Mutagenetix > Incidental Mutation

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

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 (GRCm38)	S253P	probably damaging	Het
Adgrb1	A	G	15: 74,540,465 (GRCm38)	D431G	probably damaging	Het
Adgrv1	C	T	13: 81,374,249 (GRCm38)	C5923Y	probably damaging	Het
Akr1b10	T	A	6: 34,388,870 (GRCm38)	I110N	probably damaging	Het
Apba2	T	C	7: 64,744,630 (GRCm38)		probably null	Het
Arhgef12	G	T	9: 43,005,856 (GRCm38)	Q396K	probably damaging	Het
Arpc1b	A	G	5: 145,122,633 (GRCm38)	T56A	probably null	Het
Atoh1	T	C	6: 64,729,459 (GRCm38)	V46A	probably benign	Het
AU015836	T	C	X: 93,969,379 (GRCm38)		probably benign	Het
Cacna1c	C	T	6: 118,612,625 (GRCm38)	R1446H	probably damaging	Het
Capn13	T	C	17: 73,350,525 (GRCm38)	E240G	possibly damaging	Het
Cdh8	T	C	8: 99,279,557 (GRCm38)	T133A	possibly damaging	Het
Cep295	T	C	9: 15,332,103 (GRCm38)	T1686A	possibly damaging	Het
Col4a3	A	T	1: 82,679,108 (GRCm38)	K749N	unknown	Het
Col6a3	T	A	1: 90,803,711 (GRCm38)	M1000L	probably benign	Het
Coq8b	G	A	7: 27,239,874 (GRCm38)	V150I	possibly damaging	Het
Dmxl1	G	T	18: 49,955,914 (GRCm38)		probably null	Het
Dnah10	A	G	5: 124,758,430 (GRCm38)	D990G	probably benign	Het
Dpp7	G	T	2: 25,353,679 (GRCm38)		probably null	Het
Eif3l	A	G	15: 79,089,477 (GRCm38)	N364S	possibly damaging	Het
Epb41l5	T	C	1: 119,549,172 (GRCm38)	D718G	possibly damaging	Het
F930017D23Rik	G	A	10: 43,593,444 (GRCm38)		noncoding transcript	Het
Fbxo44	C	G	4: 148,156,269 (GRCm38)	R220S	probably damaging	Het
Fut2	A	G	7: 45,651,324 (GRCm38)	F8S	probably damaging	Het
Gad2	A	T	2: 22,685,428 (GRCm38)	T515S	probably benign	Het
Glmn	T	C	5: 107,570,244 (GRCm38)	D269G	probably benign	Het
Gpatch4	A	G	3: 88,052,102 (GRCm38)	Y106C	probably damaging	Het
Grm3	A	G	5: 9,512,123 (GRCm38)	W576R	probably damaging	Het
Hdac7	T	C	15: 97,796,886 (GRCm38)	D701G	probably damaging	Het
Hectd2	T	A	19: 36,614,460 (GRCm38)	I687K	probably damaging	Het
Hmcn2	T	C	2: 31,405,635 (GRCm38)	S2619P	probably damaging	Het
Ilf3	T	A	9: 21,404,767 (GRCm38)		probably benign	Het
Kdm4b	T	A	17: 56,397,340 (GRCm38)	V272E	probably damaging	Het
Kera	A	G	10: 97,609,147 (GRCm38)	K123E	probably benign	Het
Kif11	G	A	19: 37,387,399 (GRCm38)	R220K	probably damaging	Het
Kmt2c	A	T	5: 25,315,154 (GRCm38)	V1986E	probably benign	Het
Lrp11	T	C	10: 7,623,776 (GRCm38)	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,665,147 (GRCm38)	D320V	unknown	Het
Map4k5	A	T	12: 69,845,755 (GRCm38)	D133E	probably damaging	Het
Megf11	A	T	9: 64,679,276 (GRCm38)	D461V	probably damaging	Het
Muc5b	A	C	7: 141,857,645 (GRCm38)	T1443P	unknown	Het
Mxi1	G	A	19: 53,370,344 (GRCm38)	R236H	probably benign	Het
Nav1	A	T	1: 135,458,658 (GRCm38)	W1211R	probably damaging	Het
Ncoa3	T	A	2: 166,059,177 (GRCm38)	N896K	possibly damaging	Het
Nmt2	T	A	2: 3,322,635 (GRCm38)	I355N	probably benign	Het
Nxpe5	T	C	5: 138,251,523 (GRCm38)	V525A	probably damaging	Het
Oas1f	A	T	5: 120,855,585 (GRCm38)	T287S	probably benign	Het
Or1n1b	A	T	2: 36,890,446 (GRCm38)	M134K	possibly damaging	Het
Or5ae1	T	C	7: 84,916,279 (GRCm38)	S167P	probably benign	Het
Or6ae1	T	A	7: 140,162,813 (GRCm38)	I46F	possibly damaging	Het
Or7a38	T	A	10: 78,916,924 (GRCm38)	I28N	probably damaging	Het
Or8b3	T	A	9: 38,402,886 (GRCm38)	M1K	probably null	Het
Palm2	T	C	4: 57,638,068 (GRCm38)	V35A	probably benign	Het
Panx1	A	G	9: 15,007,526 (GRCm38)	C346R	probably benign	Het
Plekha7	T	C	7: 116,144,974 (GRCm38)	E764G	probably damaging	Het
Plet1	A	G	9: 50,504,352 (GRCm38)		probably null	Het
Plod2	A	G	9: 92,607,135 (GRCm38)	S707G	probably damaging	Het
Plscr4	G	A	9: 92,483,836 (GRCm38)	V120I	probably damaging	Het
Pramel31	T	A	4: 144,361,865 (GRCm38)	V77E	probably benign	Het
Prob1	T	A	18: 35,652,889 (GRCm38)	T771S	possibly damaging	Het
Rasa3	A	G	8: 13,631,768 (GRCm38)		probably benign	Het
Ror2	T	C	13: 53,131,849 (GRCm38)	I110V	probably damaging	Het
Sec24d	A	T	3: 123,353,394 (GRCm38)	H667L	probably benign	Het
Sema3d	A	G	5: 12,573,843 (GRCm38)	Q573R	probably damaging	Het
Serpinb2	T	A	1: 107,524,607 (GRCm38)	V305D	probably damaging	Het
Slc11a2	G	A	15: 100,403,894 (GRCm38)	R249C	probably benign	Het
Slc14a1	T	C	18: 78,109,697 (GRCm38)	I276V	possibly damaging	Het
Snx19	T	A	9: 30,432,324 (GRCm38)	N593K	probably damaging	Het
Ssh2	C	G	11: 77,449,745 (GRCm38)	D574E	probably damaging	Het
Stil	T	C	4: 115,023,875 (GRCm38)	S539P	probably benign	Het
Syt4	T	C	18: 31,444,088 (GRCm38)	K71R	probably damaging	Het
Tenm4	A	T	7: 96,735,808 (GRCm38)	H524L	probably damaging	Het
Tex30	C	T	1: 44,091,404 (GRCm38)	G68D	probably damaging	Het
Tm4sf19	A	G	16: 32,407,682 (GRCm38)	Y138C	probably damaging	Het
Tmem43	A	T	6: 91,486,909 (GRCm38)	I389F	probably benign	Het
Trpm1	A	T	7: 64,223,808 (GRCm38)	N488Y	probably damaging	Het
Tshz1	A	T	18: 84,013,433 (GRCm38)	L950Q	probably damaging	Het
Vmn1r16	T	C	6: 57,322,900 (GRCm38)	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,088,645 (GRCm38)	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,245,378 (GRCm38)	E487K	probably damaging	Het

Other mutations in Fam20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Fam20a	APN	11	109,677,762 (GRCm38)	splice site	probably benign
IGL01296:Fam20a	APN	11	109,685,351 (GRCm38)	missense	possibly damaging	0.93
IGL01319:Fam20a	APN	11	109,678,458 (GRCm38)	splice site	probably benign
IGL01322:Fam20a	APN	11	109,682,912 (GRCm38)	missense	probably damaging	1.00
IGL02086:Fam20a	APN	11	109,673,413 (GRCm38)	missense	probably benign	0.00
IGL02563:Fam20a	APN	11	109,677,794 (GRCm38)	missense	possibly damaging	0.53
IGL02883:Fam20a	APN	11	109,675,127 (GRCm38)	missense	probably damaging	0.99
IGL02893:Fam20a	APN	11	109,721,588 (GRCm38)	missense	probably benign	0.00
Infamy	UTSW	11	109,673,342 (GRCm38)	missense	possibly damaging	0.87
snide	UTSW	11	109,721,375 (GRCm38)	missense	possibly damaging	0.92
ungainly	UTSW	11	109,682,870 (GRCm38)	nonsense	probably null
P0026:Fam20a	UTSW	11	109,675,841 (GRCm38)	critical splice donor site	probably null
R0726:Fam20a	UTSW	11	109,677,194 (GRCm38)	missense	probably damaging	1.00
R1317:Fam20a	UTSW	11	109,677,838 (GRCm38)	missense	probably damaging	0.99
R1462:Fam20a	UTSW	11	109,677,317 (GRCm38)	missense	probably damaging	1.00
R1462:Fam20a	UTSW	11	109,677,317 (GRCm38)	missense	probably damaging	1.00
R1751:Fam20a	UTSW	11	109,677,838 (GRCm38)	missense	probably damaging	0.99
R1761:Fam20a	UTSW	11	109,677,838 (GRCm38)	missense	probably damaging	0.99
R1889:Fam20a	UTSW	11	109,673,554 (GRCm38)	missense	probably benign	0.30
R1971:Fam20a	UTSW	11	109,685,411 (GRCm38)	missense	probably damaging	1.00
R2192:Fam20a	UTSW	11	109,674,623 (GRCm38)	missense	probably benign	0.13
R3745:Fam20a	UTSW	11	109,677,790 (GRCm38)	missense	probably benign	0.17
R4684:Fam20a	UTSW	11	109,721,687 (GRCm38)	missense	unknown
R4835:Fam20a	UTSW	11	109,673,563 (GRCm38)	missense	probably benign	0.40
R5045:Fam20a	UTSW	11	109,677,885 (GRCm38)	missense	probably benign	0.38
R5161:Fam20a	UTSW	11	109,673,370 (GRCm38)	missense	probably benign	0.00
R5715:Fam20a	UTSW	11	109,678,431 (GRCm38)	missense	probably damaging	1.00
R5817:Fam20a	UTSW	11	109,673,418 (GRCm38)	missense	possibly damaging	0.81
R5960:Fam20a	UTSW	11	109,675,969 (GRCm38)	intron	probably benign
R6162:Fam20a	UTSW	11	109,682,870 (GRCm38)	nonsense	probably null
R6312:Fam20a	UTSW	11	109,674,630 (GRCm38)	missense	probably damaging	1.00
R7231:Fam20a	UTSW	11	109,721,375 (GRCm38)	missense	possibly damaging	0.92
R7311:Fam20a	UTSW	11	109,674,628 (GRCm38)	nonsense	probably null
R7366:Fam20a	UTSW	11	109,673,342 (GRCm38)	missense	possibly damaging	0.87
R8013:Fam20a	UTSW	11	109,685,506 (GRCm38)	missense	possibly damaging	0.92
R8014:Fam20a	UTSW	11	109,685,506 (GRCm38)	missense	possibly damaging	0.92
R9086:Fam20a	UTSW	11	109,675,928 (GRCm38)	nonsense	probably null
R9751:Fam20a	UTSW	11	109,675,166 (GRCm38)	missense	probably damaging	1.00

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