Incidental Mutation 'IGL03213:Smarca2'
ID 413390
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 # IGL03213
Quality Score
Status
Chromosome 19
Chromosomal Location 26582578-26755721 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26601375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 31 (G31D)
Ref Sequence ENSEMBL: ENSMUSP00000146859 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025862] [ENSMUST00000099537] [ENSMUST00000176030] [ENSMUST00000176584] [ENSMUST00000176769] [ENSMUST00000208163]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000025862
AA Change: G107D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025862
Gene: ENSMUSG00000024921
AA Change: G107D

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 probably damaging
Transcript: ENSMUST00000099537
AA Change: G107D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097135
Gene: ENSMUSG00000024921
AA Change: G107D

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 probably damaging
Transcript: ENSMUST00000176030
AA Change: G107D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135784
Gene: ENSMUSG00000024921
AA Change: G107D

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 damaging
Transcript: ENSMUST00000176584
AA Change: G31D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135344
Gene: ENSMUSG00000024921
AA Change: G31D

DomainStartEndE-ValueType
low complexity region 22 37 N/A INTRINSIC
low complexity region 59 78 N/A INTRINSIC
QLQ 96 132 2.58e-13 SMART
low complexity region 140 172 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000176769
AA Change: G107D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135017
Gene: ENSMUSG00000024921
AA Change: G107D

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 noncoding transcript
Transcript: ENSMUST00000177262
Predicted Effect probably damaging
Transcript: ENSMUST00000208163
AA Change: G31D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177453
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A T 2: 22,831,971 (GRCm39) D447E probably damaging Het
Aldh8a1 T C 10: 21,260,616 (GRCm39) V175A probably damaging Het
Aoc1l3 A G 6: 48,965,279 (GRCm39) D429G possibly damaging Het
Arap2 T A 5: 62,906,438 (GRCm39) T194S probably benign Het
Arih2 T C 9: 108,484,546 (GRCm39) T422A probably damaging Het
Arl5b T A 2: 15,074,676 (GRCm39) N52K probably damaging Het
Atg13 G A 2: 91,515,512 (GRCm39) H227Y probably damaging Het
Ccdc178 T C 18: 22,253,748 (GRCm39) T164A possibly damaging Het
Cep192 T C 18: 67,998,708 (GRCm39) V2074A probably damaging Het
Ces2c T C 8: 105,574,672 (GRCm39) I43T probably benign Het
Chrm3 G A 13: 9,928,220 (GRCm39) T272I probably benign Het
Cln8 A G 8: 14,944,845 (GRCm39) Y53C probably damaging Het
Cwc27 T A 13: 104,932,911 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,892,529 (GRCm39) probably benign Het
Dchs1 G T 7: 105,404,279 (GRCm39) N2754K probably damaging Het
Dclk1 A T 3: 55,387,805 (GRCm39) K84* probably null Het
Ednra T C 8: 78,446,848 (GRCm39) T77A probably benign Het
Epn2 T C 11: 61,410,510 (GRCm39) N553D probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gm10784 T A 13: 50,099,310 (GRCm39) noncoding transcript Het
Gtf2e2 T C 8: 34,242,525 (GRCm39) F76L probably damaging Het
Hnrnpll A T 17: 80,341,527 (GRCm39) V504E probably damaging Het
Ifitm2 A G 7: 140,535,677 (GRCm39) V51A possibly damaging Het
Il16 C T 7: 83,295,708 (GRCm39) E456K probably damaging Het
Lmod2 A T 6: 24,603,615 (GRCm39) I197F possibly damaging Het
Lrrc14 T C 15: 76,597,983 (GRCm39) S238P possibly damaging Het
Map3k1 A G 13: 111,885,426 (GRCm39) probably benign Het
Phf11d C A 14: 59,586,797 (GRCm39) R210S probably benign Het
Pigu T C 2: 155,177,291 (GRCm39) N103S probably damaging Het
Rgsl1 A G 1: 153,701,587 (GRCm39) V289A probably benign Het
Rp1l1 T A 14: 64,265,864 (GRCm39) S483R probably damaging Het
Ryr2 A T 13: 11,739,273 (GRCm39) probably benign Het
Sema3c T G 5: 17,899,637 (GRCm39) probably benign Het
Septin4 G T 11: 87,458,184 (GRCm39) probably null Het
Sfmbt2 A G 2: 10,409,385 (GRCm39) Y110C probably damaging Het
Slc12a3 T C 8: 95,061,933 (GRCm39) V328A possibly damaging Het
Spmip1 G A 6: 29,471,792 (GRCm39) M89I probably damaging Het
Tenm2 T G 11: 35,914,157 (GRCm39) E2460A probably benign Het
Trim58 T A 11: 58,541,993 (GRCm39) W318R probably benign Het
Ube3a C T 7: 58,935,870 (GRCm39) Q585* probably null Het
Vmn2r17 T C 5: 109,582,256 (GRCm39) probably null Het
Zfp647 A G 15: 76,796,177 (GRCm39) V161A possibly 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
IGL02110:Smarca2 APN 19 26,650,140 (GRCm39) missense possibly damaging 0.96
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
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 2016-08-02