Incidental Mutation 'R0197:Fam20c'
ID 60768
Institutional Source Beutler Lab
Gene Symbol Fam20c
Ensembl Gene ENSMUSG00000025854
Gene Name FAM20C, golgi associated secretory pathway kinase
Synonyms DMP4
MMRRC Submission 038456-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.401) question?
Stock # R0197 (G1)
Quality Score 121
Status Validated
Chromosome 5
Chromosomal Location 138740836-138795818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138741479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 30 (L30P)
Ref Sequence ENSEMBL: ENSMUSP00000124584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026972] [ENSMUST00000160645]
AlphaFold Q5MJS3
Predicted Effect probably damaging
Transcript: ENSMUST00000026972
AA Change: L30P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026972
Gene: ENSMUSG00000025854
AA Change: L30P

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
low complexity region 49 63 N/A INTRINSIC
low complexity region 132 156 N/A INTRINSIC
Pfam:Fam20C 349 565 4.5e-108 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160645
AA Change: L30P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124584
Gene: ENSMUSG00000025854
AA Change: L30P

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
low complexity region 49 63 N/A INTRINSIC
low complexity region 132 156 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197027
Meta Mutation Damage Score 0.5448 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.5%
  • 20x: 75.9%
Validation Efficiency 97% (121/125)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of secreted protein kinases. The encoded protein binds calcium and phosphorylates proteins involved in bone mineralization. Mutations in this gene are associated with the autosomal recessive disorder Raine syndrome. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice with global conditional deletion of this gene display infertility, dwarfism, delayed bone ossification, reduced bone mineralization, fragile skeletons, hypophosphatemic rickets, and impaired osteoblast differentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,632 (GRCm39) L1607P probably damaging Het
1700016H13Rik T C 5: 103,796,687 (GRCm39) *118W probably null Het
Abcc2 A T 19: 43,815,053 (GRCm39) R1147* probably null Het
Acsbg3 A T 17: 57,190,835 (GRCm39) N468Y probably benign Het
Agap2 A G 10: 126,927,571 (GRCm39) T1131A possibly damaging Het
Aldh9a1 A G 1: 167,189,416 (GRCm39) D388G probably damaging Het
Ap3d1 G T 10: 80,565,876 (GRCm39) A97E probably damaging Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Baiap2l1 C A 5: 144,202,820 (GRCm39) V498L probably damaging Het
Bltp2 A C 11: 78,160,530 (GRCm39) probably benign Het
Cdh2 T C 18: 16,762,633 (GRCm39) N437S probably benign Het
Cert1 T A 13: 96,685,795 (GRCm39) Y63N probably benign Het
Cfap119 T C 7: 127,184,034 (GRCm39) E261G probably damaging Het
Cfap20dc C T 14: 8,518,695 (GRCm38) G254R probably damaging Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Cstf2t A T 19: 31,062,026 (GRCm39) M521L probably benign Het
Dlx5 T C 6: 6,881,619 (GRCm39) K90E possibly damaging Het
Dmp1 A G 5: 104,355,496 (GRCm39) E32G possibly damaging Het
Espnl T G 1: 91,272,211 (GRCm39) Y524D probably damaging Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Gabrg1 A T 5: 70,931,732 (GRCm39) V337D probably damaging Het
Gart C A 16: 91,420,291 (GRCm39) D851Y possibly damaging Het
Gcc1 T C 6: 28,420,615 (GRCm39) H234R probably damaging Het
Gemin6 T A 17: 80,535,524 (GRCm39) H161Q probably damaging Het
Glt6d1 A G 2: 25,684,082 (GRCm39) I308T probably benign Het
Gm10320 T C 13: 98,628,491 (GRCm39) T7A probably benign Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Gmpr2 T A 14: 55,910,192 (GRCm39) D7E possibly damaging Het
Hc A G 2: 34,874,762 (GRCm39) Y1620H probably damaging Het
Hoxa3 T C 6: 52,147,123 (GRCm39) probably benign Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kdr G T 5: 76,129,082 (GRCm39) T188N possibly damaging Het
Lepr A T 4: 101,609,349 (GRCm39) D312V possibly damaging Het
Mcm3 A G 1: 20,880,329 (GRCm39) V501A probably damaging Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Med13l T C 5: 118,809,067 (GRCm39) probably benign Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Ndrg2 T A 14: 52,144,460 (GRCm39) probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Onecut2 T A 18: 64,474,543 (GRCm39) S365T possibly damaging Het
Or13c25 G A 4: 52,910,849 (GRCm39) T315M probably benign Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Or51e1 T A 7: 102,359,202 (GRCm39) H245Q probably damaging Het
Pds5b C A 5: 150,677,896 (GRCm39) Q505K probably benign Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
Rfx2 T C 17: 57,110,722 (GRCm39) Y88C probably damaging Het
Rpl6 T C 5: 121,346,541 (GRCm39) V214A probably benign Het
Samd3 T A 10: 26,147,752 (GRCm39) C476S possibly damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Shank1 C T 7: 44,001,718 (GRCm39) R1146W unknown Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Smpd4 T A 16: 17,459,461 (GRCm39) probably null Het
Strip1 C A 3: 107,521,929 (GRCm39) D750Y probably damaging Het
Svep1 T C 4: 58,070,851 (GRCm39) K2312E possibly damaging Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Tnfaip1 A T 11: 78,420,840 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp24 T A 4: 106,264,330 (GRCm39) W1754R probably damaging Het
Utp20 G A 10: 88,613,378 (GRCm39) P1301L probably benign Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vps41 T G 13: 19,038,833 (GRCm39) probably null Het
Vps72 G T 3: 95,029,894 (GRCm39) L304F probably damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zfp521 T C 18: 13,978,119 (GRCm39) T765A probably benign Het
Zfp616 A T 11: 73,976,500 (GRCm39) H923L probably damaging Het
Zp2 A T 7: 119,742,799 (GRCm39) probably benign Het
Other mutations in Fam20c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Fam20c APN 5 138,794,912 (GRCm39) missense probably benign
IGL01096:Fam20c APN 5 138,794,910 (GRCm39) missense possibly damaging 0.93
IGL01393:Fam20c APN 5 138,793,026 (GRCm39) missense probably damaging 1.00
IGL01576:Fam20c APN 5 138,793,094 (GRCm39) missense probably damaging 0.98
IGL01960:Fam20c APN 5 138,792,075 (GRCm39) missense probably damaging 0.99
IGL02317:Fam20c APN 5 138,792,115 (GRCm39) missense probably damaging 1.00
IGL02979:Fam20c APN 5 138,743,620 (GRCm39) missense probably damaging 1.00
IGL02988:Fam20c UTSW 5 138,741,749 (GRCm39) missense probably benign 0.20
R0594:Fam20c UTSW 5 138,752,392 (GRCm39) missense possibly damaging 0.94
R0615:Fam20c UTSW 5 138,793,241 (GRCm39) missense probably damaging 0.99
R1672:Fam20c UTSW 5 138,793,056 (GRCm39) missense probably damaging 1.00
R2044:Fam20c UTSW 5 138,741,982 (GRCm39) critical splice donor site probably null
R2484:Fam20c UTSW 5 138,794,872 (GRCm39) missense probably benign
R3418:Fam20c UTSW 5 138,743,623 (GRCm39) missense probably damaging 0.99
R3419:Fam20c UTSW 5 138,743,623 (GRCm39) missense probably damaging 0.99
R4205:Fam20c UTSW 5 138,741,431 (GRCm39) missense probably damaging 1.00
R5966:Fam20c UTSW 5 138,741,932 (GRCm39) missense probably damaging 1.00
R6346:Fam20c UTSW 5 138,752,450 (GRCm39) missense probably damaging 1.00
R7290:Fam20c UTSW 5 138,793,309 (GRCm39) missense probably damaging 1.00
R7559:Fam20c UTSW 5 138,778,954 (GRCm39) missense possibly damaging 0.91
R8321:Fam20c UTSW 5 138,743,686 (GRCm39) missense possibly damaging 0.71
R9347:Fam20c UTSW 5 138,743,676 (GRCm39) missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- ACAGAACAGAGGAGCCGCTTTGTC -3'
(R):5'- GCTGGATCTGAGCTGAAGTCTTGC -3'

Sequencing Primer
(F):5'- GCTAGTACACTGAATGGACCTTG -3'
(R):5'- TTGCAGGATGCGCAGTGT -3'
Posted On 2013-07-24