Incidental Mutation 'IGL01463:Fam83h'
ID 88047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam83h
Ensembl Gene ENSMUSG00000046761
Gene Name family with sequence similarity 83, member H
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # IGL01463
Quality Score
Status
Chromosome 15
Chromosomal Location 75872942-75886185 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 75875637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 567 (R567S)
Ref Sequence ENSEMBL: ENSMUSP00000126453 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060807] [ENSMUST00000089669] [ENSMUST00000170153]
AlphaFold Q148V8
Predicted Effect possibly damaging
Transcript: ENSMUST00000060807
AA Change: R567S

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059839
Gene: ENSMUSG00000046761
AA Change: R567S

DomainStartEndE-ValueType
Pfam:DUF1669 12 283 3.4e-105 PFAM
low complexity region 304 317 N/A INTRINSIC
low complexity region 562 578 N/A INTRINSIC
low complexity region 629 652 N/A INTRINSIC
low complexity region 671 679 N/A INTRINSIC
low complexity region 685 697 N/A INTRINSIC
low complexity region 736 747 N/A INTRINSIC
internal_repeat_1 836 877 9.35e-9 PROSPERO
internal_repeat_1 877 921 9.35e-9 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000089669
SMART Domains Protein: ENSMUSP00000087098
Gene: ENSMUSG00000063704

DomainStartEndE-ValueType
S_TKc 14 305 7.08e-97 SMART
low complexity region 391 404 N/A INTRINSIC
low complexity region 424 434 N/A INTRINSIC
low complexity region 475 505 N/A INTRINSIC
low complexity region 513 525 N/A INTRINSIC
low complexity region 538 548 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160637
Predicted Effect possibly damaging
Transcript: ENSMUST00000170153
AA Change: R567S

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126453
Gene: ENSMUSG00000046761
AA Change: R567S

DomainStartEndE-ValueType
Pfam:DUF1669 4 284 2.1e-110 PFAM
low complexity region 304 317 N/A INTRINSIC
low complexity region 562 578 N/A INTRINSIC
low complexity region 629 652 N/A INTRINSIC
low complexity region 671 679 N/A INTRINSIC
low complexity region 685 697 N/A INTRINSIC
low complexity region 736 747 N/A INTRINSIC
internal_repeat_1 836 877 9.35e-9 PROSPERO
internal_repeat_1 877 921 9.35e-9 PROSPERO
Predicted Effect probably benign
Transcript: ENSMUST00000230929
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,142,790 (GRCm39) D773G probably damaging Het
Clvs1 A G 4: 9,429,818 (GRCm39) T274A probably benign Het
Cyp2c50 G T 19: 40,079,422 (GRCm39) C172F probably damaging Het
Fastkd1 A G 2: 69,520,405 (GRCm39) probably null Het
Gmds A T 13: 32,418,341 (GRCm39) Y48N probably damaging Het
Mov10 C T 3: 104,707,640 (GRCm39) R578H probably damaging Het
Pcna A T 2: 132,093,349 (GRCm39) Y133N probably damaging Het
Rhag T C 17: 41,139,646 (GRCm39) I126T probably damaging Het
Sdr16c6 C T 4: 4,063,238 (GRCm39) G179D probably damaging Het
Sv2b C T 7: 74,786,203 (GRCm39) G406S probably damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Vmn2r93 T A 17: 18,525,150 (GRCm39) N269K probably damaging Het
Other mutations in Fam83h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01340:Fam83h APN 15 75,875,885 (GRCm39) missense probably damaging 0.98
IGL01789:Fam83h APN 15 75,877,969 (GRCm39) missense probably damaging 1.00
IGL02029:Fam83h APN 15 75,878,287 (GRCm39) missense probably damaging 1.00
IGL02157:Fam83h APN 15 75,876,904 (GRCm39) missense probably damaging 1.00
IGL03225:Fam83h APN 15 75,875,150 (GRCm39) missense probably damaging 1.00
PIT4260001:Fam83h UTSW 15 75,873,746 (GRCm39) missense probably damaging 1.00
R0008:Fam83h UTSW 15 75,875,811 (GRCm39) missense probably damaging 1.00
R0071:Fam83h UTSW 15 75,874,377 (GRCm39) missense probably benign
R0318:Fam83h UTSW 15 75,875,478 (GRCm39) missense probably benign 0.04
R0539:Fam83h UTSW 15 75,875,076 (GRCm39) missense possibly damaging 0.88
R0638:Fam83h UTSW 15 75,875,776 (GRCm39) missense probably benign 0.01
R0790:Fam83h UTSW 15 75,875,241 (GRCm39) missense probably benign 0.43
R0883:Fam83h UTSW 15 75,878,018 (GRCm39) missense probably damaging 1.00
R1970:Fam83h UTSW 15 75,878,419 (GRCm39) unclassified probably benign
R2046:Fam83h UTSW 15 75,874,787 (GRCm39) missense probably benign
R2114:Fam83h UTSW 15 75,874,146 (GRCm39) missense probably damaging 1.00
R2115:Fam83h UTSW 15 75,874,146 (GRCm39) missense probably damaging 1.00
R2117:Fam83h UTSW 15 75,876,582 (GRCm39) nonsense probably null
R3702:Fam83h UTSW 15 75,874,499 (GRCm39) missense probably benign
R3842:Fam83h UTSW 15 75,874,499 (GRCm39) missense probably benign
R4729:Fam83h UTSW 15 75,874,185 (GRCm39) missense probably benign
R4791:Fam83h UTSW 15 75,874,217 (GRCm39) missense probably damaging 1.00
R5024:Fam83h UTSW 15 75,876,991 (GRCm39) missense probably damaging 1.00
R5471:Fam83h UTSW 15 75,874,752 (GRCm39) missense probably benign 0.00
R6013:Fam83h UTSW 15 75,875,849 (GRCm39) missense probably damaging 0.99
R6488:Fam83h UTSW 15 75,873,902 (GRCm39) missense possibly damaging 0.67
R6558:Fam83h UTSW 15 75,876,302 (GRCm39) missense probably damaging 1.00
R6618:Fam83h UTSW 15 75,875,360 (GRCm39) missense probably damaging 1.00
R7030:Fam83h UTSW 15 75,876,588 (GRCm39) missense probably benign 0.08
R7148:Fam83h UTSW 15 75,877,016 (GRCm39) missense probably damaging 0.98
R7191:Fam83h UTSW 15 75,874,886 (GRCm39) missense probably damaging 1.00
R7438:Fam83h UTSW 15 75,876,275 (GRCm39) missense possibly damaging 0.93
R7705:Fam83h UTSW 15 75,875,699 (GRCm39) missense probably damaging 0.99
R8194:Fam83h UTSW 15 75,874,624 (GRCm39) small deletion probably benign
R8218:Fam83h UTSW 15 75,874,886 (GRCm39) missense probably damaging 1.00
R8282:Fam83h UTSW 15 75,874,624 (GRCm39) small deletion probably benign
R8293:Fam83h UTSW 15 75,874,624 (GRCm39) small deletion probably benign
R8493:Fam83h UTSW 15 75,874,502 (GRCm39) missense probably benign 0.00
R8910:Fam83h UTSW 15 75,874,844 (GRCm39) missense probably benign 0.01
R9025:Fam83h UTSW 15 75,874,182 (GRCm39) missense probably benign 0.27
R9028:Fam83h UTSW 15 75,875,738 (GRCm39) missense possibly damaging 0.54
R9099:Fam83h UTSW 15 75,875,135 (GRCm39) missense probably damaging 1.00
R9320:Fam83h UTSW 15 75,873,924 (GRCm39) missense possibly damaging 0.56
R9649:Fam83h UTSW 15 75,877,976 (GRCm39) missense probably damaging 1.00
X0010:Fam83h UTSW 15 75,876,788 (GRCm39) critical splice donor site probably null
X0061:Fam83h UTSW 15 75,875,352 (GRCm39) missense probably damaging 1.00
Z1177:Fam83h UTSW 15 75,878,390 (GRCm39) missense probably damaging 1.00
Z1177:Fam83h UTSW 15 75,874,811 (GRCm39) missense probably benign 0.00
Posted On 2013-11-18