Mutagenetix > Incidental Mutation

Incidental Mutation 'R8013:Fam20a'

617014

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

family with sequence similarity 20, member A

Synonyms

MMRRC Submission

067453-MU

Accession Numbers

Ncbi RefSeq: NM_153782.1; MGI:2388266

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109669749-109722279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109685506 bp (GRCm38)

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: 99.4%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	G	6: 149,328,870 (GRCm38)	V1138G	probably damaging	Het
6030458C11Rik	C	A	15: 12,824,529 (GRCm38)	D7Y	probably benign	Het
9530053A07Rik	G	A	7: 28,137,541 (GRCm38)	R295H	probably benign	Het
Ahnak	A	G	19: 9,009,335 (GRCm38)	D2661G	unknown	Het
Akap13	G	A	7: 75,730,465 (GRCm38)	R462H	probably damaging	Het
Apob	T	A	12: 8,010,798 (GRCm38)	N3093K	possibly damaging	Het
Baz2a	T	G	10: 128,125,292 (GRCm38)	V1628G	possibly damaging	Het
Baz2a	C	T	10: 128,125,288 (GRCm38)	R1627C	probably benign	Het
Bbs7	A	T	3: 36,594,387 (GRCm38)	I404K	probably damaging	Het
BC030867	A	G	11: 102,257,899 (GRCm38)	N379D	probably benign	Het
Cacna1g	T	C	11: 94,456,970 (GRCm38)	Y764C	probably damaging	Het
Casr	G	A	16: 36,509,644 (GRCm38)	L443F	probably benign	Het
Cfap43	T	A	19: 47,773,109 (GRCm38)	I849F	probably damaging	Het
Cntn3	A	T	6: 102,199,317 (GRCm38)	H812Q	probably benign	Het
Cog1	A	G	11: 113,656,164 (GRCm38)	D528G	probably damaging	Het
Depdc5	C	T	5: 32,973,842 (GRCm38)	T1229M	probably benign	Het
Dis3	T	A	14: 99,077,399 (GRCm38)	R954W	possibly damaging	Het
Disp2	T	A	2: 118,789,682 (GRCm38)	Y298*	probably null	Het
Dock2	A	C	11: 34,705,850 (GRCm38)	I393S	probably damaging	Het
Dtd1	A	G	2: 144,617,332 (GRCm38)	D92G	probably damaging	Het
Eef2	T	A	10: 81,178,196 (GRCm38)	V121D	probably damaging	Het
Eml1	T	A	12: 108,521,679 (GRCm38)	I550N	probably benign	Het
Entpd7	A	G	19: 43,728,055 (GRCm38)	D496G	probably benign	Het
Ets2	T	A	16: 95,716,100 (GRCm38)	L292Q	probably damaging	Het
Ext1	T	C	15: 53,075,887 (GRCm38)	I589V	possibly damaging	Het
Farp1	T	A	14: 121,242,401 (GRCm38)	I368N	probably damaging	Het
Fars2	C	T	13: 36,205,085 (GRCm38)	Q186*	probably null	Het
Fbn2	T	C	18: 58,104,081 (GRCm38)	T617A	possibly damaging	Het
Fbxo38	T	C	18: 62,530,811 (GRCm38)	E203G	possibly damaging	Het
Fhdc1	A	T	3: 84,474,639 (GRCm38)	M1K	probably null	Het
Gatad1	T	C	5: 3,643,540 (GRCm38)	R210G	probably benign	Het
Gm28363	A	G	1: 117,726,804 (GRCm38)	R58G	probably benign	Het
Gm8356	A	T	14: 6,536,303 (GRCm38)	N58K	probably damaging	Het
Grsf1	A	G	5: 88,675,756 (GRCm38)		probably null	Het
Hephl1	T	A	9: 15,054,609 (GRCm38)	D1016V	possibly damaging	Het
Kcnma1	T	A	14: 23,373,143 (GRCm38)	I831F	probably benign	Het
Krt78	T	C	15: 101,948,542 (GRCm38)	R377G	probably damaging	Het
Lama2	T	C	10: 27,344,498 (GRCm38)	H457R	probably benign	Het
Lmnb1	T	A	18: 56,708,359 (GRCm38)	Y83N	probably damaging	Het
Loxl4	A	G	19: 42,607,676 (GRCm38)	C113R	probably damaging	Het
Lrba	A	T	3: 86,417,971 (GRCm38)	D1912V	probably damaging	Het
Macf1	T	A	4: 123,526,826 (GRCm38)	T212S	probably benign	Het
Map3k4	A	T	17: 12,271,031 (GRCm38)	C504*	probably null	Het
Map4k4	T	C	1: 39,962,212 (GRCm38)	I53T	unknown	Het
Myo5b	C	T	18: 74,760,899 (GRCm38)	Q1700*	probably null	Het
Npas2	T	C	1: 39,338,065 (GRCm38)	F503L	probably benign	Het
Nrg1	A	T	8: 31,949,923 (GRCm38)	S149T	probably benign	Het
Olfr1243	A	G	2: 89,527,936 (GRCm38)	V158A	probably benign	Het
Olfr155	T	A	4: 43,854,958 (GRCm38)	F216L	probably benign	Het
Olfr697	C	T	7: 106,741,617 (GRCm38)	V106I	probably benign	Het
Olfr824	T	A	10: 130,126,778 (GRCm38)	K93M	probably damaging	Het
Pdia6	T	C	12: 17,273,965 (GRCm38)	L66S	probably damaging	Het
Prss35	T	C	9: 86,755,425 (GRCm38)	S83P	probably damaging	Het
Psme4	G	A	11: 30,804,320 (GRCm38)	M192I	probably benign	Het
Ptprs	A	C	17: 56,435,994 (GRCm38)	S383A	probably damaging	Het
Sar1b	C	T	11: 51,779,794 (GRCm38)	P55L	possibly damaging	Het
Sgsh	A	G	11: 119,352,695 (GRCm38)	V67A	probably damaging	Het
Slc16a4	A	G	3: 107,311,478 (GRCm38)	Y465C	probably damaging	Het
Soga1	A	G	2: 157,030,786 (GRCm38)		probably null	Het
Stard9	T	C	2: 120,688,101 (GRCm38)	I502T	probably damaging	Het
Sugp2	T	A	8: 70,251,642 (GRCm38)	Y610N	probably damaging	Het
Tbc1d24	G	A	17: 24,182,821 (GRCm38)	P385S	possibly damaging	Het
Tm4sf1	T	C	3: 57,292,898 (GRCm38)	I99V	probably benign	Het
Tpr	G	T	1: 150,398,608 (GRCm38)	V163L	probably benign	Het
Usp31	T	C	7: 121,649,257 (GRCm38)	S988G	probably damaging	Het
Wdr63	T	C	3: 146,081,285 (GRCm38)	T332A	probably damaging	Het
Zbtb26	T	A	2: 37,437,001 (GRCm38)		probably null	Het
Zfp536	T	C	7: 37,569,610 (GRCm38)	N127S	probably damaging	Het
Zfp750	T	A	11: 121,513,017 (GRCm38)	D344V	possibly damaging	Het
Zmym5	T	A	14: 56,794,426 (GRCm38)	K408N	possibly 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
R1895: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
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'- GAACCTCACCAGCACTGATG -3'
(R):5'- TCACGGGATCTGCAGTTTGC -3'

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

Posted On

2020-01-23