Incidental Mutation 'IGL01817:Fam46c'
ID154422
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam46c
Ensembl Gene ENSMUSG00000044468
Gene Namefamily with sequence similarity 46, member C
Synonyms4930431B09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01817
Quality Score
Status
Chromosome3
Chromosomal Location100451628-100489324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100472855 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 195 (Y195C)
Ref Sequence ENSEMBL: ENSMUSP00000056872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061455]
Predicted Effect probably damaging
Transcript: ENSMUST00000061455
AA Change: Y195C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: Y195C

DomainStartEndE-ValueType
DUF1693 17 336 3.33e-241 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139833
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypochromic microcytic anemia and decreased B cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Eif4g3 T C 4: 138,120,362 V198A probably benign Het
Exoc6b T C 6: 85,069,338 E23G probably damaging Het
Gm20390 G T 11: 93,955,621 probably benign Het
Gm4847 C A 1: 166,634,902 D340Y probably damaging Het
Gm5152 C A 5: 10,245,330 A48S probably damaging Het
Gtf3c5 T C 2: 28,569,289 probably null Het
Ighv1-13 G A 12: 114,630,980 probably benign Het
Ighv1-43 C A 12: 114,946,094 E69D probably benign Het
Ighv1-43 T C 12: 114,946,095 E69G probably benign Het
Itln1 C A 1: 171,529,160 L138F probably damaging Het
Nsun5 G T 5: 135,370,039 G19V probably damaging Het
Olfr1223 A G 2: 89,144,358 F222L probably benign Het
Olfr1251 A G 2: 89,667,004 I294T probably benign Het
Olfr632 A G 7: 103,937,823 I148V probably benign Het
Per1 T C 11: 69,104,199 L615P probably damaging Het
Pibf1 C A 14: 99,186,472 probably benign Het
Pik3r4 T A 9: 105,650,822 I458N probably damaging Het
Ppp1r14a T C 7: 29,293,197 V108A probably benign Het
Scamp2 T A 9: 57,581,620 C201* probably null Het
Stambpl1 G T 19: 34,233,993 L151F possibly damaging Het
Vmn1r64 G A 7: 5,884,223 T107I probably damaging Het
Other mutations in Fam46c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Fam46c APN 3 100473356 missense probably damaging 0.96
IGL01314:Fam46c APN 3 100473174 missense probably benign 0.18
IGL01409:Fam46c APN 3 100473169 missense probably damaging 1.00
IGL01863:Fam46c APN 3 100472664 missense probably benign 0.05
IGL01992:Fam46c APN 3 100472630 missense probably damaging 1.00
IGL02436:Fam46c APN 3 100472507 missense probably benign 0.43
R0111:Fam46c UTSW 3 100472786 missense probably damaging 1.00
R0529:Fam46c UTSW 3 100472370 missense probably benign 0.36
R1196:Fam46c UTSW 3 100473000 missense possibly damaging 0.73
R1242:Fam46c UTSW 3 100472876 missense probably damaging 1.00
R4671:Fam46c UTSW 3 100473199 missense probably benign 0.44
R5252:Fam46c UTSW 3 100472708 missense probably damaging 1.00
R6730:Fam46c UTSW 3 100472957 missense probably benign 0.07
R8205:Fam46c UTSW 3 100472822 missense probably benign 0.04
R8282:Fam46c UTSW 3 100473011 missense probably damaging 1.00
R8483:Fam46c UTSW 3 100472468 missense probably damaging 1.00
Posted On2014-02-04