Incidental Mutation 'R5144:Eif3c'
ID 395049
Institutional Source Beutler Lab
Gene Symbol Eif3c
Ensembl Gene ENSMUSG00000030738
Gene Name eukaryotic translation initiation factor 3, subunit C
Synonyms 110kDa, Xs, 3230401O13Rik, NIPIL(A3), Xsl, Eif3s8
MMRRC Submission 042728-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5144 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126146083-126165538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126162238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 195 (T195A)
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: T195A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: T195A

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: ENSMUST00000083407
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122504
Predicted Effect unknown
Transcript: ENSMUST00000180459
AA Change: T195A
SMART Domains Protein: ENSMUSP00000138023
Gene: ENSMUSG00000030738
AA Change: T195A

DomainStartEndE-ValueType
low complexity region 6 17 N/A INTRINSIC
low complexity region 113 126 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205949
Meta Mutation Damage Score 0.0801 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency 96% (47/49)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik T A 2: 68,446,604 (GRCm39) probably benign Het
Arpc2 A T 1: 74,287,367 (GRCm39) K62N probably damaging Het
B4galt5 C T 2: 167,148,516 (GRCm39) E201K possibly damaging Het
Bub1b C T 2: 118,445,980 (GRCm39) T334M possibly damaging Het
Ccdc71 T C 9: 108,341,051 (GRCm39) V288A probably benign Het
Cep350 G A 1: 155,786,896 (GRCm39) R1444W probably damaging Het
Chrna4 A G 2: 180,666,623 (GRCm39) L605P probably damaging Het
Col6a5 T A 9: 105,766,482 (GRCm39) I1813F probably damaging Het
Col9a1 A G 1: 24,278,434 (GRCm39) I821V probably benign Het
D430041D05Rik T C 2: 104,088,847 (GRCm39) D43G probably damaging Het
Depdc7 T C 2: 104,560,598 (GRCm39) Y132C probably damaging Het
Dppa2 T C 16: 48,137,666 (GRCm39) V216A probably damaging Het
Ect2l A T 10: 18,020,325 (GRCm39) N598K probably benign Het
Epg5 T C 18: 78,058,895 (GRCm39) V1883A probably damaging Het
Ino80c T A 18: 24,241,935 (GRCm39) D150V probably benign Het
Kcnb1 T A 2: 166,947,864 (GRCm39) Y328F probably damaging Het
Kcnj3 G A 2: 55,337,059 (GRCm39) probably null Het
Ncor1 T G 11: 62,240,290 (GRCm39) S894R probably damaging Het
Nlgn3 G A X: 100,361,891 (GRCm39) V287I probably benign Het
Nod2 T C 8: 89,379,694 (GRCm39) V72A probably damaging Het
Nudt19 T C 7: 35,254,650 (GRCm39) T194A probably benign Het
Or1j4 A T 2: 36,740,156 (GRCm39) T33S probably benign Het
Or8b53 C T 9: 38,667,689 (GRCm39) S235L possibly damaging Het
Pappa2 T A 1: 158,784,703 (GRCm39) R102S probably benign Het
Pik3c2a T C 7: 115,950,021 (GRCm39) N1332S probably benign Het
Plppr1 T A 4: 49,319,800 (GRCm39) V142E possibly damaging Het
Prdm6 C A 18: 53,598,110 (GRCm39) probably benign Het
Prm2 T A 16: 10,609,732 (GRCm39) probably benign Het
Prmt3 T C 7: 49,435,883 (GRCm39) S155P possibly damaging Het
Rars2 T C 4: 34,656,793 (GRCm39) Y481H probably benign Het
Rgs2 G A 1: 143,877,437 (GRCm39) T206M probably benign Het
Slc2a8 C T 2: 32,871,785 (GRCm39) R56H probably damaging Het
Spmip11 C A 15: 98,483,148 (GRCm39) probably null Het
Stk35 T A 2: 129,652,855 (GRCm39) M452K probably damaging Het
Tcf3 G A 10: 80,251,071 (GRCm39) H454Y probably damaging Het
Tgm3 C T 2: 129,890,202 (GRCm39) S655F possibly damaging Het
Tssc4 T G 7: 142,623,770 (GRCm39) L26R probably damaging Het
Utp11 A T 4: 124,572,695 (GRCm39) probably benign Het
Vmn1r237 C G 17: 21,534,688 (GRCm39) A137G possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vps8 T C 16: 21,378,103 (GRCm39) L1038P probably damaging Het
Wipf3 C T 6: 54,462,660 (GRCm39) A290V probably damaging Het
Zdhhc25 T G 15: 88,485,259 (GRCm39) L198R probably damaging Het
Zdhhc6 A T 19: 55,302,998 (GRCm39) M1K probably null Het
Other mutations in Eif3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Eif3c APN 7 126,158,180 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGTTCACCTAGTGTCTAACTCAC -3'
(R):5'- GCAGTCTGCAGATGAAGATGC -3'

Sequencing Primer
(F):5'- TCACTCTCTGAACCCAAGGG -3'
(R):5'- TGCAGAAAAGAATGAGGAAGACTCC -3'
Posted On 2016-06-21