Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Fam20a'

562490

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

family with sequence similarity 20, member A

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_153782.1; MGI:2388266

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109669749-109722279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109721375 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 114 (D114G)

Ref Sequence

ENSEMBL: ENSMUSP00000020938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020938] [ENSMUST00000155559]

AlphaFold

Q8CID3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020938
AA Change: D114G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: D114G

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
low complexity region	50	61	N/A	INTRINSIC
Pfam:Fam20C	306	522	8.9e-101	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155559
AA Change: D114G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: D114G

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
low complexity region	50	61	N/A	INTRINSIC
Pfam:DUF1193	305	525	3.2e-103	PFAM

Coding Region Coverage

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

Validation Efficiency

98% (78/80)

MGI Phenotype

Strain: 5432376
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ameloblast morphology, disrupted dental enamel formation in both incisor and molar teeth, abnormal kidney morphology, disseminated calcifications of muscular arteries, and intrapulmonary calcifications. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,294,175	T2013S	probably benign	Het
Ablim3	A	G	18: 61,805,064		probably null	Het
Acvrl1	T	A	15: 101,136,223	C206*	probably null	Het
Adamts15	C	A	9: 30,906,158	R541S	probably damaging	Het
Add3	A	G	19: 53,233,146	I230V	probably benign	Het
Ankrd27	A	G	7: 35,628,446	D742G	possibly damaging	Het
Asxl3	A	T	18: 22,411,499		probably null	Het
Asxl3	A	G	18: 22,517,540	E862G	probably damaging	Het
Atp2b2	G	A	6: 113,765,732	T798M	possibly damaging	Het
Car12	T	C	9: 66,752,317	I208T	probably damaging	Het
Cgn	T	A	3: 94,773,192	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,632,645	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,222,546	V496A	probably benign	Het
Cplx4	C	A	18: 65,957,052	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,224,136	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,609,697	L193P	probably damaging	Het
Dennd5b	C	T	6: 149,044,604	R503Q	probably damaging	Het
Depdc5	C	A	5: 32,901,865	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,532,496	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,813,828	E3218V	probably benign	Het
Dnah9	T	C	11: 65,965,647	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,469,658	G557*	probably null	Het
Eps8l2	A	G	7: 141,360,392	N512D	probably damaging	Het
Fbln1	T	C	15: 85,206,152	S7P	unknown	Het
Fli1	T	C	9: 32,424,188	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Haus8	G	A	8: 71,253,137	T302I	probably benign	Het
Hmcn1	T	C	1: 150,638,876	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,748,417	Q161*	probably null	Het
Hsf4	C	T	8: 105,272,147	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,288,016	W164R		Het
Isl1	A	G	13: 116,303,290	V174A	probably benign	Het
Itih4	A	T	14: 30,896,614	I661F	probably benign	Het
Klhl14	A	T	18: 21,652,136	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,339,282	I177F	unknown	Het
Lingo3	T	A	10: 80,835,104	T331S	possibly damaging	Het
Lrrc36	T	C	8: 105,461,057	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,458,076	S497A	probably benign	Het
Mbip	A	G	12: 56,337,762		probably null	Het
Nelfa	C	T	5: 33,898,825	G498D	probably damaging	Het
Nlrc5	T	A	8: 94,521,805		probably null	Het
Olfr1312	A	T	2: 112,042,366	V222D	probably damaging	Het
Olfr679	T	C	7: 105,085,787	S24P	possibly damaging	Het
Olfr701	A	T	7: 106,818,443	Y120F	probably damaging	Het
Olfr863-ps1	T	A	9: 19,941,559	T294S	unknown	Het
Pde2a	A	G	7: 101,505,953	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,800,957	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,816,188	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,797,658	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,684,060	Y572N	probably benign	Het
Prkcq	T	A	2: 11,290,451	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062	D226V	probably damaging	Het
Rab1b	A	G	19: 5,105,201	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,604,191	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,891	S35R	probably benign	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Samd15	T	A	12: 87,201,044	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,547,946	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,251,790	H141Q	probably benign	Het
Slc9a3r2	C	T	17: 24,650,104	R16H	probably damaging	Het
Snx21	T	C	2: 164,786,201	S46P	probably benign	Het
Strip2	A	G	6: 29,944,487	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,800,809	P392L	probably damaging	Het
Suclg1	G	A	6: 73,263,971	R161H	probably benign	Het
Tas1r3	T	C	4: 155,862,826	Y134C	probably damaging	Het
Tgif1	T	A	17: 70,846,173	Q114L	probably damaging	Het
Tll2	A	G	19: 41,086,234	F964L	probably benign	Het
Tmem181a	T	C	17: 6,297,920	S247P	possibly damaging	Het
Trav23	A	T	14: 53,977,568	R79S	probably damaging	Het
Trf	C	A	9: 103,225,148	C177F	probably damaging	Het
Triml1	T	C	8: 43,136,371	Y260C	probably benign	Het
Tulp4	T	C	17: 6,236,235	F1513L	probably benign	Het
Umodl1	G	A	17: 30,986,116	V562I	probably damaging	Het
Ush2a	A	G	1: 188,759,763	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,846,961	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,097,638	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 10,053,083	N32K	probably benign	Het
Vps13d	A	G	4: 145,057,462	V3914A		Het
Vwa5b2	A	G	16: 20,604,128	T984A	probably benign	Het
Zc3h3	C	T	15: 75,840,382	V77M	probably damaging	Het
Zfp397	A	T	18: 23,960,358	H300L	probably damaging	Het
Zfp950	G	A	19: 61,119,212	R478C	probably benign	Het

Other mutations in Fam20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Fam20a	APN	11	109677762	splice site	probably benign
IGL01296:Fam20a	APN	11	109685351	missense	possibly damaging	0.93
IGL01319:Fam20a	APN	11	109678458	splice site	probably benign
IGL01322:Fam20a	APN	11	109682912	missense	probably damaging	1.00
IGL02086:Fam20a	APN	11	109673413	missense	probably benign	0.00
IGL02563:Fam20a	APN	11	109677794	missense	possibly damaging	0.53
IGL02883:Fam20a	APN	11	109675127	missense	probably damaging	0.99
IGL02893:Fam20a	APN	11	109721588	missense	probably benign	0.00
Infamy	UTSW	11	109673342	missense	possibly damaging	0.87
snide	UTSW	11	109721375	missense	possibly damaging	0.92
ungainly	UTSW	11	109682870	nonsense	probably null
P0026:Fam20a	UTSW	11	109675841	critical splice donor site	probably null
R0726:Fam20a	UTSW	11	109677194	missense	probably damaging	1.00
R1317:Fam20a	UTSW	11	109677838	missense	probably damaging	0.99
R1462:Fam20a	UTSW	11	109677317	missense	probably damaging	1.00
R1462:Fam20a	UTSW	11	109677317	missense	probably damaging	1.00
R1751:Fam20a	UTSW	11	109677838	missense	probably damaging	0.99
R1761:Fam20a	UTSW	11	109677838	missense	probably damaging	0.99
R1889:Fam20a	UTSW	11	109673554	missense	probably benign	0.30
R1895:Fam20a	UTSW	11	109673554	missense	probably benign	0.30
R1971:Fam20a	UTSW	11	109685411	missense	probably damaging	1.00
R2192:Fam20a	UTSW	11	109674623	missense	probably benign	0.13
R3745:Fam20a	UTSW	11	109677790	missense	probably benign	0.17
R4684:Fam20a	UTSW	11	109721687	missense	unknown
R4835:Fam20a	UTSW	11	109673563	missense	probably benign	0.40
R5045:Fam20a	UTSW	11	109677885	missense	probably benign	0.38
R5161:Fam20a	UTSW	11	109673370	missense	probably benign	0.00
R5715:Fam20a	UTSW	11	109678431	missense	probably damaging	1.00
R5817:Fam20a	UTSW	11	109673418	missense	possibly damaging	0.81
R5960:Fam20a	UTSW	11	109675969	intron	probably benign
R6162:Fam20a	UTSW	11	109682870	nonsense	probably null
R6312:Fam20a	UTSW	11	109674630	missense	probably damaging	1.00
R7311:Fam20a	UTSW	11	109674628	nonsense	probably null
R7366:Fam20a	UTSW	11	109673342	missense	possibly damaging	0.87
R8013:Fam20a	UTSW	11	109685506	missense	possibly damaging	0.92
R8014:Fam20a	UTSW	11	109685506	missense	possibly damaging	0.92
R9086:Fam20a	UTSW	11	109675928	nonsense	probably null
R9751:Fam20a	UTSW	11	109675166	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGTGAAGTTCCCACAGCC -3'
(R):5'- GAGCTAATCCCCTGTGTGAG -3'

Sequencing Primer
(F):5'- AAGTTCCCACAGCCCAGGG -3'
(R):5'- TGTGTGAGCATTCCAGCC -3'

Posted On

2019-06-26