Incidental Mutation 'IGL01061:Fam83a'
ID 52751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam83a
Ensembl Gene ENSMUSG00000051225
Gene Name family with sequence similarity 83, member A
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL01061
Quality Score
Status
Chromosome 15
Chromosomal Location 57848815-57874405 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57849771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 105 (Y105F)
Ref Sequence ENSEMBL: ENSMUSP00000125464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050374] [ENSMUST00000160942]
AlphaFold Q8K2P2
Predicted Effect possibly damaging
Transcript: ENSMUST00000050374
AA Change: Y105F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050051
Gene: ENSMUSG00000051225
AA Change: Y105F

DomainStartEndE-ValueType
Pfam:DUF1669 14 258 6e-85 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000160942
AA Change: Y105F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125464
Gene: ENSMUSG00000051225
AA Change: Y105F

DomainStartEndE-ValueType
Pfam:DUF1669 19 295 3.6e-102 PFAM
low complexity region 350 361 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ankfy1 T A 11: 72,619,686 (GRCm39) C186* probably null Het
Ankmy1 A T 1: 92,798,696 (GRCm39) probably benign Het
B3gnt2 T A 11: 22,786,042 (GRCm39) E382V probably damaging Het
Carmil3 T G 14: 55,736,087 (GRCm39) S610A possibly damaging Het
Cfap70 T C 14: 20,497,693 (GRCm39) probably benign Het
Chek1 G A 9: 36,625,815 (GRCm39) R277C possibly damaging Het
Cpb1 T A 3: 20,320,680 (GRCm39) I92L probably benign Het
Ddx56 C T 11: 6,214,671 (GRCm39) probably null Het
Dicer1 A T 12: 104,672,586 (GRCm39) M887K probably null Het
Dnajc18 A G 18: 35,813,995 (GRCm39) probably benign Het
Dock2 A G 11: 34,596,653 (GRCm39) V401A probably damaging Het
Dock4 A C 12: 40,752,968 (GRCm39) N434T probably benign Het
Dync2i1 C A 12: 116,193,324 (GRCm39) A543S probably benign Het
Ehbp1l1 A T 19: 5,767,916 (GRCm39) M1129K probably benign Het
Fnbp1 C A 2: 30,973,054 (GRCm39) D70Y probably damaging Het
Gtf3c2 A G 5: 31,325,698 (GRCm39) F414L possibly damaging Het
Kndc1 A T 7: 139,502,610 (GRCm39) E965D probably benign Het
Lrrc66 T C 5: 73,772,842 (GRCm39) K209E probably benign Het
Mcm3 A T 1: 20,884,720 (GRCm39) I261N possibly damaging Het
Mier3 T A 13: 111,850,970 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,720 (GRCm39) E669G probably damaging Het
Myh1 T A 11: 67,108,688 (GRCm39) M1368K probably benign Het
Nav1 A G 1: 135,378,368 (GRCm39) I1653T probably damaging Het
Nuak1 C A 10: 84,210,998 (GRCm39) L363F probably damaging Het
Or14j2 A G 17: 37,885,795 (GRCm39) I173T possibly damaging Het
Or52b1 A G 7: 104,978,589 (GRCm39) I270T possibly damaging Het
Or9i1 T C 19: 13,840,069 (GRCm39) V304A possibly damaging Het
Pkd1l3 A G 8: 110,365,338 (GRCm39) H1153R probably damaging Het
Poglut3 A G 9: 53,299,887 (GRCm39) probably benign Het
Ppp6r2 A T 15: 89,170,218 (GRCm39) probably benign Het
Prelid3b T C 2: 174,307,614 (GRCm39) probably null Het
Prrt3 T C 6: 113,474,731 (GRCm39) K164E possibly damaging Het
Rab22a T A 2: 173,530,003 (GRCm39) D60E probably damaging Het
Rab32 A G 10: 10,433,618 (GRCm39) L72P probably damaging Het
Samm50 A G 15: 84,086,455 (GRCm39) T225A probably benign Het
Snx27 T A 3: 94,436,287 (GRCm39) probably benign Het
Taf7 G A 18: 37,776,486 (GRCm39) T27M probably damaging Het
Tgm5 A T 2: 120,901,977 (GRCm39) C231S probably benign Het
Tll1 A G 8: 64,491,488 (GRCm39) probably null Het
Tmem150a A G 6: 72,334,101 (GRCm39) D61G probably damaging Het
Ttll8 G A 15: 88,801,453 (GRCm39) R412C possibly damaging Het
Ubr3 T A 2: 69,813,569 (GRCm39) D1293E probably benign Het
Utp20 T C 10: 88,606,566 (GRCm39) N1669D probably benign Het
Vmn2r28 A G 7: 5,491,183 (GRCm39) W355R probably damaging Het
Yars2 C T 16: 16,124,406 (GRCm39) R338* probably null Het
Zfhx2 T A 14: 55,311,339 (GRCm39) N452Y possibly damaging Het
Zfp180 T G 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Other mutations in Fam83a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Fam83a APN 15 57,849,901 (GRCm39) missense probably damaging 1.00
IGL01590:Fam83a APN 15 57,873,173 (GRCm39) missense probably damaging 1.00
IGL02306:Fam83a APN 15 57,858,704 (GRCm39) missense probably damaging 1.00
IGL03062:Fam83a APN 15 57,856,473 (GRCm39) splice site probably null
R0110:Fam83a UTSW 15 57,873,322 (GRCm39) missense probably benign 0.09
R0450:Fam83a UTSW 15 57,873,322 (GRCm39) missense probably benign 0.09
R0469:Fam83a UTSW 15 57,873,322 (GRCm39) missense probably benign 0.09
R0533:Fam83a UTSW 15 57,873,207 (GRCm39) missense probably benign 0.43
R1210:Fam83a UTSW 15 57,858,644 (GRCm39) missense possibly damaging 0.95
R1386:Fam83a UTSW 15 57,849,899 (GRCm39) missense probably damaging 1.00
R1474:Fam83a UTSW 15 57,873,272 (GRCm39) missense probably benign 0.02
R1476:Fam83a UTSW 15 57,873,341 (GRCm39) missense probably benign 0.00
R1969:Fam83a UTSW 15 57,849,498 (GRCm39) missense probably damaging 1.00
R4463:Fam83a UTSW 15 57,858,655 (GRCm39) missense probably damaging 1.00
R5088:Fam83a UTSW 15 57,873,196 (GRCm39) missense probably benign 0.00
R5961:Fam83a UTSW 15 57,872,992 (GRCm39) missense possibly damaging 0.90
R6307:Fam83a UTSW 15 57,849,507 (GRCm39) missense possibly damaging 0.93
R6524:Fam83a UTSW 15 57,858,736 (GRCm39) critical splice donor site probably null
R6676:Fam83a UTSW 15 57,856,439 (GRCm39) missense possibly damaging 0.91
R7412:Fam83a UTSW 15 57,849,821 (GRCm39) missense probably benign
R7447:Fam83a UTSW 15 57,873,086 (GRCm39) missense probably benign 0.00
R7493:Fam83a UTSW 15 57,849,569 (GRCm39) missense probably damaging 1.00
R8379:Fam83a UTSW 15 57,873,196 (GRCm39) missense probably benign 0.00
R8424:Fam83a UTSW 15 57,873,046 (GRCm39) missense possibly damaging 0.45
R8728:Fam83a UTSW 15 57,873,062 (GRCm39) missense possibly damaging 0.64
R8856:Fam83a UTSW 15 57,872,977 (GRCm39) missense probably damaging 1.00
R8925:Fam83a UTSW 15 57,873,313 (GRCm39) missense probably benign 0.01
R8927:Fam83a UTSW 15 57,873,313 (GRCm39) missense probably benign 0.01
R9514:Fam83a UTSW 15 57,849,765 (GRCm39) missense possibly damaging 0.64
R9721:Fam83a UTSW 15 57,849,513 (GRCm39) missense probably benign 0.00
X0023:Fam83a UTSW 15 57,873,001 (GRCm39) missense possibly damaging 0.72
Posted On 2013-06-21