Incidental Mutation 'IGL03212:Smarca5'
ID413349
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smarca5
Ensembl Gene ENSMUSG00000031715
Gene NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
SynonymsD030040M08Rik, D330027N15Rik, 4933427E24Rik, MommeD4, Snf2h
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03212
Quality Score
Status
Chromosome8
Chromosomal Location80698507-80739497 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80711781 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 642 (N642I)
Ref Sequence ENSEMBL: ENSMUSP00000044361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043359]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043359
AA Change: N642I

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044361
Gene: ENSMUSG00000031715
AA Change: N642I

DomainStartEndE-ValueType
low complexity region 2 53 N/A INTRINSIC
Pfam:DBINO 65 112 1.1e-4 PFAM
low complexity region 145 156 N/A INTRINSIC
DEXDc 175 367 3.9e-46 SMART
Blast:DEXDc 386 421 6e-11 BLAST
HELICc 512 596 6.2e-28 SMART
low complexity region 756 768 N/A INTRINSIC
low complexity region 820 837 N/A INTRINSIC
SANT 840 889 2.3e-7 SMART
SANT 942 1006 3e-7 SMART
low complexity region 1008 1024 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122807
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142470
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150277
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. 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 protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during early embryonic development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,202,926 S657P probably benign Het
Atp2c1 T A 9: 105,445,267 N221I probably damaging Het
Atp5h G T 11: 115,415,771 H155N probably damaging Het
Cd55b A T 1: 130,411,442 N316K probably benign Het
Celsr1 A T 15: 85,930,677 M1861K probably benign Het
Cfap69 T G 5: 5,657,849 probably null Het
Col7a1 C A 9: 108,974,452 P2169Q unknown Het
Cyp2j5 G T 4: 96,663,818 H65N probably damaging Het
Dnah5 T C 15: 28,290,163 V1233A probably benign Het
Fn1 A T 1: 71,641,325 L407* probably null Het
Fpr-rs3 T C 17: 20,623,859 D340G probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glmp T C 3: 88,328,357 S317P probably benign Het
Gm15448 T A 7: 3,823,133 Q287L probably benign Het
Gm5581 A T 6: 131,181,450 noncoding transcript Het
Gm5624 A T 14: 44,560,710 N103K probably benign Het
Gprin3 A G 6: 59,355,028 F98S probably benign Het
Ighmbp2 A G 19: 3,279,942 V104A probably damaging Het
Igkv4-79 A C 6: 69,043,230 S34A probably benign Het
Igsf10 G A 3: 59,328,165 P1532S probably benign Het
Myt1l A G 12: 29,827,820 K490R unknown Het
Olfr1176 T A 2: 88,339,672 Y36N probably damaging Het
Plxna1 T A 6: 89,331,903 T1198S probably damaging Het
Pramel6 A G 2: 87,510,425 D367G probably damaging Het
Rbm28 G T 6: 29,131,275 R10S probably damaging Het
Rdh10 T G 1: 16,107,827 C108G probably benign Het
Rfx7 C A 9: 72,619,161 T1211K probably benign Het
Slc24a5 C A 2: 125,080,830 T141N probably damaging Het
Smchd1 C A 17: 71,443,891 R344L probably damaging Het
Tmx3 T A 18: 90,538,518 I355N probably damaging Het
Tram1l1 G A 3: 124,321,914 G241D possibly damaging Het
Ubr4 A G 4: 139,409,763 T982A probably benign Het
Vmn2r52 T G 7: 10,159,547 H555P possibly damaging Het
Zbtb43 A T 2: 33,454,274 M313K probably benign Het
Zfp942 A T 17: 21,929,464 Y61* probably null Het
Other mutations in Smarca5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00323:Smarca5 APN 8 80714041 missense probably benign 0.10
IGL01138:Smarca5 APN 8 80701076 missense possibly damaging 0.87
IGL01290:Smarca5 APN 8 80727648 missense probably benign
IGL02338:Smarca5 APN 8 80719570 splice site probably benign
IGL03216:Smarca5 APN 8 80719658 missense probably damaging 1.00
Cipher UTSW 8 80719652 missense probably damaging 1.00
Codebook UTSW 8 80733707 missense probably benign
Codex UTSW 8 80710563 missense probably damaging 0.99
Key UTSW 8 80726051 missense probably damaging 1.00
R0254:Smarca5 UTSW 8 80704700 missense probably benign 0.05
R0374:Smarca5 UTSW 8 80736731 missense probably benign 0.30
R0625:Smarca5 UTSW 8 80720686 critical splice donor site probably null
R1065:Smarca5 UTSW 8 80704714 missense probably damaging 1.00
R1164:Smarca5 UTSW 8 80710631 missense probably damaging 1.00
R1709:Smarca5 UTSW 8 80709220 nonsense probably null
R2102:Smarca5 UTSW 8 80704675 missense probably damaging 1.00
R3831:Smarca5 UTSW 8 80728494 missense probably damaging 0.99
R4625:Smarca5 UTSW 8 80710563 missense probably damaging 0.99
R4750:Smarca5 UTSW 8 80733707 missense probably benign
R4822:Smarca5 UTSW 8 80708680 splice site probably null
R4889:Smarca5 UTSW 8 80704697 missense possibly damaging 0.95
R5756:Smarca5 UTSW 8 80710604 missense probably benign
R6120:Smarca5 UTSW 8 80711743 missense probably damaging 0.98
R6582:Smarca5 UTSW 8 80719652 missense probably damaging 1.00
R6939:Smarca5 UTSW 8 80705320 missense possibly damaging 0.63
R6972:Smarca5 UTSW 8 80704751 missense probably damaging 1.00
R6973:Smarca5 UTSW 8 80704751 missense probably damaging 1.00
R7027:Smarca5 UTSW 8 80736726 missense probably benign 0.07
R7376:Smarca5 UTSW 8 80726051 missense probably damaging 1.00
R7514:Smarca5 UTSW 8 80717534 missense probably damaging 1.00
R7962:Smarca5 UTSW 8 80736759 missense probably benign
R8031:Smarca5 UTSW 8 80704682 missense probably damaging 1.00
R8400:Smarca5 UTSW 8 80709127 missense probably benign 0.02
R8798:Smarca5 UTSW 8 80716508 missense probably damaging 1.00
R8817:Smarca5 UTSW 8 80733750 missense probably benign
R8824:Smarca5 UTSW 8 80705332 missense probably benign 0.35
R8905:Smarca5 UTSW 8 80713948 missense probably benign 0.14
Posted On2016-08-02