Incidental Mutation 'IGL00970:Eif3c'
ID 27910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3c
Ensembl Gene ENSMUSG00000030738
Gene Name eukaryotic translation initiation factor 3, subunit C
Synonyms 110kDa, Xs, 3230401O13Rik, NIPIL(A3), Xsl, Eif3s8
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00970
Quality Score
Status
Chromosome 7
Chromosomal Location 126146083-126165538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126158180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 259 (P259S)
Ref Sequence ENSEMBL: ENSMUSP00000032992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032992] [ENSMUST00000180459] [ENSMUST00000205949]
AlphaFold Q8R1B4
Predicted Effect probably benign
Transcript: ENSMUST00000032992
AA Change: P259S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: P259S

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
Pfam:eIF-3c_N 29 703 9.6e-267 PFAM
PINT 776 864 9.7e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122504
Predicted Effect probably benign
Transcript: ENSMUST00000180459
SMART Domains Protein: ENSMUSP00000138023
Gene: ENSMUSG00000030738

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 113 126 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205949
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations in this gene result in a range of abnormal limb development, including polydactyly, and white coat spotting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,144,149 (GRCm39) N910K possibly damaging Het
Atp8b5 A G 4: 43,311,938 (GRCm39) T184A probably benign Het
Cabp7 T C 11: 4,688,931 (GRCm39) I180V probably benign Het
Casp8ap2 A G 4: 32,646,182 (GRCm39) T1752A probably benign Het
Dgkb T C 12: 38,240,082 (GRCm39) L453P probably damaging Het
Disp2 A C 2: 118,622,274 (GRCm39) D1002A probably damaging Het
Eif4a3l1 A G 6: 136,306,109 (GRCm39) D169G probably damaging Het
Fam227b A T 2: 125,968,980 (GRCm39) D31E probably benign Het
Farp2 T C 1: 93,488,049 (GRCm39) V92A probably benign Het
Fhod1 C A 8: 106,058,734 (GRCm39) V745L possibly damaging Het
Gprin3 T C 6: 59,330,822 (GRCm39) E495G possibly damaging Het
Grm5 T C 7: 87,453,104 (GRCm39) I247T probably damaging Het
Herc2 T C 7: 55,830,812 (GRCm39) probably benign Het
Hoatz T A 9: 50,994,886 (GRCm39) K148* probably null Het
Hspg2 C A 4: 137,269,901 (GRCm39) Q2311K probably benign Het
Krt26 T C 11: 99,222,107 (GRCm39) Y400C probably benign Het
Lct A T 1: 128,231,805 (GRCm39) D681E probably damaging Het
Lgalsl G T 11: 20,776,493 (GRCm39) P133Q probably benign Het
Man2b2 C T 5: 36,973,487 (GRCm39) W76* probably null Het
Mylk4 T C 13: 32,899,905 (GRCm39) E326G probably damaging Het
Odam T G 5: 88,034,467 (GRCm39) probably benign Het
Pabpc4 T C 4: 123,180,608 (GRCm39) I110T probably damaging Het
Pcdh15 A T 10: 74,215,172 (GRCm39) D47V probably damaging Het
Plekhg4 C T 8: 106,105,067 (GRCm39) R577C probably benign Het
Pnpo C A 11: 96,834,618 (GRCm39) C26F possibly damaging Het
Polg T C 7: 79,101,493 (GRCm39) I1071M probably benign Het
Prr23a2 A G 9: 98,739,014 (GRCm39) D124G probably benign Het
Rexo1 C T 10: 80,386,798 (GRCm39) V87I probably damaging Het
Robo2 C A 16: 73,693,934 (GRCm39) V1502L probably benign Het
Ruvbl2 A G 7: 45,078,994 (GRCm39) L50P possibly damaging Het
Ryr3 T C 2: 112,595,021 (GRCm39) K2534E probably damaging Het
Scfd2 T C 5: 74,691,595 (GRCm39) H229R possibly damaging Het
Sesn3 A G 9: 14,232,438 (GRCm39) D237G probably damaging Het
Shank1 T C 7: 44,003,662 (GRCm39) S1785P possibly damaging Het
Slc11a1 A G 1: 74,419,821 (GRCm39) T165A probably damaging Het
Star G A 8: 26,302,894 (GRCm39) probably null Het
Trpc6 A T 9: 8,653,152 (GRCm39) N575Y probably damaging Het
Unc5d T C 8: 29,186,456 (GRCm39) T598A probably benign Het
Vmn1r200 A T 13: 22,579,893 (GRCm39) Q232L probably damaging Het
Wdr31 T C 4: 62,375,757 (GRCm39) T233A probably damaging Het
Zzef1 G A 11: 72,806,071 (GRCm39) R2669Q probably benign Het
Other mutations in Eif3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01380:Eif3c APN 7 126,163,585 (GRCm39) intron probably benign
IGL01434:Eif3c APN 7 126,155,582 (GRCm39) missense probably damaging 0.99
IGL01534:Eif3c APN 7 126,156,867 (GRCm39) missense probably benign 0.07
IGL02493:Eif3c APN 7 126,158,073 (GRCm39) missense probably damaging 0.98
IGL02544:Eif3c APN 7 126,146,784 (GRCm39) nonsense probably null
IGL02821:Eif3c APN 7 126,157,831 (GRCm39) missense probably benign
IGL02963:Eif3c APN 7 126,155,992 (GRCm39) missense probably benign 0.00
R0194:Eif3c UTSW 7 126,157,795 (GRCm39) unclassified probably benign
R0421:Eif3c UTSW 7 126,162,884 (GRCm39) missense possibly damaging 0.95
R1486:Eif3c UTSW 7 126,163,893 (GRCm39) missense probably damaging 1.00
R2378:Eif3c UTSW 7 126,151,497 (GRCm39) missense probably damaging 0.99
R4135:Eif3c UTSW 7 126,165,471 (GRCm39) unclassified probably benign
R4223:Eif3c UTSW 7 126,165,471 (GRCm39) unclassified probably benign
R4225:Eif3c UTSW 7 126,165,471 (GRCm39) unclassified probably benign
R4898:Eif3c UTSW 7 126,156,626 (GRCm39) missense probably benign 0.03
R5144:Eif3c UTSW 7 126,162,238 (GRCm39) missense probably benign
R5246:Eif3c UTSW 7 126,156,410 (GRCm39) missense possibly damaging 0.66
R5845:Eif3c UTSW 7 126,163,927 (GRCm39) missense probably damaging 0.99
R6495:Eif3c UTSW 7 126,146,672 (GRCm39) missense probably damaging 1.00
R6884:Eif3c UTSW 7 126,156,051 (GRCm39) missense probably benign 0.01
R7236:Eif3c UTSW 7 126,151,495 (GRCm39) missense possibly damaging 0.63
R7691:Eif3c UTSW 7 126,151,162 (GRCm39) missense possibly damaging 0.95
R7744:Eif3c UTSW 7 126,158,066 (GRCm39) missense probably damaging 1.00
R8492:Eif3c UTSW 7 126,162,282 (GRCm39) missense probably damaging 1.00
R8523:Eif3c UTSW 7 126,147,069 (GRCm39) missense possibly damaging 0.96
R8779:Eif3c UTSW 7 126,162,900 (GRCm39) missense possibly damaging 0.95
R8827:Eif3c UTSW 7 126,157,894 (GRCm39) missense probably damaging 1.00
R9015:Eif3c UTSW 7 126,155,538 (GRCm39) missense probably damaging 1.00
R9394:Eif3c UTSW 7 126,156,550 (GRCm39) missense probably benign
R9711:Eif3c UTSW 7 126,146,674 (GRCm39) missense possibly damaging 0.46
X0065:Eif3c UTSW 7 126,151,257 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17