Incidental Mutation 'IGL01448:Smarce1'
ID 84531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smarce1
Ensembl Gene ENSMUSG00000037935
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Synonyms 2810417B20Rik, BAF57, 9030408N19Rik, 5830412H02Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01448
Quality Score
Status
Chromosome 11
Chromosomal Location 99209047-99231017 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 99210187 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 373 (G373E)
Ref Sequence ENSEMBL: ENSMUSP00000099422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103133]
AlphaFold O54941
Predicted Effect possibly damaging
Transcript: ENSMUST00000103133
AA Change: G373E

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099422
Gene: ENSMUSG00000037935
AA Change: G373E

DomainStartEndE-ValueType
low complexity region 5 23 N/A INTRINSIC
HMG 65 135 8.37e-15 SMART
low complexity region 149 163 N/A INTRINSIC
Blast:HMG 165 205 1e-20 BLAST
coiled coil region 222 319 N/A INTRINSIC
low complexity region 395 411 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156160
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 part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik A T 2: 130,405,847 (GRCm38) E75D possibly damaging Het
1700084J12Rik A G 15: 33,405,633 (GRCm38) probably benign Het
2610303G11Rik T A 9: 98,186,709 (GRCm38) noncoding transcript Het
4931414P19Rik T C 14: 54,585,960 (GRCm38) D320G possibly damaging Het
Adamts6 G A 13: 104,297,164 (GRCm38) E34K probably damaging Het
Alms1 T A 6: 85,677,899 (GRCm38) N3142K possibly damaging Het
Anapc7 G A 5: 122,428,213 (GRCm38) A62T probably damaging Het
Atp8b3 G A 10: 80,520,422 (GRCm38) P1152L probably benign Het
Cc2d2a C T 5: 43,684,185 (GRCm38) T181I possibly damaging Het
Celsr2 A G 3: 108,393,239 (GRCm38) L2835P probably damaging Het
Ctns A T 11: 73,188,722 (GRCm38) V99D possibly damaging Het
Dchs1 T C 7: 105,771,927 (GRCm38) R429G probably damaging Het
Ddx11 T C 17: 66,134,137 (GRCm38) V218A probably damaging Het
Eftud2 G A 11: 102,865,563 (GRCm38) probably benign Het
Erich1 G T 8: 14,078,853 (GRCm38) T29N possibly damaging Het
Exosc8 T C 3: 54,729,265 (GRCm38) E215G probably damaging Het
Fam184a G T 10: 53,698,949 (GRCm38) A188E probably benign Het
Fign A G 2: 63,979,688 (GRCm38) S413P probably damaging Het
Fkbp6 A G 5: 135,349,696 (GRCm38) S33P probably damaging Het
Glb1 A G 9: 114,450,677 (GRCm38) probably benign Het
H2-Q1 T C 17: 35,323,461 (GRCm38) probably benign Het
Helz2 T C 2: 181,233,977 (GRCm38) T1575A probably damaging Het
Il18r1 A G 1: 40,474,730 (GRCm38) E32G probably damaging Het
Ints5 C T 19: 8,895,487 (GRCm38) P270L possibly damaging Het
Itga7 G T 10: 128,949,468 (GRCm38) E847* probably null Het
Kcns3 A C 12: 11,091,643 (GRCm38) S352A possibly damaging Het
Kiz A G 2: 146,863,801 (GRCm38) K94E probably benign Het
Lin7b C T 7: 45,369,200 (GRCm38) V12M probably damaging Het
Myo18b A T 5: 112,811,704 (GRCm38) I1409N probably damaging Het
Myo5b A G 18: 74,644,090 (GRCm38) H407R probably damaging Het
Nelfa T C 5: 33,898,802 (GRCm38) T506A probably damaging Het
Olfr497 T A 7: 108,423,028 (GRCm38) Y152* probably null Het
Olfr763 A G 10: 129,011,860 (GRCm38) T192A probably damaging Het
Olfr816 A G 10: 129,912,245 (GRCm38) I11T possibly damaging Het
Olfr984 A T 9: 40,101,082 (GRCm38) M136K probably damaging Het
Pclo A C 5: 14,676,394 (GRCm38) probably benign Het
Pes1 G A 11: 3,977,979 (GRCm38) E544K possibly damaging Het
Rabgap1l A G 1: 160,740,745 (GRCm38) probably benign Het
Rapgef2 T C 3: 79,068,937 (GRCm38) M1521V probably benign Het
Rapgef2 C T 3: 79,103,962 (GRCm38) probably null Het
Reln A G 5: 22,040,405 (GRCm38) V735A probably benign Het
Slc2a4 A G 11: 69,945,076 (GRCm38) S316P possibly damaging Het
Spata31d1a T A 13: 59,701,559 (GRCm38) R918S probably benign Het
St3gal4 T C 9: 35,052,331 (GRCm38) K227R probably benign Het
Stra6l T A 4: 45,864,864 (GRCm38) probably null Het
Stxbp5l T C 16: 37,215,979 (GRCm38) I425V probably damaging Het
Tcaf2 T C 6: 42,630,328 (GRCm38) T231A probably benign Het
Tiparp G T 3: 65,552,609 (GRCm38) G442* probably null Het
Tnks A G 8: 34,839,982 (GRCm38) Y1138H probably damaging Het
Vezt T A 10: 93,996,857 (GRCm38) I231F probably damaging Het
Vmn2r4 A T 3: 64,406,395 (GRCm38) N388K probably damaging Het
Zbed3 A G 13: 95,336,634 (GRCm38) K189E possibly damaging Het
Zfp512b T C 2: 181,587,785 (GRCm38) T625A possibly damaging Het
Zfp827 A T 8: 79,060,733 (GRCm38) Q176L possibly damaging Het
Other mutations in Smarce1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01477:Smarce1 APN 11 99,210,187 (GRCm38) missense possibly damaging 0.69
IGL02256:Smarce1 APN 11 99,219,380 (GRCm38) missense possibly damaging 0.63
R0524:Smarce1 UTSW 11 99,214,062 (GRCm38) missense probably damaging 1.00
R4721:Smarce1 UTSW 11 99,220,717 (GRCm38) missense probably benign 0.01
R4953:Smarce1 UTSW 11 99,215,151 (GRCm38) missense probably benign 0.45
R5002:Smarce1 UTSW 11 99,225,063 (GRCm38) missense probably damaging 0.99
R7605:Smarce1 UTSW 11 99,228,292 (GRCm38) missense probably benign
R8007:Smarce1 UTSW 11 99,225,050 (GRCm38) missense possibly damaging 0.95
R8670:Smarce1 UTSW 11 99,210,272 (GRCm38) missense possibly damaging 0.61
R8977:Smarce1 UTSW 11 99,219,685 (GRCm38) missense possibly damaging 0.56
R9519:Smarce1 UTSW 11 99,214,107 (GRCm38) missense probably benign 0.01
Z1176:Smarce1 UTSW 11 99,210,095 (GRCm38) missense unknown
Posted On 2013-11-11