Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02988:Fam20c'

453486

Institutional Source

Beutler Lab

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: 0.401) question?

Stock #

IGL02988 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

138740836-138795818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138741749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 120 (E120V)

Ref Sequence

ENSEMBL: ENSMUSP00000124584 (fasta)

Gene Model

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

AlphaFold

Q5MJS3

Predicted Effect

probably benign
Transcript: ENSMUST00000026972
AA Change: E120V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026972
Gene: ENSMUSG00000025854
AA Change: E120V

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
AA Change: E120V

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124584
Gene: ENSMUSG00000025854
AA Change: E120V

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

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933416I08Rik	TCC	TCCC	X: 52,692,862 (GRCm39)		noncoding transcript	Het
Aadacl4fm5	T	A	4: 144,513,100 (GRCm39)		probably benign	Het
Adgrd1	G	A	5: 129,221,074 (GRCm39)	A488T	probably benign	Het
Ano3	T	C	2: 110,605,355 (GRCm39)	S284G	probably damaging	Het
Aox1	G	T	1: 58,376,509 (GRCm39)	V897L	probably benign	Het
Arl6	T	A	16: 59,434,209 (GRCm39)		probably null	Het
Blnk	G	A	19: 40,917,660 (GRCm39)	T441M	probably damaging	Het
Casp8ap2	C	T	4: 32,644,590 (GRCm39)	T1221I	probably benign	Het
Cbll1	A	T	12: 31,542,171 (GRCm39)	F63L	possibly damaging	Het
Cdk14	A	G	5: 5,086,484 (GRCm39)	Y279H	probably damaging	Het
Cflar	A	T	1: 58,780,190 (GRCm39)	I265F	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Cyp3a13	A	T	5: 137,897,272 (GRCm39)	Y347*	probably null	Het
Defa27	T	C	8: 21,805,583 (GRCm39)	S8P	probably damaging	Het
Depdc5	A	C	5: 33,113,511 (GRCm39)		probably null	Het
Dlg5	A	G	14: 24,216,323 (GRCm39)	F573S	probably damaging	Het
Fam53a	T	C	5: 33,764,819 (GRCm39)	K296E	probably damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,972,355 (GRCm39)	T1526A	possibly damaging	Het
Gm14325	A	C	2: 177,476,042 (GRCm39)		probably null	Het
Gm7582	G	A	1: 85,019,588 (GRCm39)		noncoding transcript	Het
Golga7b	A	C	19: 42,255,239 (GRCm39)	Y63S	probably damaging	Het
Hexb	A	G	13: 97,334,729 (GRCm39)	L14P	unknown	Het
Hsd17b3	A	C	13: 64,236,914 (GRCm39)	L10R	probably damaging	Het
Il6st	T	C	13: 112,635,420 (GRCm39)	F611L	probably damaging	Het
Ints13	T	A	6: 146,457,646 (GRCm39)	T411S	possibly damaging	Het
Kif18b	C	A	11: 102,799,146 (GRCm39)	C685F	probably damaging	Het
Kif5c	A	G	2: 49,509,729 (GRCm39)	N19S	probably damaging	Het
Lmbr1	G	T	5: 29,497,221 (GRCm39)		probably null	Het
Minar1	A	G	9: 89,484,792 (GRCm39)	S202P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,216,397 (GRCm39)	R62Q	probably benign	Het
Myo1g	T	C	11: 6,458,183 (GRCm39)		probably benign	Het
Myo5a	A	T	9: 75,037,423 (GRCm39)		probably benign	Het
Nobox	G	A	6: 43,282,095 (GRCm39)	S326L	possibly damaging	Het
Nsl1	C	A	1: 190,795,300 (GRCm39)	S22*	probably null	Het
Or5b3	A	C	19: 13,388,826 (GRCm39)	K298Q	possibly damaging	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Pdia3	T	A	2: 121,260,037 (GRCm39)	L192Q	probably damaging	Het
Pkd2	A	T	5: 104,651,471 (GRCm39)	R940*	probably null	Het
Plcd3	T	A	11: 102,967,568 (GRCm39)	Q458L	probably benign	Het
Polm	T	A	11: 5,786,343 (GRCm39)	T75S	probably benign	Het
Pon3	T	A	6: 5,232,330 (GRCm39)	D230V	possibly damaging	Het
Pxdn	A	T	12: 30,053,113 (GRCm39)	K917*	probably null	Het
Rad54l2	A	G	9: 106,577,784 (GRCm39)	S1046P	probably benign	Het
Rb1cc1	T	C	1: 6,318,035 (GRCm39)		probably null	Het
Rnf215	A	G	11: 4,086,785 (GRCm39)	E194G	probably damaging	Het
Rorb	A	T	19: 18,915,336 (GRCm39)	F441I	probably damaging	Het
Sel1l2	C	A	2: 140,090,508 (GRCm39)	G378V	probably damaging	Het
Sema6a	G	T	18: 47,431,281 (GRCm39)	A139D	probably damaging	Het
Serpinb3d	A	T	1: 107,006,266 (GRCm39)	M274K	probably benign	Het
Siglec15	A	C	18: 78,092,462 (GRCm39)	L32R	probably damaging	Het
Siglecg	A	T	7: 43,067,476 (GRCm39)	D681V	probably damaging	Het
Slc6a13	G	T	6: 121,303,066 (GRCm39)		probably benign	Het
Slc9b2	G	T	3: 135,024,179 (GRCm39)	A77S	probably benign	Het
Slit3	T	A	11: 35,598,890 (GRCm39)	V1498D	probably damaging	Het
Snorc	A	G	1: 87,402,926 (GRCm39)		probably null	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Stxbp2	T	C	8: 3,683,267 (GRCm39)		probably benign	Het
Tbc1d9b	T	C	11: 50,042,773 (GRCm39)	S482P	possibly damaging	Het
Tec	A	G	5: 72,926,090 (GRCm39)	S321P	possibly damaging	Het
Tenm3	A	G	8: 48,688,381 (GRCm39)	M2402T	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tm4sf1	A	T	3: 57,200,537 (GRCm39)		probably null	Het
Tmcc1	T	C	6: 116,019,889 (GRCm39)	E306G	probably damaging	Het
Traf3ip3	A	T	1: 192,877,182 (GRCm39)		probably null	Het
Utf1	C	T	7: 139,523,875 (GRCm39)	P30L	possibly damaging	Het
Wdfy3	A	T	5: 102,077,847 (GRCm39)	C880S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTTGACCTGCTACCCAAG -3'
(R):5'- TTCACATTAAACAGGACGTCGTC -3'

Sequencing Primer
(F):5'- TACCCAAGCTGGACCGACG -3'
(R):5'- ACGTCGTCCTCTGTCAGAG -3'

Posted On

2017-02-08