Incidental Mutation 'IGL01590:Fam83a'
ID91567
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam83a
Ensembl Gene ENSMUSG00000051225
Gene Namefamily with sequence similarity 83, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01590
Quality Score
Status
Chromosome15
Chromosomal Location57985419-58011009 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 58009777 bp
ZygosityHeterozygous
Amino Acid Change Serine to Tyrosine at position 334 (S334Y)
Ref Sequence ENSEMBL: ENSMUSP00000125464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160942]
Predicted Effect probably damaging
Transcript: ENSMUST00000160942
AA Change: S334Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125464
Gene: ENSMUSG00000051225
AA Change: S334Y

DomainStartEndE-ValueType
Pfam:DUF1669 19 295 3.6e-102 PFAM
low complexity region 350 361 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161231
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,477,779 probably benign Het
Adgrb2 T G 4: 130,013,813 probably benign Het
Apcs C T 1: 172,894,467 G104D probably damaging Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Cep250 A T 2: 155,992,317 Q2054L possibly damaging Het
Dennd6a T G 14: 26,619,352 V207G probably benign Het
Ehbp1 C A 11: 22,095,611 D688Y possibly damaging Het
Fam83e T A 7: 45,723,936 F242Y probably null Het
Fnip1 A T 11: 54,493,300 D341V probably damaging Het
Gm17359 A C 3: 79,449,340 N150T probably damaging Het
Gm5286 G A 3: 94,198,367 probably benign Het
Gpatch3 A G 4: 133,580,717 probably benign Het
Gpc2 C A 5: 138,274,378 V558F probably damaging Het
H2-M10.6 A G 17: 36,812,749 N112D probably benign Het
Hs6st1 A T 1: 36,103,704 D240V probably damaging Het
Inpp5f T A 7: 128,664,307 probably null Het
Itga8 G T 2: 12,160,333 H822N probably damaging Het
Kif20b T A 19: 34,954,726 N1263K possibly damaging Het
Krt28 A G 11: 99,374,394 probably null Het
Muc5ac A T 7: 141,798,893 M706L probably benign Het
Olfr340 A T 2: 36,452,992 M136L probably benign Het
Olfr651 A C 7: 104,553,575 I219L probably benign Het
Prox2 A G 12: 85,088,071 W479R probably damaging Het
Rps19 A T 7: 24,888,456 D152V probably damaging Het
Slc20a1 G A 2: 129,209,226 probably benign Het
Slc7a2 C T 8: 40,914,100 P564S probably damaging Het
Slco1a5 C A 6: 142,250,319 M319I probably benign Het
Tanc1 A G 2: 59,785,473 T275A probably benign Het
Tenm3 A G 8: 48,228,802 S2598P probably damaging Het
Tiparp G A 3: 65,531,976 E56K probably benign Het
Trpm5 G A 7: 143,082,734 R489C probably damaging Het
Vmn2r84 C A 10: 130,386,095 G752V probably damaging Het
Wnt5b T A 6: 119,440,554 T130S possibly damaging Het
Other mutations in Fam83a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Fam83a APN 15 57986375 missense possibly damaging 0.91
IGL01328:Fam83a APN 15 57986505 missense probably damaging 1.00
IGL02306:Fam83a APN 15 57995308 missense probably damaging 1.00
IGL03062:Fam83a APN 15 57993077 splice site probably null
R0110:Fam83a UTSW 15 58009926 missense probably benign 0.09
R0450:Fam83a UTSW 15 58009926 missense probably benign 0.09
R0469:Fam83a UTSW 15 58009926 missense probably benign 0.09
R0533:Fam83a UTSW 15 58009811 missense probably benign 0.43
R1210:Fam83a UTSW 15 57995248 missense possibly damaging 0.95
R1386:Fam83a UTSW 15 57986503 missense probably damaging 1.00
R1474:Fam83a UTSW 15 58009876 missense probably benign 0.02
R1476:Fam83a UTSW 15 58009945 missense probably benign 0.00
R1969:Fam83a UTSW 15 57986102 missense probably damaging 1.00
R4463:Fam83a UTSW 15 57995259 missense probably damaging 1.00
R5088:Fam83a UTSW 15 58009800 missense probably benign 0.00
R5961:Fam83a UTSW 15 58009596 missense possibly damaging 0.90
R6307:Fam83a UTSW 15 57986111 missense possibly damaging 0.93
R6524:Fam83a UTSW 15 57995340 critical splice donor site probably null
R6676:Fam83a UTSW 15 57993043 missense possibly damaging 0.91
R7412:Fam83a UTSW 15 57986425 missense probably benign
R7447:Fam83a UTSW 15 58009690 missense probably benign 0.00
R7493:Fam83a UTSW 15 57986173 missense probably damaging 1.00
X0023:Fam83a UTSW 15 58009605 missense possibly damaging 0.72
Posted On2013-12-09