Incidental Mutation 'IGL00435:Fam46c'
ID13466
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 #IGL00435
Quality Score
Status
Chromosome3
Chromosomal Location100451628-100489324 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100473356 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 28 (V28A)
Ref Sequence ENSEMBL: ENSMUSP00000056872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061455]
Predicted Effect probably damaging
Transcript: ENSMUST00000061455
AA Change: V28A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056872
Gene: ENSMUSG00000044468
AA Change: V28A

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,164,528 D2575V probably damaging Het
Arhgap28 A T 17: 67,845,801 D657E probably damaging Het
Cd68 T C 11: 69,665,850 T44A probably damaging Het
Cecr2 C T 6: 120,756,717 T555M probably damaging Het
Cep170b A G 12: 112,735,194 Q169R probably damaging Het
Cs T C 10: 128,360,043 F374L probably damaging Het
Dpy19l1 T C 9: 24,481,930 E181G probably damaging Het
Efcab12 T C 6: 115,823,664 T133A probably benign Het
Esr2 G A 12: 76,133,879 R423W probably damaging Het
Eya4 T C 10: 23,159,097 Y120C probably benign Het
Fbxw8 A G 5: 118,068,137 M582T probably benign Het
Ghsr A G 3: 27,372,383 E196G possibly damaging Het
Gm10024 G A 10: 77,711,461 probably benign Het
Gm609 A T 16: 45,444,120 L25Q probably damaging Het
Gpr65 A G 12: 98,275,556 E156G probably damaging Het
Gtf3c3 T C 1: 54,427,535 Y249C possibly damaging Het
H2-T23 G A 17: 36,031,781 A155V probably damaging Het
Hadha A G 5: 30,122,173 S556P probably benign Het
Hdac7 T A 15: 97,809,495 K187N probably damaging Het
Inpp5j T C 11: 3,502,255 I332V probably benign Het
Kank1 A G 19: 25,430,236 D1198G probably benign Het
Kdr A G 5: 75,968,750 L159P probably damaging Het
Me2 T C 18: 73,770,642 E585G probably benign Het
Nfu1 A T 6: 87,015,595 T64S probably damaging Het
Nsd3 A G 8: 25,676,712 D632G probably benign Het
Pcna T C 2: 132,251,932 D97G probably benign Het
Pgm1 A G 5: 64,108,269 probably benign Het
Phactr1 C A 13: 42,956,646 R2S probably damaging Het
Psmd11 T A 11: 80,470,384 I347N possibly damaging Het
Rad21l T C 2: 151,653,516 T416A probably benign Het
Ruvbl2 A T 7: 45,425,172 S181T probably benign Het
Rxrb A G 17: 34,034,075 T109A probably damaging Het
Ryr3 T A 2: 112,660,149 Y3785F probably damaging Het
Sec16a T C 2: 26,430,101 T1442A probably benign Het
Slc6a14 T A X: 21,734,124 probably benign Het
Slco2b1 G A 7: 99,660,052 Q691* probably null Het
Them5 A G 3: 94,346,189 T169A possibly damaging Het
Trav13-2 T C 14: 53,635,231 F55L possibly damaging Het
Tst A T 15: 78,405,461 S125T probably damaging Het
Ttn T C 2: 76,800,524 T14179A probably benign Het
Vps37b A G 5: 124,010,787 Y62H probably damaging Het
Other mutations in Fam46c
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2012-12-06