Mutagenetix > Incidental Mutation

Incidental Mutation 'R3418:Fam20c'

266892

Institutional Source

Beutler Lab

Gene Symbol

Fam20c

Ensembl Gene

ENSMUSG00000025854

Gene Name

FAM20C, golgi associated secretory pathway kinase

Synonyms

DMP4

MMRRC Submission

040636-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.401) question?

Stock #

R3418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138740836-138795818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138743623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 220 (N220Y)

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: N220Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026972
Gene: ENSMUSG00000025854
AA Change: N220Y

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000160645

SMART Domains

Protein: ENSMUSP00000124584
Gene: ENSMUSG00000025854

Domain	Start	End	E-Value	Type
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

0.2778

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Acaa1a	A	G	9: 119,178,556 (GRCm39)		probably null	Het
Agbl5	T	C	5: 31,062,067 (GRCm39)	S756P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Cdc16	C	T	8: 13,819,489 (GRCm39)	Q362*	probably null	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Cep170b	C	T	12: 112,704,902 (GRCm39)	Q887*	probably null	Het
Chd9	T	C	8: 91,763,219 (GRCm39)	I2348T	probably damaging	Het
Clec9a	A	G	6: 129,398,001 (GRCm39)		probably benign	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
D130040H23Rik	T	C	8: 69,755,579 (GRCm39)	I328T	probably benign	Het
Dido1	G	T	2: 180,302,728 (GRCm39)	D1725E	possibly damaging	Het
Dnajb14	A	G	3: 137,598,631 (GRCm39)	D123G	probably null	Het
Dock2	A	T	11: 34,580,587 (GRCm39)	M661K	probably damaging	Het
Esam	C	T	9: 37,448,426 (GRCm39)		probably null	Het
Fat2	G	T	11: 55,169,824 (GRCm39)	H2978Q	probably benign	Het
Fbn1	T	C	2: 125,162,846 (GRCm39)	T2147A	possibly damaging	Het
Fdft1	T	C	14: 63,394,070 (GRCm39)	T214A	probably damaging	Het
Fhl5	T	C	4: 25,211,252 (GRCm39)	S147G	probably benign	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gcat	A	T	15: 78,926,297 (GRCm39)	T56S	possibly damaging	Het
Gemin5	A	T	11: 58,047,454 (GRCm39)		probably null	Het
Gm4736	A	T	6: 132,092,640 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,820,108 (GRCm39)	N368S	probably benign	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Htr1f	G	A	16: 64,746,260 (GRCm39)	P344L	probably damaging	Het
Ighv7-3	T	A	12: 114,116,919 (GRCm39)	Y81F	probably damaging	Het
Jakmip3	C	A	7: 138,619,474 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Khdrbs3	T	C	15: 68,921,224 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Myom2	T	G	8: 15,135,294 (GRCm39)	I499S	probably benign	Het
Nos2	T	A	11: 78,850,521 (GRCm39)	F1126L	possibly damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pou6f1	C	A	15: 100,478,805 (GRCm39)	V368L	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rbm45	A	G	2: 76,209,362 (GRCm39)	E392G	probably damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Rnf222	G	T	11: 68,783,982 (GRCm39)	R183L	probably damaging	Het
Robo1	C	T	16: 72,832,805 (GRCm39)	T1526I	probably benign	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Slc13a2	A	G	11: 78,291,666 (GRCm39)	F329S	probably benign	Het
Smc2	T	C	4: 52,476,850 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,446 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tgfbr2	T	C	9: 115,958,901 (GRCm39)	Y146C	probably damaging	Het
Tnfrsf11a	A	G	1: 105,737,130 (GRCm39)	D79G	possibly damaging	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Ubn1	A	G	16: 4,892,243 (GRCm39)		probably benign	Het
Ubp1	T	C	9: 113,780,754 (GRCm39)		probably null	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	Het

Other mutations in Fam20c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GCGAACCTGTACTTTGAACTC -3'
(R):5'- AAAGTGTGGCTCCCTGCATAG -3'

Sequencing Primer
(F):5'- TTTGAACTCAAAGTCCCAAGCC -3'
(R):5'- GGAGGCTAACTTCACACAGTCCTG -3'

Posted On

2015-02-18