
T |
8: 123,110,382 (GRCm39) |
D77V |
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 |
R2258:Nrap
|
UTSW |
19 |
56,310,394 (GRCm39) |
missense |
possibly damaging |
0.80 |
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 |
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'- GTGGCATCTTCAGTCTCTGC -3'
(R):5'- ATAGGCAGGACTTCCGGAGTTC -3'
Sequencing Primer
(F):5'- TGCCATAGACAGAAGTAGCACTGTC -3'
(R):5'- TTCCGGAGTTCTCAGAGGACTC -3'
|
Posted On |
2015-11-11 |