Incidental Mutation 'R4939:Pbrm1'
ID |
382949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pbrm1
|
Ensembl Gene |
ENSMUSG00000042323 |
Gene Name |
polybromo 1 |
Synonyms |
2310032M22Rik, BAF180, 2610016F04Rik, Pb1 |
MMRRC Submission |
042538-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4939 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
30741095-30843549 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30783580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 566
(M566V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022471]
[ENSMUST00000022474]
[ENSMUST00000052239]
[ENSMUST00000090214]
[ENSMUST00000112092]
[ENSMUST00000112094]
[ENSMUST00000135704]
[ENSMUST00000156628]
[ENSMUST00000123678]
[ENSMUST00000112098]
[ENSMUST00000112095]
[ENSMUST00000136237]
[ENSMUST00000146325]
|
AlphaFold |
Q8BSQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022471
AA Change: M566V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022471 Gene: ENSMUSG00000042323 AA Change: M566V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
HMG
|
1378 |
1450 |
8.91e-10 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022474
AA Change: M581V
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000022474 Gene: ENSMUSG00000042323 AA Change: M581V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
HMG
|
1393 |
1465 |
8.91e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052239
AA Change: M566V
PolyPhen 2
Score 0.437 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000060476 Gene: ENSMUSG00000042323 AA Change: M566V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
BAH
|
956 |
1049 |
8.64e-22 |
SMART |
low complexity region
|
1058 |
1072 |
N/A |
INTRINSIC |
BAH
|
1131 |
1247 |
3.02e-35 |
SMART |
low complexity region
|
1293 |
1310 |
N/A |
INTRINSIC |
HMG
|
1326 |
1396 |
2.87e-13 |
SMART |
low complexity region
|
1405 |
1430 |
N/A |
INTRINSIC |
low complexity region
|
1449 |
1477 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090214
AA Change: M566V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000087682 Gene: ENSMUSG00000042323 AA Change: M566V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
HMG
|
1378 |
1448 |
1.62e-21 |
SMART |
low complexity region
|
1464 |
1475 |
N/A |
INTRINSIC |
low complexity region
|
1485 |
1500 |
N/A |
INTRINSIC |
low complexity region
|
1512 |
1537 |
N/A |
INTRINSIC |
low complexity region
|
1556 |
1584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112092
AA Change: M581V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107721 Gene: ENSMUSG00000042323 AA Change: M581V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
HMG
|
1393 |
1463 |
1.62e-21 |
SMART |
low complexity region
|
1479 |
1490 |
N/A |
INTRINSIC |
low complexity region
|
1519 |
1547 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112094
AA Change: M534V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000107723 Gene: ENSMUSG00000042323 AA Change: M534V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
322 |
338 |
N/A |
INTRINSIC |
BROMO
|
347 |
457 |
1.57e-32 |
SMART |
BROMO
|
484 |
595 |
6.07e-39 |
SMART |
BROMO
|
619 |
733 |
3.01e-43 |
SMART |
BROMO
|
743 |
849 |
2.53e-18 |
SMART |
coiled coil region
|
875 |
902 |
N/A |
INTRINSIC |
BAH
|
924 |
1042 |
1.33e-45 |
SMART |
low complexity region
|
1051 |
1065 |
N/A |
INTRINSIC |
BAH
|
1124 |
1240 |
3.02e-35 |
SMART |
low complexity region
|
1286 |
1306 |
N/A |
INTRINSIC |
HMG
|
1346 |
1416 |
2.87e-13 |
SMART |
low complexity region
|
1425 |
1450 |
N/A |
INTRINSIC |
low complexity region
|
1469 |
1497 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135704
AA Change: M525V
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000115505 Gene: ENSMUSG00000042323 AA Change: M525V
Domain | Start | End | E-Value | Type |
BROMO
|
1 |
97 |
3.24e-25 |
SMART |
BROMO
|
119 |
233 |
5.84e-41 |
SMART |
low complexity region
|
298 |
314 |
N/A |
INTRINSIC |
BROMO
|
323 |
433 |
1.57e-32 |
SMART |
BROMO
|
475 |
586 |
6.07e-39 |
SMART |
BROMO
|
610 |
724 |
3.01e-43 |
SMART |
BROMO
|
734 |
840 |
2.53e-18 |
SMART |
low complexity region
|
862 |
892 |
N/A |
INTRINSIC |
BAH
|
914 |
1032 |
1.33e-45 |
SMART |
low complexity region
|
1041 |
1055 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156628
AA Change: M566V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123546 Gene: ENSMUSG00000042323 AA Change: M566V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
low complexity region
|
903 |
933 |
N/A |
INTRINSIC |
BAH
|
955 |
1073 |
1.33e-45 |
SMART |
low complexity region
|
1082 |
1096 |
N/A |
INTRINSIC |
BAH
|
1155 |
1271 |
3.02e-35 |
SMART |
low complexity region
|
1317 |
1337 |
N/A |
INTRINSIC |
HMG
|
1377 |
1447 |
2.87e-13 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123678
AA Change: M566V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120549 Gene: ENSMUSG00000042323 AA Change: M566V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
856 |
2.3e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112098
AA Change: M581V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107727 Gene: ENSMUSG00000042323 AA Change: M581V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
531 |
642 |
6.07e-39 |
SMART |
BROMO
|
666 |
780 |
3.01e-43 |
SMART |
BROMO
|
790 |
896 |
2.53e-18 |
SMART |
coiled coil region
|
922 |
949 |
N/A |
INTRINSIC |
BAH
|
971 |
1089 |
1.33e-45 |
SMART |
low complexity region
|
1098 |
1112 |
N/A |
INTRINSIC |
BAH
|
1171 |
1287 |
3.02e-35 |
SMART |
low complexity region
|
1333 |
1353 |
N/A |
INTRINSIC |
HMG
|
1393 |
1463 |
1.62e-21 |
SMART |
low complexity region
|
1479 |
1490 |
N/A |
INTRINSIC |
low complexity region
|
1500 |
1515 |
N/A |
INTRINSIC |
low complexity region
|
1527 |
1552 |
N/A |
INTRINSIC |
low complexity region
|
1571 |
1599 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000112095
AA Change: M566V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000107724 Gene: ENSMUSG00000042323 AA Change: M566V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
881 |
2.53e-18 |
SMART |
coiled coil region
|
907 |
934 |
N/A |
INTRINSIC |
BAH
|
956 |
1074 |
1.33e-45 |
SMART |
low complexity region
|
1083 |
1097 |
N/A |
INTRINSIC |
BAH
|
1156 |
1272 |
3.02e-35 |
SMART |
low complexity region
|
1318 |
1338 |
N/A |
INTRINSIC |
HMG
|
1378 |
1448 |
2.87e-13 |
SMART |
low complexity region
|
1457 |
1482 |
N/A |
INTRINSIC |
low complexity region
|
1501 |
1529 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136237
AA Change: M566V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119722 Gene: ENSMUSG00000042323 AA Change: M566V
Domain | Start | End | E-Value | Type |
BROMO
|
43 |
153 |
4.97e-35 |
SMART |
BROMO
|
175 |
289 |
5.84e-41 |
SMART |
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
BROMO
|
379 |
489 |
1.57e-32 |
SMART |
BROMO
|
516 |
627 |
6.07e-39 |
SMART |
BROMO
|
651 |
765 |
3.01e-43 |
SMART |
BROMO
|
775 |
859 |
7.08e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146325
AA Change: M555V
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122805 Gene: ENSMUSG00000042323 AA Change: M555V
Domain | Start | End | E-Value | Type |
BROMO
|
64 |
174 |
4.97e-35 |
SMART |
BROMO
|
196 |
310 |
5.84e-41 |
SMART |
low complexity region
|
343 |
359 |
N/A |
INTRINSIC |
BROMO
|
368 |
478 |
1.57e-32 |
SMART |
BROMO
|
505 |
616 |
6.07e-39 |
SMART |
BROMO
|
640 |
754 |
3.01e-43 |
SMART |
BROMO
|
764 |
870 |
2.53e-18 |
SMART |
coiled coil region
|
896 |
923 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a subunit of ATP-dependent chromatin-remodeling complexes. The encoded protein has been identified as in integral component of complexes necessary for ligand-dependent transcriptional activation by nuclear hormone receptors. Mutations at this locus have been associated with primary clear cell renal cell carcinoma. [provided by RefSeq, Feb 2012] PHENOTYPE: Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
A |
T |
4: 86,161,962 (GRCm39) |
Y365F |
possibly damaging |
Het |
Atp2a1 |
T |
C |
7: 126,049,288 (GRCm39) |
M585V |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,398,876 (GRCm39) |
V1572A |
probably benign |
Het |
C1ql4 |
A |
T |
15: 98,985,521 (GRCm39) |
M30K |
probably damaging |
Het |
Ccdc73 |
A |
G |
2: 104,822,502 (GRCm39) |
|
probably null |
Het |
Cdk6 |
A |
T |
5: 3,394,377 (GRCm39) |
D4V |
probably null |
Het |
Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
Clic4 |
T |
C |
4: 134,950,852 (GRCm39) |
E113G |
probably benign |
Het |
Creld1 |
C |
A |
6: 113,465,140 (GRCm39) |
H122Q |
probably benign |
Het |
Cyp4a29 |
G |
A |
4: 115,104,873 (GRCm39) |
|
probably null |
Het |
Dnaaf3 |
A |
T |
7: 4,530,144 (GRCm39) |
S246R |
probably damaging |
Het |
Dnah12 |
A |
T |
14: 26,613,481 (GRCm39) |
T3925S |
probably damaging |
Het |
Dnajc21 |
T |
A |
15: 10,449,683 (GRCm39) |
D446V |
probably damaging |
Het |
Dock8 |
A |
T |
19: 25,099,764 (GRCm39) |
Y629F |
probably damaging |
Het |
Duxf4 |
T |
C |
10: 58,071,425 (GRCm39) |
N263S |
probably benign |
Het |
E2f8 |
A |
T |
7: 48,521,886 (GRCm39) |
N405K |
probably benign |
Het |
Flg |
A |
G |
3: 93,187,154 (GRCm39) |
N202S |
probably benign |
Het |
Glyatl3 |
A |
G |
17: 41,220,914 (GRCm39) |
|
probably null |
Het |
Gm38999 |
A |
G |
7: 43,077,885 (GRCm39) |
T63A |
possibly damaging |
Het |
Grap |
A |
G |
11: 61,551,124 (GRCm39) |
Y52C |
probably damaging |
Het |
Haus2 |
T |
A |
2: 120,449,517 (GRCm39) |
I187K |
probably damaging |
Het |
Heatr5b |
T |
C |
17: 79,069,689 (GRCm39) |
E1686G |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,856,484 (GRCm39) |
D3944G |
probably damaging |
Het |
Hexd |
A |
T |
11: 121,098,542 (GRCm39) |
M9L |
probably benign |
Het |
Hoxa3 |
T |
C |
6: 52,147,656 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,235,342 (GRCm39) |
I126F |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,417,519 (GRCm39) |
C123* |
probably null |
Het |
Jmjd1c |
T |
A |
10: 67,081,916 (GRCm39) |
N2346K |
possibly damaging |
Het |
Kctd9 |
A |
G |
14: 67,967,135 (GRCm39) |
Y37C |
probably damaging |
Het |
Kmt5b |
A |
C |
19: 3,865,245 (GRCm39) |
S747R |
possibly damaging |
Het |
Krt26 |
T |
C |
11: 99,225,522 (GRCm39) |
M320V |
probably benign |
Het |
Lama1 |
T |
G |
17: 68,044,470 (GRCm39) |
V123G |
possibly damaging |
Het |
Lamc2 |
T |
C |
1: 153,002,582 (GRCm39) |
D1103G |
probably damaging |
Het |
Lepr |
A |
T |
4: 101,590,635 (GRCm39) |
K71I |
possibly damaging |
Het |
Llgl1 |
A |
T |
11: 60,600,805 (GRCm39) |
|
probably null |
Het |
Mcoln2 |
A |
T |
3: 145,897,996 (GRCm39) |
H39L |
probably benign |
Het |
Mtrex |
T |
C |
13: 113,046,426 (GRCm39) |
D308G |
possibly damaging |
Het |
Myh11 |
T |
A |
16: 14,057,371 (GRCm39) |
T315S |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,975,165 (GRCm39) |
|
probably null |
Het |
Nlrp9b |
G |
T |
7: 19,758,421 (GRCm39) |
V553F |
probably damaging |
Het |
Nubpl |
A |
G |
12: 52,227,878 (GRCm39) |
N129S |
probably damaging |
Het |
Nup214 |
C |
A |
2: 31,873,171 (GRCm39) |
T255K |
probably benign |
Het |
Or10j3 |
T |
C |
1: 173,031,030 (GRCm39) |
Y36H |
possibly damaging |
Het |
Or2t46 |
G |
T |
11: 58,472,037 (GRCm39) |
M122I |
probably damaging |
Het |
Or2y17 |
A |
G |
11: 49,231,376 (GRCm39) |
T6A |
probably benign |
Het |
Or4d1 |
G |
T |
11: 87,804,950 (GRCm39) |
P261T |
probably damaging |
Het |
Or52z14 |
T |
C |
7: 103,253,458 (GRCm39) |
V199A |
probably benign |
Het |
Or5b3 |
T |
A |
19: 13,388,219 (GRCm39) |
N95K |
probably benign |
Het |
Orc3 |
G |
A |
4: 34,593,126 (GRCm39) |
Q256* |
probably null |
Het |
Pde6b |
A |
G |
5: 108,569,363 (GRCm39) |
I357V |
probably benign |
Het |
Pkdrej |
A |
G |
15: 85,704,484 (GRCm39) |
I484T |
possibly damaging |
Het |
Plvap |
A |
G |
8: 71,964,083 (GRCm39) |
V93A |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,142,697 (GRCm39) |
Y1586C |
probably damaging |
Het |
Ppfia4 |
A |
T |
1: 134,255,817 (GRCm39) |
L196Q |
possibly damaging |
Het |
Ptpn13 |
T |
G |
5: 103,665,335 (GRCm39) |
|
probably null |
Het |
Ranbp17 |
T |
C |
11: 33,169,223 (GRCm39) |
N997S |
probably benign |
Het |
Rpap2 |
G |
T |
5: 107,751,491 (GRCm39) |
|
probably null |
Het |
Rrm1 |
T |
C |
7: 102,116,131 (GRCm39) |
V683A |
probably benign |
Het |
Ruvbl1 |
A |
G |
6: 88,460,021 (GRCm39) |
|
probably null |
Het |
Sh3pxd2a |
A |
G |
19: 47,266,843 (GRCm39) |
Y277H |
probably damaging |
Het |
Shank1 |
C |
T |
7: 43,975,586 (GRCm39) |
P477S |
unknown |
Het |
Shtn1 |
T |
C |
19: 59,010,633 (GRCm39) |
E278G |
probably benign |
Het |
Skap2 |
T |
A |
6: 51,899,303 (GRCm39) |
I109F |
possibly damaging |
Het |
Slc28a3 |
A |
C |
13: 58,706,395 (GRCm39) |
I615M |
probably benign |
Het |
Slc4a11 |
A |
G |
2: 130,526,788 (GRCm39) |
L780P |
probably damaging |
Het |
Slc5a4b |
T |
C |
10: 75,917,301 (GRCm39) |
E245G |
probably benign |
Het |
Slfn8 |
C |
T |
11: 82,894,111 (GRCm39) |
A843T |
probably benign |
Het |
Sncaip |
A |
T |
18: 53,040,335 (GRCm39) |
Q843L |
possibly damaging |
Het |
Spidr |
T |
A |
16: 15,958,610 (GRCm39) |
K51* |
probably null |
Het |
Spopfm2 |
A |
T |
3: 94,083,540 (GRCm39) |
Y90* |
probably null |
Het |
Tas2r123 |
T |
C |
6: 132,824,808 (GRCm39) |
V235A |
probably benign |
Het |
Tgfbr3 |
T |
C |
5: 107,278,335 (GRCm39) |
D757G |
probably benign |
Het |
Tmem132d |
A |
T |
5: 127,873,139 (GRCm39) |
V490D |
probably damaging |
Het |
Top2a |
T |
A |
11: 98,900,918 (GRCm39) |
H557L |
probably damaging |
Het |
Trafd1 |
A |
G |
5: 121,513,254 (GRCm39) |
I328T |
probably benign |
Het |
Trappc11 |
G |
A |
8: 47,972,700 (GRCm39) |
A291V |
probably damaging |
Het |
Tuba1c |
A |
G |
15: 98,935,835 (GRCm39) |
Y432C |
probably damaging |
Het |
Utp11 |
T |
G |
4: 124,577,043 (GRCm39) |
R109S |
possibly damaging |
Het |
Vmn1r159 |
T |
G |
7: 22,542,316 (GRCm39) |
T239P |
probably damaging |
Het |
Vwce |
A |
T |
19: 10,622,414 (GRCm39) |
N239Y |
probably damaging |
Het |
Yes1 |
T |
C |
5: 32,802,457 (GRCm39) |
|
probably null |
Het |
Zfand6 |
A |
C |
7: 84,265,030 (GRCm39) |
*224G |
probably null |
Het |
Zfp408 |
A |
T |
2: 91,475,450 (GRCm39) |
I668N |
probably damaging |
Het |
Zfp647 |
TGCACG |
TGCACGCACG |
15: 76,795,244 (GRCm39) |
|
probably null |
Het |
Zfp946 |
T |
C |
17: 22,674,418 (GRCm39) |
F391L |
probably damaging |
Het |
|
Other mutations in Pbrm1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00598:Pbrm1
|
APN |
14 |
30,752,884 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00648:Pbrm1
|
APN |
14 |
30,774,240 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00654:Pbrm1
|
APN |
14 |
30,754,361 (GRCm39) |
splice site |
probably benign |
|
IGL00674:Pbrm1
|
APN |
14 |
30,840,733 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00701:Pbrm1
|
APN |
14 |
30,774,205 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00850:Pbrm1
|
APN |
14 |
30,809,576 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01024:Pbrm1
|
APN |
14 |
30,774,217 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01924:Pbrm1
|
APN |
14 |
30,804,561 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02122:Pbrm1
|
APN |
14 |
30,811,573 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02390:Pbrm1
|
APN |
14 |
30,754,467 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02675:Pbrm1
|
APN |
14 |
30,828,244 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02936:Pbrm1
|
APN |
14 |
30,783,470 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02938:Pbrm1
|
APN |
14 |
30,789,761 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02997:Pbrm1
|
APN |
14 |
30,783,508 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03246:Pbrm1
|
APN |
14 |
30,832,506 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03290:Pbrm1
|
APN |
14 |
30,829,241 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03372:Pbrm1
|
APN |
14 |
30,806,976 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03386:Pbrm1
|
APN |
14 |
30,772,049 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4520001:Pbrm1
|
UTSW |
14 |
30,789,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R0502:Pbrm1
|
UTSW |
14 |
30,786,777 (GRCm39) |
missense |
probably benign |
0.36 |
R0552:Pbrm1
|
UTSW |
14 |
30,757,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R0558:Pbrm1
|
UTSW |
14 |
30,807,016 (GRCm39) |
splice site |
probably null |
|
R0561:Pbrm1
|
UTSW |
14 |
30,757,948 (GRCm39) |
missense |
probably benign |
|
R0591:Pbrm1
|
UTSW |
14 |
30,768,387 (GRCm39) |
splice site |
probably benign |
|
R0835:Pbrm1
|
UTSW |
14 |
30,789,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R1167:Pbrm1
|
UTSW |
14 |
30,772,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R1209:Pbrm1
|
UTSW |
14 |
30,840,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R1259:Pbrm1
|
UTSW |
14 |
30,796,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R1321:Pbrm1
|
UTSW |
14 |
30,789,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1622:Pbrm1
|
UTSW |
14 |
30,754,505 (GRCm39) |
missense |
probably benign |
0.07 |
R1843:Pbrm1
|
UTSW |
14 |
30,760,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R1870:Pbrm1
|
UTSW |
14 |
30,828,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R2202:Pbrm1
|
UTSW |
14 |
30,754,406 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2203:Pbrm1
|
UTSW |
14 |
30,754,406 (GRCm39) |
missense |
possibly damaging |
0.76 |
R2247:Pbrm1
|
UTSW |
14 |
30,796,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R3237:Pbrm1
|
UTSW |
14 |
30,754,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R4091:Pbrm1
|
UTSW |
14 |
30,757,960 (GRCm39) |
missense |
probably benign |
0.00 |
R4280:Pbrm1
|
UTSW |
14 |
30,829,269 (GRCm39) |
critical splice donor site |
probably null |
|
R4379:Pbrm1
|
UTSW |
14 |
30,789,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R4381:Pbrm1
|
UTSW |
14 |
30,747,513 (GRCm39) |
missense |
probably benign |
0.02 |
R4816:Pbrm1
|
UTSW |
14 |
30,832,405 (GRCm39) |
missense |
probably benign |
0.32 |
R4945:Pbrm1
|
UTSW |
14 |
30,774,173 (GRCm39) |
missense |
probably damaging |
0.97 |
R4958:Pbrm1
|
UTSW |
14 |
30,796,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R5095:Pbrm1
|
UTSW |
14 |
30,754,487 (GRCm39) |
missense |
probably benign |
0.00 |
R5276:Pbrm1
|
UTSW |
14 |
30,828,141 (GRCm39) |
missense |
probably damaging |
0.99 |
R5387:Pbrm1
|
UTSW |
14 |
30,804,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R5434:Pbrm1
|
UTSW |
14 |
30,806,968 (GRCm39) |
missense |
probably damaging |
0.96 |
R5476:Pbrm1
|
UTSW |
14 |
30,754,476 (GRCm39) |
missense |
probably benign |
0.00 |
R5522:Pbrm1
|
UTSW |
14 |
30,811,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R5548:Pbrm1
|
UTSW |
14 |
30,827,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R5605:Pbrm1
|
UTSW |
14 |
30,757,949 (GRCm39) |
missense |
probably benign |
0.20 |
R6089:Pbrm1
|
UTSW |
14 |
30,809,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R6159:Pbrm1
|
UTSW |
14 |
30,774,240 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6224:Pbrm1
|
UTSW |
14 |
30,772,068 (GRCm39) |
missense |
probably benign |
0.19 |
R6335:Pbrm1
|
UTSW |
14 |
30,806,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R6499:Pbrm1
|
UTSW |
14 |
30,783,466 (GRCm39) |
missense |
probably damaging |
0.99 |
R6823:Pbrm1
|
UTSW |
14 |
30,806,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R7002:Pbrm1
|
UTSW |
14 |
30,786,777 (GRCm39) |
missense |
probably benign |
0.36 |
R7021:Pbrm1
|
UTSW |
14 |
30,789,773 (GRCm39) |
missense |
probably damaging |
0.98 |
R7216:Pbrm1
|
UTSW |
14 |
30,767,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7588:Pbrm1
|
UTSW |
14 |
30,806,900 (GRCm39) |
missense |
probably damaging |
0.99 |
R7828:Pbrm1
|
UTSW |
14 |
30,752,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R8035:Pbrm1
|
UTSW |
14 |
30,806,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R8188:Pbrm1
|
UTSW |
14 |
30,789,773 (GRCm39) |
missense |
probably damaging |
0.98 |
R8417:Pbrm1
|
UTSW |
14 |
30,749,419 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8517:Pbrm1
|
UTSW |
14 |
30,789,739 (GRCm39) |
missense |
probably benign |
0.00 |
R9024:Pbrm1
|
UTSW |
14 |
30,783,623 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:Pbrm1
|
UTSW |
14 |
30,806,760 (GRCm39) |
nonsense |
probably null |
|
R9509:Pbrm1
|
UTSW |
14 |
30,806,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R9713:Pbrm1
|
UTSW |
14 |
30,828,123 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1088:Pbrm1
|
UTSW |
14 |
30,832,411 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTTGGATAAAGTAAGCTGACC -3'
(R):5'- ACACTTGGGAGATTCACTTGC -3'
Sequencing Primer
(F):5'- AAAGTAAGCTGACCTTGTTTTTCCC -3'
(R):5'- CACTTGGGAGATTCACTTGCATGTC -3'
|
Posted On |
2016-04-27 |