Incidental Mutation 'IGL00857:Fam46a'
ID10658
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: 0.480) question?
Stock #IGL00857
Quality Score
Status
Chromosome9
Chromosomal Location85320439-85327348 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 85324753 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 331 (V331L)
Ref Sequence ENSEMBL: ENSMUSP00000140869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034802] [ENSMUST00000187711]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034802
AA Change: V350L

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034802
Gene: ENSMUSG00000032265
AA Change: V350L

DomainStartEndE-ValueType
low complexity region 43 55 N/A INTRINSIC
DUF1693 71 389 8.01e-244 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000187711
AA Change: V331L

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140869
Gene: ENSMUSG00000032265
AA Change: V331L

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
8030411F24Rik A G 2: 148,782,250 D48G possibly damaging Het
Acr A G 15: 89,570,002 T181A probably benign Het
Anks3 T A 16: 4,953,929 H77L possibly damaging Het
Cacna1d A T 14: 30,350,681 N112K possibly damaging Het
Cd164 A G 10: 41,528,695 T150A probably benign Het
Cfap57 C T 4: 118,612,923 probably null Het
Cntnap2 C A 6: 47,049,424 N61K probably benign Het
Cyp4f39 A G 17: 32,489,657 I393V probably benign Het
Dcaf11 A T 14: 55,561,285 probably benign Het
Defb7 G A 8: 19,497,578 R33Q possibly damaging Het
Dmxl2 T C 9: 54,376,320 Y2743C probably benign Het
Enpp2 A G 15: 54,875,650 probably null Het
Fam135b T A 15: 71,463,616 E576D probably benign Het
Gfpt1 T A 6: 87,056,163 N123K probably damaging Het
Hnmt T C 2: 24,003,783 D233G probably benign Het
Hsd3b2 T A 3: 98,711,543 E362V possibly damaging Het
Hsdl2 T A 4: 59,617,735 N487K probably benign Het
Hspa14 T C 2: 3,502,759 Y83C probably damaging Het
Itm2b T C 14: 73,364,616 N214S probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Myocd A T 11: 65,178,836 V726D possibly damaging Het
Ncapg T A 5: 45,676,585 probably null Het
Nrd1 A T 4: 109,054,002 I774F probably damaging Het
Pot1a T C 6: 25,744,628 I626V probably benign Het
Prkab2 C T 3: 97,662,343 A75V possibly damaging Het
Sdr9c7 A G 10: 127,898,859 Q72R probably benign Het
Slc16a7 A C 10: 125,230,934 Y279D probably benign Het
Slc8a1 T A 17: 81,647,879 T577S probably benign Het
Slitrk3 G A 3: 73,049,841 L533F probably damaging Het
Tmeff1 T C 4: 48,610,435 V102A probably damaging Het
Ttn G A 2: 76,752,755 T22598I probably damaging Het
Ube4a C A 9: 44,932,386 G977W probably damaging Het
Other mutations in Fam46a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Fam46a APN 9 85326599 missense probably damaging 0.97
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 On2012-12-06