Incidental Mutation 'IGL03082:Fam185a'
ID 417894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam185a
Ensembl Gene ENSMUSG00000047221
Gene Name family with sequence similarity 185, member A
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03082
Quality Score
Status
Chromosome 5
Chromosomal Location 21629956-21687122 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 21660836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 284 (V284I)
Ref Sequence ENSEMBL: ENSMUSP00000058333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056045]
AlphaFold Q7TPD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000056045
AA Change: V284I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000058333
Gene: ENSMUSG00000047221
AA Change: V284I

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146056
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asic1 T A 15: 99,594,428 (GRCm39) N324K probably benign Het
Atpaf2 T C 11: 60,294,670 (GRCm39) E251G probably damaging Het
Cacna1d T C 14: 29,821,190 (GRCm39) K1109E probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chst1 C T 2: 92,444,278 (GRCm39) T250I possibly damaging Het
Cpne6 T C 14: 55,753,760 (GRCm39) L406P probably damaging Het
Cryz A G 3: 154,310,563 (GRCm39) M8V probably damaging Het
Dpysl2 T C 14: 67,045,459 (GRCm39) E438G probably damaging Het
Elovl1 T C 4: 118,288,077 (GRCm39) I71T probably benign Het
Eml2 T A 7: 18,935,802 (GRCm39) Y679N probably damaging Het
Fpgs C T 2: 32,575,769 (GRCm39) W391* probably null Het
Hdac11 C T 6: 91,150,085 (GRCm39) P295S probably damaging Het
Herc2 A T 7: 55,835,671 (GRCm39) I3260F probably benign Het
Hltf G A 3: 20,118,723 (GRCm39) probably benign Het
Immp2l T G 12: 41,160,900 (GRCm39) V66G possibly damaging Het
Lrrc4c T C 2: 97,460,931 (GRCm39) I519T probably benign Het
Megf8 A G 7: 25,029,661 (GRCm39) T402A probably benign Het
Mttp T G 3: 137,829,556 (GRCm39) I111L probably benign Het
Mycbp2 T A 14: 103,441,805 (GRCm39) I1987F probably benign Het
Ncr1 T A 7: 4,344,241 (GRCm39) probably benign Het
Nedd4 G A 9: 72,584,676 (GRCm39) probably null Het
Nherf4 A T 9: 44,162,083 (GRCm39) S39T possibly damaging Het
Nnt A G 13: 119,533,404 (GRCm39) F87S probably damaging Het
Nol6 A G 4: 41,115,878 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,635,857 (GRCm39) I491N probably damaging Het
Plcxd2 T C 16: 45,785,473 (GRCm39) I311V probably damaging Het
Pou2f3 C A 9: 43,058,212 (GRCm39) probably null Het
Rgsl1 G A 1: 153,675,693 (GRCm39) T836I possibly damaging Het
Rttn G A 18: 89,002,072 (GRCm39) G328D probably damaging Het
Serpina11 T C 12: 103,952,560 (GRCm39) E77G probably benign Het
Slc35f1 G A 10: 52,809,234 (GRCm39) V74I probably benign Het
Slc7a6 A G 8: 106,919,854 (GRCm39) probably null Het
Smco2 A G 6: 146,761,542 (GRCm39) T154A possibly damaging Het
Tcerg1 A G 18: 42,706,422 (GRCm39) Y1033C probably damaging Het
Tmem87a A G 2: 120,227,847 (GRCm39) F100S possibly damaging Het
Tssk4 T C 14: 55,888,518 (GRCm39) F129S probably damaging Het
Wdr43 C T 17: 71,945,336 (GRCm39) T315I probably damaging Het
Other mutations in Fam185a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00726:Fam185a APN 5 21,685,340 (GRCm39) missense probably damaging 1.00
IGL01980:Fam185a APN 5 21,664,171 (GRCm39) missense probably damaging 1.00
IGL02096:Fam185a APN 5 21,630,341 (GRCm39) missense probably damaging 1.00
IGL02264:Fam185a APN 5 21,685,392 (GRCm39) missense possibly damaging 0.63
IGL02553:Fam185a APN 5 21,634,839 (GRCm39) splice site probably benign
IGL02553:Fam185a APN 5 21,660,829 (GRCm39) missense probably damaging 1.00
famine UTSW 5 21,630,452 (GRCm39) missense probably benign 0.00
R0389:Fam185a UTSW 5 21,664,283 (GRCm39) missense probably damaging 0.99
R1872:Fam185a UTSW 5 21,685,328 (GRCm39) critical splice acceptor site probably null
R1883:Fam185a UTSW 5 21,630,242 (GRCm39) missense possibly damaging 0.85
R3775:Fam185a UTSW 5 21,660,804 (GRCm39) missense probably damaging 1.00
R4190:Fam185a UTSW 5 21,630,122 (GRCm39) unclassified probably benign
R4192:Fam185a UTSW 5 21,630,122 (GRCm39) unclassified probably benign
R4194:Fam185a UTSW 5 21,630,452 (GRCm39) missense probably benign 0.00
R4704:Fam185a UTSW 5 21,685,471 (GRCm39) utr 3 prime probably benign
R4724:Fam185a UTSW 5 21,660,785 (GRCm39) missense probably damaging 1.00
R4837:Fam185a UTSW 5 21,685,375 (GRCm39) missense probably benign 0.00
R6225:Fam185a UTSW 5 21,630,554 (GRCm39) missense probably damaging 0.99
R6438:Fam185a UTSW 5 21,663,970 (GRCm39) splice site probably null
R6475:Fam185a UTSW 5 21,630,281 (GRCm39) missense probably benign 0.01
R7512:Fam185a UTSW 5 21,652,356 (GRCm39) critical splice donor site probably null
R8400:Fam185a UTSW 5 21,643,814 (GRCm39) missense probably benign 0.14
R8690:Fam185a UTSW 5 21,638,766 (GRCm39) missense probably benign 0.32
R9157:Fam185a UTSW 5 21,660,837 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02