Incidental Mutation 'IGL00598:Pbrm1'
ID 4221
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pbrm1
Ensembl Gene ENSMUSG00000042323
Gene Name polybromo 1
Synonyms 2310032M22Rik, BAF180, 2610016F04Rik, Pb1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00598
Quality Score
Status
Chromosome 14
Chromosomal Location 30741095-30843549 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30752884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 107 (D107G)
Ref Sequence ENSEMBL: ENSMUSP00000107727 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022471] [ENSMUST00000022474] [ENSMUST00000052239] [ENSMUST00000090214] [ENSMUST00000112092] [ENSMUST00000112094] [ENSMUST00000112098] [ENSMUST00000146325] [ENSMUST00000136237] [ENSMUST00000123678] [ENSMUST00000135704] [ENSMUST00000112095] [ENSMUST00000156628] [ENSMUST00000144009] [ENSMUST00000112106]
AlphaFold Q8BSQ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000022471
AA Change: D107G

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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: D107G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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: D107G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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: D107G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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: D107G

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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: D107G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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: D107G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000146325
AA Change: D128G

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000122805
Gene: ENSMUSG00000042323
AA Change: D128G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000136237
AA Change: D107G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119722
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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: ENSMUST00000123678
AA Change: D107G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120549
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000135704
AA Change: D51G

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115505
Gene: ENSMUSG00000042323
AA Change: D51G

DomainStartEndE-ValueType
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: ENSMUST00000112095
AA Change: D107G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000156628
AA Change: D107G

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000123546
Gene: ENSMUSG00000042323
AA Change: D107G

DomainStartEndE-ValueType
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: ENSMUST00000145497
Predicted Effect probably benign
Transcript: ENSMUST00000144009
SMART Domains Protein: ENSMUSP00000123518
Gene: ENSMUSG00000042323

DomainStartEndE-ValueType
Blast:BROMO 40 68 8e-14 BLAST
PDB:3IU5|A 64 84 8e-9 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000112106
SMART Domains Protein: ENSMUSP00000107734
Gene: ENSMUSG00000042323

DomainStartEndE-ValueType
Blast:BROMO 61 91 6e-16 BLAST
PDB:3IU5|A 61 91 6e-17 PDB
Coding Region Coverage
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh11 T C 8: 103,377,281 (GRCm39) N455S probably damaging Het
Cimip4 C T 15: 78,270,438 (GRCm39) G110D probably damaging Het
Clock T C 5: 76,377,311 (GRCm39) I663V probably benign Het
Farp2 A T 1: 93,531,103 (GRCm39) M534L probably benign Het
Gm5464 C T 14: 67,106,836 (GRCm39) probably benign Het
Ncoa1 T A 12: 4,328,218 (GRCm39) R873S probably benign Het
Neb G A 2: 52,098,313 (GRCm39) T4616I possibly damaging Het
Pdcd7 A T 9: 65,263,700 (GRCm39) K223* probably null Het
Ppp2r5b A G 19: 6,280,998 (GRCm39) F277S probably damaging Het
Ripor1 G A 8: 106,348,065 (GRCm39) probably benign Het
Serpina12 G A 12: 103,997,373 (GRCm39) H383Y probably benign Het
Other mutations in Pbrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2012-04-20