Mutagenetix > Incidental Mutation

Incidental Mutation 'R1462:Fam20a'

158972

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

FAM20A, golgi associated secretory pathway pseudokinase

Synonyms

MMRRC Submission

039516-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109563752-109613989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109568143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 316 (F316V)

Ref Sequence

ENSEMBL: ENSMUSP00000116687 (fasta)

Gene Model

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

AlphaFold

Q8CID3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020938
AA Change: F316V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: F316V

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

noncoding transcript
Transcript: ENSMUST00000144972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146408

Predicted Effect

probably damaging
Transcript: ENSMUST00000155559
AA Change: F316V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: F316V

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

0.4241

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 92.6%
20x: 79.9%

Validation Efficiency

MGI Phenotype

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,642,370 (GRCm39)	S104*	probably null	Het
Abca9	T	C	11: 110,051,342 (GRCm39)	D118G	probably benign	Het
Adamts16	A	G	13: 70,984,253 (GRCm39)	F137L	probably benign	Het
Adamts3	T	C	5: 90,009,208 (GRCm39)	I152V	probably benign	Het
Adcy4	T	A	14: 56,015,765 (GRCm39)	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,455,745 (GRCm39)	Y458N	probably damaging	Het
Bhlhe22	C	G	3: 18,109,946 (GRCm39)	S332C	probably damaging	Het
Card19	T	A	13: 49,358,760 (GRCm39)	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,485,662 (GRCm39)	L11P	probably damaging	Het
Cdadc1	A	G	14: 59,813,307 (GRCm39)	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,719,288 (GRCm39)	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,584,211 (GRCm39)	K723E	possibly damaging	Het
Cep70	A	G	9: 99,145,773 (GRCm39)	I147V	probably benign	Het
Cfap58	A	T	19: 47,950,869 (GRCm39)	H410L	probably damaging	Het
Chat	T	C	14: 32,142,735 (GRCm39)	K418R	probably damaging	Het
Cic	T	G	7: 24,971,032 (GRCm39)	D254E	probably damaging	Het
Ckap4	T	C	10: 84,363,431 (GRCm39)	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,763,739 (GRCm39)	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,380,632 (GRCm39)	N418D	probably damaging	Het
Daam1	A	T	12: 71,990,916 (GRCm39)	I177L	unknown	Het
Ercc5	A	G	1: 44,219,784 (GRCm39)	T1019A	probably damaging	Het
F13b	T	A	1: 139,435,374 (GRCm39)	V173E	probably damaging	Het
Flrt2	T	C	12: 95,746,112 (GRCm39)	V150A	probably damaging	Het
Fnta	A	C	8: 26,489,599 (GRCm39)		probably null	Het
Ghsr	A	G	3: 27,426,025 (GRCm39)	D27G	probably benign	Het
Gtpbp1	A	G	15: 79,592,086 (GRCm39)	N96D	probably damaging	Het
H1f7	A	T	15: 98,154,454 (GRCm39)	W232R	unknown	Het
Ibtk	A	T	9: 85,606,198 (GRCm39)	I443N	probably damaging	Het
Ifi207	T	C	1: 173,552,513 (GRCm39)	H968R	probably damaging	Het
Ifit2	A	G	19: 34,550,586 (GRCm39)	D42G	probably null	Het
Il17rc	A	T	6: 113,455,950 (GRCm39)	D265V	probably damaging	Het
Itfg2	T	C	6: 128,401,691 (GRCm39)	D29G	probably damaging	Het
Itprid1	A	G	6: 55,952,649 (GRCm39)	H864R	probably damaging	Het
Lrrc1	A	G	9: 77,349,547 (GRCm39)	F295L	probably benign	Het
Mrps28	T	A	3: 8,965,184 (GRCm39)	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,499,693 (GRCm39)	K37M	possibly damaging	Het
Mug1	C	T	6: 121,859,588 (GRCm39)	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084 (GRCm39)	H60R	possibly damaging	Het
Mybl2	T	C	2: 162,914,628 (GRCm39)	S249P	probably benign	Het
Naip6	A	G	13: 100,436,748 (GRCm39)	Y592H	possibly damaging	Het
Nrp1	A	G	8: 129,229,279 (GRCm39)	N919S	probably benign	Het
Nudt9	C	T	5: 104,212,904 (GRCm39)	Q326*	probably null	Het
Or5w13	A	T	2: 87,523,720 (GRCm39)	C169S	probably damaging	Het
Or6c76b	A	G	10: 129,693,100 (GRCm39)	T238A	probably damaging	Het
Or7g17	T	A	9: 18,768,407 (GRCm39)	M162K	probably benign	Het
Or9k7	T	A	10: 130,046,592 (GRCm39)	I136F	probably benign	Het
Pcsk4	T	C	10: 80,161,815 (GRCm39)	E142G	probably damaging	Het
Pde3a	C	A	6: 141,405,560 (GRCm39)	P471T	probably benign	Het
Pign	A	T	1: 105,512,727 (GRCm39)	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,181,672 (GRCm39)	M420K	probably damaging	Het
Prr14	T	A	7: 127,073,160 (GRCm39)		probably null	Het
Rchy1	T	A	5: 92,105,741 (GRCm39)	Q69L	probably damaging	Het
Sec23ip	T	G	7: 128,367,862 (GRCm39)	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,473,925 (GRCm39)	S47P	probably damaging	Het
Speer4a3	T	A	5: 26,156,623 (GRCm39)	I119F	possibly damaging	Het
Stil	G	A	4: 114,881,161 (GRCm39)	M568I	probably benign	Het
Syt3	T	A	7: 44,045,434 (GRCm39)	V558E	probably damaging	Het
Szt2	A	G	4: 118,231,164 (GRCm39)	V2533A	unknown	Het
Tenm4	A	G	7: 96,353,360 (GRCm39)	Y384C	probably damaging	Het
Tfam	T	C	10: 71,071,380 (GRCm39)	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,714,304 (GRCm39)	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,409,566 (GRCm39)	Y15*	probably null	Het
Uhrf1	C	T	17: 56,625,035 (GRCm39)	A526V	probably damaging	Het
Vmn2r67	T	C	7: 84,805,046 (GRCm39)	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,817,660 (GRCm39)	I412M	possibly damaging	Het
Wdr17	A	T	8: 55,123,363 (GRCm39)	I479K	probably damaging	Het
Wt1	T	C	2: 104,997,176 (GRCm39)	V371A	probably damaging	Het
Zfp536	G	T	7: 37,178,735 (GRCm39)	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,803,108 (GRCm39)	V560A	probably benign	Het

Other mutations in Fam20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Fam20a	APN	11	109,568,588 (GRCm39)	splice site	probably benign
IGL01296:Fam20a	APN	11	109,576,177 (GRCm39)	missense	possibly damaging	0.93
IGL01319:Fam20a	APN	11	109,569,284 (GRCm39)	splice site	probably benign
IGL01322:Fam20a	APN	11	109,573,738 (GRCm39)	missense	probably damaging	1.00
IGL02086:Fam20a	APN	11	109,564,239 (GRCm39)	missense	probably benign	0.00
IGL02563:Fam20a	APN	11	109,568,620 (GRCm39)	missense	possibly damaging	0.53
IGL02883:Fam20a	APN	11	109,565,953 (GRCm39)	missense	probably damaging	0.99
IGL02893:Fam20a	APN	11	109,612,414 (GRCm39)	missense	probably benign	0.00
Infamy	UTSW	11	109,564,168 (GRCm39)	missense	possibly damaging	0.87
snide	UTSW	11	109,612,201 (GRCm39)	missense	possibly damaging	0.92
ungainly	UTSW	11	109,573,696 (GRCm39)	nonsense	probably null
P0026:Fam20a	UTSW	11	109,566,667 (GRCm39)	critical splice donor site	probably null
R0726:Fam20a	UTSW	11	109,568,020 (GRCm39)	missense	probably damaging	1.00
R1317:Fam20a	UTSW	11	109,568,664 (GRCm39)	missense	probably damaging	0.99
R1462:Fam20a	UTSW	11	109,568,143 (GRCm39)	missense	probably damaging	1.00
R1751:Fam20a	UTSW	11	109,568,664 (GRCm39)	missense	probably damaging	0.99
R1761:Fam20a	UTSW	11	109,568,664 (GRCm39)	missense	probably damaging	0.99
R1889:Fam20a	UTSW	11	109,564,380 (GRCm39)	missense	probably benign	0.30
R1895:Fam20a	UTSW	11	109,564,380 (GRCm39)	missense	probably benign	0.30
R1971:Fam20a	UTSW	11	109,576,237 (GRCm39)	missense	probably damaging	1.00
R2192:Fam20a	UTSW	11	109,565,449 (GRCm39)	missense	probably benign	0.13
R3745:Fam20a	UTSW	11	109,568,616 (GRCm39)	missense	probably benign	0.17
R4684:Fam20a	UTSW	11	109,612,513 (GRCm39)	missense	unknown
R4835:Fam20a	UTSW	11	109,564,389 (GRCm39)	missense	probably benign	0.40
R5045:Fam20a	UTSW	11	109,568,711 (GRCm39)	missense	probably benign	0.38
R5161:Fam20a	UTSW	11	109,564,196 (GRCm39)	missense	probably benign	0.00
R5715:Fam20a	UTSW	11	109,569,257 (GRCm39)	missense	probably damaging	1.00
R5817:Fam20a	UTSW	11	109,564,244 (GRCm39)	missense	possibly damaging	0.81
R5960:Fam20a	UTSW	11	109,566,795 (GRCm39)	intron	probably benign
R6162:Fam20a	UTSW	11	109,573,696 (GRCm39)	nonsense	probably null
R6312:Fam20a	UTSW	11	109,565,456 (GRCm39)	missense	probably damaging	1.00
R7231:Fam20a	UTSW	11	109,612,201 (GRCm39)	missense	possibly damaging	0.92
R7311:Fam20a	UTSW	11	109,565,454 (GRCm39)	nonsense	probably null
R7366:Fam20a	UTSW	11	109,564,168 (GRCm39)	missense	possibly damaging	0.87
R8013:Fam20a	UTSW	11	109,576,332 (GRCm39)	missense	possibly damaging	0.92
R8014:Fam20a	UTSW	11	109,576,332 (GRCm39)	missense	possibly damaging	0.92
R9086:Fam20a	UTSW	11	109,566,754 (GRCm39)	nonsense	probably null
R9751:Fam20a	UTSW	11	109,565,992 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTAGTGCAGCCACCCTGAAGAGC -3'
(R):5'- AGGTCCAACAGCCTTTTCCCAAGC -3'

Sequencing Primer
(F):5'- GGTGTTGTCAGGAAGCCC -3'
(R):5'- CCCATCCTACTCCCTAAAGAGGTT -3'

Posted On

2014-03-14