Incidental Mutation 'IGL00496:Smarcc2'
ID 6081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smarcc2
Ensembl Gene ENSMUSG00000025369
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
Synonyms 5930405J04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.813) question?
Stock # IGL00496
Quality Score
Status
Chromosome 10
Chromosomal Location 128295117-128326351 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128298924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 102 (S102R)
Ref Sequence ENSEMBL: ENSMUSP00000096734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026433] [ENSMUST00000099131] [ENSMUST00000105235] [ENSMUST00000218228]
AlphaFold Q6PDG5
Predicted Effect possibly damaging
Transcript: ENSMUST00000026433
AA Change: S102R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026433
Gene: ENSMUSG00000025369
AA Change: S102R

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
CHROMO 186 235 5.97e-6 SMART
low complexity region 297 307 N/A INTRINSIC
Pfam:SWIRM 424 512 4.9e-38 PFAM
low complexity region 545 557 N/A INTRINSIC
SANT 597 645 9.04e-12 SMART
low complexity region 768 816 N/A INTRINSIC
low complexity region 861 879 N/A INTRINSIC
coiled coil region 906 921 N/A INTRINSIC
low complexity region 948 982 N/A INTRINSIC
low complexity region 985 1010 N/A INTRINSIC
low complexity region 1012 1062 N/A INTRINSIC
low complexity region 1074 1098 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099131
AA Change: S102R

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000096734
Gene: ENSMUSG00000025369
AA Change: S102R

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
CHROMO 186 235 5.97e-6 SMART
low complexity region 297 307 N/A INTRINSIC
Pfam:SWIRM 424 512 3.9e-38 PFAM
SANT 628 676 9.04e-12 SMART
low complexity region 799 847 N/A INTRINSIC
low complexity region 892 910 N/A INTRINSIC
coiled coil region 937 952 N/A INTRINSIC
low complexity region 979 1013 N/A INTRINSIC
low complexity region 1016 1041 N/A INTRINSIC
low complexity region 1043 1093 N/A INTRINSIC
low complexity region 1105 1129 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105235
AA Change: S102R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100868
Gene: ENSMUSG00000025369
AA Change: S102R

DomainStartEndE-ValueType
low complexity region 48 64 N/A INTRINSIC
CHROMO 186 235 5.97e-6 SMART
low complexity region 297 307 N/A INTRINSIC
Pfam:SWIRM 426 512 4.5e-35 PFAM
low complexity region 545 557 N/A INTRINSIC
SANT 597 645 9.04e-12 SMART
Pfam:SWIRM-assoc_3 684 750 4.1e-34 PFAM
low complexity region 768 816 N/A INTRINSIC
Pfam:SWIRM-assoc_1 863 946 1.5e-34 PFAM
low complexity region 948 982 N/A INTRINSIC
low complexity region 985 1010 N/A INTRINSIC
low complexity region 1012 1062 N/A INTRINSIC
low complexity region 1077 1093 N/A INTRINSIC
low complexity region 1108 1123 N/A INTRINSIC
low complexity region 1153 1177 N/A INTRINSIC
low complexity region 1184 1212 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184718
Predicted Effect possibly damaging
Transcript: ENSMUST00000218228
AA Change: S102R

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220384
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a slight increase in embryo weight at E13.5 and die shortly after birth (P0-P3). Mice homozygous for a conditional allele activated in the brain exhibit reduced cerebral cortical size and thickness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933434E20Rik G A 3: 89,960,400 (GRCm39) V14M possibly damaging Het
Adgrg6 C A 10: 14,326,322 (GRCm39) probably null Het
Ankmy1 A G 1: 92,813,988 (GRCm39) L397P probably damaging Het
Atp6v1c1 A G 15: 38,687,100 (GRCm39) K232E probably damaging Het
Cnfn G T 7: 25,067,385 (GRCm39) probably benign Het
Copb2 A G 9: 98,452,371 (GRCm39) T52A probably benign Het
Daw1 A C 1: 83,174,957 (GRCm39) L152F probably damaging Het
Gpr87 A T 3: 59,087,211 (GRCm39) I98K probably damaging Het
Il17a G A 1: 20,802,507 (GRCm39) R72H probably damaging Het
Lmtk2 A G 5: 144,111,512 (GRCm39) Q744R probably benign Het
Micall1 G A 15: 78,999,221 (GRCm39) probably benign Het
Micall2 T C 5: 139,702,083 (GRCm39) T387A probably benign Het
Nckap1 T A 2: 80,336,546 (GRCm39) I1057F possibly damaging Het
Nr1h3 T C 2: 91,020,544 (GRCm39) D263G probably damaging Het
Nrip1 A T 16: 76,090,591 (GRCm39) V322E possibly damaging Het
Pck1 T C 2: 172,995,911 (GRCm39) probably null Het
Ppp3r2 A G 4: 49,681,773 (GRCm39) I59T possibly damaging Het
Pradc1 A G 6: 85,424,948 (GRCm39) probably null Het
Psmd14 A G 2: 61,591,026 (GRCm39) Y32C probably damaging Het
Rrp12 A C 19: 41,866,466 (GRCm39) probably null Het
Scaf8 A T 17: 3,221,409 (GRCm39) I299F unknown Het
Selenoo A G 15: 88,979,875 (GRCm39) D341G probably damaging Het
Slc1a6 C A 10: 78,629,142 (GRCm39) N186K probably damaging Het
Stambpl1 T A 19: 34,217,430 (GRCm39) V423E probably damaging Het
Svep1 A C 4: 58,069,001 (GRCm39) C2928W possibly damaging Het
Tmed9 T C 13: 55,741,334 (GRCm39) Y43H probably benign Het
Ttn T C 2: 76,571,091 (GRCm39) T24855A possibly damaging Het
Usp7 A G 16: 8,512,977 (GRCm39) V795A probably damaging Het
Wdr17 A C 8: 55,112,614 (GRCm39) probably benign Het
Other mutations in Smarcc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01450:Smarcc2 APN 10 128,305,189 (GRCm39) missense probably damaging 1.00
IGL01638:Smarcc2 APN 10 128,323,943 (GRCm39) unclassified probably benign
IGL01663:Smarcc2 APN 10 128,324,846 (GRCm39) unclassified probably benign
IGL02308:Smarcc2 APN 10 128,318,641 (GRCm39) missense probably damaging 1.00
IGL02511:Smarcc2 APN 10 128,297,251 (GRCm39) missense probably damaging 1.00
IGL02633:Smarcc2 APN 10 128,305,556 (GRCm39) missense probably damaging 1.00
IGL03375:Smarcc2 APN 10 128,318,781 (GRCm39) missense probably damaging 0.99
IGL03493:Smarcc2 APN 10 128,297,226 (GRCm39) missense probably damaging 1.00
PIT4403001:Smarcc2 UTSW 10 128,298,893 (GRCm39) missense probably damaging 1.00
R0220:Smarcc2 UTSW 10 128,319,505 (GRCm39) missense probably benign 0.32
R0281:Smarcc2 UTSW 10 128,310,591 (GRCm39) missense probably benign 0.20
R1299:Smarcc2 UTSW 10 128,297,247 (GRCm39) missense probably damaging 1.00
R1447:Smarcc2 UTSW 10 128,305,660 (GRCm39) critical splice donor site probably null
R1466:Smarcc2 UTSW 10 128,310,114 (GRCm39) missense probably damaging 0.98
R1466:Smarcc2 UTSW 10 128,310,114 (GRCm39) missense probably damaging 0.98
R1498:Smarcc2 UTSW 10 128,318,061 (GRCm39) missense probably benign 0.02
R1499:Smarcc2 UTSW 10 128,299,741 (GRCm39) missense probably damaging 0.99
R1616:Smarcc2 UTSW 10 128,318,662 (GRCm39) missense probably damaging 1.00
R1718:Smarcc2 UTSW 10 128,304,867 (GRCm39) intron probably benign
R1767:Smarcc2 UTSW 10 128,304,951 (GRCm39) missense possibly damaging 0.92
R1792:Smarcc2 UTSW 10 128,299,740 (GRCm39) missense probably damaging 1.00
R1965:Smarcc2 UTSW 10 128,310,627 (GRCm39) missense probably damaging 1.00
R2229:Smarcc2 UTSW 10 128,324,210 (GRCm39) unclassified probably benign
R2286:Smarcc2 UTSW 10 128,299,612 (GRCm39) missense possibly damaging 0.58
R2367:Smarcc2 UTSW 10 128,318,036 (GRCm39) missense possibly damaging 0.86
R2398:Smarcc2 UTSW 10 128,305,551 (GRCm39) missense possibly damaging 0.92
R3084:Smarcc2 UTSW 10 128,324,028 (GRCm39) unclassified probably benign
R3085:Smarcc2 UTSW 10 128,324,028 (GRCm39) unclassified probably benign
R3777:Smarcc2 UTSW 10 128,318,812 (GRCm39) critical splice donor site probably null
R4346:Smarcc2 UTSW 10 128,304,692 (GRCm39) missense probably benign 0.02
R4967:Smarcc2 UTSW 10 128,319,049 (GRCm39) missense probably damaging 0.99
R4992:Smarcc2 UTSW 10 128,310,579 (GRCm39) missense probably damaging 0.99
R5028:Smarcc2 UTSW 10 128,297,314 (GRCm39) missense probably damaging 0.99
R5071:Smarcc2 UTSW 10 128,299,809 (GRCm39) missense probably damaging 1.00
R5095:Smarcc2 UTSW 10 128,305,169 (GRCm39) missense probably damaging 0.99
R5133:Smarcc2 UTSW 10 128,297,342 (GRCm39) critical splice donor site probably null
R5180:Smarcc2 UTSW 10 128,323,231 (GRCm39) unclassified probably benign
R5231:Smarcc2 UTSW 10 128,297,221 (GRCm39) missense probably damaging 1.00
R5240:Smarcc2 UTSW 10 128,316,875 (GRCm39) critical splice donor site probably null
R5401:Smarcc2 UTSW 10 128,301,373 (GRCm39) missense probably damaging 1.00
R5445:Smarcc2 UTSW 10 128,323,943 (GRCm39) unclassified probably benign
R5690:Smarcc2 UTSW 10 128,320,276 (GRCm39) missense probably damaging 1.00
R5694:Smarcc2 UTSW 10 128,319,996 (GRCm39) missense probably benign
R6240:Smarcc2 UTSW 10 128,323,893 (GRCm39) unclassified probably benign
R6545:Smarcc2 UTSW 10 128,319,997 (GRCm39) missense probably benign 0.00
R6713:Smarcc2 UTSW 10 128,323,638 (GRCm39) splice site probably null
R6934:Smarcc2 UTSW 10 128,305,541 (GRCm39) missense probably benign 0.27
R7016:Smarcc2 UTSW 10 128,321,198 (GRCm39) splice site probably null
R7149:Smarcc2 UTSW 10 128,318,598 (GRCm39) missense probably damaging 1.00
R7229:Smarcc2 UTSW 10 128,323,917 (GRCm39) missense unknown
R7395:Smarcc2 UTSW 10 128,321,475 (GRCm39) missense probably damaging 1.00
R7596:Smarcc2 UTSW 10 128,318,662 (GRCm39) missense probably damaging 1.00
R7722:Smarcc2 UTSW 10 128,317,597 (GRCm39) missense possibly damaging 0.72
R8407:Smarcc2 UTSW 10 128,318,190 (GRCm39) missense probably damaging 1.00
R8468:Smarcc2 UTSW 10 128,320,262 (GRCm39) missense probably benign 0.00
R8753:Smarcc2 UTSW 10 128,319,070 (GRCm39) missense probably damaging 1.00
R9023:Smarcc2 UTSW 10 128,301,093 (GRCm39) missense probably damaging 0.98
R9325:Smarcc2 UTSW 10 128,324,076 (GRCm39) missense unknown
R9327:Smarcc2 UTSW 10 128,321,486 (GRCm39) missense probably damaging 1.00
R9331:Smarcc2 UTSW 10 128,323,310 (GRCm39) missense unknown
R9686:Smarcc2 UTSW 10 128,316,775 (GRCm39) missense probably damaging 1.00
R9742:Smarcc2 UTSW 10 128,297,222 (GRCm39) missense probably damaging 1.00
Z1088:Smarcc2 UTSW 10 128,297,303 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20