Incidental Mutation 'IGL02544:Eif3c'
ID297737
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eif3c
Ensembl Gene ENSMUSG00000030738
Gene Nameeukaryotic translation initiation factor 3, subunit C
SynonymsNIPIL(A3), 3230401O13Rik, 110kDa, Xs, Eif3s8, Xsl
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02544
Quality Score
Status
Chromosome7
Chromosomal Location126546455-126566411 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 126547612 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 799 (S799*)
Ref Sequence ENSEMBL: ENSMUSP00000032992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032992]
Predicted Effect probably null
Transcript: ENSMUST00000032992
AA Change: S799*
SMART Domains Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738
AA Change: S799*

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428F04Rik C T 8: 105,283,460 V286M probably benign Het
Aasdh A C 5: 76,902,114 S12A probably benign Het
Abcb5 A T 12: 118,906,268 probably benign Het
Acap3 G A 4: 155,892,410 E6K possibly damaging Het
Ano3 A T 2: 110,658,249 I946K possibly damaging Het
Arid1a A G 4: 133,681,748 V1816A unknown Het
Cacna1c C T 6: 118,751,479 G335R probably damaging Het
Ccnh C A 13: 85,202,341 Y118* probably null Het
Cep76 C T 18: 67,634,950 probably benign Het
Cyp2c65 T C 19: 39,090,638 V387A probably damaging Het
Dapk1 T G 13: 60,751,217 S834A probably benign Het
Ddx39 T C 8: 83,722,773 S367P probably benign Het
Dicer1 A G 12: 104,714,832 I474T probably damaging Het
Dnah10 G A 5: 124,799,005 R2579H probably benign Het
Dnajc16 T C 4: 141,764,647 N622D probably damaging Het
Fbxo9 A G 9: 78,087,259 Y259H probably damaging Het
Fpr-rs4 A T 17: 18,022,211 H160L probably benign Het
Galc A T 12: 98,231,442 V336D probably benign Het
Gm14548 T A 7: 3,897,186 Y139F probably damaging Het
Mfrp T C 9: 44,102,794 L153P probably damaging Het
Mtx1 C A 3: 89,210,396 W30L probably damaging Het
Mysm1 A T 4: 94,952,306 D624E probably damaging Het
Naa16 A G 14: 79,335,820 F837L probably damaging Het
Olfr1118 C T 2: 87,309,127 R113C possibly damaging Het
Olfr193 A T 16: 59,110,144 H155Q probably damaging Het
Olfr346 A G 2: 36,688,836 Y278C probably damaging Het
Olfr705 T C 7: 106,714,535 I49V probably benign Het
Pde4d G T 13: 109,740,523 D137Y probably damaging Het
Pik3r1 G T 13: 101,687,276 R534S probably damaging Het
Plekha5 A C 6: 140,589,728 E239A possibly damaging Het
Psap G T 10: 60,300,626 probably benign Het
Rap2b T C 3: 61,365,139 F28S probably damaging Het
Rfc5 A T 5: 117,386,866 probably benign Het
Ryr1 C T 7: 29,115,599 D175N probably benign Het
Sbno1 T G 5: 124,403,983 I370L probably damaging Het
Slc17a6 T A 7: 51,666,155 C390* probably null Het
Srsf7 A T 17: 80,204,191 probably benign Het
Tbc1d10c C T 19: 4,187,960 D272N probably benign Het
Tll2 A G 19: 41,135,965 F204L probably damaging Het
Tmc1 T A 19: 20,906,963 T38S probably benign Het
Tmem184b A T 15: 79,365,807 I256K probably damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Trip11 G A 12: 101,893,521 R365W probably damaging Het
Ubr4 C T 4: 139,415,118 P1339S probably damaging Het
Vmn2r83 T A 10: 79,481,459 probably benign Het
Other mutations in Eif3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Eif3c APN 7 126559008 missense probably benign
IGL01380:Eif3c APN 7 126564413 intron probably benign
IGL01434:Eif3c APN 7 126556410 missense probably damaging 0.99
IGL01534:Eif3c APN 7 126557695 missense probably benign 0.07
IGL02493:Eif3c APN 7 126558901 missense probably damaging 0.98
IGL02821:Eif3c APN 7 126558659 missense probably benign
IGL02963:Eif3c APN 7 126556820 missense probably benign 0.00
R0194:Eif3c UTSW 7 126558623 unclassified probably benign
R0421:Eif3c UTSW 7 126563712 missense possibly damaging 0.95
R1486:Eif3c UTSW 7 126564721 missense probably damaging 1.00
R2378:Eif3c UTSW 7 126552325 missense probably damaging 0.99
R4135:Eif3c UTSW 7 126566299 unclassified probably benign
R4223:Eif3c UTSW 7 126566299 unclassified probably benign
R4225:Eif3c UTSW 7 126566299 unclassified probably benign
R4898:Eif3c UTSW 7 126557454 missense probably benign 0.03
R5144:Eif3c UTSW 7 126563066 missense probably benign
R5246:Eif3c UTSW 7 126557238 missense possibly damaging 0.66
R5845:Eif3c UTSW 7 126564755 missense probably damaging 0.99
R6495:Eif3c UTSW 7 126547500 missense probably damaging 1.00
R6884:Eif3c UTSW 7 126556879 missense probably benign 0.01
R7236:Eif3c UTSW 7 126552323 missense possibly damaging 0.63
R7691:Eif3c UTSW 7 126551990 missense possibly damaging 0.95
R7744:Eif3c UTSW 7 126558894 missense probably damaging 1.00
X0065:Eif3c UTSW 7 126552085 missense probably damaging 1.00
Posted On2015-04-16