Incidental Mutation 'IGL02458:Smarcc1'
ID 294531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smarcc1
Ensembl Gene ENSMUSG00000032481
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1
Synonyms BAF155, SRG3, msp3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02458
Quality Score
Status
Chromosome 9
Chromosomal Location 109961129-110069773 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 109961194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000095958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088716] [ENSMUST00000098355] [ENSMUST00000197480] [ENSMUST00000197984] [ENSMUST00000199896]
AlphaFold P97496
Predicted Effect unknown
Transcript: ENSMUST00000088716
AA Change: T4A
SMART Domains Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481
AA Change: T4A

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
CHROMO 214 260 3.06e-3 SMART
low complexity region 321 333 N/A INTRINSIC
Pfam:SWIRM 450 536 1.7e-33 PFAM
SANT 618 666 4.52e-12 SMART
Pfam:SWIRM-assoc_3 705 771 9.6e-35 PFAM
low complexity region 830 839 N/A INTRINSIC
Pfam:SWIRM-assoc_1 870 953 2.5e-34 PFAM
low complexity region 955 973 N/A INTRINSIC
low complexity region 986 1031 N/A INTRINSIC
low complexity region 1043 1058 N/A INTRINSIC
low complexity region 1075 1104 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098355
SMART Domains Protein: ENSMUSP00000095958
Gene: ENSMUSG00000032481

DomainStartEndE-ValueType
low complexity region 62 71 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000197480
AA Change: T4A
SMART Domains Protein: ENSMUSP00000142629
Gene: ENSMUSG00000032481
AA Change: T4A

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
CHROMO 214 260 3.06e-3 SMART
low complexity region 321 333 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000197984
AA Change: T4A
SMART Domains Protein: ENSMUSP00000142611
Gene: ENSMUSG00000032481
AA Change: T4A

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
CHROMO 214 260 3.06e-3 SMART
low complexity region 321 333 N/A INTRINSIC
Pfam:SWIRM 448 536 1.4e-35 PFAM
SANT 618 666 4.52e-12 SMART
low complexity region 710 717 N/A INTRINSIC
low complexity region 723 734 N/A INTRINSIC
low complexity region 768 781 N/A INTRINSIC
low complexity region 830 839 N/A INTRINSIC
low complexity region 866 885 N/A INTRINSIC
coiled coil region 909 945 N/A INTRINSIC
low complexity region 955 973 N/A INTRINSIC
low complexity region 986 1031 N/A INTRINSIC
low complexity region 1043 1058 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000199896
AA Change: T4A
SMART Domains Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481
AA Change: T4A

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
CHROMO 214 260 3.06e-3 SMART
low complexity region 321 333 N/A INTRINSIC
Pfam:SWIRM 450 536 1.5e-33 PFAM
SANT 618 666 4.52e-12 SMART
Pfam:SWIRM-assoc_3 705 771 1.4e-34 PFAM
low complexity region 830 839 N/A INTRINSIC
Pfam:SWIRM-assoc_1 870 953 1.4e-34 PFAM
low complexity region 955 973 N/A INTRINSIC
low complexity region 986 1031 N/A INTRINSIC
low complexity region 1043 1058 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200237
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, whose members display helicase and ATPase activities and which 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 and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out mutation display early embryonic lethality soon after decidualization due to failed egg cylinder formation and defects in the inner cell mass and primitive endoderm. About 20% of heterozygous mutant embryos show exencephaly caused by failure in neural fold elevation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,206,844 (GRCm39) I37L probably benign Het
Alpk1 A G 3: 127,474,968 (GRCm39) probably null Het
Ankrd33 T C 15: 101,014,488 (GRCm39) F8L probably damaging Het
Avil A G 10: 126,852,222 (GRCm39) K669R probably benign Het
Bcor G T X: 11,914,749 (GRCm39) L1165I probably damaging Het
C7 A G 15: 5,088,871 (GRCm39) probably benign Het
Cc2d2a A G 5: 43,875,896 (GRCm39) I958V probably benign Het
Cenpe A T 3: 134,935,869 (GRCm39) K435* probably null Het
Chrna7 G A 7: 62,755,842 (GRCm39) L235F probably damaging Het
Col6a3 C A 1: 90,706,919 (GRCm39) V2065L unknown Het
Copb1 A T 7: 113,846,020 (GRCm39) N183K probably benign Het
Cpn2 G A 16: 30,079,653 (GRCm39) A16V probably benign Het
Cul1 A G 6: 47,502,542 (GRCm39) K769E possibly damaging Het
Deup1 C T 9: 15,503,656 (GRCm39) V302M probably benign Het
Dnah17 T C 11: 117,927,176 (GRCm39) K3871E probably damaging Het
Dnah6 A G 6: 73,004,431 (GRCm39) V3844A probably benign Het
Dnah7a A T 1: 53,657,487 (GRCm39) L763* probably null Het
Donson A T 16: 91,478,064 (GRCm39) W461R probably damaging Het
Dpp10 T C 1: 123,269,418 (GRCm39) I664V probably benign Het
Dusp8 T A 7: 141,636,484 (GRCm39) T369S probably benign Het
Dync2h1 A T 9: 7,117,422 (GRCm39) L56Q probably damaging Het
Ecd A T 14: 20,374,545 (GRCm39) S532T probably benign Het
Frg2f1 G A 4: 119,388,154 (GRCm39) T115I probably damaging Het
Gpatch2l A G 12: 86,335,735 (GRCm39) probably benign Het
Gtf3c2 T A 5: 31,316,867 (GRCm39) probably null Het
Haghl T C 17: 26,002,470 (GRCm39) probably benign Het
Hoxc8 A T 15: 102,901,181 (GRCm39) N208I probably damaging Het
Igf2 T C 7: 142,207,785 (GRCm39) D115G probably benign Het
Jag2 T A 12: 112,879,613 (GRCm39) D385V probably damaging Het
Laptm4b A G 15: 34,258,888 (GRCm39) H54R probably benign Het
Lrp2 A G 2: 69,352,117 (GRCm39) S640P probably damaging Het
Map3k8 A C 18: 4,334,660 (GRCm39) V328G probably damaging Het
Mfsd13a A G 19: 46,360,686 (GRCm39) E388G probably damaging Het
Ms4a13 G A 19: 11,149,292 (GRCm39) T168I probably benign Het
Mtg1 C A 7: 139,730,085 (GRCm39) Q294K probably benign Het
Myh3 C T 11: 66,987,766 (GRCm39) A1413V possibly damaging Het
Neo1 A T 9: 58,801,150 (GRCm39) probably benign Het
Ogfod3 T C 11: 121,091,749 (GRCm39) E119G probably benign Het
Or10ak9 A G 4: 118,726,497 (GRCm39) N173S possibly damaging Het
Or2t49 A T 11: 58,393,073 (GRCm39) M109K probably benign Het
Or4a77 A G 2: 89,487,692 (GRCm39) L31P probably damaging Het
Or5ak20 G A 2: 85,184,006 (GRCm39) T88I probably benign Het
Or6c210 A T 10: 129,496,475 (GRCm39) I267F probably benign Het
Parvb G T 15: 84,187,635 (GRCm39) D248Y probably damaging Het
Pcdh11x A T X: 119,310,315 (GRCm39) H586L possibly damaging Het
Phactr2 T C 10: 13,137,572 (GRCm39) E120G probably damaging Het
Ppfibp2 A T 7: 107,342,171 (GRCm39) Q775L probably damaging Het
Rcbtb1 A G 14: 59,467,443 (GRCm39) Y427C probably damaging Het
Rftn2 A T 1: 55,250,351 (GRCm39) C131* probably null Het
Rigi A G 4: 40,229,536 (GRCm39) S83P probably damaging Het
Rps6ka2 A G 17: 7,556,402 (GRCm39) D474G probably benign Het
Rsbn1l T C 5: 21,156,734 (GRCm39) E17G probably damaging Het
Ryr2 T C 13: 11,720,585 (GRCm39) M2688V probably benign Het
Slc22a18 C A 7: 143,046,574 (GRCm39) probably benign Het
Soat2 T C 15: 102,070,550 (GRCm39) V451A probably damaging Het
Sptlc2 A T 12: 87,356,667 (GRCm39) probably benign Het
Tada1 C T 1: 166,220,203 (GRCm39) L308F probably damaging Het
Tango2 A T 16: 18,128,731 (GRCm39) probably null Het
Tbc1d15 A T 10: 115,065,111 (GRCm39) V158D probably damaging Het
Tmx2 A T 2: 84,503,588 (GRCm39) probably benign Het
Tpte T A 8: 22,795,874 (GRCm39) I79K probably benign Het
Trav6-1 A G 14: 52,876,199 (GRCm39) I40V probably benign Het
Trgv3 A G 13: 19,427,423 (GRCm39) Y102C probably damaging Het
Ubash3a T C 17: 31,450,455 (GRCm39) S377P possibly damaging Het
Vmn2r7 T C 3: 64,600,446 (GRCm39) D575G probably damaging Het
Vps41 A G 13: 19,037,649 (GRCm39) D704G possibly damaging Het
Vwa5a T C 9: 38,638,259 (GRCm39) S261P possibly damaging Het
Zc3hav1 A G 6: 38,317,264 (GRCm39) V112A probably damaging Het
Other mutations in Smarcc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Smarcc1 APN 9 110,051,005 (GRCm39) missense probably damaging 1.00
IGL01152:Smarcc1 APN 9 109,968,693 (GRCm39) missense possibly damaging 0.89
IGL01353:Smarcc1 APN 9 109,964,734 (GRCm39) missense probably benign 0.07
IGL01401:Smarcc1 APN 9 109,979,033 (GRCm39) missense possibly damaging 0.52
IGL01483:Smarcc1 APN 9 110,051,128 (GRCm39) nonsense probably null
IGL01679:Smarcc1 APN 9 110,042,598 (GRCm39) missense probably damaging 1.00
IGL02498:Smarcc1 APN 9 110,020,002 (GRCm39) missense probably damaging 1.00
IGL02605:Smarcc1 APN 9 110,051,068 (GRCm39) missense possibly damaging 0.86
IGL03003:Smarcc1 APN 9 110,035,168 (GRCm39) missense probably damaging 0.97
IGL03284:Smarcc1 APN 9 110,004,142 (GRCm39) missense probably benign 0.30
R0116:Smarcc1 UTSW 9 109,976,172 (GRCm39) missense possibly damaging 0.71
R0403:Smarcc1 UTSW 9 110,066,876 (GRCm39) splice site probably null
R1436:Smarcc1 UTSW 9 109,947,708 (GRCm39) unclassified probably benign
R1583:Smarcc1 UTSW 9 110,042,685 (GRCm39) missense probably damaging 1.00
R1692:Smarcc1 UTSW 9 110,003,072 (GRCm39) missense possibly damaging 0.85
R1732:Smarcc1 UTSW 9 110,014,888 (GRCm39) splice site probably benign
R1833:Smarcc1 UTSW 9 109,982,879 (GRCm39) missense possibly damaging 0.71
R1881:Smarcc1 UTSW 9 110,004,167 (GRCm39) missense probably damaging 1.00
R2058:Smarcc1 UTSW 9 109,947,411 (GRCm39) unclassified probably benign
R2175:Smarcc1 UTSW 9 109,993,877 (GRCm39) missense possibly damaging 0.71
R2215:Smarcc1 UTSW 9 110,066,907 (GRCm39) utr 3 prime probably benign
R2904:Smarcc1 UTSW 9 110,003,043 (GRCm39) missense possibly damaging 0.80
R3899:Smarcc1 UTSW 9 109,947,586 (GRCm39) unclassified probably benign
R3900:Smarcc1 UTSW 9 109,947,586 (GRCm39) unclassified probably benign
R4012:Smarcc1 UTSW 9 109,961,273 (GRCm39) missense possibly damaging 0.96
R4091:Smarcc1 UTSW 9 109,993,897 (GRCm39) missense possibly damaging 0.84
R4356:Smarcc1 UTSW 9 110,025,324 (GRCm39) missense probably damaging 0.99
R4881:Smarcc1 UTSW 9 109,964,696 (GRCm39) start gained probably benign
R4993:Smarcc1 UTSW 9 110,004,129 (GRCm39) missense probably damaging 1.00
R5110:Smarcc1 UTSW 9 110,026,852 (GRCm39) missense possibly damaging 0.89
R5375:Smarcc1 UTSW 9 110,020,017 (GRCm39) missense probably damaging 0.99
R5655:Smarcc1 UTSW 9 109,986,412 (GRCm39) missense probably null 1.00
R5715:Smarcc1 UTSW 9 110,025,435 (GRCm39) missense possibly damaging 0.95
R5767:Smarcc1 UTSW 9 109,961,251 (GRCm39) intron probably benign
R5816:Smarcc1 UTSW 9 110,026,712 (GRCm39) missense possibly damaging 0.51
R6969:Smarcc1 UTSW 9 110,025,388 (GRCm39) missense probably damaging 1.00
R7068:Smarcc1 UTSW 9 110,014,952 (GRCm39) missense probably damaging 1.00
R7211:Smarcc1 UTSW 9 109,979,082 (GRCm39) missense probably damaging 0.97
R7558:Smarcc1 UTSW 9 109,976,184 (GRCm39) missense probably damaging 0.96
R7903:Smarcc1 UTSW 9 110,033,334 (GRCm39) missense probably benign 0.01
R8190:Smarcc1 UTSW 9 110,031,602 (GRCm39) missense probably benign
R8695:Smarcc1 UTSW 9 110,002,972 (GRCm39) missense probably damaging 0.98
R8842:Smarcc1 UTSW 9 110,051,199 (GRCm39) missense possibly damaging 0.60
R9024:Smarcc1 UTSW 9 110,015,001 (GRCm39) missense probably damaging 0.99
R9131:Smarcc1 UTSW 9 109,964,710 (GRCm39) missense possibly damaging 0.73
R9180:Smarcc1 UTSW 9 109,964,728 (GRCm39) missense probably damaging 1.00
R9279:Smarcc1 UTSW 9 109,996,792 (GRCm39) missense possibly damaging 0.69
R9352:Smarcc1 UTSW 9 110,035,220 (GRCm39) missense probably null 1.00
R9538:Smarcc1 UTSW 9 109,961,272 (GRCm39) missense probably benign 0.00
R9645:Smarcc1 UTSW 9 109,986,410 (GRCm39) missense probably damaging 1.00
T0722:Smarcc1 UTSW 9 110,035,153 (GRCm39) missense possibly damaging 0.86
Posted On 2015-04-16