Incidental Mutation 'IGL01061:Fam83a'
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ID52751
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: 0.055) question?
Stock #IGL01061
Quality Score
Status
Chromosome15
Chromosomal Location57985419-58011009 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57986375 bp
ZygosityHeterozygous
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]
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: 78,907,302 M299I probably damaging Het
Ankfy1 T A 11: 72,728,860 C186* probably null Het
Ankmy1 A T 1: 92,870,974 probably benign Het
B3gnt2 T A 11: 22,836,042 E382V probably damaging Het
Carmil3 T G 14: 55,498,630 S610A possibly damaging Het
Cfap70 T C 14: 20,447,625 probably benign Het
Chek1 G A 9: 36,714,519 R277C possibly damaging Het
Cpb1 T A 3: 20,266,516 I92L probably benign Het
Ddx56 C T 11: 6,264,671 probably null Het
Dicer1 A T 12: 104,706,327 M887K probably null Het
Dnajc18 A G 18: 35,680,942 probably benign Het
Dock2 A G 11: 34,705,826 V401A probably damaging Het
Dock4 A C 12: 40,702,969 N434T probably benign Het
Ehbp1l1 A T 19: 5,717,888 M1129K probably benign Het
Fnbp1 C A 2: 31,083,042 D70Y probably damaging Het
Gtf3c2 A G 5: 31,168,354 F414L possibly damaging Het
Kdelc2 A G 9: 53,388,587 probably benign Het
Kndc1 A T 7: 139,922,694 E965D probably benign Het
Lrrc66 T C 5: 73,615,499 K209E probably benign Het
Mcm3 A T 1: 20,814,496 I261N possibly damaging Het
Mier3 T A 13: 111,714,436 probably benign Het
Muc6 T C 7: 141,648,454 E669G probably damaging Het
Myh1 T A 11: 67,217,862 M1368K probably benign Het
Nav1 A G 1: 135,450,630 I1653T probably damaging Het
Nuak1 C A 10: 84,375,134 L363F probably damaging Het
Olfr113 A G 17: 37,574,904 I173T possibly damaging Het
Olfr1502 T C 19: 13,862,705 V304A possibly damaging Het
Olfr690 A G 7: 105,329,382 I270T possibly damaging Het
Pkd1l3 A G 8: 109,638,706 H1153R probably damaging Het
Ppp6r2 A T 15: 89,286,015 probably benign Het
Prelid3b T C 2: 174,465,821 probably null Het
Prrt3 T C 6: 113,497,770 K164E possibly damaging Het
Rab22a T A 2: 173,688,210 D60E probably damaging Het
Rab32 A G 10: 10,557,874 L72P probably damaging Het
Samm50 A G 15: 84,202,254 T225A probably benign Het
Snx27 T A 3: 94,528,980 probably benign Het
Taf7 G A 18: 37,643,433 T27M probably damaging Het
Tgm5 A T 2: 121,071,496 C231S probably benign Het
Tll1 A G 8: 64,038,454 probably null Het
Tmem150a A G 6: 72,357,118 D61G probably damaging Het
Ttll8 G A 15: 88,917,250 R412C possibly damaging Het
Ubr3 T A 2: 69,983,225 D1293E probably benign Het
Utp20 T C 10: 88,770,704 N1669D probably benign Het
Vmn2r28 A G 7: 5,488,184 W355R probably damaging Het
Wdr60 C A 12: 116,229,704 A543S probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfhx2 T A 14: 55,073,882 N452Y possibly damaging Het
Zfp180 T G 7: 24,104,745 D196E possibly damaging Het
Other mutations in Fam83a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Fam83a APN 15 57986505 missense probably damaging 1.00
IGL01590:Fam83a APN 15 58009777 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 On2013-06-21