Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01393:Fam20c'

79280

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 #

IGL01393

Quality Score

Status

Chromosome

Chromosomal Location

138740836-138795818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138793026 bp (GRCm39)

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]

AlphaFold

Q5MJS3

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: 35,818,379 (GRCm39)	V126I	possibly damaging	Het
A630073D07Rik	G	T	6: 132,603,577 (GRCm39)	Q60K	unknown	Het
Alpk2	A	G	18: 65,440,779 (GRCm39)	S205P	possibly damaging	Het
Ang4	T	A	14: 52,001,670 (GRCm39)	I93L	probably benign	Het
Arpin	A	G	7: 79,581,588 (GRCm39)	V44A	possibly damaging	Het
Atxn3	A	T	12: 101,899,306 (GRCm39)	C263*	probably null	Het
Cd209f	T	C	8: 4,153,154 (GRCm39)	N260S	probably damaging	Het
Cdh20	A	G	1: 104,861,969 (GRCm39)	R50G	probably benign	Het
Cracd	T	C	5: 77,006,818 (GRCm39)	S1060P	unknown	Het
Csmd3	C	T	15: 48,320,995 (GRCm39)	V272I	possibly damaging	Het
Dst	A	T	1: 34,206,706 (GRCm39)	Y1136F	possibly damaging	Het
Fancd2	T	A	6: 113,554,321 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,160,135 (GRCm39)	D3326G	probably benign	Het
Filip1l	A	G	16: 57,392,586 (GRCm39)	N820S	probably damaging	Het
Gm26566	G	A	4: 88,640,581 (GRCm39)		probably benign	Het
Gm4792	A	G	10: 94,134,304 (GRCm39)	L22P	unknown	Het
Gpat2	A	G	2: 127,274,571 (GRCm39)	E386G	probably damaging	Het
Grm3	T	C	5: 9,639,856 (GRCm39)	D63G	probably benign	Het
Hdc	A	G	2: 126,436,581 (GRCm39)	V430A	probably benign	Het
Hnf4a	T	C	2: 163,393,492 (GRCm39)		probably benign	Het
Il2ra	A	G	2: 11,687,865 (GRCm39)	D215G	probably damaging	Het
Kctd3	T	C	1: 188,732,487 (GRCm39)	I74V	probably benign	Het
Kctd5	A	T	17: 24,278,292 (GRCm39)		probably null	Het
Lrsam1	A	T	2: 32,845,185 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,193,036 (GRCm39)	N126S	possibly damaging	Het
Mmrn1	T	A	6: 60,937,692 (GRCm39)		probably benign	Het
Mpp3	A	T	11: 101,916,304 (GRCm39)	L16Q	probably damaging	Het
Mrgprb1	C	A	7: 48,097,754 (GRCm39)	A53S	possibly damaging	Het
Nbea	C	A	3: 55,912,729 (GRCm39)	M1019I	probably benign	Het
Nlrp5	A	G	7: 23,103,599 (GRCm39)	K22R	probably null	Het
Or1j4	G	A	2: 36,740,553 (GRCm39)	R165Q	probably benign	Het
Or2ag18	C	T	7: 106,405,642 (GRCm39)	G9E	probably benign	Het
Or4k48	A	G	2: 111,475,601 (GRCm39)	V247A	probably damaging	Het
Pard6b	T	A	2: 167,929,298 (GRCm39)	S35T	probably benign	Het
Peli1	T	C	11: 21,097,400 (GRCm39)	V215A	probably benign	Het
Pkp4	A	T	2: 59,178,269 (GRCm39)	D1003V	probably damaging	Het
Pot1a	G	A	6: 25,744,630 (GRCm39)	R625*	probably null	Het
Ppp1r16a	T	C	15: 76,578,744 (GRCm39)	S483P	probably benign	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Prrg3	T	C	X: 71,011,123 (GRCm39)	V210A	probably benign	Het
Rev1	A	G	1: 38,131,144 (GRCm39)	V168A	probably damaging	Het
Sez6l	G	T	5: 112,586,261 (GRCm39)		probably benign	Het
Spag17	A	G	3: 99,934,926 (GRCm39)	T711A	possibly damaging	Het
Spice1	A	G	16: 44,186,993 (GRCm39)	I163M	probably benign	Het
Tex13c1	C	T	X: 42,680,233 (GRCm39)	A66V	probably damaging	Het
Tmem132d	A	T	5: 127,861,702 (GRCm39)	S806R	probably benign	Het
Tnc	A	G	4: 63,932,291 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,145 (GRCm39)	V38E	unknown	Het
Unc13c	T	A	9: 73,447,552 (GRCm39)	I1883F	probably benign	Het
Vmn2r61	A	C	7: 41,916,258 (GRCm39)	Q290H	probably benign	Het
Vps39	A	G	2: 120,180,719 (GRCm39)		probably benign	Het
Zfp369	T	C	13: 65,442,288 (GRCm39)	V294A	possibly damaging	Het
Zfp821	T	A	8: 110,436,110 (GRCm39)		probably benign	Het
Zfp941	C	T	7: 140,391,841 (GRCm39)	G506E	probably damaging	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
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
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

2013-11-05