Incidental Mutation 'IGL01516:Smarcd1'
ID 90390
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smarcd1
Ensembl Gene ENSMUSG00000023018
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Synonyms D15Kz1, Baf60a
Accession Numbers
Essential gene? Probably essential (E-score: 0.874) question?
Stock # IGL01516
Quality Score
Status
Chromosome 15
Chromosomal Location 99600175-99611872 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 99610094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 442 (F442L)
Ref Sequence ENSEMBL: ENSMUSP00000155750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023759] [ENSMUST00000229236]
AlphaFold Q61466
Predicted Effect probably benign
Transcript: ENSMUST00000023759
AA Change: F483L

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018
AA Change: F483L

DomainStartEndE-ValueType
low complexity region 9 38 N/A INTRINSIC
low complexity region 103 117 N/A INTRINSIC
Blast:KISc 124 271 2e-43 BLAST
SWIB 291 370 1.97e-35 SMART
Blast:MYSc 452 498 2e-17 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161529
Predicted Effect probably benign
Transcript: ENSMUST00000229236
AA Change: F442L

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230748
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 has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A G 13: 59,838,548 (GRCm39) S95P probably benign Het
Abca6 T A 11: 110,109,043 (GRCm39) H709L possibly damaging Het
Bpifb1 A G 2: 154,060,172 (GRCm39) Y455C probably benign Het
Clk1 G A 1: 58,453,563 (GRCm39) T341I probably damaging Het
Corin A T 5: 72,611,830 (GRCm39) Y77* probably null Het
Cps1 C T 1: 67,269,443 (GRCm39) R1481C probably damaging Het
Cspg5 A G 9: 110,075,761 (GRCm39) K166E probably benign Het
Dcxr A G 11: 120,616,584 (GRCm39) probably null Het
Epha5 C A 5: 84,534,135 (GRCm39) L65F probably damaging Het
Erbb4 T A 1: 68,367,404 (GRCm39) K438* probably null Het
Gldc A T 19: 30,076,432 (GRCm39) C1005S probably damaging Het
Hs3st5 C T 10: 36,709,047 (GRCm39) T194I probably damaging Het
Hspa12a T A 19: 58,816,108 (GRCm39) D45V probably benign Het
Il1rn C T 2: 24,239,551 (GRCm39) T130I probably damaging Het
Klk1b22 G T 7: 43,765,732 (GRCm39) C196F probably damaging Het
Lamp1 C T 8: 13,223,863 (GRCm39) H332Y probably damaging Het
Limd2 T C 11: 106,049,870 (GRCm39) T40A probably benign Het
Lztr1 G A 16: 17,340,255 (GRCm39) probably null Het
Mbd4 T C 6: 115,826,491 (GRCm39) T167A probably damaging Het
Mitf T A 6: 97,987,351 (GRCm39) probably null Het
Mlph A G 1: 90,867,112 (GRCm39) D378G probably damaging Het
Mrgprb5 A T 7: 47,818,132 (GRCm39) L201Q probably damaging Het
Myo5b A T 18: 74,760,266 (GRCm39) I261F probably damaging Het
Or8b3b C T 9: 38,584,159 (GRCm39) V207I probably benign Het
Or9s23 A T 1: 92,501,165 (GRCm39) I91F probably benign Het
Paics T A 5: 77,104,578 (GRCm39) L68I probably damaging Het
Pramel15 A G 4: 144,104,337 (GRCm39) V56A probably damaging Het
Prkca C T 11: 107,852,428 (GRCm39) V102M probably null Het
Ptpn21 G A 12: 98,681,448 (GRCm39) T62I probably damaging Het
Ptpre A T 7: 135,266,728 (GRCm39) E212V probably damaging Het
Rufy2 A C 10: 62,847,212 (GRCm39) K539Q possibly damaging Het
Serpinb9d T A 13: 33,386,654 (GRCm39) probably null Het
Tas2r115 A G 6: 132,714,576 (GRCm39) V125A probably damaging Het
Tmem154 C T 3: 84,591,897 (GRCm39) H120Y probably benign Het
Tnrc6b A G 15: 80,786,823 (GRCm39) K1321E possibly damaging Het
Trmt13 A G 3: 116,383,459 (GRCm39) probably benign Het
Tsbp1 A G 17: 34,668,234 (GRCm39) D168G possibly damaging Het
Vmn1r19 T C 6: 57,381,857 (GRCm39) F137L probably benign Het
Vmn1r202 T A 13: 22,685,632 (GRCm39) T262S possibly damaging Het
Vmn2r57 A G 7: 41,049,370 (GRCm39) V793A probably damaging Het
Wapl A G 14: 34,414,038 (GRCm39) N300S probably damaging Het
Xpot T A 10: 121,426,127 (GRCm39) probably null Het
Zfp784 G A 7: 5,039,036 (GRCm39) probably benign Het
Zfyve26 G T 12: 79,334,625 (GRCm39) P131Q probably benign Het
Other mutations in Smarcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Smarcd1 APN 15 99,610,302 (GRCm39) missense probably damaging 1.00
IGL02488:Smarcd1 APN 15 99,609,082 (GRCm39) missense possibly damaging 0.83
P0021:Smarcd1 UTSW 15 99,610,242 (GRCm39) splice site probably benign
R0597:Smarcd1 UTSW 15 99,608,975 (GRCm39) missense probably damaging 1.00
R0645:Smarcd1 UTSW 15 99,605,267 (GRCm39) splice site probably null
R1531:Smarcd1 UTSW 15 99,605,264 (GRCm39) missense probably damaging 1.00
R1661:Smarcd1 UTSW 15 99,605,519 (GRCm39) critical splice acceptor site probably null
R1857:Smarcd1 UTSW 15 99,607,295 (GRCm39) missense probably damaging 0.97
R3003:Smarcd1 UTSW 15 99,610,065 (GRCm39) missense probably damaging 1.00
R4170:Smarcd1 UTSW 15 99,605,812 (GRCm39) missense probably damaging 1.00
R4964:Smarcd1 UTSW 15 99,605,862 (GRCm39) missense possibly damaging 0.79
R5116:Smarcd1 UTSW 15 99,600,369 (GRCm39) missense probably benign 0.00
R5358:Smarcd1 UTSW 15 99,601,128 (GRCm39) nonsense probably null
R5559:Smarcd1 UTSW 15 99,601,176 (GRCm39) critical splice donor site probably null
R6026:Smarcd1 UTSW 15 99,603,619 (GRCm39) missense probably damaging 1.00
R6424:Smarcd1 UTSW 15 99,602,248 (GRCm39) missense probably damaging 1.00
R6450:Smarcd1 UTSW 15 99,605,766 (GRCm39) missense possibly damaging 0.85
R7126:Smarcd1 UTSW 15 99,607,206 (GRCm39) missense probably damaging 1.00
R8476:Smarcd1 UTSW 15 99,600,305 (GRCm39) missense probably damaging 0.99
R8487:Smarcd1 UTSW 15 99,605,657 (GRCm39) missense probably damaging 0.96
R8872:Smarcd1 UTSW 15 99,608,975 (GRCm39) missense probably damaging 1.00
X0026:Smarcd1 UTSW 15 99,600,330 (GRCm39) missense probably benign 0.13
Posted On 2013-12-09