Incidental Mutation 'IGL01135:Fam46a'
ID51984
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam46a
Ensembl Gene ENSMUSG00000032265
Gene Namefamily with sequence similarity 46, member A
SynonymsD930050G01Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.498) question?
Stock #IGL01135
Quality Score
Status
Chromosome9
Chromosomal Location85320439-85327348 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85326599 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 57 (V57A)
Ref Sequence ENSEMBL: ENSMUSP00000140869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034802] [ENSMUST00000187711]
Predicted Effect probably damaging
Transcript: ENSMUST00000034802
AA Change: V76A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: V76A

DomainStartEndE-ValueType
low complexity region 43 55 N/A INTRINSIC
DUF1693 71 389 8.01e-244 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000187711
AA Change: V57A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: V57A

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
DUF1693 52 370 3.9e-248 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for an ENU-induced allele show partial lethality, high alkaline phosphatase (ALP) activity, short stature, and limb, long bone, rib, pelvis and skull anomalies, with absent trabeculae and reduced cortical thickness in long bones. Heterozygotes show high ALP activity but no other defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
5730507C01Rik G A 12: 18,533,374 R145H possibly damaging Het
Acox3 T A 5: 35,588,752 V93E probably benign Het
Ankar T C 1: 72,665,219 N848S probably benign Het
Blzf1 A G 1: 164,303,930 probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Ckmt1 A C 2: 121,361,150 D267A probably damaging Het
Dtl G T 1: 191,548,330 T364K probably damaging Het
Fat1 T A 8: 45,024,840 F2308I probably damaging Het
Fbxo41 A T 6: 85,477,908 S673T probably benign Het
Flnb G A 14: 7,909,736 V1397I probably benign Het
Gdi2 A G 13: 3,548,855 probably benign Het
Gm5155 A T 7: 17,902,471 noncoding transcript Het
Grik3 C T 4: 125,632,415 T147I probably benign Het
Htr1a T C 13: 105,445,284 V344A possibly damaging Het
Isg20l2 A T 3: 87,931,761 D93V probably damaging Het
Kcnt2 T C 1: 140,354,555 probably null Het
Mfsd4b3 A G 10: 39,948,072 M64T probably benign Het
Nox3 T A 17: 3,696,252 probably benign Het
Olfr693 C T 7: 106,678,193 A98T probably benign Het
Pikfyve T A 1: 65,251,635 N1204K probably damaging Het
Pou4f3 C T 18: 42,395,966 Q325* probably null Het
Rap1a T A 3: 105,732,035 T103S probably benign Het
Rfc4 G A 16: 23,115,776 R165C probably damaging Het
Smtnl1 A G 2: 84,818,887 S8P probably benign Het
Syt17 C T 7: 118,382,047 G351S possibly damaging Het
Tcf20 T A 15: 82,853,900 M1117L probably benign Het
Tgfbr3 A T 5: 107,215,028 H39Q probably damaging Het
Trdmt1 T C 2: 13,521,260 probably null Het
Twf2 A G 9: 106,212,828 I127V probably benign Het
Unc13c A G 9: 73,484,893 V2059A probably damaging Het
Other mutations in Fam46a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Fam46a APN 9 85324753 missense possibly damaging 0.94
IGL01724:Fam46a APN 9 85325050 missense probably damaging 0.99
IGL02798:Fam46a APN 9 85324884 missense probably damaging 1.00
R0482:Fam46a UTSW 9 85325055 missense probably damaging 1.00
R2697:Fam46a UTSW 9 85324740 missense possibly damaging 0.48
R4458:Fam46a UTSW 9 85326474 missense possibly damaging 0.75
R4494:Fam46a UTSW 9 85325047 missense probably damaging 0.99
R5245:Fam46a UTSW 9 85326348 missense possibly damaging 0.46
R6539:Fam46a UTSW 9 85326561 missense possibly damaging 0.75
R6622:Fam46a UTSW 9 85326456 missense probably damaging 0.99
R7253:Fam46a UTSW 9 85326717 missense probably benign 0.01
R7317:Fam46a UTSW 9 85324617 missense possibly damaging 0.81
Posted On2013-06-21