Incidental Mutation 'IGL02891:Fam81a'
ID363195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam81a
Ensembl Gene ENSMUSG00000032224
Gene Namefamily with sequence similarity 81, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL02891
Quality Score
Status
Chromosome9
Chromosomal Location70088511-70142560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70110276 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 129 (L129P)
Ref Sequence ENSEMBL: ENSMUSP00000034749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034749]
Predicted Effect probably damaging
Transcript: ENSMUST00000034749
AA Change: L129P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034749
Gene: ENSMUSG00000032224
AA Change: L129P

DomainStartEndE-ValueType
coiled coil region 75 106 N/A INTRINSIC
coiled coil region 158 187 N/A INTRINSIC
low complexity region 349 358 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik C T 3: 108,464,392 R672Q probably benign Het
Abca17 A G 17: 24,281,366 S1284P probably damaging Het
Adgrf1 T C 17: 43,311,161 V763A probably damaging Het
Adhfe1 T A 1: 9,558,171 M256K probably benign Het
Chit1 A G 1: 134,145,310 S125G probably benign Het
Clu T A 14: 65,975,984 F273Y probably damaging Het
Dgki T C 6: 36,913,741 D869G probably benign Het
Emx1 T C 6: 85,204,085 probably benign Het
Ercc2 T G 7: 19,393,286 F316C probably damaging Het
Fat4 T A 3: 38,951,273 N1940K probably damaging Het
Fbxl13 G A 5: 21,522,100 probably benign Het
Kcnt2 T A 1: 140,574,806 D879E probably damaging Het
Kti12 T G 4: 108,848,533 S215A probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Ntn5 G T 7: 45,686,224 L26F probably damaging Het
Nwd2 A G 5: 63,725,227 N74S possibly damaging Het
Olfr109 T A 17: 37,466,944 V246E probably damaging Het
Olfr709-ps1 A G 7: 106,927,081 V126A probably damaging Het
Phactr4 T C 4: 132,387,023 D20G probably damaging Het
Ptpn23 G A 9: 110,388,020 Q923* probably null Het
Rfx6 T A 10: 51,723,846 S333T possibly damaging Het
Skint10 T A 4: 112,728,826 I198F probably benign Het
Spata5 T A 3: 37,426,192 V130D probably damaging Het
Taf3 G A 2: 9,921,227 P647L probably damaging Het
Tbcb T C 7: 30,233,434 probably benign Het
Tmem63c T C 12: 87,071,268 F216L probably benign Het
Ttc30b C T 2: 75,937,060 V450M possibly damaging Het
Uba5 A G 9: 104,054,193 probably benign Het
Usp34 C A 11: 23,487,166 Q217K probably benign Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r99 G A 17: 19,378,690 W212* probably null Het
Zfp687 G T 3: 95,011,946 P172T probably damaging Het
Other mutations in Fam81a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01636:Fam81a APN 9 70099152 nonsense probably null
IGL02010:Fam81a APN 9 70099137 missense probably benign 0.04
R0100:Fam81a UTSW 9 70102809 splice site probably benign
R0497:Fam81a UTSW 9 70096119 missense possibly damaging 0.47
R0621:Fam81a UTSW 9 70093647 missense probably benign 0.35
R1075:Fam81a UTSW 9 70110274 nonsense probably null
R1524:Fam81a UTSW 9 70125108 missense probably damaging 1.00
R4970:Fam81a UTSW 9 70093590 nonsense probably null
R5138:Fam81a UTSW 9 70099175 missense probably benign 0.01
R5209:Fam81a UTSW 9 70125160 missense probably benign 0.06
R6139:Fam81a UTSW 9 70102818 critical splice donor site probably null
R6378:Fam81a UTSW 9 70110346 missense probably damaging 1.00
R7145:Fam81a UTSW 9 70110278 missense probably damaging 1.00
R8030:Fam81a UTSW 9 70102909 missense probably benign 0.11
R8350:Fam81a UTSW 9 70125018 missense probably damaging 1.00
R8450:Fam81a UTSW 9 70125018 missense probably damaging 1.00
Posted On2015-12-18