Incidental Mutation 'IGL02675:Pbrm1'
ID 303095
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 # IGL02675
Quality Score
Status
Chromosome 14
Chromosomal Location 30741095-30843549 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30828244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1341 (L1341P)
Ref Sequence ENSEMBL: ENSMUSP00000123546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022471] [ENSMUST00000022474] [ENSMUST00000052239] [ENSMUST00000064032] [ENSMUST00000090214] [ENSMUST00000112092] [ENSMUST00000112094] [ENSMUST00000156628] [ENSMUST00000112098] [ENSMUST00000112095] [ENSMUST00000203261] [ENSMUST00000136237] [ENSMUST00000123678]
AlphaFold Q8BSQ9
Predicted Effect possibly damaging
Transcript: ENSMUST00000022471
AA Change: L1342P

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000022471
Gene: ENSMUSG00000042323
AA Change: L1342P

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: L1357P

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022474
Gene: ENSMUSG00000042323
AA Change: L1357P

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 benign
Transcript: ENSMUST00000052239
SMART Domains Protein: ENSMUSP00000060476
Gene: ENSMUSG00000042323

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 benign
Transcript: ENSMUST00000064032
SMART Domains Protein: ENSMUSP00000067418
Gene: ENSMUSG00000058351

DomainStartEndE-ValueType
Pfam:UPF0640 2 68 9.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090214
AA Change: L1342P

PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087682
Gene: ENSMUSG00000042323
AA Change: L1342P

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 possibly damaging
Transcript: ENSMUST00000112092
AA Change: L1357P

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107721
Gene: ENSMUSG00000042323
AA Change: L1357P

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 possibly damaging
Transcript: ENSMUST00000112094
AA Change: L1310P

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107723
Gene: ENSMUSG00000042323
AA Change: L1310P

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 possibly damaging
Transcript: ENSMUST00000156628
AA Change: L1341P

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123546
Gene: ENSMUSG00000042323
AA Change: L1341P

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 possibly damaging
Transcript: ENSMUST00000112098
AA Change: L1357P

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107727
Gene: ENSMUSG00000042323
AA Change: L1357P

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: ENSMUST00000112095
AA Change: L1342P

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107724
Gene: ENSMUSG00000042323
AA Change: L1342P

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 probably benign
Transcript: ENSMUST00000203261
SMART Domains Protein: ENSMUSP00000145018
Gene: ENSMUSG00000058351

DomainStartEndE-ValueType
Pfam:UPF0640 2 68 9.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136237
SMART Domains Protein: ENSMUSP00000119722
Gene: ENSMUSG00000042323

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 probably benign
Transcript: ENSMUST00000123678
SMART Domains Protein: ENSMUSP00000120549
Gene: ENSMUSG00000042323

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,936,184 (GRCm39) I204T probably damaging Het
Anxa8 A G 14: 33,815,371 (GRCm39) D150G probably damaging Het
Arel1 T C 12: 84,977,002 (GRCm39) T438A probably damaging Het
Asphd1 T C 7: 126,546,006 (GRCm39) probably benign Het
Bcl2l12 A T 7: 44,640,824 (GRCm39) probably benign Het
Cand1 A G 10: 119,055,602 (GRCm39) I87T probably damaging Het
Ccdc80 A C 16: 44,936,695 (GRCm39) T707P probably damaging Het
Ccn6 A G 10: 39,027,236 (GRCm39) V332A possibly damaging Het
Cdh9 T A 15: 16,849,162 (GRCm39) probably null Het
Chrd T C 16: 20,558,699 (GRCm39) probably benign Het
Cpn1 T C 19: 43,969,369 (GRCm39) Q98R probably benign Het
D630045J12Rik A G 6: 38,172,420 (GRCm39) S583P possibly damaging Het
Dnah7a A G 1: 53,543,183 (GRCm39) I2329T possibly damaging Het
Egln3 A G 12: 54,249,996 (GRCm39) S118P probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Hapln3 C T 7: 78,767,596 (GRCm39) probably null Het
Heatr3 T C 8: 88,871,185 (GRCm39) F180L possibly damaging Het
Herc2 T A 7: 55,813,849 (GRCm39) S2661T probably damaging Het
Hook3 A T 8: 26,551,462 (GRCm39) L126Q possibly damaging Het
Hoxd8 T G 2: 74,536,930 (GRCm39) L214R probably damaging Het
Ifna1 T G 4: 88,768,670 (GRCm39) L116R probably damaging Het
Il31ra T A 13: 112,660,886 (GRCm39) T487S probably benign Het
Kifc2 C T 15: 76,547,179 (GRCm39) R252W probably damaging Het
Meox2 A G 12: 37,228,333 (GRCm39) D290G probably damaging Het
Micu2 A G 14: 58,182,834 (GRCm39) probably benign Het
Myh9 T C 15: 77,673,130 (GRCm39) T406A possibly damaging Het
Naip1 T A 13: 100,545,626 (GRCm39) M1301L probably benign Het
Pcna-ps2 C A 19: 9,261,323 (GRCm39) A194E probably benign Het
Pdcd10 G A 3: 75,434,901 (GRCm39) T130I probably damaging Het
Pprc1 G A 19: 46,051,946 (GRCm39) G491D probably damaging Het
Prss57 A G 10: 79,623,309 (GRCm39) V46A probably benign Het
Ptcd3 A G 6: 71,860,426 (GRCm39) probably null Het
Riok1 C T 13: 38,234,219 (GRCm39) P262S probably damaging Het
Rnf13 A G 3: 57,686,817 (GRCm39) N70S probably benign Het
Skint7 T A 4: 111,839,178 (GRCm39) D157E probably benign Het
Sri T C 5: 8,117,534 (GRCm39) F191S probably damaging Het
Stat5b T C 11: 100,678,200 (GRCm39) R638G probably benign Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Tmem19 A G 10: 115,178,478 (GRCm39) L281P probably damaging Het
Tmf1 A G 6: 97,141,003 (GRCm39) probably benign Het
Trio A G 15: 27,768,125 (GRCm39) probably benign Het
Usp28 T C 9: 48,950,391 (GRCm39) I940T possibly damaging Het
Zfp280d T A 9: 72,219,504 (GRCm39) I227K probably benign Het
Zfp335 A G 2: 164,752,609 (GRCm39) V45A probably benign Het
Other mutations in Pbrm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16