Incidental Mutation 'R4937:Nrap'
ID |
380533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrap
|
Ensembl Gene |
ENSMUSG00000049134 |
Gene Name |
nebulin-related anchoring protein |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4937 (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 A
at 56335652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 923
(Y923F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048364
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040711]
[ENSMUST00000073536]
[ENSMUST00000095947]
[ENSMUST00000166203]
[ENSMUST00000167239]
|
AlphaFold |
Q80XB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040711
AA Change: Y923F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000048364 Gene: ENSMUSG00000049134 AA Change: Y923F
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: Y958F
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000073228 Gene: ENSMUSG00000049134 AA Change: Y958F
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: Y841F
PolyPhen 2
Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000093640 Gene: ENSMUSG00000049134 AA Change: Y841F
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: ENSMUST00000166203
AA Change: Y922F
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000132582 Gene: ENSMUSG00000049134 AA Change: Y922F
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: ENSMUST00000167239
AA Change: Y923F
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000128196 Gene: ENSMUSG00000049134 AA Change: Y923F
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: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
G |
5: 109,884,067 (GRCm39) |
F597S |
probably benign |
Het |
Aasdh |
C |
A |
5: 77,036,501 (GRCm39) |
E347* |
probably null |
Het |
Abca16 |
G |
T |
7: 120,126,309 (GRCm39) |
C1155F |
probably damaging |
Het |
Adam26a |
T |
C |
8: 44,021,918 (GRCm39) |
D524G |
probably damaging |
Het |
Adamts20 |
G |
C |
15: 94,277,656 (GRCm39) |
H269D |
probably benign |
Het |
Akap9 |
T |
A |
5: 4,100,145 (GRCm39) |
|
probably null |
Het |
Akt3 |
T |
C |
1: 176,877,693 (GRCm39) |
I358M |
possibly damaging |
Het |
Aldh9a1 |
G |
T |
1: 167,189,376 (GRCm39) |
A375S |
probably damaging |
Het |
Alg2 |
A |
G |
4: 47,473,974 (GRCm39) |
S105P |
probably benign |
Het |
Amph |
A |
G |
13: 19,288,515 (GRCm39) |
T335A |
probably damaging |
Het |
Ank2 |
C |
T |
3: 126,756,050 (GRCm39) |
V1056M |
probably damaging |
Het |
Apoh |
A |
G |
11: 108,298,204 (GRCm39) |
D168G |
probably benign |
Het |
Arfgef3 |
C |
T |
10: 18,465,454 (GRCm39) |
A2130T |
probably damaging |
Het |
Arhgap30 |
A |
G |
1: 171,230,897 (GRCm39) |
D218G |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,699,894 (GRCm39) |
P1906S |
probably damaging |
Het |
Atp11b |
T |
G |
3: 35,861,157 (GRCm39) |
|
probably null |
Het |
B4galnt2 |
A |
G |
11: 95,759,255 (GRCm39) |
V343A |
probably damaging |
Het |
Barhl1 |
T |
C |
2: 28,799,785 (GRCm39) |
Y280C |
probably damaging |
Het |
Bcar1 |
A |
T |
8: 112,447,669 (GRCm39) |
Y103N |
probably damaging |
Het |
Bid |
A |
G |
6: 120,872,707 (GRCm39) |
I150T |
probably benign |
Het |
Ccdc171 |
T |
C |
4: 83,467,876 (GRCm39) |
S74P |
probably damaging |
Het |
Ccni |
A |
T |
5: 93,336,113 (GRCm39) |
|
probably null |
Het |
Cct8l1 |
A |
G |
5: 25,721,891 (GRCm39) |
E202G |
probably benign |
Het |
Cd200r3 |
A |
G |
16: 44,774,622 (GRCm39) |
K212E |
probably benign |
Het |
Cdh19 |
A |
G |
1: 110,817,694 (GRCm39) |
S683P |
probably damaging |
Het |
Ces2b |
A |
T |
8: 105,559,413 (GRCm39) |
H93L |
probably benign |
Het |
Cimip2b |
T |
A |
4: 43,427,514 (GRCm39) |
Q270L |
possibly damaging |
Het |
Clec4a1 |
G |
A |
6: 122,907,654 (GRCm39) |
C114Y |
probably damaging |
Het |
Dcc |
G |
T |
18: 71,675,320 (GRCm39) |
S636* |
probably null |
Het |
Dcdc2c |
T |
C |
12: 28,580,472 (GRCm39) |
D187G |
possibly damaging |
Het |
Dgkb |
G |
T |
12: 38,164,657 (GRCm39) |
E150* |
probably null |
Het |
Dhx30 |
A |
G |
9: 109,915,029 (GRCm39) |
L884P |
probably damaging |
Het |
Dmwd |
T |
G |
7: 18,815,228 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
A |
11: 117,932,980 (GRCm39) |
N3593Y |
probably damaging |
Het |
Dnm2 |
G |
A |
9: 21,392,633 (GRCm39) |
S447N |
probably benign |
Het |
Elk4 |
G |
A |
1: 131,945,419 (GRCm39) |
G99D |
probably damaging |
Het |
Entpd1 |
A |
T |
19: 40,727,965 (GRCm39) |
|
probably benign |
Het |
Fam114a1 |
T |
A |
5: 65,137,070 (GRCm39) |
D4E |
probably damaging |
Het |
Fbln2 |
A |
G |
6: 91,241,681 (GRCm39) |
D754G |
probably damaging |
Het |
Fhip2a |
T |
C |
19: 57,367,069 (GRCm39) |
V204A |
probably benign |
Het |
Foxred2 |
T |
C |
15: 77,840,035 (GRCm39) |
N85S |
probably damaging |
Het |
Fut9 |
A |
G |
4: 25,799,591 (GRCm39) |
|
probably benign |
Het |
Gm1818 |
G |
A |
12: 48,606,607 (GRCm39) |
|
noncoding transcript |
Het |
Gm4894 |
C |
A |
9: 49,190,000 (GRCm39) |
Q92K |
unknown |
Het |
Gpx2 |
T |
C |
12: 76,839,574 (GRCm39) |
I141M |
probably benign |
Het |
Gusb |
T |
C |
5: 130,024,326 (GRCm39) |
T476A |
probably damaging |
Het |
Hmmr |
G |
A |
11: 40,612,667 (GRCm39) |
T180I |
possibly damaging |
Het |
Itgbl1 |
T |
C |
14: 124,210,780 (GRCm39) |
Y493H |
probably benign |
Het |
Klhdc9 |
G |
T |
1: 171,187,951 (GRCm39) |
C93* |
probably null |
Het |
Ldaf1 |
T |
C |
7: 119,715,535 (GRCm39) |
S120P |
probably damaging |
Het |
Lpar3 |
A |
G |
3: 145,990,506 (GRCm39) |
K275E |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,692,897 (GRCm39) |
|
probably null |
Het |
Lrrc63 |
C |
T |
14: 75,322,389 (GRCm39) |
G572S |
probably damaging |
Het |
Mapk11 |
A |
T |
15: 89,030,685 (GRCm39) |
D98E |
probably benign |
Het |
Mgat4f |
T |
A |
1: 134,317,714 (GRCm39) |
M162K |
probably benign |
Het |
Net1 |
G |
A |
13: 3,934,905 (GRCm39) |
R374W |
probably damaging |
Het |
Nlrp4g |
T |
A |
9: 124,354,005 (GRCm38) |
|
noncoding transcript |
Het |
Or13a20 |
T |
A |
7: 140,232,534 (GRCm39) |
M214K |
probably benign |
Het |
Or4c108 |
T |
A |
2: 88,803,834 (GRCm39) |
I134F |
probably damaging |
Het |
Or6c215 |
A |
T |
10: 129,637,932 (GRCm39) |
V154E |
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,677,335 (GRCm39) |
V964A |
probably damaging |
Het |
Pmfbp1 |
A |
G |
8: 110,262,498 (GRCm39) |
I731V |
probably benign |
Het |
Polq |
T |
A |
16: 36,848,274 (GRCm39) |
S294T |
probably benign |
Het |
Pomgnt2 |
T |
C |
9: 121,811,620 (GRCm39) |
D387G |
probably benign |
Het |
Pramel25 |
T |
C |
4: 143,520,407 (GRCm39) |
V53A |
possibly damaging |
Het |
Prmt2 |
G |
A |
10: 76,056,842 (GRCm39) |
T227I |
probably damaging |
Het |
Psmd1 |
T |
A |
1: 86,010,947 (GRCm39) |
F341I |
probably damaging |
Het |
Ptpn23 |
T |
C |
9: 110,221,806 (GRCm39) |
M127V |
probably benign |
Het |
Ptprc |
A |
G |
1: 138,017,238 (GRCm39) |
F483L |
probably damaging |
Het |
Rab35 |
A |
C |
5: 115,778,147 (GRCm39) |
I38L |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,548,143 (GRCm39) |
T486A |
probably damaging |
Het |
Rgl3 |
A |
T |
9: 21,899,004 (GRCm39) |
C68* |
probably null |
Het |
Rilpl1 |
T |
C |
5: 124,653,594 (GRCm39) |
E189G |
possibly damaging |
Het |
Rnf217 |
T |
C |
10: 31,393,520 (GRCm39) |
I354V |
probably benign |
Het |
Rspo3 |
T |
C |
10: 29,382,524 (GRCm39) |
D50G |
probably damaging |
Het |
Sbno1 |
A |
G |
5: 124,512,672 (GRCm39) |
S1366P |
possibly damaging |
Het |
Sema3c |
A |
G |
5: 17,899,684 (GRCm39) |
D392G |
probably benign |
Het |
Serpinb9e |
A |
T |
13: 33,436,935 (GRCm39) |
Y85F |
probably benign |
Het |
Shprh |
C |
T |
10: 11,032,863 (GRCm39) |
T283I |
probably benign |
Het |
Sipa1l1 |
T |
C |
12: 82,388,103 (GRCm39) |
S110P |
probably benign |
Het |
Slc16a12 |
T |
A |
19: 34,652,643 (GRCm39) |
I168F |
probably damaging |
Het |
Slc23a3 |
A |
G |
1: 75,109,268 (GRCm39) |
S221P |
probably damaging |
Het |
Slc35b3 |
A |
T |
13: 39,116,887 (GRCm39) |
I366K |
possibly damaging |
Het |
Slc44a5 |
T |
C |
3: 153,949,252 (GRCm39) |
|
probably null |
Het |
Slc5a12 |
A |
T |
2: 110,450,753 (GRCm39) |
D316V |
probably damaging |
Het |
Ssr3 |
A |
G |
3: 65,299,874 (GRCm39) |
S29P |
probably damaging |
Het |
Taf2 |
G |
A |
15: 54,890,619 (GRCm39) |
Q1055* |
probably null |
Het |
Them6 |
A |
T |
15: 74,593,367 (GRCm39) |
D75V |
probably damaging |
Het |
Tom1l2 |
A |
G |
11: 60,149,744 (GRCm39) |
S239P |
probably damaging |
Het |
Tspear |
A |
G |
10: 77,710,877 (GRCm39) |
T500A |
probably damaging |
Het |
Tubgcp6 |
G |
A |
15: 88,985,752 (GRCm39) |
A1487V |
probably damaging |
Het |
Uba7 |
G |
A |
9: 107,856,190 (GRCm39) |
V522I |
possibly damaging |
Het |
Virma |
C |
A |
4: 11,521,147 (GRCm39) |
C901* |
probably null |
Het |
Vmn1r172 |
A |
T |
7: 23,359,312 (GRCm39) |
I66F |
possibly damaging |
Het |
Vmn2r82 |
A |
T |
10: 79,215,010 (GRCm39) |
Y331F |
probably benign |
Het |
Wdr55 |
G |
A |
18: 36,895,451 (GRCm39) |
V143I |
probably benign |
Het |
Zbtb49 |
A |
T |
5: 38,371,307 (GRCm39) |
D191E |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,307,071 (GRCm39) |
H99R |
probably damaging |
Het |
Zfp1005 |
C |
T |
2: 150,110,680 (GRCm39) |
H457Y |
unknown |
Het |
Zfp560 |
C |
T |
9: 20,259,263 (GRCm39) |
C533Y |
probably damaging |
Het |
Zfp646 |
C |
T |
7: 127,478,354 (GRCm39) |
A177V |
probably benign |
Het |
Zfp653 |
C |
T |
9: 21,967,074 (GRCm39) |
E604K |
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 |
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 |
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'- AAAGACGAGGGTCCCTTCATC -3'
(R):5'- TTGCACCGGGTAGCAATAC -3'
Sequencing Primer
(F):5'- AGGGTCCCTTCATCCTCGG -3'
(R):5'- GCACCGGGTAGCAATACTTTAATG -3'
|
Posted On |
2016-04-15 |