Incidental Mutation 'IGL01871:Fam46b'
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ID178709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam46b
Ensembl Gene ENSMUSG00000046694
Gene Namefamily with sequence similarity 46, member B
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL01871
Quality Score
Status
Chromosome4
Chromosomal Location133480132-133487938 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 133486309 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 164 (I164V)
Ref Sequence ENSEMBL: ENSMUSP00000056015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051676] [ENSMUST00000125541]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051676
AA Change: I164V

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056015
Gene: ENSMUSG00000046694
AA Change: I164V

DomainStartEndE-ValueType
low complexity region 15 44 N/A INTRINSIC
DUF1693 52 372 2.52e-218 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123169
Predicted Effect probably benign
Transcript: ENSMUST00000125541
SMART Domains Protein: ENSMUSP00000129613
Gene: ENSMUSG00000056596

DomainStartEndE-ValueType
low complexity region 20 54 N/A INTRINSIC
low complexity region 72 124 N/A INTRINSIC
low complexity region 131 144 N/A INTRINSIC
low complexity region 164 189 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132840
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,472,394 probably null Het
Aqp7 G A 4: 41,045,321 R20* probably null Het
Asxl2 G T 12: 3,502,112 V1285L probably benign Het
Bdp1 A T 13: 100,066,053 S688T probably benign Het
Cc2d2a A T 5: 43,688,969 I357F probably damaging Het
Clasp1 A T 1: 118,570,889 I884F probably damaging Het
Cpne4 T G 9: 104,925,757 M200R possibly damaging Het
Cyp2d10 T A 15: 82,403,885 D180V probably damaging Het
Dicer1 A T 12: 104,704,180 V1042D probably damaging Het
Dlc1 G A 8: 36,850,180 T447I probably damaging Het
Efl1 T C 7: 82,763,319 M972T possibly damaging Het
Erbin A G 13: 103,834,766 S781P probably damaging Het
Galnt4 G A 10: 99,109,241 G276D probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gmppa A G 1: 75,437,017 I41V probably damaging Het
Golga1 C T 2: 39,050,198 probably benign Het
H2-Ob G T 17: 34,242,545 W86L probably damaging Het
Hnrnpr G A 4: 136,339,574 R482H unknown Het
L2hgdh T C 12: 69,722,095 E81G probably damaging Het
Mre11a T C 9: 14,811,897 V389A possibly damaging Het
Mxra8 A G 4: 155,842,801 T372A probably benign Het
Ncapg T A 5: 45,688,581 S593R probably benign Het
Ndufaf1 C T 2: 119,658,287 W250* probably null Het
Neb T C 2: 52,153,069 E6783G probably damaging Het
Nmt2 T C 2: 3,312,674 Y175H probably damaging Het
Olfml2b T C 1: 170,662,355 probably benign Het
Pitpnm3 T A 11: 72,056,138 M812L probably damaging Het
Pou2f3 A G 9: 43,134,473 probably benign Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Rapgef4 A G 2: 72,198,360 T392A possibly damaging Het
Rhov G T 2: 119,270,738 Q71K probably benign Het
Slc22a15 T C 3: 101,860,794 probably benign Het
Spaca1 T A 4: 34,040,894 N22Y probably damaging Het
Stmnd1 A G 13: 46,289,713 E107G probably damaging Het
Timm22 T C 11: 76,407,437 V78A probably damaging Het
Usp47 T C 7: 112,077,786 probably benign Het
Utp4 A C 8: 106,912,317 K419T probably benign Het
Zfp410 T C 12: 84,325,791 probably null Het
Other mutations in Fam46b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Fam46b APN 4 133486522 splice site probably null
IGL02218:Fam46b APN 4 133486151 missense probably damaging 1.00
IGL02222:Fam46b APN 4 133486553 missense probably damaging 0.99
R0345:Fam46b UTSW 4 133486211 missense probably benign 0.01
R0515:Fam46b UTSW 4 133486139 missense possibly damaging 0.92
R0843:Fam46b UTSW 4 133486531 missense probably damaging 1.00
R1240:Fam46b UTSW 4 133486504 missense probably benign 0.01
R2042:Fam46b UTSW 4 133486613 missense possibly damaging 0.82
R4328:Fam46b UTSW 4 133486603 nonsense probably null
R4811:Fam46b UTSW 4 133486370 missense probably benign 0.01
R4868:Fam46b UTSW 4 133486082 critical splice acceptor site probably null
R5056:Fam46b UTSW 4 133480438 missense possibly damaging 0.91
R6360:Fam46b UTSW 4 133486756 missense probably damaging 0.99
R6454:Fam46b UTSW 4 133480409 missense probably damaging 1.00
R7017:Fam46b UTSW 4 133486234 missense possibly damaging 0.95
R7186:Fam46b UTSW 4 133486207 missense probably damaging 1.00
R7315:Fam46b UTSW 4 133487084 missense probably damaging 1.00
R8410:Fam46b UTSW 4 133487051 missense possibly damaging 0.95
Z1176:Fam46b UTSW 4 133486682 missense probably damaging 1.00
Posted On2014-05-07