Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01393:Fam20c'

79280

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam20c

Ensembl Gene

ENSMUSG00000025854

Gene Name

family with sequence similarity 20, member C

Synonyms

DMP4

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.356) question?

Stock #

IGL01393

Quality Score

Status

Chromosome

Chromosomal Location

138754514-138810077 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138807271 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 420 (Y420C)

Ref Sequence

ENSEMBL: ENSMUSP00000026972 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026972] [ENSMUST00000160645]

Predicted Effect

probably damaging
Transcript: ENSMUST00000026972
AA Change: Y420C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026972
Gene: ENSMUSG00000025854
AA Change: Y420C

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	A	14: 36,096,422	V126I	possibly damaging	Het
A630073D07Rik	G	T	6: 132,626,614	Q60K	unknown	Het
Alpk2	A	G	18: 65,307,708	S205P	possibly damaging	Het
Ang4	T	A	14: 51,764,213	I93L	probably benign	Het
Arpin	A	G	7: 79,931,840	V44A	possibly damaging	Het
Atxn3	A	T	12: 101,933,047	C263*	probably null	Het
C530008M17Rik	T	C	5: 76,858,971	S1060P	unknown	Het
Cd209f	T	C	8: 4,103,154	N260S	probably damaging	Het
Cdh20	A	G	1: 104,934,244	R50G	probably benign	Het
Csmd3	C	T	15: 48,457,599	V272I	possibly damaging	Het
Dst	A	T	1: 34,167,625	Y1136F	possibly damaging	Het
Fancd2	T	A	6: 113,577,360		probably benign	Het
Fat2	T	C	11: 55,269,309	D3326G	probably benign	Het
Filip1l	A	G	16: 57,572,223	N820S	probably damaging	Het
Gm26566	G	A	4: 88,722,344		probably benign	Het
Gm4792	A	G	10: 94,298,442	L22P	unknown	Het
Gpat2	A	G	2: 127,432,651	E386G	probably damaging	Het
Grm3	T	C	5: 9,589,856	D63G	probably benign	Het
Hdc	A	G	2: 126,594,661	V430A	probably benign	Het
Hnf4a	T	C	2: 163,551,572		probably benign	Het
Il2ra	A	G	2: 11,683,054	D215G	probably damaging	Het
Kctd3	T	C	1: 189,000,290	I74V	probably benign	Het
Kctd5	A	T	17: 24,059,318		probably null	Het
Lrsam1	A	T	2: 32,955,173		probably benign	Het
Mblac1	A	G	5: 138,194,774	N126S	possibly damaging	Het
Mmrn1	T	A	6: 60,960,708		probably benign	Het
Mpp3	A	T	11: 102,025,478	L16Q	probably damaging	Het
Mrgprb1	C	A	7: 48,448,006	A53S	possibly damaging	Het
Nbea	C	A	3: 56,005,308	M1019I	probably benign	Het
Nlrp5	A	G	7: 23,404,174	K22R	probably null	Het
Olfr1298	A	G	2: 111,645,256	V247A	probably damaging	Het
Olfr350	G	A	2: 36,850,541	R165Q	probably benign	Het
Olfr700	C	T	7: 106,806,435	G9E	probably benign	Het
Pard6b	T	A	2: 168,087,378	S35T	probably benign	Het
Peli1	T	C	11: 21,147,400	V215A	probably benign	Het
Pkp4	A	T	2: 59,347,925	D1003V	probably damaging	Het
Pot1a	G	A	6: 25,744,631	R625*	probably null	Het
Ppp1r16a	T	C	15: 76,694,544	S483P	probably benign	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Prrg3	T	C	X: 71,967,517	V210A	probably benign	Het
Rev1	A	G	1: 38,092,063	V168A	probably damaging	Het
Sez6l	G	T	5: 112,438,395		probably benign	Het
Spag17	A	G	3: 100,027,610	T711A	possibly damaging	Het
Spice1	A	G	16: 44,366,630	I163M	probably benign	Het
Tex13c1	C	T	X: 43,591,356	A66V	probably damaging	Het
Tmem132d	A	T	5: 127,784,638	S806R	probably benign	Het
Tnc	A	G	4: 64,014,054		probably benign	Het
Tpbg	T	A	9: 85,844,092	V38E	unknown	Het
Unc13c	T	A	9: 73,540,270	I1883F	probably benign	Het
Vmn2r61	A	C	7: 42,266,834	Q290H	probably benign	Het
Vps39	A	G	2: 120,350,238		probably benign	Het
Zfp369	T	C	13: 65,294,474	V294A	possibly damaging	Het
Zfp821	T	A	8: 109,709,478		probably benign	Het
Zfp941	C	T	7: 140,811,928	G506E	probably damaging	Het

Other mutations in Fam20c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Fam20c	APN	5	138809157	missense	probably benign
IGL01096:Fam20c	APN	5	138809155	missense	possibly damaging	0.93
IGL01576:Fam20c	APN	5	138807339	missense	probably damaging	0.98
IGL01960:Fam20c	APN	5	138806320	missense	probably damaging	0.99
IGL02317:Fam20c	APN	5	138806360	missense	probably damaging	1.00
IGL02979:Fam20c	APN	5	138757865	missense	probably damaging	1.00
IGL02988:Fam20c	UTSW	5	138755994	missense	probably benign	0.20
R0197:Fam20c	UTSW	5	138755724	missense	probably damaging	1.00
R0594:Fam20c	UTSW	5	138766637	missense	possibly damaging	0.94
R0615:Fam20c	UTSW	5	138807486	missense	probably damaging	0.99
R1672:Fam20c	UTSW	5	138807301	missense	probably damaging	1.00
R2044:Fam20c	UTSW	5	138756227	critical splice donor site	probably null
R2484:Fam20c	UTSW	5	138809117	missense	probably benign
R3418:Fam20c	UTSW	5	138757868	missense	probably damaging	0.99
R3419:Fam20c	UTSW	5	138757868	missense	probably damaging	0.99
R4205:Fam20c	UTSW	5	138755676	missense	probably damaging	1.00
R5966:Fam20c	UTSW	5	138756177	missense	probably damaging	1.00
R6346:Fam20c	UTSW	5	138766695	missense	probably damaging	1.00
R7290:Fam20c	UTSW	5	138807554	missense	probably damaging	1.00
R7559:Fam20c	UTSW	5	138793199	missense	possibly damaging	0.91
R8321:Fam20c	UTSW	5	138757931	missense	possibly damaging	0.71

Posted On

2013-11-05