Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01960:Fam20c'

182391

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam20c

Ensembl Gene

ENSMUSG00000025854

Gene Name

FAM20C, golgi associated secretory pathway kinase

Synonyms

DMP4

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.478) question?

Stock #

IGL01960

Quality Score

Status

Chromosome

Chromosomal Location

138740836-138795818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138792075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 391 (S391P)

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: S391P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026972
Gene: ENSMUSG00000025854
AA Change: S391P

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

noncoding transcript
Transcript: ENSMUST00000159176

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: ENSMUST00000160988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161641

Coding Region Coverage

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	A	4: 129,906,177 (GRCm39)		probably benign	Het
Adh7	T	C	3: 137,932,043 (GRCm39)	I219T	probably damaging	Het
Ankmy1	C	A	1: 92,799,385 (GRCm39)		probably benign	Het
Aoc1	A	G	6: 48,885,537 (GRCm39)	I681V	probably benign	Het
Arfgap3	T	C	15: 83,197,758 (GRCm39)	T333A	probably benign	Het
Cdc42ep4	A	G	11: 113,619,830 (GRCm39)	V187A	probably benign	Het
Cyp4f40	G	A	17: 32,878,535 (GRCm39)	G26R	probably benign	Het
Dnah7b	T	A	1: 46,163,497 (GRCm39)		probably benign	Het
Dnajb4	T	C	3: 151,892,176 (GRCm39)	E219G	probably damaging	Het
Dnmt3b	A	G	2: 153,518,631 (GRCm39)	K578R	possibly damaging	Het
Dst	A	T	1: 34,329,570 (GRCm39)	D4649V	probably damaging	Het
Fbxw10	A	T	11: 62,767,582 (GRCm39)	Y801F	probably damaging	Het
Frem2	T	G	3: 53,429,725 (GRCm39)	E2775A	probably benign	Het
Frmd4b	A	T	6: 97,272,741 (GRCm39)	S830T	possibly damaging	Het
Gatad2a	T	G	8: 70,362,598 (GRCm39)	S581R	possibly damaging	Het
Gpcpd1	C	T	2: 132,381,818 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,226,158 (GRCm39)	L2505P	probably benign	Het
Igsf9b	A	G	9: 27,239,902 (GRCm39)	D649G	possibly damaging	Het
Impact	T	C	18: 13,107,815 (GRCm39)	C28R	probably benign	Het
Ino80d	G	T	1: 63,097,306 (GRCm39)	Q863K	probably damaging	Het
Iqsec1	A	C	6: 90,653,762 (GRCm39)	M675R	probably damaging	Het
Kcng3	C	T	17: 83,895,279 (GRCm39)	V396I	probably damaging	Het
Klhl18	A	T	9: 110,279,814 (GRCm39)	D60E	probably benign	Het
Krtap7-1	C	T	16: 89,305,156 (GRCm39)		probably benign	Het
Mal2	T	A	15: 54,461,941 (GRCm39)	Y145*	probably null	Het
Mcpt8	A	T	14: 56,319,864 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,758,393 (GRCm39)	D4810G	probably benign	Het
Med24	T	C	11: 98,598,368 (GRCm39)	I766V	probably benign	Het
Mga	G	A	2: 119,769,138 (GRCm39)	V1477M	probably damaging	Het
Mybph	T	A	1: 134,121,663 (GRCm39)	V112E	probably benign	Het
Nmur2	A	T	11: 55,931,337 (GRCm39)	S125T	probably damaging	Het
Or2w3	T	C	11: 58,556,691 (GRCm39)	V102A	probably benign	Het
Or6c212	A	G	10: 129,558,756 (GRCm39)	I219T	probably damaging	Het
Or8b44	A	T	9: 38,410,003 (GRCm39)	I13F	probably damaging	Het
Otop3	A	G	11: 115,231,795 (GRCm39)	N220S	probably damaging	Het
Pacsin1	T	G	17: 27,923,809 (GRCm39)		probably null	Het
Pcsk1	A	G	13: 75,241,286 (GRCm39)	R89G	possibly damaging	Het
Pde2a	A	T	7: 101,153,947 (GRCm39)	E509V	probably benign	Het
Pex1	T	C	5: 3,677,588 (GRCm39)		probably benign	Het
Ppp4r4	T	G	12: 103,547,753 (GRCm39)		probably benign	Het
Pygb	T	A	2: 150,655,403 (GRCm39)	N251K	probably benign	Het
Rsf1	C	T	7: 97,310,782 (GRCm39)	T504I	probably benign	Het
Slc5a11	A	T	7: 122,869,163 (GRCm39)	T584S	probably benign	Het
Smad2	G	A	18: 76,395,555 (GRCm39)		probably benign	Het
Srsf6	G	A	2: 162,775,674 (GRCm39)	R161H	probably damaging	Het
Tbx3	T	A	5: 119,820,708 (GRCm39)	S573T	probably benign	Het
Tecpr1	C	T	5: 144,153,737 (GRCm39)	R172Q	probably benign	Het
Ttn	T	A	2: 76,619,244 (GRCm39)		probably null	Het
Ubr2	T	C	17: 47,284,893 (GRCm39)	M542V	probably benign	Het
Unc80	T	C	1: 66,647,659 (GRCm39)		probably benign	Het
Vmn1r222	T	A	13: 23,416,315 (GRCm39)	K299N	probably benign	Het
Wwp1	A	T	4: 19,662,115 (GRCm39)		probably benign	Het
Zbtb46	T	A	2: 181,065,928 (GRCm39)	H74L	possibly damaging	Het
Zfp106	A	T	2: 120,354,524 (GRCm39)	L1416I	probably damaging	Het
Zfp106	A	G	2: 120,369,803 (GRCm39)	L73S	probably benign	Het
Zfp667	G	A	7: 6,308,336 (GRCm39)	G335R	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
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
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

Posted On

2014-05-07