Mutagenetix > Incidental Mutation

Incidental Mutation 'R9347:Fam20c'

707843

Institutional Source

Beutler Lab

Gene Symbol

Fam20c

Ensembl Gene

ENSMUSG00000025854

Gene Name

FAM20C, golgi associated secretory pathway kinase

Synonyms

DMP4

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138740836-138795818 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 138743676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 237 (H237Q)

Ref Sequence

ENSEMBL: ENSMUSP00000026972 (fasta)

Gene Model

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

AlphaFold

Q5MJS3

Predicted Effect

probably benign
Transcript: ENSMUST00000026972
AA Change: H237Q

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026972
Gene: ENSMUSG00000025854
AA Change: H237Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,483,479 (GRCm39)	M1659K	probably benign	Het
Ace	C	A	11: 105,864,958 (GRCm39)	Q544K	probably damaging	Het
Agpat4	A	G	17: 12,429,168 (GRCm39)	E140G	possibly damaging	Het
Akap12	A	G	10: 4,303,640 (GRCm39)	D150G	probably benign	Het
Akap6	A	G	12: 53,115,894 (GRCm39)	Y999C	probably damaging	Het
Ank1	A	G	8: 23,607,076 (GRCm39)	I1326V	possibly damaging	Het
Apold1	T	A	6: 134,960,999 (GRCm39)	L151Q	probably damaging	Het
Bmal1	A	G	7: 112,898,487 (GRCm39)	D305G	possibly damaging	Het
Brsk2	A	G	7: 141,552,133 (GRCm39)	S564G	probably damaging	Het
Ceacam18	T	C	7: 43,294,915 (GRCm39)	V325A	possibly damaging	Het
Clstn2	T	C	9: 97,464,654 (GRCm39)	Y167C	probably damaging	Het
Cyp11a1	G	T	9: 57,928,141 (GRCm39)	V324L	possibly damaging	Het
Ddx27	A	G	2: 166,861,950 (GRCm39)	T151A	possibly damaging	Het
Dhrs4	A	G	14: 55,727,306 (GRCm39)	I252M	possibly damaging	Het
Dlg2	A	G	7: 91,360,900 (GRCm39)	D6G	probably benign	Het
Dnah8	G	A	17: 30,927,333 (GRCm39)	E1330K	probably benign	Het
Ehd3	A	G	17: 74,137,391 (GRCm39)	E520G	probably benign	Het
Epha5	A	G	5: 84,479,731 (GRCm39)	V91A	possibly damaging	Het
Fam217a	C	T	13: 35,094,662 (GRCm39)	G366S	probably damaging	Het
Fancf	T	C	7: 51,511,359 (GRCm39)	E215G	probably benign	Het
Fermt3	A	T	19: 6,980,664 (GRCm39)	I301N	probably damaging	Het
Fyco1	A	T	9: 123,660,350 (GRCm39)		probably null	Het
Gen1	T	C	12: 11,311,068 (GRCm39)	N55D	probably damaging	Het
Gm20604	A	T	12: 102,709,636 (GRCm39)	C75S	unknown	Het
Gm3045	T	A	13: 56,578,160 (GRCm39)	V199D	unknown	Het
Gm49368	A	G	7: 127,712,178 (GRCm39)	T805A	possibly damaging	Het
Hgf	T	C	5: 16,809,921 (GRCm39)		probably null	Het
Hnrnpul2	T	A	19: 8,798,080 (GRCm39)	H145Q	probably benign	Het
Ift140	A	G	17: 25,313,753 (GRCm39)	M1395V	probably benign	Het
Il17rc	T	G	6: 113,457,780 (GRCm39)		probably null	Het
Kansl1l	T	A	1: 66,840,347 (GRCm39)	T318S	probably benign	Het
Kcnc1	A	T	7: 46,077,034 (GRCm39)	N279Y	probably damaging	Het
Khdrbs2	T	A	1: 32,511,828 (GRCm39)	H264Q	probably benign	Het
Klf12	A	G	14: 100,260,144 (GRCm39)	V195A	possibly damaging	Het
Lhfpl2	A	G	13: 94,328,539 (GRCm39)	E200G	probably damaging	Het
Lmna	T	C	3: 88,393,548 (GRCm39)	D300G	probably damaging	Het
Lrif1	A	G	3: 106,641,674 (GRCm39)	T17A	possibly damaging	Het
Mdm1	A	G	10: 117,982,523 (GRCm39)	I53V	probably damaging	Het
Mga	T	A	2: 119,733,518 (GRCm39)	I122N	probably damaging	Het
Mos	A	G	4: 3,871,763 (GRCm39)	S18P	probably benign	Het
Mterf3	C	T	13: 67,062,852 (GRCm39)	V295I	possibly damaging	Het
Muc16	G	A	9: 18,571,511 (GRCm39)	T336I	unknown	Het
Myo15a	T	C	11: 60,374,555 (GRCm39)	S136P		Het
Nav3	T	A	10: 109,738,955 (GRCm39)	I128F	probably damaging	Het
Nphs1	A	G	7: 30,170,594 (GRCm39)	D928G	probably damaging	Het
Or52z15	A	G	7: 103,332,464 (GRCm39)	I180V	probably damaging	Het
Or5b114-ps1	A	T	19: 13,352,553 (GRCm39)	T76S	possibly damaging	Het
Or5m13b	T	A	2: 85,753,819 (GRCm39)	V69E	probably damaging	Het
Or5p70	A	G	7: 107,995,259 (GRCm39)	K311E	probably benign	Het
Or8u10	T	C	2: 85,915,911 (GRCm39)	D70G	possibly damaging	Het
Parvb	T	C	15: 84,155,523 (GRCm39)		probably null	Het
Patj	A	C	4: 98,576,484 (GRCm39)	E574A	probably benign	Het
Ppp2r1a	A	G	17: 21,181,877 (GRCm39)	N465S	probably benign	Het
Pramel34	T	A	5: 93,786,697 (GRCm39)	E24V	probably damaging	Het
Senp6	A	G	9: 80,046,379 (GRCm39)	K950E	possibly damaging	Het
Septin12	T	C	16: 4,805,481 (GRCm39)	H304R	probably damaging	Het
Septin3	T	C	15: 82,167,914 (GRCm39)	V110A	probably damaging	Het
Slc25a35	G	T	11: 68,862,076 (GRCm39)	V170L	probably benign	Het
Slco3a1	A	T	7: 73,934,153 (GRCm39)	L673Q	possibly damaging	Het
Smim35	A	G	9: 45,154,271 (GRCm39)	N44S	possibly damaging	Het
Tcp1	A	G	17: 13,136,687 (GRCm39)	M23V	probably benign	Het
Thg1l	T	C	11: 45,845,288 (GRCm39)		probably benign	Het
Tiam2	G	A	17: 3,471,923 (GRCm39)	E522K	probably benign	Het
Tie1	G	A	4: 118,341,867 (GRCm39)	T194I	possibly damaging	Het
Vmn2r49	T	A	7: 9,718,674 (GRCm39)	E463D	probably benign	Het
Wdr1	C	A	5: 38,697,355 (GRCm39)		probably null	Het
Zbtb38	A	T	9: 96,567,649 (GRCm39)	M1145K	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
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

Predicted Primers

PCR Primer
(F):5'- CAGCACCCCGTATTCTTTGG -3'
(R):5'- GCATCCATTTGGCTCATGG -3'

Sequencing Primer
(F):5'- ACCCCGTATTCTTTGGCCTCTTG -3'
(R):5'- CCATTTGGCTCATGGAATCATCAGG -3'

Posted On

2022-04-18