Incidental Mutation 'IGL02436:Fam46c'
ID293275
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 #IGL02436
Quality Score
Status
Chromosome3
Chromosomal Location100451628-100489324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 100472507 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 311 (R311L)
Ref Sequence ENSEMBL: ENSMUSP00000056872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061455]
Predicted Effect probably benign
Transcript: ENSMUST00000061455
AA Change: R311L

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: R311L

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC005561 T A 5: 104,521,155 I1181K probably benign Het
Carm1 A T 9: 21,579,462 R209W probably damaging Het
Clec4a2 A G 6: 123,140,678 D185G possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dyrk3 A G 1: 131,128,865 S524P probably benign Het
Gm17175 A T 14: 51,569,651 probably benign Het
Hdx A T X: 111,600,748 D512E probably damaging Het
Hs6st2 T G X: 51,680,014 T275P possibly damaging Het
Hus1 T C 11: 9,006,057 I159V possibly damaging Het
Lrrc37a T C 11: 103,498,177 T2141A unknown Het
Ncoa7 A T 10: 30,694,147 I272N probably damaging Het
Olfr286 G T 15: 98,227,290 C118* probably null Het
P3h2 T C 16: 25,997,200 K188E probably benign Het
Pcsk5 A G 19: 17,564,708 probably null Het
Pramef12 G T 4: 144,392,969 P343T possibly damaging Het
Scn1a G A 2: 66,351,153 P9S probably benign Het
Slc7a9 C A 7: 35,457,053 L307I probably benign Het
Srebf2 G A 15: 82,197,727 G87S probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tex30 T C 1: 44,088,505 probably null Het
Tnrc6a C T 7: 123,184,215 R970* probably null Het
Vgll2 A T 10: 52,025,222 R83* probably null 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
IGL01863:Fam46c APN 3 100472664 missense probably benign 0.05
IGL01992:Fam46c APN 3 100472630 missense probably damaging 1.00
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 On2015-04-16