Incidental Mutation 'R9394:Eif3c'
ID 710741
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126146083-126165538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126156550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 432 (F432L)
Ref Sequence ENSEMBL: ENSMUSP00000032992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032992]
AlphaFold Q8R1B4
Predicted Effect probably benign
Transcript: ENSMUST00000032992
AA Change: F432L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: F432L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,135,225 (GRCm39) D78G Het
Adgrv1 A G 13: 81,624,767 (GRCm39) V3734A possibly damaging Het
Alpk1 T A 3: 127,466,187 (GRCm39) E1106D probably damaging Het
Apc2 A G 10: 80,145,006 (GRCm39) Y639C probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Arfgef2 G A 2: 166,676,469 (GRCm39) V119I probably benign Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Cfap52 A G 11: 67,815,921 (GRCm39) *621R probably null Het
Dis3l T C 9: 64,225,017 (GRCm39) I427V probably benign Het
Dscaml1 G A 9: 45,661,354 (GRCm39) V1751I possibly damaging Het
Iars1 A G 13: 49,883,536 (GRCm39) N1110S probably benign Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Igfbpl1 A T 4: 45,826,792 (GRCm39) M1K probably null Het
Igkv3-1 T A 6: 70,680,953 (GRCm39) Y51N probably benign Het
Kcnq2 A T 2: 180,724,217 (GRCm39) I600K probably benign Het
Madd G A 2: 91,000,199 (GRCm39) T569M probably benign Het
Mapk7 A T 11: 61,381,858 (GRCm39) H351Q probably damaging Het
Met A C 6: 17,513,395 (GRCm39) Y415S probably damaging Het
Mmd2 A T 5: 142,555,239 (GRCm39) V151D probably damaging Het
Nacad T C 11: 6,549,390 (GRCm39) D1267G probably damaging Het
Or10g1 A G 14: 52,647,570 (GRCm39) V253A probably damaging Het
Or2l13 A C 16: 19,306,421 (GRCm39) T278P possibly damaging Het
Or2m13 A G 16: 19,226,019 (GRCm39) V249A probably benign Het
Or5w12 T C 2: 87,502,094 (GRCm39) I206V probably benign Het
Osbpl8 C T 10: 111,127,375 (GRCm39) R820* probably null Het
Oxsr1 C A 9: 119,151,134 (GRCm39) E3* probably null Het
Plekhg3 A G 12: 76,623,862 (GRCm39) D1035G probably damaging Het
Prune2 C T 19: 16,981,053 (GRCm39) T70I probably damaging Het
Ranbp2 T C 10: 58,291,698 (GRCm39) L235S probably damaging Het
Rasal1 A C 5: 120,816,746 (GRCm39) S761R probably benign Het
Rigi T C 4: 40,213,831 (GRCm39) N609S probably damaging Het
Rims1 T C 1: 22,511,856 (GRCm39) S566G probably damaging Het
Rnf123 T C 9: 107,942,905 (GRCm39) H611R probably damaging Het
Rpl35rt T C 1: 156,193,793 (GRCm39) V49A probably benign Het
Scn5a T A 9: 119,324,682 (GRCm39) N1382I probably damaging Het
Sgcb T C 5: 73,801,653 (GRCm39) I71V probably benign Het
Slc6a20a C A 9: 123,507,805 (GRCm39) V23L probably damaging Het
Slc7a1 A G 5: 148,270,712 (GRCm39) W585R probably damaging Het
Stk26 C T X: 49,930,618 (GRCm39) probably benign Het
Tom1l2 T C 11: 60,132,715 (GRCm39) T403A probably benign Het
Trpm1 G T 7: 63,918,480 (GRCm39) A1491S probably benign Het
Ttn A C 2: 76,707,058 (GRCm39) D9044E unknown Het
Ube3a A T 7: 58,921,960 (GRCm39) K111* probably null Het
Wee2 A G 6: 40,433,878 (GRCm39) H264R probably damaging Het
Zdhhc23 T A 16: 43,791,826 (GRCm39) I316F probably damaging Het
Zfc3h1 A G 10: 115,254,600 (GRCm39) E1398G probably damaging Het
Zfp612 C A 8: 110,810,993 (GRCm39) P57T probably damaging 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
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
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'- ACCTTGGGAGTGAGGATCAG -3'
(R):5'- CAGCCTTGTGTATTGAAGGTCC -3'

Sequencing Primer
(F):5'- CCTTGGGAGTGAGGATCAGTATTTTG -3'
(R):5'- GAAAGGGTTCTTTAGAAACGTCACTG -3'
Posted On 2022-04-18