Incidental Mutation 'R0615:Fam20c'
ID 55007
Institutional Source Beutler Lab
Gene Symbol Fam20c
Ensembl Gene ENSMUSG00000025854
Gene Name FAM20C, golgi associated secretory pathway kinase
Synonyms DMP4
MMRRC Submission 038804-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.401) question?
Stock # R0615 (G1)
Quality Score 208
Status Validated
Chromosome 5
Chromosomal Location 138740836-138795818 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 138793241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 454 (R454Q)
Ref Sequence ENSEMBL: ENSMUSP00000026972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026972] [ENSMUST00000160645]
AlphaFold Q5MJS3
Predicted Effect probably damaging
Transcript: ENSMUST00000026972
AA Change: R454Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026972
Gene: ENSMUSG00000025854
AA Change: R454Q

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 noncoding transcript
Transcript: ENSMUST00000159176
Predicted Effect probably benign
Transcript: ENSMUST00000160645
SMART Domains Protein: ENSMUSP00000124584
Gene: ENSMUSG00000025854

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: ENSMUST00000160988
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161641
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T C 19: 42,040,962 (GRCm39) I31T possibly damaging Het
Abca13 A G 11: 9,206,197 (GRCm39) I166V probably damaging Het
Acaa2 G T 18: 74,931,517 (GRCm39) V238L probably benign Het
Ahsg A T 16: 22,717,805 (GRCm39) I296F possibly damaging Het
Aspm T A 1: 139,415,027 (GRCm39) V1436D probably damaging Het
Ate1 A T 7: 130,115,563 (GRCm39) probably benign Het
Atosa T A 9: 74,911,570 (GRCm39) Y14N probably damaging Het
Atp1a4 A T 1: 172,059,627 (GRCm39) probably benign Het
Aurkc A T 7: 7,005,402 (GRCm39) I223L possibly damaging Het
Bckdha G T 7: 25,341,210 (GRCm39) D50E probably benign Het
Brf2 C T 8: 27,614,059 (GRCm39) E376K probably benign Het
Cdk9 C A 2: 32,599,813 (GRCm39) L141F possibly damaging Het
Cgn A C 3: 94,678,024 (GRCm39) probably benign Het
Clcn1 G A 6: 42,282,509 (GRCm39) V526I probably damaging Het
Cnot2 A G 10: 116,334,141 (GRCm39) V343A possibly damaging Het
Commd2 A T 3: 57,554,116 (GRCm39) V195D possibly damaging Het
Cubn C T 2: 13,365,063 (GRCm39) probably null Het
Eif2ak4 C T 2: 118,266,666 (GRCm39) T729M probably damaging Het
Elac1 A T 18: 73,871,954 (GRCm39) V347E probably damaging Het
Fam209 T C 2: 172,316,053 (GRCm39) S143P probably benign Het
Faxc C T 4: 21,958,608 (GRCm39) S255L probably benign Het
Fem1al C A 11: 29,774,515 (GRCm39) R314L probably damaging Het
Foxj1 T C 11: 116,224,908 (GRCm39) D153G possibly damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Lmo7 T A 14: 102,114,295 (GRCm39) Y12* probably null Het
Matn3 T G 12: 9,013,594 (GRCm39) C425W probably damaging Het
Mmd2 A T 5: 142,550,668 (GRCm39) M190K probably benign Het
Morn2 A T 17: 80,603,026 (GRCm39) T102S probably damaging Het
Nr3c2 A C 8: 77,912,518 (GRCm39) T710P probably benign Het
Nrros C A 16: 31,962,903 (GRCm39) L343F probably damaging Het
Ntrk2 C T 13: 59,276,000 (GRCm39) Q767* probably null Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or4k47 C T 2: 111,452,264 (GRCm39) D52N possibly damaging Het
Plekhf2 C T 4: 10,991,330 (GRCm39) R4H probably benign Het
Ppox A G 1: 171,105,387 (GRCm39) probably benign Het
Qprt T A 7: 126,708,248 (GRCm39) D61V probably damaging Het
Reln A G 5: 22,215,148 (GRCm39) V1101A probably benign Het
Sbno1 T C 5: 124,548,202 (GRCm39) N124D probably damaging Het
Scx C T 15: 76,342,295 (GRCm39) P165L probably benign Het
Sema6d T C 2: 124,496,055 (GRCm39) probably benign Het
Serf2 T C 2: 121,281,336 (GRCm39) F92L probably benign Het
Synpo2 A T 3: 122,910,936 (GRCm39) N236K probably damaging Het
Tbc1d32 C A 10: 56,100,736 (GRCm39) D81Y probably benign Het
Terf2 G A 8: 107,809,622 (GRCm39) T232I possibly damaging Het
Tpd52l2 A G 2: 181,143,744 (GRCm39) E50G probably damaging Het
Tprn A G 2: 25,154,210 (GRCm39) E504G probably damaging Het
Tufm G T 7: 126,086,654 (GRCm39) R12L probably benign Het
Vmn2r8 A G 5: 108,947,195 (GRCm39) F519S probably damaging Het
Vwa8 T C 14: 79,145,590 (GRCm39) V89A probably benign Het
Wnt3 T C 11: 103,703,207 (GRCm39) I230T possibly damaging Het
Zan A T 5: 137,466,693 (GRCm39) F388Y probably damaging Het
Zfp474 C T 18: 52,771,421 (GRCm39) L25F 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
R0197:Fam20c UTSW 5 138,741,479 (GRCm39) missense probably damaging 1.00
R0594:Fam20c UTSW 5 138,752,392 (GRCm39) missense possibly damaging 0.94
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'- TCGACCCTGATTACTGTGAGGAGG -3'
(R):5'- GTCACTGTCATGAATCCAGCACCC -3'

Sequencing Primer
(F):5'- CCTGATTACTGTGAGGAGGTGAAG -3'
(R):5'- CCGTTGTCCAAGTGGATGATGA -3'
Posted On 2013-07-11