Incidental Mutation 'T0722:Smarcc1'
ID 67336
Institutional Source Beutler Lab
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 # T0722 (G3) of strain 711
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 109961129-110069773 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110035153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 859 (E859K)
Ref Sequence ENSEMBL: ENSMUSP00000143550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088716] [ENSMUST00000197984] [ENSMUST00000199896]
AlphaFold P97496
Predicted Effect possibly damaging
Transcript: ENSMUST00000088716
AA Change: E859K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000086094
Gene: ENSMUSG00000032481
AA Change: E859K

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 possibly damaging
Transcript: ENSMUST00000197984
AA Change: E859K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142611
Gene: ENSMUSG00000032481
AA Change: E859K

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 noncoding transcript
Transcript: ENSMUST00000198667
Predicted Effect possibly damaging
Transcript: ENSMUST00000199896
AA Change: E859K

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143550
Gene: ENSMUSG00000032481
AA Change: E859K

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
Meta Mutation Damage Score 0.0589 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 95% (42/44)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A G 12: 113,453,197 (GRCm39) T5A possibly damaging Het
Adam6b T A 12: 113,454,888 (GRCm39) D568E probably benign Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ago3 T G 4: 126,298,089 (GRCm39) T144P probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Atp6v1g3 T A 1: 138,201,591 (GRCm39) probably benign Het
Azin2 A G 4: 128,839,927 (GRCm39) Y222H probably benign Het
Bicd2 C A 13: 49,533,127 (GRCm39) P571Q probably benign Het
Camta2 A G 11: 70,574,831 (GRCm39) I75T probably damaging Het
Casp1 A T 9: 5,299,851 (GRCm39) H108L probably benign Het
Cdk5r1 G T 11: 80,368,707 (GRCm39) V125F probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 73,215,878 (GRCm39) probably benign Het
Cngb1 A G 8: 96,023,278 (GRCm39) M240T probably benign Het
Cngb1 G A 8: 96,030,342 (GRCm39) probably benign Het
Cngb1 T C 8: 96,030,324 (GRCm39) probably benign Het
Cngb1 G T 8: 96,024,447 (GRCm39) Q205K probably damaging Het
Cog8 G T 8: 107,775,625 (GRCm39) L580I probably benign Het
Copa A G 1: 171,939,515 (GRCm39) E593G possibly damaging Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cwf19l2 T C 9: 3,456,755 (GRCm39) F696S probably benign Het
Ddi2 G A 4: 141,440,784 (GRCm39) probably benign Het
Eml5 T C 12: 98,807,841 (GRCm39) D984G probably null Het
Fam135b T G 15: 71,335,734 (GRCm39) T487P probably damaging Het
Fstl3 A G 10: 79,615,997 (GRCm39) Y161C probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm8186 C T 17: 26,318,101 (GRCm39) R32Q probably benign Het
Jakmip1 C A 5: 37,276,247 (GRCm39) A519D probably damaging Het
Jcad G T 18: 4,675,531 (GRCm39) A1098S probably benign Het
Klhl14 T C 18: 21,691,192 (GRCm39) Y446C probably damaging Het
Lims1 A G 10: 58,254,277 (GRCm39) N344D probably benign Het
Marco A T 1: 120,402,441 (GRCm39) W502R probably damaging Het
Mmp13 G T 9: 7,280,857 (GRCm39) M413I possibly damaging Het
Mmp25 G A 17: 23,850,192 (GRCm39) A456V possibly damaging Het
Msi2 A T 11: 88,285,423 (GRCm39) M207K probably damaging Het
Myh8 G A 11: 67,195,262 (GRCm39) R1692Q probably benign Het
Nbas A G 12: 13,402,809 (GRCm39) I788V probably benign Het
Nup188 A G 2: 30,212,693 (GRCm39) D632G probably damaging Het
Opa1 T C 16: 29,429,748 (GRCm39) probably null Het
Or12k7 T G 2: 36,958,449 (GRCm39) L44R probably damaging Het
Or1n2 T C 2: 36,797,582 (GRCm39) V208A probably benign Het
Or4c114 A G 2: 88,905,303 (GRCm39) V44A probably benign Het
Or5w17 T A 2: 87,583,467 (GRCm39) Y290F probably damaging Het
Pabpc1l G A 2: 163,884,340 (GRCm39) G359D possibly damaging Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Psma5-ps A G 10: 85,149,457 (GRCm39) noncoding transcript Het
Qser1 A G 2: 104,617,177 (GRCm39) C1122R possibly damaging Het
Rfx8 A G 1: 39,722,772 (GRCm39) S282P probably damaging Het
Sec14l2 C T 11: 4,053,673 (GRCm39) probably null Het
Sim2 C A 16: 93,910,281 (GRCm39) H228N probably benign Het
Slc15a2 A G 16: 36,772,445 (GRCm38) M179T probably benign Het
Slc30a6 T A 17: 74,719,319 (GRCm39) probably null Het
Snx1 CTT CTTGTT 9: 66,012,209 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Spta1 A G 1: 174,018,632 (GRCm39) probably benign Het
Sytl1 C A 4: 132,984,162 (GRCm39) probably benign Het
Sytl1 A G 4: 132,984,164 (GRCm39) probably benign Het
Tent4a G A 13: 69,655,074 (GRCm39) R224* probably null Het
Terf2 T C 8: 107,803,306 (GRCm39) K425E probably benign Het
Tmem26 A G 10: 68,614,548 (GRCm39) E321G probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Uck2 A T 1: 167,062,280 (GRCm39) D149E probably benign Het
Wnt5a G A 14: 28,233,882 (GRCm39) A17T probably benign Het
Yif1b T C 7: 28,938,038 (GRCm39) probably null Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign 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
IGL02458:Smarcc1 APN 9 109,961,194 (GRCm39) intron probably benign
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
Predicted Primers PCR Primer
(F):5'- TGGACGCATACCTAAATGCAGGGG -3'
(R):5'- TGGTGGCCTTCACAAAGCTAAAGAC -3'

Sequencing Primer
(F):5'- GGGTGATTCACTGAAACTCTGAAAC -3'
(R):5'- GGGATTTCTTAACCTAGAAATGCC -3'
Posted On 2013-09-03