Incidental Mutation 'IGL02110:Smarca2'
ID 280094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smarca2
Ensembl Gene ENSMUSG00000024921
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Synonyms Snf2l2, brm, 2610209L14Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02110
Quality Score
Status
Chromosome 19
Chromosomal Location 26582578-26755721 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26650140 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 704 (Y704C)
Ref Sequence ENSEMBL: ENSMUSP00000135784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025862] [ENSMUST00000099537] [ENSMUST00000176030] [ENSMUST00000176769]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000025862
AA Change: Y704C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025862
Gene: ENSMUSG00000024921
AA Change: Y704C

DomainStartEndE-ValueType
low complexity region 11 58 N/A INTRINSIC
low complexity region 98 113 N/A INTRINSIC
low complexity region 135 154 N/A INTRINSIC
QLQ 172 208 2.58e-13 SMART
low complexity region 216 264 N/A INTRINSIC
low complexity region 290 314 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
HSA 447 519 1.44e-28 SMART
low complexity region 559 579 N/A INTRINSIC
BRK 601 645 1.9e-19 SMART
DEXDc 731 923 1.34e-36 SMART
Blast:DEXDc 934 966 8e-10 BLAST
low complexity region 1005 1014 N/A INTRINSIC
HELICc 1091 1175 3.84e-23 SMART
low complexity region 1233 1248 N/A INTRINSIC
SnAC 1269 1337 7.29e-28 SMART
low complexity region 1344 1366 N/A INTRINSIC
BROMO 1391 1501 3.13e-41 SMART
low complexity region 1502 1524 N/A INTRINSIC
low complexity region 1526 1540 N/A INTRINSIC
low complexity region 1564 1576 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000099537
AA Change: Y704C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097135
Gene: ENSMUSG00000024921
AA Change: Y704C

DomainStartEndE-ValueType
low complexity region 11 58 N/A INTRINSIC
low complexity region 98 113 N/A INTRINSIC
low complexity region 135 154 N/A INTRINSIC
QLQ 172 208 2.58e-13 SMART
low complexity region 216 264 N/A INTRINSIC
low complexity region 290 314 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
HSA 447 519 1.44e-28 SMART
low complexity region 559 579 N/A INTRINSIC
BRK 601 645 1.9e-19 SMART
DEXDc 731 923 1.34e-36 SMART
Blast:DEXDc 934 966 7e-10 BLAST
low complexity region 1005 1014 N/A INTRINSIC
HELICc 1091 1175 3.84e-23 SMART
low complexity region 1233 1248 N/A INTRINSIC
SnAC 1269 1337 7.29e-28 SMART
low complexity region 1344 1366 N/A INTRINSIC
PDB:2DAT|A 1389 1410 1e-6 PDB
low complexity region 1480 1508 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176019
Predicted Effect possibly damaging
Transcript: ENSMUST00000176030
AA Change: Y704C

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135784
Gene: ENSMUSG00000024921
AA Change: Y704C

DomainStartEndE-ValueType
low complexity region 11 58 N/A INTRINSIC
low complexity region 98 113 N/A INTRINSIC
low complexity region 135 154 N/A INTRINSIC
QLQ 172 208 2.58e-13 SMART
low complexity region 216 264 N/A INTRINSIC
low complexity region 290 314 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
HSA 447 519 1.44e-28 SMART
low complexity region 559 579 N/A INTRINSIC
BRK 601 645 1.9e-19 SMART
DEXDc 731 923 1.34e-36 SMART
Blast:DEXDc 934 966 8e-10 BLAST
low complexity region 1005 1014 N/A INTRINSIC
HELICc 1091 1175 3.84e-23 SMART
low complexity region 1233 1248 N/A INTRINSIC
SnAC 1269 1337 7.29e-28 SMART
low complexity region 1344 1366 N/A INTRINSIC
BROMO 1391 1519 1.74e-39 SMART
low complexity region 1520 1542 N/A INTRINSIC
low complexity region 1544 1558 N/A INTRINSIC
low complexity region 1582 1594 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176769
AA Change: Y704C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135017
Gene: ENSMUSG00000024921
AA Change: Y704C

DomainStartEndE-ValueType
low complexity region 11 58 N/A INTRINSIC
low complexity region 98 113 N/A INTRINSIC
low complexity region 135 154 N/A INTRINSIC
QLQ 172 208 2.58e-13 SMART
low complexity region 216 264 N/A INTRINSIC
low complexity region 290 314 N/A INTRINSIC
low complexity region 394 405 N/A INTRINSIC
HSA 447 519 1.44e-28 SMART
low complexity region 559 579 N/A INTRINSIC
BRK 601 645 1.9e-19 SMART
DEXDc 731 908 4.18e-24 SMART
low complexity region 947 956 N/A INTRINSIC
HELICc 1033 1117 3.84e-23 SMART
low complexity region 1175 1190 N/A INTRINSIC
SnAC 1211 1279 7.29e-28 SMART
low complexity region 1286 1308 N/A INTRINSIC
BROMO 1333 1443 3.13e-41 SMART
low complexity region 1444 1466 N/A INTRINSIC
low complexity region 1468 1482 N/A INTRINSIC
low complexity region 1506 1518 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000208303
AA Change: Y29C
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a targeted mutation in this gene may exhibit infertility and a slightly increased body weight in some genetic backgrounds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e A G 15: 77,598,548 (GRCm39) probably null Het
Arhgef40 C T 14: 52,226,862 (GRCm39) T302M probably damaging Het
Bap1 T C 14: 30,979,371 (GRCm39) L458P probably damaging Het
Bbs12 A G 3: 37,373,336 (GRCm39) E43G probably benign Het
Bod1l C T 5: 41,973,796 (GRCm39) C2506Y probably damaging Het
Ccdc170 A G 10: 4,491,885 (GRCm39) probably null Het
Chpf2 A G 5: 24,796,710 (GRCm39) E552G probably damaging Het
Comp T A 8: 70,826,289 (GRCm39) I23N probably benign Het
Cxcl2 T C 5: 91,052,211 (GRCm39) probably benign Het
Dctn5 T C 7: 121,734,374 (GRCm39) F73L probably damaging Het
Ddx5 T C 11: 106,675,835 (GRCm39) E285G probably damaging Het
Ddx60 T G 8: 62,470,281 (GRCm39) probably null Het
Dhcr24 T A 4: 106,430,998 (GRCm39) I229N probably damaging Het
Dnah7a G A 1: 53,450,739 (GRCm39) T3897I possibly damaging Het
Dvl2 T A 11: 69,898,842 (GRCm39) probably benign Het
Dytn A T 1: 63,686,632 (GRCm39) V346E possibly damaging Het
Eepd1 T C 9: 25,514,698 (GRCm39) probably benign Het
Fbln2 G T 6: 91,211,084 (GRCm39) A343S probably benign Het
Flywch1 T C 17: 23,982,066 (GRCm39) probably null Het
Gckr A T 5: 31,456,082 (GRCm39) T81S possibly damaging Het
Gm6139 T A 5: 129,700,656 (GRCm39) noncoding transcript Het
Gpcpd1 A T 2: 132,372,530 (GRCm39) C657* probably null Het
Greb1l A G 18: 10,515,271 (GRCm39) I89V probably damaging Het
Hdac4 G A 1: 91,912,127 (GRCm39) P421S probably benign Het
Iqca1l A G 5: 24,753,082 (GRCm39) probably benign Het
Klhl1 A G 14: 96,374,039 (GRCm39) L669P probably benign Het
Mios A G 6: 8,215,565 (GRCm39) R254G probably damaging Het
Mmp19 A G 10: 128,630,727 (GRCm39) N116D probably damaging Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Nadsyn1 T C 7: 143,367,164 (GRCm39) Y141C probably damaging Het
Nlrp4d T C 7: 10,116,491 (GRCm39) noncoding transcript Het
Nob1 A T 8: 108,142,804 (GRCm39) *160R probably null Het
Or10ac1 A G 6: 42,515,113 (GRCm39) V281A possibly damaging Het
Or1f12 T A 13: 21,722,112 (GRCm39) Q21L possibly damaging Het
Or1j17 A G 2: 36,578,697 (GRCm39) T228A probably benign Het
Or4k45 C T 2: 111,395,252 (GRCm39) C179Y probably damaging Het
Or51s1 C T 7: 102,558,402 (GRCm39) V215I probably benign Het
Or56b1b C A 7: 108,164,286 (GRCm39) A239S probably damaging Het
Phc1 T C 6: 122,298,994 (GRCm39) D658G possibly damaging Het
Pitx2 T G 3: 129,012,466 (GRCm39) S299A probably damaging Het
Plekha7 C A 7: 115,753,863 (GRCm39) probably null Het
Ptgfr A G 3: 151,541,097 (GRCm39) V137A probably damaging Het
Ptprb T C 10: 116,167,108 (GRCm39) probably benign Het
Rasl2-9 C T 7: 5,128,346 (GRCm39) A195T probably benign Het
Ripor3 T A 2: 167,836,626 (GRCm39) Q121L possibly damaging Het
Sgsh G T 11: 119,243,632 (GRCm39) A30E probably damaging Het
Sis G T 3: 72,836,032 (GRCm39) C852* probably null Het
Slc17a9 A G 2: 180,374,369 (GRCm39) probably benign Het
Slco6b1 A T 1: 96,915,607 (GRCm39) noncoding transcript Het
Spata6 A T 4: 111,642,003 (GRCm39) H291L possibly damaging Het
Stra8 T C 6: 34,907,289 (GRCm39) probably benign Het
Taldo1 T C 7: 140,982,647 (GRCm39) probably benign Het
Tmco6 T C 18: 36,868,219 (GRCm39) probably benign Het
Tmpo A C 10: 90,998,727 (GRCm39) S353R probably damaging Het
Tpr A T 1: 150,311,493 (GRCm39) Q1757L probably damaging Het
Ubn1 T C 16: 4,899,754 (GRCm39) probably benign Het
Vmn2r83 T C 10: 79,327,534 (GRCm39) V714A possibly damaging Het
Zfp407 G T 18: 84,577,165 (GRCm39) A1316D probably benign Het
Zzef1 T A 11: 72,803,938 (GRCm39) I2560N probably damaging Het
Other mutations in Smarca2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Smarca2 APN 19 26,751,694 (GRCm39) missense possibly damaging 0.82
IGL01907:Smarca2 APN 19 26,675,865 (GRCm39) missense possibly damaging 0.59
IGL02039:Smarca2 APN 19 26,693,537 (GRCm39) missense probably damaging 1.00
IGL02561:Smarca2 APN 19 26,693,582 (GRCm39) missense possibly damaging 0.92
IGL02649:Smarca2 APN 19 26,617,986 (GRCm39) missense possibly damaging 0.73
IGL02880:Smarca2 APN 19 26,654,024 (GRCm39) splice site probably benign
IGL03028:Smarca2 APN 19 26,655,712 (GRCm39) splice site probably benign
IGL03187:Smarca2 APN 19 26,650,224 (GRCm39) missense probably damaging 0.98
IGL03213:Smarca2 APN 19 26,601,375 (GRCm39) missense probably damaging 1.00
IGL03354:Smarca2 APN 19 26,597,303 (GRCm39) missense probably benign 0.01
Genghis UTSW 19 26,597,284 (GRCm39) missense possibly damaging 0.53
kraft UTSW 19 26,655,763 (GRCm39) missense probably damaging 0.99
Kublai UTSW 19 26,618,013 (GRCm39) missense probably damaging 1.00
Samarkand UTSW 19 26,631,864 (GRCm39) nonsense probably null
tashkent UTSW 19 26,698,273 (GRCm39) missense probably benign 0.06
Xanadu UTSW 19 26,659,452 (GRCm39) missense possibly damaging 0.52
FR4737:Smarca2 UTSW 19 26,608,399 (GRCm39) unclassified probably benign
PIT1430001:Smarca2 UTSW 19 26,626,493 (GRCm39) missense probably benign 0.35
R0184:Smarca2 UTSW 19 26,669,649 (GRCm39) nonsense probably null
R0306:Smarca2 UTSW 19 26,618,013 (GRCm39) missense probably damaging 1.00
R0538:Smarca2 UTSW 19 26,668,762 (GRCm39) missense probably damaging 0.99
R0565:Smarca2 UTSW 19 26,659,275 (GRCm39) missense possibly damaging 0.71
R0610:Smarca2 UTSW 19 26,668,791 (GRCm39) missense probably damaging 1.00
R0669:Smarca2 UTSW 19 26,683,600 (GRCm39) missense possibly damaging 0.51
R0726:Smarca2 UTSW 19 26,675,803 (GRCm39) missense probably damaging 1.00
R1184:Smarca2 UTSW 19 26,748,333 (GRCm39) splice site probably benign
R1256:Smarca2 UTSW 19 26,659,373 (GRCm39) missense probably benign 0.06
R1299:Smarca2 UTSW 19 26,749,011 (GRCm39) critical splice donor site probably null
R1306:Smarca2 UTSW 19 26,748,388 (GRCm39) missense possibly damaging 0.81
R1381:Smarca2 UTSW 19 26,608,228 (GRCm39) missense probably damaging 1.00
R1400:Smarca2 UTSW 19 26,654,140 (GRCm39) missense probably damaging 0.98
R1415:Smarca2 UTSW 19 26,688,084 (GRCm39) missense probably null 0.72
R1496:Smarca2 UTSW 19 26,608,501 (GRCm39) missense possibly damaging 0.85
R1582:Smarca2 UTSW 19 26,729,305 (GRCm39) missense probably damaging 0.99
R1666:Smarca2 UTSW 19 26,624,434 (GRCm39) missense possibly damaging 0.65
R1668:Smarca2 UTSW 19 26,624,434 (GRCm39) missense possibly damaging 0.65
R1751:Smarca2 UTSW 19 26,617,780 (GRCm39) splice site probably benign
R1861:Smarca2 UTSW 19 26,601,284 (GRCm39) missense probably benign 0.03
R1962:Smarca2 UTSW 19 26,650,124 (GRCm39) nonsense probably null
R1964:Smarca2 UTSW 19 26,650,124 (GRCm39) nonsense probably null
R1998:Smarca2 UTSW 19 26,608,493 (GRCm39) missense probably benign 0.33
R2014:Smarca2 UTSW 19 26,661,305 (GRCm39) missense possibly damaging 0.86
R2255:Smarca2 UTSW 19 26,748,438 (GRCm39) missense probably benign 0.01
R2392:Smarca2 UTSW 19 26,618,050 (GRCm39) critical splice donor site probably null
R2439:Smarca2 UTSW 19 26,668,854 (GRCm39) critical splice donor site probably null
R3030:Smarca2 UTSW 19 26,729,429 (GRCm39) missense possibly damaging 0.84
R3195:Smarca2 UTSW 19 26,661,222 (GRCm39) missense possibly damaging 0.85
R3430:Smarca2 UTSW 19 26,668,749 (GRCm39) missense probably damaging 1.00
R3710:Smarca2 UTSW 19 26,646,290 (GRCm39) unclassified probably benign
R3845:Smarca2 UTSW 19 26,698,273 (GRCm39) missense probably benign 0.06
R4013:Smarca2 UTSW 19 26,661,327 (GRCm39) splice site probably null
R4014:Smarca2 UTSW 19 26,661,327 (GRCm39) splice site probably null
R4016:Smarca2 UTSW 19 26,661,327 (GRCm39) splice site probably null
R4271:Smarca2 UTSW 19 26,698,349 (GRCm39) critical splice donor site probably null
R4471:Smarca2 UTSW 19 26,597,277 (GRCm39) missense possibly damaging 0.86
R4612:Smarca2 UTSW 19 26,753,625 (GRCm39) missense possibly damaging 0.70
R4730:Smarca2 UTSW 19 26,608,073 (GRCm39) missense probably damaging 1.00
R4755:Smarca2 UTSW 19 26,631,883 (GRCm39) missense possibly damaging 0.86
R4999:Smarca2 UTSW 19 26,698,255 (GRCm39) nonsense probably null
R5015:Smarca2 UTSW 19 26,668,788 (GRCm39) missense possibly damaging 0.86
R5320:Smarca2 UTSW 19 26,668,772 (GRCm39) missense probably damaging 1.00
R5393:Smarca2 UTSW 19 26,617,829 (GRCm39) missense probably benign 0.18
R5503:Smarca2 UTSW 19 26,659,446 (GRCm39) missense possibly damaging 0.93
R5503:Smarca2 UTSW 19 26,601,336 (GRCm39) missense probably damaging 0.96
R5715:Smarca2 UTSW 19 26,626,522 (GRCm39) missense probably benign 0.16
R5790:Smarca2 UTSW 19 26,654,124 (GRCm39) missense probably damaging 1.00
R5874:Smarca2 UTSW 19 26,753,469 (GRCm39) intron probably benign
R6209:Smarca2 UTSW 19 26,748,404 (GRCm39) nonsense probably null
R6236:Smarca2 UTSW 19 26,673,613 (GRCm39) missense probably benign 0.33
R6291:Smarca2 UTSW 19 26,608,292 (GRCm39) missense probably damaging 1.00
R6292:Smarca2 UTSW 19 26,608,292 (GRCm39) missense probably damaging 1.00
R6325:Smarca2 UTSW 19 26,655,763 (GRCm39) missense probably damaging 0.99
R6544:Smarca2 UTSW 19 26,608,331 (GRCm39) missense probably damaging 1.00
R6572:Smarca2 UTSW 19 26,656,573 (GRCm39) missense possibly damaging 0.71
R6589:Smarca2 UTSW 19 26,597,284 (GRCm39) missense possibly damaging 0.53
R6601:Smarca2 UTSW 19 26,631,777 (GRCm39) missense probably benign 0.30
R6804:Smarca2 UTSW 19 26,729,286 (GRCm39) missense possibly damaging 0.93
R6922:Smarca2 UTSW 19 26,668,749 (GRCm39) missense probably damaging 1.00
R7047:Smarca2 UTSW 19 26,646,555 (GRCm39) missense possibly damaging 0.83
R7213:Smarca2 UTSW 19 26,624,531 (GRCm39) missense possibly damaging 0.96
R7257:Smarca2 UTSW 19 26,631,864 (GRCm39) nonsense probably null
R7259:Smarca2 UTSW 19 26,631,864 (GRCm39) nonsense probably null
R7479:Smarca2 UTSW 19 26,617,887 (GRCm39) missense probably benign 0.00
R7512:Smarca2 UTSW 19 26,661,209 (GRCm39) missense possibly damaging 0.51
R8158:Smarca2 UTSW 19 26,659,448 (GRCm39) missense probably benign 0.16
R8182:Smarca2 UTSW 19 26,608,120 (GRCm39) missense probably benign 0.39
R8207:Smarca2 UTSW 19 26,654,080 (GRCm39) missense possibly damaging 0.71
R8467:Smarca2 UTSW 19 26,597,121 (GRCm39) start codon destroyed probably null 0.02
R8527:Smarca2 UTSW 19 26,654,187 (GRCm39) missense probably damaging 0.98
R8784:Smarca2 UTSW 19 26,753,558 (GRCm39) missense probably benign 0.17
R8898:Smarca2 UTSW 19 26,608,358 (GRCm39) unclassified probably benign
R9076:Smarca2 UTSW 19 26,659,452 (GRCm39) missense possibly damaging 0.52
R9123:Smarca2 UTSW 19 26,693,583 (GRCm39) missense possibly damaging 0.84
R9125:Smarca2 UTSW 19 26,693,583 (GRCm39) missense possibly damaging 0.84
R9317:Smarca2 UTSW 19 26,737,279 (GRCm39) missense possibly damaging 0.75
R9501:Smarca2 UTSW 19 26,617,977 (GRCm39) missense probably benign 0.04
R9514:Smarca2 UTSW 19 26,659,452 (GRCm39) missense possibly damaging 0.71
R9641:Smarca2 UTSW 19 26,656,498 (GRCm39) missense possibly damaging 0.93
RF001:Smarca2 UTSW 19 26,608,421 (GRCm39) unclassified probably benign
RF001:Smarca2 UTSW 19 26,608,386 (GRCm39) unclassified probably benign
RF004:Smarca2 UTSW 19 26,608,420 (GRCm39) unclassified probably benign
RF019:Smarca2 UTSW 19 26,608,401 (GRCm39) unclassified probably benign
RF021:Smarca2 UTSW 19 26,608,397 (GRCm39) unclassified probably benign
RF024:Smarca2 UTSW 19 26,608,420 (GRCm39) unclassified probably benign
RF034:Smarca2 UTSW 19 26,608,411 (GRCm39) unclassified probably benign
RF040:Smarca2 UTSW 19 26,608,422 (GRCm39) unclassified probably benign
RF041:Smarca2 UTSW 19 26,608,421 (GRCm39) unclassified probably benign
RF047:Smarca2 UTSW 19 26,608,405 (GRCm39) unclassified probably benign
RF051:Smarca2 UTSW 19 26,608,388 (GRCm39) unclassified probably benign
X0061:Smarca2 UTSW 19 26,698,240 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16