Incidental Mutation 'R4816:Pbrm1'
| ID |
369843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pbrm1
|
| Ensembl Gene |
ENSMUSG00000042323 |
| Gene Name |
polybromo 1 |
| Synonyms |
2310032M22Rik, BAF180, 2610016F04Rik, Pb1 |
| MMRRC Submission |
042434-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4816 (G1)
|
| Quality Score |
160 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
30741095-30843549 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30832405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 1441
(R1441K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087682
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022471]
[ENSMUST00000022474]
[ENSMUST00000052239]
[ENSMUST00000064032]
[ENSMUST00000090214]
[ENSMUST00000112092]
[ENSMUST00000112094]
[ENSMUST00000112098]
[ENSMUST00000203261]
[ENSMUST00000136237]
[ENSMUST00000156628]
[ENSMUST00000123678]
[ENSMUST00000112095]
|
| AlphaFold |
Q8BSQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022471
|
| SMART Domains |
Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
| 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 |
probably benign
Transcript: ENSMUST00000022474
|
| SMART Domains |
Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
| 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
|
| SMART Domains |
Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
| 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 |
probably benign
Transcript: ENSMUST00000064032
|
| SMART Domains |
Protein: ENSMUSP00000067418
Gene: ENSMUSG00000058351
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0640
|
2 |
68 |
9.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090214
AA Change: R1441K
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: R1441K
| 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 benign
Transcript: ENSMUST00000112092
AA Change: R1456K
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: R1456K
| 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 benign
Transcript: ENSMUST00000112094
|
| SMART Domains |
Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
| 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 |
probably benign
Transcript: ENSMUST00000112098
AA Change: R1456K
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: R1456K
| 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 benign
Transcript: ENSMUST00000203261
|
| SMART Domains |
Protein: ENSMUSP00000145018
Gene: ENSMUSG00000058351
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0640
|
2 |
68 |
9.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136237
|
| SMART Domains |
Protein: ENSMUSP00000119722
Gene: ENSMUSG00000042323
| 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 |
probably benign
Transcript: ENSMUST00000156628
|
| SMART Domains |
Protein: ENSMUSP00000123546
Gene: ENSMUSG00000042323
| 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 benign
Transcript: ENSMUST00000123678
|
| SMART Domains |
Protein: ENSMUSP00000120549
Gene: ENSMUSG00000042323
| 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 benign
Transcript: ENSMUST00000112095
|
| SMART Domains |
Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
| Validation Efficiency |
97% (113/116) |
| 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: 107 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,754,131 (GRCm39) |
A1562S |
probably benign |
Het |
| Adam30 |
C |
A |
3: 98,070,061 (GRCm39) |
D631E |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,676,793 (GRCm39) |
T2013A |
probably damaging |
Het |
| Ark2n |
A |
T |
18: 77,740,995 (GRCm39) |
|
probably null |
Het |
| Baiap3 |
T |
A |
17: 25,466,269 (GRCm39) |
|
probably benign |
Het |
| Bicra |
T |
C |
7: 15,722,831 (GRCm39) |
T229A |
possibly damaging |
Het |
| C1qbp |
A |
G |
11: 70,873,190 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
C |
A |
7: 100,040,226 (GRCm39) |
T265K |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,043,007 (GRCm39) |
I1331K |
possibly damaging |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Cdcp2 |
A |
G |
4: 106,963,969 (GRCm39) |
Y273C |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,244,856 (GRCm39) |
V1013G |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,386,529 (GRCm39) |
I39N |
probably damaging |
Het |
| Cep152 |
A |
C |
2: 125,405,674 (GRCm39) |
S1619R |
probably damaging |
Het |
| Cfap36 |
A |
G |
11: 29,195,108 (GRCm39) |
I42T |
probably damaging |
Het |
| Cfap61 |
G |
T |
2: 145,985,020 (GRCm39) |
V955L |
probably damaging |
Het |
| Cit |
G |
A |
5: 116,046,750 (GRCm39) |
D388N |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,516,613 (GRCm39) |
M328V |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,527,458 (GRCm39) |
I447L |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,721,330 (GRCm39) |
T1538A |
possibly damaging |
Het |
| Cstf1 |
A |
G |
2: 172,214,905 (GRCm39) |
K9E |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,625,186 (GRCm39) |
M560K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,466,779 (GRCm39) |
T550S |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,799,505 (GRCm39) |
E460G |
probably damaging |
Het |
| Dus1l |
GAGGTAAG |
GAG |
11: 120,680,584 (GRCm39) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,320,927 (GRCm39) |
V120E |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,689,001 (GRCm39) |
Y769C |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,942,874 (GRCm39) |
Y22C |
probably damaging |
Het |
| Flacc1 |
G |
A |
1: 58,709,567 (GRCm39) |
A196V |
probably benign |
Het |
| Gbp3 |
T |
C |
3: 142,273,335 (GRCm39) |
V294A |
probably damaging |
Het |
| Gls |
A |
G |
1: 52,239,104 (GRCm39) |
|
probably benign |
Het |
| Gm15130 |
A |
T |
2: 110,965,714 (GRCm39) |
|
probably benign |
Het |
| Gm6185 |
A |
T |
1: 161,040,728 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr171 |
T |
A |
3: 59,005,517 (GRCm39) |
H86L |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,230,074 (GRCm39) |
T694A |
probably damaging |
Het |
| H2-Aa |
A |
T |
17: 34,502,794 (GRCm39) |
V124E |
probably damaging |
Het |
| H2bc13 |
A |
G |
13: 21,900,135 (GRCm39) |
M60T |
probably benign |
Het |
| H2-M5 |
A |
G |
17: 37,300,309 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,902,984 (GRCm39) |
N2355K |
probably damaging |
Het |
| Il9r |
A |
C |
11: 32,142,654 (GRCm39) |
S295A |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,334,288 (GRCm39) |
T313A |
probably benign |
Het |
| Kalrn |
C |
T |
16: 34,334,389 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,610,661 (GRCm39) |
V1175M |
possibly damaging |
Het |
| Lhpp |
T |
A |
7: 132,272,104 (GRCm39) |
C242* |
probably null |
Het |
| Lipe |
A |
G |
7: 25,079,568 (GRCm39) |
S1013P |
probably damaging |
Het |
| Lrrc25 |
C |
T |
8: 71,070,726 (GRCm39) |
T169I |
probably benign |
Het |
| Lrrc39 |
T |
C |
3: 116,362,515 (GRCm39) |
|
probably null |
Het |
| Lrrd1 |
T |
A |
5: 3,901,126 (GRCm39) |
L477* |
probably null |
Het |
| Lrriq4 |
A |
G |
3: 30,714,196 (GRCm39) |
I515V |
possibly damaging |
Het |
| Magel2 |
A |
G |
7: 62,030,840 (GRCm39) |
Y1248C |
unknown |
Het |
| Maml1 |
G |
T |
11: 50,149,162 (GRCm39) |
N859K |
possibly damaging |
Het |
| Mdm1 |
A |
T |
10: 117,982,782 (GRCm39) |
H139L |
possibly damaging |
Het |
| Mef2d |
C |
T |
3: 88,075,397 (GRCm39) |
P420S |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,101,848 (GRCm39) |
K38E |
probably benign |
Het |
| Mtmr4 |
T |
C |
11: 87,494,923 (GRCm39) |
V405A |
probably damaging |
Het |
| Naip5 |
G |
A |
13: 100,356,195 (GRCm39) |
T1140M |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
A |
13: 100,356,189 (GRCm39) |
S1142F |
probably benign |
Het |
| Nfe2l3 |
T |
C |
6: 51,433,604 (GRCm39) |
S239P |
probably damaging |
Het |
| Nlrp3 |
A |
G |
11: 59,439,127 (GRCm39) |
I235V |
probably benign |
Het |
| Nyap2 |
T |
A |
1: 81,219,028 (GRCm39) |
L318Q |
probably damaging |
Het |
| Nynrin |
G |
A |
14: 56,109,458 (GRCm39) |
V1522M |
probably damaging |
Het |
| Oog3 |
A |
G |
4: 143,885,731 (GRCm39) |
L289P |
probably damaging |
Het |
| Or52n20 |
C |
T |
7: 104,319,942 (GRCm39) |
P11L |
probably benign |
Het |
| Or5b107 |
A |
G |
19: 13,142,488 (GRCm39) |
I37V |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,627,308 (GRCm39) |
D50G |
probably damaging |
Het |
| Or8b12b |
T |
A |
9: 37,684,726 (GRCm39) |
M257K |
possibly damaging |
Het |
| Or9g20 |
A |
T |
2: 85,630,391 (GRCm39) |
N74K |
probably benign |
Het |
| Pax6 |
T |
C |
2: 105,514,129 (GRCm39) |
|
probably benign |
Het |
| Pcdha9 |
C |
T |
18: 37,132,511 (GRCm39) |
R527W |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,450 (GRCm39) |
S747P |
probably benign |
Het |
| Pcnx3 |
A |
C |
19: 5,738,023 (GRCm39) |
|
probably null |
Het |
| Pds5a |
A |
T |
5: 65,808,632 (GRCm39) |
V413E |
probably damaging |
Het |
| Phpt1 |
G |
T |
2: 25,464,332 (GRCm39) |
|
probably benign |
Het |
| Phykpl |
A |
G |
11: 51,483,780 (GRCm39) |
E220G |
probably benign |
Het |
| Pias2 |
T |
C |
18: 77,193,587 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,269,639 (GRCm39) |
I3302L |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,655,822 (GRCm39) |
L241P |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,515,284 (GRCm39) |
I65N |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,588,997 (GRCm39) |
L954P |
probably damaging |
Het |
| Pxk |
T |
G |
14: 8,136,893 (GRCm38) |
M138R |
probably damaging |
Het |
| Rasl11b |
G |
T |
5: 74,359,058 (GRCm39) |
D188Y |
probably damaging |
Het |
| Rtraf |
A |
G |
14: 19,872,644 (GRCm39) |
F59S |
probably benign |
Het |
| Sanbr |
A |
C |
11: 23,565,243 (GRCm39) |
I248S |
possibly damaging |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Setdb2 |
G |
A |
14: 59,651,095 (GRCm39) |
T412I |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,606,043 (GRCm39) |
N75K |
probably damaging |
Het |
| Shank3 |
T |
A |
15: 89,427,318 (GRCm39) |
I791N |
probably damaging |
Het |
| Slc25a13 |
T |
A |
6: 6,114,274 (GRCm39) |
M213L |
possibly damaging |
Het |
| Slc25a21 |
T |
C |
12: 56,760,623 (GRCm39) |
Y298C |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,362 (GRCm39) |
N495S |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,451,231 (GRCm39) |
T292A |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,939,425 (GRCm39) |
|
probably benign |
Het |
| Tas2r113 |
C |
T |
6: 132,870,745 (GRCm39) |
P258S |
probably benign |
Het |
| Tbkbp1 |
T |
C |
11: 97,029,567 (GRCm39) |
S530G |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,918,117 (GRCm39) |
V1881A |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,878,606 (GRCm39) |
R262Q |
possibly damaging |
Het |
| Tmcc3 |
G |
T |
10: 94,414,646 (GRCm39) |
G147V |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,972,264 (GRCm39) |
E195V |
probably damaging |
Het |
| Try5 |
T |
C |
6: 41,290,349 (GRCm39) |
Y45C |
probably benign |
Het |
| Umad1 |
A |
C |
6: 8,457,462 (GRCm39) |
|
probably benign |
Het |
| Vmn2r105 |
T |
C |
17: 20,428,953 (GRCm39) |
I708V |
probably benign |
Het |
| Zc3h12d |
A |
T |
10: 7,743,711 (GRCm39) |
S494C |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,887,780 (GRCm39) |
S382P |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,251,599 (GRCm39) |
S1304G |
probably benign |
Het |
| Zfp287 |
G |
T |
11: 62,605,074 (GRCm39) |
T611K |
probably damaging |
Het |
| Zfp534 |
G |
A |
4: 147,758,743 (GRCm39) |
T642I |
possibly 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 |
|
R4939:Pbrm1
|
UTSW |
14 |
30,783,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GACTCCTGTGTTGAGACTAGTC -3'
(R):5'- TACAGACTGTGGCCTACTCC -3'
Sequencing Primer
(F):5'- CTGTGTTGAGACTAGTCATCTACCG -3'
(R):5'- AGACTGTGGCCTACTCCTTTTGG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation