Incidental Mutation 'IGL02563:Fam20a'
ID 298750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam20a
Ensembl Gene ENSMUSG00000020614
Gene Name family with sequence similarity 20, member A
Synonyms
Accession Numbers

Ncbi RefSeq: NM_153782.1; MGI:2388266
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02563
Quality Score
Status
Chromosome 11
Chromosomal Location 109669749-109722279 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 109677794 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 302 (Q302L)
Ref Sequence ENSEMBL: ENSMUSP00000116687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020938] [ENSMUST00000155559]
AlphaFold Q8CID3
Predicted Effect possibly damaging
Transcript: ENSMUST00000020938
AA Change: Q302L

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: Q302L

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
low complexity region 50 61 N/A INTRINSIC
Pfam:Fam20C 306 522 8.9e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146408
Predicted Effect possibly damaging
Transcript: ENSMUST00000155559
AA Change: Q302L

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: Q302L

DomainStartEndE-ValueType
transmembrane domain 9 28 N/A INTRINSIC
low complexity region 50 61 N/A INTRINSIC
Pfam:DUF1193 305 525 3.2e-103 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 5432376
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ameloblast morphology, disrupted dental enamel formation in both incisor and molar teeth, abnormal kidney morphology, disseminated calcifications of muscular arteries, and intrapulmonary calcifications. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted(2)
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A T 2: 35,380,398 V97E probably damaging Het
9530053A07Rik G A 7: 28,157,892 E2222K probably benign Het
Abhd16a C T 17: 35,101,245 T362M probably damaging Het
Adam23 T G 1: 63,567,977 probably benign Het
Apeh C A 9: 108,093,709 R87L possibly damaging Het
Arid3a T A 10: 79,950,883 M490K probably damaging Het
Atp6v1b1 T A 6: 83,755,451 V251D probably benign Het
Cog8 C T 8: 107,056,423 R78Q possibly damaging Het
Cyld T C 8: 88,735,894 I701T probably damaging Het
Dmgdh A G 13: 93,674,539 probably benign Het
Dnm1 T C 2: 32,315,919 probably null Het
Dopey2 T A 16: 93,777,405 V2D probably damaging Het
Dusp22 A T 13: 30,705,645 S70C possibly damaging Het
Dync2h1 T C 9: 7,035,700 Q3415R possibly damaging Het
Dysf T C 6: 84,186,516 probably benign Het
Fam114a1 G A 5: 65,006,148 probably null Het
Fancm T A 12: 65,092,462 L374H probably damaging Het
Fgf17 G A 14: 70,636,738 Q204* probably null Het
Gap43 T C 16: 42,292,132 T89A probably benign Het
Gm5069 A G 1: 180,327,899 probably benign Het
Gm9913 C T 2: 125,506,334 probably benign Het
Gpr174 T C X: 107,293,248 L222P probably benign Het
Grid2 A T 6: 64,345,873 Q619L possibly damaging Het
Hoxc13 A G 15: 102,921,798 D204G possibly damaging Het
Itgav T C 2: 83,771,236 V317A probably benign Het
Keg1 A T 19: 12,719,157 N288I probably damaging Het
Ksr1 C T 11: 79,044,858 V234I possibly damaging Het
Lrp1 T A 10: 127,551,686 D3365V probably damaging Het
Luc7l3 A T 11: 94,300,068 probably null Het
Mta2 T C 19: 8,948,051 I348T probably benign Het
Nphp4 A G 4: 152,556,220 I1015V probably benign Het
Nup214 C T 2: 31,977,860 S113F probably damaging Het
Olfr1303 T C 2: 111,813,817 K303R probably benign Het
Pabpn1l T A 8: 122,620,383 T228S probably damaging Het
Paxx T C 2: 25,459,662 *206W probably null Het
Pcdhb10 A G 18: 37,413,073 T401A probably benign Het
Ppp1r3a A C 6: 14,719,762 D384E probably benign Het
Rif1 T C 2: 52,077,065 V122A probably damaging Het
Scn4b T C 9: 45,146,682 L24P probably damaging Het
Sec22c T C 9: 121,684,650 probably benign Het
Sh3rf2 A G 18: 42,156,142 D676G probably damaging Het
Slc20a1 A G 2: 129,207,684 T289A probably benign Het
Tekt2 T C 4: 126,324,625 D84G possibly damaging Het
Tgfbr2 T A 9: 116,129,998 N116I probably benign Het
Tmem196 A G 12: 119,946,474 M1V probably null Het
Tnn A G 1: 160,114,553 V1125A probably damaging Het
Vmn2r51 A T 7: 10,100,316 M265K probably benign Het
Zfp319 T C 8: 95,323,734 probably benign Het
Zfp65 A T 13: 67,708,065 V365E possibly damaging Het
Zp3 T A 5: 135,987,610 probably null Het
Other mutations in Fam20a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Fam20a APN 11 109677762 splice site probably benign
IGL01296:Fam20a APN 11 109685351 missense possibly damaging 0.93
IGL01319:Fam20a APN 11 109678458 splice site probably benign
IGL01322:Fam20a APN 11 109682912 missense probably damaging 1.00
IGL02086:Fam20a APN 11 109673413 missense probably benign 0.00
IGL02883:Fam20a APN 11 109675127 missense probably damaging 0.99
IGL02893:Fam20a APN 11 109721588 missense probably benign 0.00
Infamy UTSW 11 109673342 missense possibly damaging 0.87
snide UTSW 11 109721375 missense possibly damaging 0.92
ungainly UTSW 11 109682870 nonsense probably null
P0026:Fam20a UTSW 11 109675841 critical splice donor site probably null
R0726:Fam20a UTSW 11 109677194 missense probably damaging 1.00
R1317:Fam20a UTSW 11 109677838 missense probably damaging 0.99
R1462:Fam20a UTSW 11 109677317 missense probably damaging 1.00
R1462:Fam20a UTSW 11 109677317 missense probably damaging 1.00
R1751:Fam20a UTSW 11 109677838 missense probably damaging 0.99
R1761:Fam20a UTSW 11 109677838 missense probably damaging 0.99
R1889:Fam20a UTSW 11 109673554 missense probably benign 0.30
R1895:Fam20a UTSW 11 109673554 missense probably benign 0.30
R1971:Fam20a UTSW 11 109685411 missense probably damaging 1.00
R2192:Fam20a UTSW 11 109674623 missense probably benign 0.13
R3745:Fam20a UTSW 11 109677790 missense probably benign 0.17
R4684:Fam20a UTSW 11 109721687 missense unknown
R4835:Fam20a UTSW 11 109673563 missense probably benign 0.40
R5045:Fam20a UTSW 11 109677885 missense probably benign 0.38
R5161:Fam20a UTSW 11 109673370 missense probably benign 0.00
R5715:Fam20a UTSW 11 109678431 missense probably damaging 1.00
R5817:Fam20a UTSW 11 109673418 missense possibly damaging 0.81
R5960:Fam20a UTSW 11 109675969 intron probably benign
R6162:Fam20a UTSW 11 109682870 nonsense probably null
R6312:Fam20a UTSW 11 109674630 missense probably damaging 1.00
R7231:Fam20a UTSW 11 109721375 missense possibly damaging 0.92
R7311:Fam20a UTSW 11 109674628 nonsense probably null
R7366:Fam20a UTSW 11 109673342 missense possibly damaging 0.87
R8013:Fam20a UTSW 11 109685506 missense possibly damaging 0.92
R8014:Fam20a UTSW 11 109685506 missense possibly damaging 0.92
R9086:Fam20a UTSW 11 109675928 nonsense probably null
R9751:Fam20a UTSW 11 109675166 missense probably damaging 1.00
Posted On 2015-04-16