Mutagenetix > Incidental Mutations

Incidental Mutation 'R1895:Fam20a'

209766

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

family with sequence similarity 20, member A

Synonyms

MMRRC Submission

039915-MU

Accession Numbers

Ncbi RefSeq: NM_153782.1; MGI:2388266

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109669749-109722279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109673554 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 458 (K458E)

Ref Sequence

ENSEMBL: ENSMUSP00000116687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020938] [ENSMUST00000049527] [ENSMUST00000106677] [ENSMUST00000155559]

AlphaFold

Q8CID3

Predicted Effect

probably benign
Transcript: ENSMUST00000020938
AA Change: K458E

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: K458E

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

probably benign
Transcript: ENSMUST00000049527

SMART Domains

Protein: ENSMUSP00000056500
Gene: ENSMUSG00000020612

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
RIIa	25	62	7.54e-15	SMART
cNMP	137	253	2.99e-32	SMART
cNMP	255	374	1.74e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106677

SMART Domains

Protein: ENSMUSP00000102288
Gene: ENSMUSG00000020612

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
RIIa	25	62	7.54e-15	SMART
cNMP	137	253	2.99e-32	SMART
cNMP	255	374	1.74e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146408

Predicted Effect

probably benign
Transcript: ENSMUST00000155559
AA Change: K458E

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: K458E

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

Meta Mutation Damage Score

0.3922

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.2%
20x: 86.6%

Validation Efficiency

96% (100/104)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,891,704	S253P	probably damaging	Het
Adgrb1	A	G	15: 74,540,465	D431G	probably damaging	Het
Adgrv1	C	T	13: 81,374,249	C5923Y	probably damaging	Het
Akr1b10	T	A	6: 34,388,870	I110N	probably damaging	Het
Apba2	T	C	7: 64,744,630		probably null	Het
Arhgef12	G	T	9: 43,005,856	Q396K	probably damaging	Het
Arpc1b	A	G	5: 145,122,633	T56A	probably null	Het
Atoh1	T	C	6: 64,729,459	V46A	probably benign	Het
AU015836	T	C	X: 93,969,379		probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Capn13	T	C	17: 73,350,525	E240G	possibly damaging	Het
Cdh8	T	C	8: 99,279,557	T133A	possibly damaging	Het
Cep295	T	C	9: 15,332,103	T1686A	possibly damaging	Het
Col4a3	A	T	1: 82,679,108	K749N	unknown	Het
Col6a3	T	A	1: 90,803,711	M1000L	probably benign	Het
Coq8b	G	A	7: 27,239,874	V150I	possibly damaging	Het
Dmxl1	G	T	18: 49,955,914		probably null	Het
Dnah10	A	G	5: 124,758,430	D990G	probably benign	Het
Dpp7	G	T	2: 25,353,679		probably null	Het
Eif3l	A	G	15: 79,089,477	N364S	possibly damaging	Het
Epb41l5	T	C	1: 119,549,172	D718G	possibly damaging	Het
F930017D23Rik	G	A	10: 43,593,444		noncoding transcript	Het
Fbxo44	C	G	4: 148,156,269	R220S	probably damaging	Het
Fut2	A	G	7: 45,651,324	F8S	probably damaging	Het
Gad2	A	T	2: 22,685,428	T515S	probably benign	Het
Glmn	T	C	5: 107,570,244	D269G	probably benign	Het
Gm13119	T	A	4: 144,361,865	V77E	probably benign	Het
Gpatch4	A	G	3: 88,052,102	Y106C	probably damaging	Het
Grm3	A	G	5: 9,512,123	W576R	probably damaging	Het
Hdac7	T	C	15: 97,796,886	D701G	probably damaging	Het
Hectd2	T	A	19: 36,614,460	I687K	probably damaging	Het
Hmcn2	T	C	2: 31,405,635	S2619P	probably damaging	Het
Ilf3	T	A	9: 21,404,767		probably benign	Het
Kdm4b	T	A	17: 56,397,340	V272E	probably damaging	Het
Kera	A	G	10: 97,609,147	K123E	probably benign	Het
Kif11	G	A	19: 37,387,399	R220K	probably damaging	Het
Kmt2c	A	T	5: 25,315,154	V1986E	probably benign	Het
Lrp11	T	C	10: 7,623,776	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,665,147	D320V	unknown	Het
Map4k5	A	T	12: 69,845,755	D133E	probably damaging	Het
Megf11	A	T	9: 64,679,276	D461V	probably damaging	Het
Muc5b	A	C	7: 141,857,645	T1443P	unknown	Het
Mxi1	G	A	19: 53,370,344	R236H	probably benign	Het
Nav1	A	T	1: 135,458,658	W1211R	probably damaging	Het
Ncoa3	T	A	2: 166,059,177	N896K	possibly damaging	Het
Nmt2	T	A	2: 3,322,635	I355N	probably benign	Het
Nxpe5	T	C	5: 138,251,523	V525A	probably damaging	Het
Oas1f	A	T	5: 120,855,585	T287S	probably benign	Het
Olfr1354	T	A	10: 78,916,924	I28N	probably damaging	Het
Olfr147	T	A	9: 38,402,886	M1K	probably null	Het
Olfr290	T	C	7: 84,916,279	S167P	probably benign	Het
Olfr353	A	T	2: 36,890,446	M134K	possibly damaging	Het
Olfr522	T	A	7: 140,162,813	I46F	possibly damaging	Het
Palm2	T	C	4: 57,638,068	V35A	probably benign	Het
Panx1	A	G	9: 15,007,526	C346R	probably benign	Het
Plekha7	T	C	7: 116,144,974	E764G	probably damaging	Het
Plet1	A	G	9: 50,504,352		probably null	Het
Plod2	A	G	9: 92,607,135	S707G	probably damaging	Het
Plscr4	G	A	9: 92,483,836	V120I	probably damaging	Het
Prob1	T	A	18: 35,652,889	T771S	possibly damaging	Het
Rasa3	A	G	8: 13,631,768		probably benign	Het
Ror2	T	C	13: 53,131,849	I110V	probably damaging	Het
Sec24d	A	T	3: 123,353,394	H667L	probably benign	Het
Sema3d	A	G	5: 12,573,843	Q573R	probably damaging	Het
Serpinb2	T	A	1: 107,524,607	V305D	probably damaging	Het
Slc11a2	G	A	15: 100,403,894	R249C	probably benign	Het
Slc14a1	T	C	18: 78,109,697	I276V	possibly damaging	Het
Snx19	T	A	9: 30,432,324	N593K	probably damaging	Het
Ssh2	C	G	11: 77,449,745	D574E	probably damaging	Het
Stil	T	C	4: 115,023,875	S539P	probably benign	Het
Syt4	T	C	18: 31,444,088	K71R	probably damaging	Het
Tenm4	A	T	7: 96,735,808	H524L	probably damaging	Het
Tex30	C	T	1: 44,091,404	G68D	probably damaging	Het
Tm4sf19	A	G	16: 32,407,682	Y138C	probably damaging	Het
Tmem43	A	T	6: 91,486,909	I389F	probably benign	Het
Trpm1	A	T	7: 64,223,808	N488Y	probably damaging	Het
Tshz1	A	T	18: 84,013,433	L950Q	probably damaging	Het
Vmn1r16	T	C	6: 57,322,900	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,088,645	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,245,378	E487K	probably damaging	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
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
R7231:Fam20a	UTSW	11	109721375	missense	possibly damaging	0.92
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

Predicted Primers

PCR Primer
(F):5'- TGACCCTTCGGCTATGACTC -3'
(R):5'- AGTCAGTCAGTCTCTGTCTGTC -3'

Sequencing Primer
(F):5'- GGCTATGACTCTTCGCTCG -3'
(R):5'- AGTCAGTCTCTGTCTGTCTGTCTG -3'

Posted On

2014-06-30