Incidental Mutation 'IGL01863:Fam46c'
ID178431
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 #IGL01863
Quality Score
Status
Chromosome3
Chromosomal Location100451628-100489324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 100472664 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 259 (D259N)
Ref Sequence ENSEMBL: ENSMUSP00000056872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061455]
Predicted Effect probably benign
Transcript: ENSMUST00000061455
AA Change: D259N

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: D259N

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg1l T A 10: 42,339,911 I326F possibly damaging Het
Aimp1 T C 3: 132,672,092 T171A probably benign Het
Armc4 T C 18: 7,222,617 T551A probably damaging Het
Ash1l T A 3: 88,985,506 L1564* probably null Het
Atp1a1 G T 3: 101,591,889 Y131* probably null Het
Celsr2 T C 3: 108,394,022 E2686G probably benign Het
Cyp4f18 A G 8: 71,989,926 V395A possibly damaging Het
Ephb2 T C 4: 136,659,777 Q713R probably benign Het
Esf1 A T 2: 140,120,679 M824K probably benign Het
Fat4 T C 3: 38,970,619 probably benign Het
Gem A G 4: 11,705,980 I23V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Il6st A G 13: 112,504,210 E779G possibly damaging Het
Lama3 T A 18: 12,419,936 probably benign Het
Lipi A C 16: 75,550,226 I435R probably damaging Het
Lrrc6 A T 15: 66,396,974 probably benign Het
Olfr291 T C 7: 84,856,411 L14P probably damaging Het
Omg C T 11: 79,502,224 M269I probably benign Het
Optn A T 2: 5,021,487 probably benign Het
Pex1 A G 5: 3,606,066 T298A probably benign Het
Rab27b T A 18: 69,989,554 R111S probably damaging Het
Rhbdf1 T G 11: 32,213,484 E329D probably benign Het
Slc2a13 T C 15: 91,516,492 I176V probably benign Het
Slc30a1 T A 1: 191,909,084 C281S probably damaging Het
Slc4a7 T A 14: 14,762,430 C509S probably damaging Het
Slfn9 T C 11: 82,981,325 R862G probably benign Het
Tbc1d2 A G 4: 46,607,064 I782T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps33b T C 7: 80,274,311 probably null Het
Wrap73 A G 4: 154,145,333 I54V probably benign 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
IGL01817:Fam46c APN 3 100472855 missense probably damaging 1.00
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
Posted On2014-05-07