Mutagenetix > Incidental Mutation

Incidental Mutation 'R8014:Fam20a'

617083

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

FAM20A, golgi associated secretory pathway pseudokinase

Synonyms

MMRRC Submission

067454-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109563752-109613989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109576332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 142 (E142D)

Ref Sequence

ENSEMBL: ENSMUSP00000020938 (fasta)

Gene Model

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

AlphaFold

Q8CID3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020938
AA Change: E142D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: E142D

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

possibly damaging
Transcript: ENSMUST00000155559
AA Change: E142D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: E142D

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030458C11Rik	C	A	15: 12,824,615 (GRCm39)	D7Y	probably benign	Het
Aff1	A	G	5: 103,981,735 (GRCm39)	T625A	possibly damaging	Het
Aldh8a1	T	C	10: 21,265,201 (GRCm39)	V276A	probably benign	Het
Alkbh3	T	C	2: 93,831,858 (GRCm39)	D124G	probably benign	Het
Apob	T	A	12: 8,060,798 (GRCm39)	N3093K	possibly damaging	Het
Atp13a1	C	T	8: 70,252,429 (GRCm39)	R608*	probably null	Het
Bbs7	A	T	3: 36,648,536 (GRCm39)	I404K	probably damaging	Het
Cacna2d1	A	T	5: 16,547,689 (GRCm39)	T647S	possibly damaging	Het
Carmil1	T	C	13: 24,220,304 (GRCm39)	E1140G	possibly damaging	Het
Ccdc158	C	A	5: 92,796,889 (GRCm39)	E482D	probably damaging	Het
Ccdc92	A	T	5: 124,913,090 (GRCm39)	H146Q	probably damaging	Het
Cntnap4	T	A	8: 113,480,577 (GRCm39)	N341K	probably damaging	Het
Cog1	A	G	11: 113,546,990 (GRCm39)	D528G	probably damaging	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
D130043K22Rik	A	T	13: 25,040,685 (GRCm39)	I36F	probably damaging	Het
Dis3	T	A	14: 99,314,835 (GRCm39)	R954W	possibly damaging	Het
Eef1ece2	A	T	16: 20,461,067 (GRCm39)	T618S	probably benign	Het
Ext1	T	C	15: 52,939,283 (GRCm39)	I589V	possibly damaging	Het
Fars2	C	T	13: 36,389,068 (GRCm39)	Q186*	probably null	Het
Fcgbpl1	G	A	7: 27,836,966 (GRCm39)	R295H	probably benign	Het
Fhdc1	A	T	3: 84,381,946 (GRCm39)	M1K	probably null	Het
Gars1	T	A	6: 55,050,392 (GRCm39)	F551Y	probably benign	Het
Gm28363	A	G	1: 117,654,534 (GRCm39)	R58G	probably benign	Het
Gm8356	A	T	14: 17,692,450 (GRCm39)	N58K	probably damaging	Het
Gm9758	A	G	5: 14,961,454 (GRCm39)	V175A	possibly damaging	Het
Gpr182	T	C	10: 127,586,874 (GRCm39)	T26A	possibly damaging	Het
Gpr19	A	G	6: 134,846,436 (GRCm39)	Y416H	probably damaging	Het
Hrob	A	G	11: 102,148,725 (GRCm39)	N379D	probably benign	Het
Itgb7	T	A	15: 102,131,087 (GRCm39)	S322C	probably damaging	Het
Kcnma1	T	A	14: 23,423,211 (GRCm39)	I831F	probably benign	Het
Lrba	A	T	3: 86,325,278 (GRCm39)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,420,619 (GRCm39)	T212S	probably benign	Het
Map3k4	A	T	17: 12,489,918 (GRCm39)	C504*	probably null	Het
Morc2a	T	C	11: 3,627,419 (GRCm39)	S281P	probably damaging	Het
Muc16	T	C	9: 18,566,171 (GRCm39)	H2116R	unknown	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Omg	T	C	11: 79,393,729 (GRCm39)	D43G	possibly damaging	Het
Or13c7	T	A	4: 43,854,958 (GRCm39)	F216L	probably benign	Het
Or2ag15	C	T	7: 106,340,824 (GRCm39)	V106I	probably benign	Het
Or4c122	T	A	2: 89,079,343 (GRCm39)	I220F	probably damaging	Het
Or4c3	C	A	2: 89,852,087 (GRCm39)	V108F	possibly damaging	Het
Or5b3	A	T	19: 13,388,175 (GRCm39)	T81S	not run	Het
Or5w22	A	T	2: 87,362,508 (GRCm39)	M44L	probably benign	Het
Pdia6	T	C	12: 17,323,966 (GRCm39)	L66S	probably damaging	Het
Pds5a	A	G	5: 65,785,082 (GRCm39)	I930T	possibly damaging	Het
Piezo2	C	T	18: 63,216,271 (GRCm39)	G1169S	probably benign	Het
Pkhd1	A	G	1: 20,579,115 (GRCm39)		probably null	Het
Plekhg1	A	T	10: 3,907,758 (GRCm39)	R947W		Het
Ptprs	A	C	17: 56,742,994 (GRCm39)	S383A	probably damaging	Het
Rin3	T	A	12: 102,327,630 (GRCm39)	L193*	probably null	Het
Sgsh	A	G	11: 119,243,521 (GRCm39)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,218,794 (GRCm39)	Y465C	probably damaging	Het
Stab2	C	A	10: 86,686,767 (GRCm39)	S2259I	possibly damaging	Het
Tbc1d24	G	A	17: 24,401,795 (GRCm39)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,200,319 (GRCm39)	I99V	probably benign	Het
Tmem108	A	T	9: 103,376,606 (GRCm39)	I281N	probably benign	Het
Usp31	T	C	7: 121,248,480 (GRCm39)	S988G	probably damaging	Het
Usp44	G	T	10: 93,688,571 (GRCm39)		probably null	Het
Zbtb26	T	A	2: 37,327,013 (GRCm39)		probably null	Het
Zfp599	A	G	9: 22,160,777 (GRCm39)	Y463H	probably benign	Het
Zfp750	T	A	11: 121,403,843 (GRCm39)	D344V	possibly damaging	Het
Zmym5	T	A	14: 57,031,883 (GRCm39)	K408N	possibly 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
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
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'- AACCTCACCAGCACTGATGG -3'
(R):5'- GTCTGTATGTAACCTTGTGACATTG -3'

Sequencing Primer
(F):5'- CACTGATGGTGGGGAAGTGTCTC -3'
(R):5'- GCAGGGGCTGTTTAATTACCCAC -3'

Posted On

2020-01-23