Mutagenetix > Incidental Mutation

Incidental Mutation 'R4684:Fam20a'

353543

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

FAM20A, golgi associated secretory pathway pseudokinase

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4684 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

109563752-109613989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109612513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 10 (L10R)

Ref Sequence

ENSEMBL: ENSMUSP00000116687 (fasta)

Gene Model

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

AlphaFold

Q8CID3

Predicted Effect

unknown
Transcript: ENSMUST00000020938
AA Change: L10R

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: L10R

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

unknown
Transcript: ENSMUST00000155559
AA Change: L10R

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: L10R

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: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310039H08Rik	T	C	17: 47,083,872 (GRCm39)	V45A	probably benign	Het
4921509C19Rik	A	G	2: 151,313,791 (GRCm39)	I629T	unknown	Het
4933402N03Rik	T	C	7: 130,740,413 (GRCm39)	R268G	probably damaging	Het
Abca13	A	T	11: 9,384,193 (GRCm39)	R3882*	probably null	Het
Adamts3	T	G	5: 89,850,866 (GRCm39)	T558P	probably damaging	Het
Ano2	A	G	6: 125,767,304 (GRCm39)	N214S	probably benign	Het
Arhgef4	A	T	1: 34,850,866 (GRCm39)		probably null	Het
Boc	C	T	16: 44,320,743 (GRCm39)	A306T	probably benign	Het
Capn10	T	C	1: 92,871,503 (GRCm39)	F367S	probably damaging	Het
Ccdc6	T	C	10: 70,025,086 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,929,372 (GRCm39)	S688R	possibly damaging	Het
Cpxm2	G	T	7: 131,650,767 (GRCm39)	P631Q	possibly damaging	Het
Cyp2c68	A	G	19: 39,687,779 (GRCm39)	V406A	possibly damaging	Het
Cyp4a30b	T	A	4: 115,312,200 (GRCm39)	Y118N	probably damaging	Het
Dgki	A	T	6: 37,276,781 (GRCm39)		probably benign	Het
Disp2	A	G	2: 118,623,237 (GRCm39)	N1323S	probably damaging	Het
Dock1	T	A	7: 134,326,138 (GRCm39)	Y42*	probably null	Het
Eps8l1	C	A	7: 4,476,944 (GRCm39)	P471Q	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,446 (GRCm39)	I151K	probably damaging	Het
Gga1	C	A	15: 78,769,509 (GRCm39)	P161T	probably damaging	Het
Gm9923	T	A	10: 72,145,306 (GRCm39)	Y52*	probably null	Het
Gucy2g	A	G	19: 55,194,688 (GRCm39)	F910L	probably damaging	Het
H2-T5	A	T	17: 36,476,750 (GRCm39)	H241Q	possibly damaging	Het
Helz	T	C	11: 107,539,971 (GRCm39)	V315A	probably damaging	Het
Hk2	T	C	6: 82,716,629 (GRCm39)	Y301C	probably damaging	Het
Htt	C	T	5: 35,010,109 (GRCm39)	P1521S	probably damaging	Het
Iah1	T	C	12: 21,366,434 (GRCm39)	M1T	probably null	Het
Ik	T	C	18: 36,885,467 (GRCm39)	S287P	probably damaging	Het
Itga1	T	A	13: 115,185,906 (GRCm39)	D32V	probably damaging	Het
Itpr2	A	G	6: 146,274,671 (GRCm39)	F837S	probably damaging	Het
Klk14	A	G	7: 43,341,392 (GRCm39)	I15V	probably benign	Het
Kng2	T	C	16: 22,806,391 (GRCm39)	I603V	possibly damaging	Het
Lama1	T	C	17: 68,080,773 (GRCm39)	I1267T	possibly damaging	Het
Lrp1b	A	C	2: 40,812,316 (GRCm39)	L2430V	probably benign	Het
Lrrn3	T	G	12: 41,504,243 (GRCm39)	K25Q	possibly damaging	Het
Lta4h	T	A	10: 93,304,678 (GRCm39)	N233K	probably benign	Het
Mapk13	T	C	17: 28,989,023 (GRCm39)	I53T	probably damaging	Het
Mdn1	T	C	4: 32,666,430 (GRCm39)	F123L	probably damaging	Het
Myh4	G	C	11: 67,136,637 (GRCm39)	D472H	probably damaging	Het
Nipa2	A	T	7: 55,585,574 (GRCm39)	N121K	probably benign	Het
Nostrin	C	T	2: 69,014,268 (GRCm39)	T408M	probably benign	Het
Oosp2	C	T	19: 11,627,017 (GRCm39)	R102H	probably damaging	Het
Or1j18	A	G	2: 36,624,686 (GRCm39)	M118V	probably damaging	Het
Or4k15b	T	C	14: 50,272,287 (GRCm39)	D191G	probably damaging	Het
Osgin2	T	A	4: 16,001,946 (GRCm39)	I202L	probably benign	Het
Pbld2	C	A	10: 62,893,476 (GRCm39)	R271S	probably damaging	Het
Pex6	C	T	17: 47,023,027 (GRCm39)	T201I	probably benign	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Pllp	T	A	8: 95,403,906 (GRCm39)	D47V	possibly damaging	Het
Plxna2	A	G	1: 194,444,902 (GRCm39)	S765G	probably benign	Het
Prkca	A	T	11: 107,852,434 (GRCm39)	Y100N	probably damaging	Het
Prkg1	T	A	19: 31,641,579 (GRCm39)	K35*	probably null	Het
Psmc2	A	G	5: 22,008,263 (GRCm39)	D389G	possibly damaging	Het
Rnf213	A	G	11: 119,331,951 (GRCm39)	T2387A	probably damaging	Het
Ros1	T	C	10: 52,005,192 (GRCm39)	N914S	probably damaging	Het
Ruvbl1	C	A	6: 88,468,581 (GRCm39)	T367K	probably benign	Het
Scube2	C	T	7: 109,409,920 (GRCm39)	R525H	probably damaging	Het
Sec14l4	T	C	11: 3,985,200 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,587,862 (GRCm39)	D751G	probably damaging	Het
Setd3	T	C	12: 108,074,949 (GRCm39)	D402G	probably benign	Het
Slc15a2	T	A	16: 36,578,211 (GRCm39)	K359N	probably damaging	Het
Slc25a21	A	G	12: 57,243,721 (GRCm39)	S2P	probably benign	Het
Slfn8	A	T	11: 82,908,332 (GRCm39)	H70Q	probably benign	Het
Spef2	T	C	15: 9,647,576 (GRCm39)	I944V	probably benign	Het
Spg11	A	G	2: 121,895,557 (GRCm39)	F1887S	probably damaging	Het
Sptbn4	A	T	7: 27,066,160 (GRCm39)	D649E	possibly damaging	Het
Sptbn4	T	C	7: 27,063,844 (GRCm39)	E879G	probably damaging	Het
Stx5a	C	A	19: 8,720,725 (GRCm39)	R121S	probably damaging	Het
Tbcd	T	C	11: 121,384,597 (GRCm39)	L26P	probably damaging	Het
Tecpr1	T	C	5: 144,144,255 (GRCm39)	D649G	probably benign	Het
Tfam	A	G	10: 71,073,677 (GRCm39)	S32P	probably benign	Het
Tmt1b	G	T	10: 128,796,571 (GRCm39)	C79*	probably null	Het
Trmt44	C	T	5: 35,715,387 (GRCm39)	R642H	probably benign	Het
Trpm3	G	A	19: 22,965,145 (GRCm39)	A1547T	probably benign	Het
Ttll6	T	C	11: 96,044,003 (GRCm39)	V519A	probably benign	Het
Umodl1	T	C	17: 31,217,088 (GRCm39)	F1107L	probably benign	Het
Usp5	A	T	6: 124,794,919 (GRCm39)	V677E	probably damaging	Het
Utp20	A	T	10: 88,643,307 (GRCm39)	L605*	probably null	Het
Utrn	T	C	10: 12,620,984 (GRCm39)	D229G	probably damaging	Het
Uty	A	T	Y: 1,176,502 (GRCm39)	L178*	probably null	Het
Vmn2r88	A	T	14: 51,650,791 (GRCm39)	D168V	possibly damaging	Het
Vps13b	T	C	15: 35,646,324 (GRCm39)	V1476A	probably damaging	Het
Vps13b	C	A	15: 35,879,967 (GRCm39)	T3014K	probably benign	Het
Vps13b	C	T	15: 35,841,487 (GRCm39)	H2506Y	probably benign	Het
Vps37c	T	C	19: 10,690,132 (GRCm39)	V198A	probably benign	Het
Zfc3h1	T	C	10: 115,259,290 (GRCm39)	Y1621H	probably benign	Het
Zfp251	T	C	15: 76,738,607 (GRCm39)	D162G	possibly damaging	Het
Zfp292	T	C	4: 34,807,078 (GRCm39)	T1994A	probably benign	Het
Zfp791	A	G	8: 85,837,559 (GRCm39)	Y102H	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
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
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'- CTGAAAAGTTGTGCGAGGC -3'
(R):5'- CTCTACTGGGCAAGAAAAGACG -3'

Sequencing Primer
(F):5'- AAAAGTTGTGCGAGGCTGTGC -3'
(R):5'- ACGCTGTCAACACTGTGAG -3'

Posted On

2015-10-21