Incidental Mutation 'IGL01380:Eif3c'
ID78839
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 #IGL01380
Quality Score
Status
Chromosome7
Chromosomal Location126546455-126566411 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 126564413 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032992] [ENSMUST00000180459] [ENSMUST00000205949]
Predicted Effect probably benign
Transcript: ENSMUST00000032992
SMART Domains Protein: ENSMUSP00000032992
Gene: ENSMUSG00000030738

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 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,324,022 V352L possibly damaging Het
Ankrd44 A T 1: 54,727,565 M488K probably benign Het
Ano8 A G 8: 71,480,809 probably benign Het
Atp2a1 T A 7: 126,448,770 M623L possibly damaging Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Btla A C 16: 45,250,353 D225A probably benign Het
C030048H21Rik G A 2: 26,256,647 Q1218* probably null Het
C130079G13Rik A G 3: 59,932,632 T42A probably benign Het
Cacna1a A G 8: 84,559,117 Y750C probably damaging Het
Ccdc15 A T 9: 37,276,557 probably benign Het
Ccdc18 T A 5: 108,180,887 I724N probably damaging Het
Cluh T A 11: 74,665,946 F937L probably benign Het
Clybl G T 14: 122,379,349 A259S probably benign Het
Cyp4f39 T G 17: 32,481,858 I167S probably damaging Het
Dchs1 T A 7: 105,762,211 D1566V probably damaging Het
Dnah3 C T 7: 119,926,564 A3867T probably damaging Het
Dtwd1 T A 2: 126,159,927 L189Q probably benign Het
Dusp10 T C 1: 184,069,014 I326T possibly damaging Het
Eaf1 T A 14: 31,497,810 probably benign Het
Fam169a C T 13: 97,091,951 T44M probably damaging Het
Fam184a T C 10: 53,694,686 probably benign Het
Fam25c C T 14: 34,353,698 A46T probably null Het
Gckr A G 5: 31,299,633 probably benign Het
Gfra2 G T 14: 70,967,146 probably benign Het
Gm8237 A T 14: 5,863,703 probably null Het
H2-Eb2 G T 17: 34,335,809 L228F probably benign Het
Igf2r T C 17: 12,695,374 N1736S probably benign Het
Izumo1 T G 7: 45,627,095 S361A probably benign Het
Klri1 T C 6: 129,698,798 I170V probably benign Het
L3mbtl2 C T 15: 81,671,125 A193V possibly damaging Het
Lats1 T A 10: 7,691,780 M105K possibly damaging Het
Lrpprc T C 17: 84,722,730 D1080G probably benign Het
Lrrc74a A T 12: 86,761,722 M425L possibly damaging Het
Mfsd13a G T 19: 46,367,908 D151Y probably damaging Het
Mst1 G A 9: 108,084,588 E640K probably damaging Het
Napsa T C 7: 44,586,674 V379A probably damaging Het
Olfr1 A T 11: 73,395,191 M277K probably damaging Het
Olfr371 A T 8: 85,231,329 Y278F possibly damaging Het
Olfr371 C A 8: 85,231,146 S217Y probably damaging Het
Olfr544 C T 7: 102,484,385 C245Y probably damaging Het
Otop3 T C 11: 115,346,411 V567A probably damaging Het
Oxsr1 A T 9: 119,260,101 probably benign Het
Pak2 A T 16: 32,041,544 V167E probably benign Het
Pcdhb16 A G 18: 37,479,445 H486R probably benign Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rbm6 T C 9: 107,788,349 D616G probably damaging Het
Sf3b1 T C 1: 54,987,949 Y1249C probably damaging Het
Sipa1l3 T C 7: 29,331,372 H534R possibly damaging Het
Slco1c1 T C 6: 141,540,051 Y136H probably damaging Het
Smarca4 A G 9: 21,679,073 M1333V probably benign Het
Smc4 A G 3: 69,025,828 D54G probably damaging Het
Spag5 T A 11: 78,304,617 V250E possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Suv39h2 T A 2: 3,464,259 probably benign Het
Taar8b T A 10: 24,092,107 H63L probably damaging Het
Tex2 G A 11: 106,544,315 Q264* probably null Het
Thnsl2 A C 6: 71,138,756 S156A probably benign Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Usp25 T C 16: 77,093,678 L758P probably benign Het
Zfyve1 G A 12: 83,552,507 R144C probably damaging Het
Zpld1 A G 16: 55,251,770 V42A probably damaging Het
Other mutations in Eif3c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00970:Eif3c APN 7 126559008 missense 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
IGL02544:Eif3c APN 7 126547612 nonsense probably null
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 On2013-11-05