Incidental Mutation 'R1843:Pbrm1'
ID |
207468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pbrm1
|
Ensembl Gene |
ENSMUSG00000042323 |
Gene Name |
polybromo 1 |
Synonyms |
2310032M22Rik, BAF180, 2610016F04Rik, Pb1 |
MMRRC Submission |
039868-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1843 (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 T
at 30760914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 224
(I224F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022471]
[ENSMUST00000022474]
[ENSMUST00000052239]
[ENSMUST00000090214]
[ENSMUST00000112092]
[ENSMUST00000112094]
[ENSMUST00000112098]
[ENSMUST00000112095]
[ENSMUST00000146325]
[ENSMUST00000136237]
[ENSMUST00000135704]
[ENSMUST00000123678]
[ENSMUST00000156628]
|
AlphaFold |
Q8BSQ9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022471
AA Change: I224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022471 Gene: ENSMUSG00000042323 AA Change: I224F
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 damaging
Transcript: ENSMUST00000022474
AA Change: I224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022474 Gene: ENSMUSG00000042323 AA Change: I224F
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 damaging
Transcript: ENSMUST00000052239
AA Change: I224F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000060476 Gene: ENSMUSG00000042323 AA Change: I224F
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 damaging
Transcript: ENSMUST00000090214
AA Change: I224F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000087682 Gene: ENSMUSG00000042323 AA Change: I224F
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: I224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107721 Gene: ENSMUSG00000042323 AA Change: I224F
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: I224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107723 Gene: ENSMUSG00000042323 AA Change: I224F
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 damaging
Transcript: ENSMUST00000112098
AA Change: I224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107727 Gene: ENSMUSG00000042323 AA Change: I224F
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: I224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107724 Gene: ENSMUSG00000042323 AA Change: I224F
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: ENSMUST00000146325
AA Change: I245F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000122805 Gene: ENSMUSG00000042323 AA Change: I245F
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000136237
AA Change: I224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119722 Gene: ENSMUSG00000042323 AA Change: I224F
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 damaging
Transcript: ENSMUST00000135704
AA Change: I168F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115505 Gene: ENSMUSG00000042323 AA Change: I168F
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: ENSMUST00000123678
AA Change: I224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000120549 Gene: ENSMUSG00000042323 AA Change: I224F
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: ENSMUST00000156628
AA Change: I224F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123546 Gene: ENSMUSG00000042323 AA Change: I224F
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 |
noncoding transcript
Transcript: ENSMUST00000226537
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
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: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
C |
T |
8: 106,435,606 (GRCm39) |
T88M |
probably damaging |
Het |
9430038I01Rik |
A |
G |
7: 136,978,795 (GRCm39) |
|
probably benign |
Het |
Adgra3 |
A |
C |
5: 50,118,834 (GRCm39) |
S905A |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,692,652 (GRCm39) |
Y1618H |
probably damaging |
Het |
Anapc15-ps |
T |
C |
10: 95,509,176 (GRCm39) |
T26A |
probably benign |
Het |
Ankrd13d |
T |
C |
19: 4,321,623 (GRCm39) |
K360E |
probably damaging |
Het |
Anks1b |
T |
A |
10: 90,348,751 (GRCm39) |
|
probably null |
Het |
Apob |
T |
C |
12: 8,057,602 (GRCm39) |
F2028S |
possibly damaging |
Het |
Arap3 |
G |
A |
18: 38,108,636 (GRCm39) |
R1265W |
probably damaging |
Het |
Arhgef37 |
A |
G |
18: 61,651,121 (GRCm39) |
Y135H |
probably damaging |
Het |
Armh3 |
A |
C |
19: 45,963,691 (GRCm39) |
S42R |
probably benign |
Het |
Atp1a1 |
T |
C |
3: 101,489,333 (GRCm39) |
T760A |
probably benign |
Het |
Cdc42bpb |
T |
A |
12: 111,289,255 (GRCm39) |
M497L |
probably benign |
Het |
Ces5a |
C |
T |
8: 94,240,859 (GRCm39) |
V413M |
probably damaging |
Het |
Chd5 |
A |
T |
4: 152,470,263 (GRCm39) |
Y1903F |
probably damaging |
Het |
Chd9 |
T |
A |
8: 91,737,422 (GRCm39) |
N1500K |
probably benign |
Het |
Chmp7 |
G |
T |
14: 69,957,248 (GRCm39) |
D303E |
probably benign |
Het |
Chrnb4 |
A |
T |
9: 54,942,102 (GRCm39) |
Y391N |
possibly damaging |
Het |
Crtc1 |
T |
C |
8: 70,840,802 (GRCm39) |
T475A |
probably benign |
Het |
Cyp2c69 |
A |
G |
19: 39,865,972 (GRCm39) |
I207T |
probably benign |
Het |
Dcp1a |
A |
G |
14: 30,240,940 (GRCm39) |
E250G |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,586,398 (GRCm39) |
Q649R |
probably benign |
Het |
Defb12 |
T |
A |
8: 19,162,754 (GRCm39) |
K59N |
probably damaging |
Het |
Dpy19l3 |
A |
T |
7: 35,429,185 (GRCm39) |
I85N |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,122,739 (GRCm39) |
|
probably null |
Het |
Ebi3 |
T |
A |
17: 56,263,679 (GRCm39) |
Y197N |
probably damaging |
Het |
Emc1 |
G |
A |
4: 139,102,823 (GRCm39) |
R994Q |
probably benign |
Het |
Ercc6 |
G |
T |
14: 32,268,777 (GRCm39) |
M530I |
probably damaging |
Het |
Evl |
T |
A |
12: 108,619,255 (GRCm39) |
D70E |
probably damaging |
Het |
Fbln2 |
A |
G |
6: 91,242,757 (GRCm39) |
N819S |
probably damaging |
Het |
Foxk2 |
A |
G |
11: 121,176,363 (GRCm39) |
I170V |
probably benign |
Het |
Gfm1 |
T |
C |
3: 67,342,943 (GRCm39) |
V159A |
probably damaging |
Het |
Gm10837 |
A |
G |
14: 122,728,177 (GRCm39) |
T18A |
unknown |
Het |
Gm12887 |
A |
T |
4: 121,479,227 (GRCm39) |
V25E |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,435,243 (GRCm39) |
H985R |
possibly damaging |
Het |
Hsfy2 |
A |
G |
1: 56,675,791 (GRCm39) |
Y249H |
possibly damaging |
Het |
Hspg2 |
T |
C |
4: 137,272,878 (GRCm39) |
V2639A |
probably damaging |
Het |
Igf2r |
A |
G |
17: 12,923,157 (GRCm39) |
|
probably null |
Het |
Invs |
T |
A |
4: 48,422,035 (GRCm39) |
I889N |
probably damaging |
Het |
Kcnq1 |
A |
T |
7: 142,736,857 (GRCm39) |
M209L |
probably benign |
Het |
Klra7 |
A |
G |
6: 130,206,957 (GRCm39) |
I48T |
possibly damaging |
Het |
Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
Lrif1 |
T |
A |
3: 106,640,127 (GRCm39) |
V404D |
probably damaging |
Het |
Lrriq1 |
T |
A |
10: 103,063,034 (GRCm39) |
|
probably null |
Het |
Lypd6 |
T |
A |
2: 50,078,774 (GRCm39) |
I90N |
possibly damaging |
Het |
Mbp |
A |
G |
18: 82,602,247 (GRCm39) |
D174G |
probably damaging |
Het |
Megf9 |
G |
T |
4: 70,453,022 (GRCm39) |
P13Q |
probably damaging |
Het |
Myo15b |
A |
T |
11: 115,760,412 (GRCm39) |
T1155S |
probably benign |
Het |
Nherf2 |
C |
T |
17: 24,860,693 (GRCm39) |
S150N |
possibly damaging |
Het |
Nlrp6 |
T |
A |
7: 140,503,006 (GRCm39) |
C371S |
probably damaging |
Het |
Nosip |
T |
A |
7: 44,726,733 (GRCm39) |
|
probably null |
Het |
Nox3 |
G |
T |
17: 3,720,153 (GRCm39) |
P344H |
probably damaging |
Het |
Nup210l |
T |
C |
3: 90,079,393 (GRCm39) |
V959A |
probably damaging |
Het |
Or10d1 |
A |
G |
9: 39,484,031 (GRCm39) |
Y175H |
possibly damaging |
Het |
Or2b2b |
C |
A |
13: 21,858,842 (GRCm39) |
V91L |
probably benign |
Het |
Or2k2 |
T |
C |
4: 58,785,384 (GRCm39) |
I113V |
probably benign |
Het |
Or5b119 |
A |
G |
19: 13,457,295 (GRCm39) |
I89T |
probably benign |
Het |
Or5k8 |
T |
A |
16: 58,644,440 (GRCm39) |
I211F |
probably damaging |
Het |
Osbpl3 |
A |
C |
6: 50,347,123 (GRCm39) |
S25A |
probably damaging |
Het |
Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
Pax7 |
G |
A |
4: 139,511,802 (GRCm39) |
R260C |
probably damaging |
Het |
Pcdh1 |
T |
A |
18: 38,325,278 (GRCm39) |
|
probably null |
Het |
Pcnx1 |
T |
C |
12: 82,027,709 (GRCm39) |
L1585P |
probably damaging |
Het |
Pde4c |
C |
T |
8: 71,200,599 (GRCm39) |
H362Y |
probably damaging |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Pgm1 |
A |
T |
4: 99,818,675 (GRCm39) |
Q90L |
probably damaging |
Het |
Phlpp1 |
A |
G |
1: 106,271,235 (GRCm39) |
H814R |
probably benign |
Het |
Pknox2 |
A |
T |
9: 36,866,127 (GRCm39) |
M5K |
possibly damaging |
Het |
Pole |
G |
A |
5: 110,478,701 (GRCm39) |
|
probably null |
Het |
Polr1b |
A |
G |
2: 128,944,886 (GRCm39) |
I61V |
probably benign |
Het |
Prelp |
T |
C |
1: 133,842,495 (GRCm39) |
K217E |
probably damaging |
Het |
Prkce |
C |
T |
17: 86,782,974 (GRCm39) |
Q202* |
probably null |
Het |
Psmd2 |
T |
G |
16: 20,475,332 (GRCm39) |
M370R |
probably benign |
Het |
Rimklb |
A |
T |
6: 122,440,968 (GRCm39) |
H68Q |
probably damaging |
Het |
Rnasel |
A |
G |
1: 153,630,420 (GRCm39) |
D312G |
possibly damaging |
Het |
Rxrg |
A |
T |
1: 167,426,321 (GRCm39) |
M1L |
probably benign |
Het |
Scrn1 |
A |
G |
6: 54,499,826 (GRCm39) |
F220L |
possibly damaging |
Het |
Scyl3 |
A |
G |
1: 163,778,244 (GRCm39) |
S461G |
probably benign |
Het |
Serpina1c |
T |
A |
12: 103,861,282 (GRCm39) |
T411S |
probably benign |
Het |
Serpinb6d |
C |
T |
13: 33,855,364 (GRCm39) |
P346L |
probably benign |
Het |
Shld2 |
A |
G |
14: 33,989,760 (GRCm39) |
I382T |
probably benign |
Het |
Spg21 |
G |
T |
9: 65,372,618 (GRCm39) |
V17F |
probably damaging |
Het |
Spink5 |
A |
T |
18: 44,132,958 (GRCm39) |
M525L |
probably benign |
Het |
Sun2 |
T |
C |
15: 79,621,764 (GRCm39) |
T155A |
probably benign |
Het |
Tchh |
T |
A |
3: 93,354,087 (GRCm39) |
F1176I |
unknown |
Het |
Tex15 |
T |
A |
8: 34,066,682 (GRCm39) |
D2037E |
probably benign |
Het |
Tfdp2 |
T |
C |
9: 96,199,857 (GRCm39) |
C392R |
possibly damaging |
Het |
Tmem30c |
T |
C |
16: 57,097,143 (GRCm39) |
N139S |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,021,568 (GRCm39) |
|
probably null |
Het |
Trim66 |
T |
C |
7: 109,075,046 (GRCm39) |
E405G |
probably damaging |
Het |
Trpc4 |
T |
A |
3: 54,187,415 (GRCm39) |
F456I |
probably benign |
Het |
Tspo2 |
T |
C |
17: 48,755,818 (GRCm39) |
D108G |
possibly damaging |
Het |
Tyk2 |
A |
T |
9: 21,032,850 (GRCm39) |
C304* |
probably null |
Het |
Vgll4 |
A |
T |
6: 114,839,756 (GRCm39) |
S185T |
probably benign |
Het |
Vmn2r94 |
A |
C |
17: 18,464,732 (GRCm39) |
S519R |
probably benign |
Het |
Vmn2r96 |
T |
G |
17: 18,818,183 (GRCm39) |
S587A |
probably benign |
Het |
Vps4b |
C |
A |
1: 106,706,712 (GRCm39) |
A287S |
possibly damaging |
Het |
Yeats2 |
C |
T |
16: 20,048,314 (GRCm39) |
P1332S |
probably benign |
Het |
Zfp462 |
T |
G |
4: 55,010,010 (GRCm39) |
S659A |
possibly damaging |
Het |
Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
Zfp764l1 |
A |
C |
7: 126,990,660 (GRCm39) |
D442E |
probably benign |
Het |
Zswim5 |
G |
T |
4: 116,734,896 (GRCm39) |
E80D |
unknown |
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 |
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 |
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'- TTGAATTGCATATTGAGACCCTGTC -3'
(R):5'- AACTGAACCTAGGACCTTGAAC -3'
Sequencing Primer
(F):5'- CTGTCTCTTCCCTGAAAAGGAAAAG -3'
(R):5'- TGAACCTAGGACCTTGAACTTAAGC -3'
|
Posted On |
2014-06-23 |