Incidental Mutation 'IGL02963:Eif3c'
ID 365443
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 # IGL02963
Quality Score
Status
Chromosome 7
Chromosomal Location 126146083-126165538 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126155992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 493 (T493A)
Ref Sequence ENSEMBL: ENSMUSP00000032992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032992]
AlphaFold Q8R1B4
Predicted Effect probably benign
Transcript: ENSMUST00000032992
AA Change: T493A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: T493A

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
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
Abca3 T A 17: 24,603,503 (GRCm39) L565Q probably damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
Arhgap44 A T 11: 64,922,489 (GRCm39) I348N probably damaging Het
Bahcc1 T C 11: 120,165,758 (GRCm39) S1005P possibly damaging Het
Ccn1 A G 3: 145,353,630 (GRCm39) Y311H probably damaging Het
Cdh20 T A 1: 104,861,823 (GRCm39) M1K probably null Het
Cfhr4 G A 1: 139,659,334 (GRCm39) Q732* probably null Het
Cpsf3 T C 12: 21,352,423 (GRCm39) S387P probably damaging Het
Cyp2j6 T C 4: 96,406,421 (GRCm39) E450G probably damaging Het
Dusp13b T C 14: 21,783,875 (GRCm39) T147A possibly damaging Het
Ell2 T C 13: 75,917,762 (GRCm39) V564A possibly damaging Het
Gtf2ird1 T G 5: 134,418,541 (GRCm39) E478D probably benign Het
Gys2 A T 6: 142,395,154 (GRCm39) probably null Het
H2-T3 T C 17: 36,500,526 (GRCm39) T104A probably damaging Het
Herc1 T C 9: 66,296,105 (GRCm39) S567P probably damaging Het
Kcnq3 A T 15: 66,157,675 (GRCm39) probably benign Het
Kdm7a T C 6: 39,120,164 (GRCm39) H935R probably damaging Het
Lcat A T 8: 106,666,588 (GRCm39) F311L probably damaging Het
Manf A G 9: 106,768,338 (GRCm39) S49P possibly damaging Het
Med25 T C 7: 44,541,680 (GRCm39) K37E probably damaging Het
Ms4a4b T A 19: 11,432,062 (GRCm39) I61K probably damaging Het
Muc5b T C 7: 141,418,001 (GRCm39) I3649T probably damaging Het
Myo18a T G 11: 77,732,844 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,898,466 (GRCm39) C429R probably damaging Het
Or14j2 A G 17: 37,885,745 (GRCm39) S190P probably benign Het
Pigk G T 3: 152,472,098 (GRCm39) E337* probably null Het
Pigz A T 16: 31,763,353 (GRCm39) Y137F probably damaging Het
Ppp1r12b A G 1: 134,814,286 (GRCm39) L339P probably damaging Het
Rasa2 C A 9: 96,452,838 (GRCm39) L349F probably damaging Het
Reep4 A G 14: 70,785,410 (GRCm39) S186G possibly damaging Het
Rfx7 A G 9: 72,524,898 (GRCm39) K696R probably benign Het
Rnf220 A G 4: 117,347,389 (GRCm39) F8L probably damaging Het
Rprm T C 2: 53,975,226 (GRCm39) T31A probably benign Het
Sez6 T A 11: 77,853,775 (GRCm39) L148Q possibly damaging Het
Sh2d6 C T 6: 72,494,584 (GRCm39) V96I probably benign Het
Slc16a9 G T 10: 70,102,966 (GRCm39) V81F probably damaging Het
Slc9a9 T A 9: 94,902,767 (GRCm39) probably null Het
Sppl3 T A 5: 115,199,662 (GRCm39) L22Q probably damaging Het
Ssc5d T C 7: 4,947,326 (GRCm39) S1227P probably benign Het
Tbc1d1 T A 5: 64,421,709 (GRCm39) V238E probably damaging Het
Tmco6 G A 18: 36,871,798 (GRCm39) probably null Het
Tyr A G 7: 87,133,205 (GRCm39) V287A probably benign Het
Uvrag A T 7: 98,555,697 (GRCm39) probably null Het
Vmn1r167 A G 7: 23,204,975 (GRCm39) S14P possibly damaging Het
Vmn1r171 A G 7: 23,332,113 (GRCm39) T113A possibly damaging Het
Wnk4 A G 11: 101,167,039 (GRCm39) probably benign Het
Zan T C 5: 137,454,512 (GRCm39) T1431A unknown 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
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 2015-12-18