Mutagenetix > Incidental Mutation

Incidental Mutation 'R5960:Fam20a'

471424

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

FAM20A, golgi associated secretory pathway pseudokinase

Synonyms

MMRRC Submission

044147-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5960 (G1)

Quality Score

101

Status

Validated

Chromosome

Chromosomal Location

109563752-109613989 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 109566795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116687 (fasta)

Gene Model

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

AlphaFold

Q8CID3

Predicted Effect

probably benign
Transcript: ENSMUST00000020938

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614

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 benign
Transcript: ENSMUST00000155559

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 92.9%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,528 (GRCm39)	T30A	possibly damaging	Het
Adat1	T	C	8: 112,709,233 (GRCm39)	M197V	probably benign	Het
Alcam	T	C	16: 52,115,489 (GRCm39)	T210A	probably benign	Het
Ankfy1	T	A	11: 72,648,178 (GRCm39)	S886R	possibly damaging	Het
Aopep	G	A	13: 63,388,087 (GRCm39)	R22Q	probably damaging	Het
Atg2a	T	G	19: 6,304,390 (GRCm39)	F1136V	probably damaging	Het
Birc6	A	T	17: 74,835,760 (GRCm39)	T72S	probably damaging	Het
Caskin1	A	G	17: 24,717,869 (GRCm39)	T219A	probably benign	Het
Catsperg1	A	G	7: 28,884,208 (GRCm39)		probably benign	Het
Cdh12	A	G	15: 21,492,562 (GRCm39)		probably null	Het
Cfap126	A	G	1: 170,952,882 (GRCm39)	D45G	probably damaging	Het
Ciz1	C	A	2: 32,261,228 (GRCm39)	Q356K	possibly damaging	Het
Ckmt1	T	A	2: 121,194,058 (GRCm39)	I407N	probably damaging	Het
Csmd1	C	T	8: 16,121,430 (GRCm39)	E1756K	possibly damaging	Het
Cwf19l2	A	G	9: 3,411,404 (GRCm39)	K94E	probably benign	Het
Cyth1	A	G	11: 118,023,193 (GRCm39)		probably benign	Het
Ddx25	A	G	9: 35,465,807 (GRCm39)		probably null	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock3	C	A	9: 106,788,554 (GRCm39)	G138*	probably null	Het
Fanci	A	G	7: 79,093,510 (GRCm39)	T1006A	probably damaging	Het
Fat1	T	C	8: 45,486,405 (GRCm39)	Y3320H	probably damaging	Het
Fndc8	A	G	11: 82,788,398 (GRCm39)	D76G	probably benign	Het
Gm19965	T	C	1: 116,749,201 (GRCm39)	I294T	possibly damaging	Het
Gm9755	T	G	8: 67,967,840 (GRCm39)		noncoding transcript	Het
Iars1	T	C	13: 49,878,113 (GRCm39)	V879A	possibly damaging	Het
Ifi209	A	T	1: 173,466,382 (GRCm39)		probably null	Het
Itgb2l	T	C	16: 96,227,459 (GRCm39)	H528R	probably benign	Het
Marf1	T	C	16: 13,970,281 (GRCm39)	Q146R	probably damaging	Het
Megf11	A	G	9: 64,567,731 (GRCm39)	T407A	probably benign	Het
Mtg1	T	C	7: 139,726,906 (GRCm39)		probably benign	Het
Nhsl1	T	G	10: 18,402,724 (GRCm39)	S1317A	probably benign	Het
Nhsl3	A	G	4: 129,115,865 (GRCm39)	V933A	probably damaging	Het
Nudt16	A	T	9: 105,008,698 (GRCm39)	C63S	possibly damaging	Het
Nup107	T	C	10: 117,625,915 (GRCm39)	I49V	probably null	Het
Or51a24	G	T	7: 103,733,560 (GRCm39)	N242K	probably damaging	Het
Or5m13	T	A	2: 85,749,069 (GRCm39)	S267T	probably benign	Het
Orc1	T	C	4: 108,463,495 (GRCm39)	S671P	possibly damaging	Het
Paox	A	G	7: 139,712,402 (GRCm39)	D211G	probably benign	Het
Pck2	A	G	14: 55,786,004 (GRCm39)	T571A	possibly damaging	Het
Pigg	A	G	5: 108,484,160 (GRCm39)	E469G	probably benign	Het
Pikfyve	C	A	1: 65,292,597 (GRCm39)	Y1349*	probably null	Het
Prickle2	A	G	6: 92,353,286 (GRCm39)	F783L	probably benign	Het
Prpf40b	G	T	15: 99,212,785 (GRCm39)	R627L	probably damaging	Het
Rasgrf1	A	G	9: 89,903,437 (GRCm39)	I1217V	possibly damaging	Het
Rbm26	A	T	14: 105,387,751 (GRCm39)	V457D	probably damaging	Het
Rex1bd	C	A	8: 70,959,156 (GRCm39)	R49L	probably null	Het
Robo2	A	T	16: 73,730,603 (GRCm39)	L1003Q	probably damaging	Het
Sacs	A	G	14: 61,446,144 (GRCm39)	D2730G	probably benign	Het
Setd6	T	A	8: 96,442,827 (GRCm39)	L88H	probably damaging	Het
Smim35	T	C	9: 45,154,288 (GRCm39)	Y50H	probably damaging	Het
Sncb	A	G	13: 54,910,795 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,225 (GRCm39)	H985L	probably benign	Het
Spmap2	T	G	10: 79,421,765 (GRCm39)	K151T	possibly damaging	Het
Stard9	A	G	2: 120,530,442 (GRCm39)	E2233G	probably benign	Het
Susd2	C	T	10: 75,475,770 (GRCm39)	V410I	probably damaging	Het
Synm	A	G	7: 67,385,494 (GRCm39)	S281P	probably damaging	Het
Syvn1	C	T	19: 6,100,598 (GRCm39)	R330C	probably damaging	Het
Tiam2	A	T	17: 3,488,915 (GRCm39)	D741V	probably benign	Het
Tph1	A	G	7: 46,311,429 (GRCm39)		probably null	Het
Trav7-5	T	A	14: 53,768,706 (GRCm39)	H91Q	probably benign	Het
Tymp	A	T	15: 89,260,778 (GRCm39)		probably null	Het
Usp45	A	C	4: 21,810,797 (GRCm39)	D331A	probably damaging	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
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
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'- CCTGGCTGTAATTTTGGCGAAG -3'
(R):5'- GCAACCTCTCTTGGCAGATG -3'

Sequencing Primer
(F):5'- AATTTTGGCGAAGGTCTCCC -3'
(R):5'- GCAGATGCCCTTACCCAG -3'

Posted On

2017-03-31