Mutagenetix > Incidental Mutation

Incidental Mutation 'R5715:Fam20a'

451133

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

family with sequence similarity 20, member A

Synonyms

MMRRC Submission

043336-MU

Accession Numbers

Ncbi RefSeq: NM_153782.1; MGI:2388266

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109669749-109722279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109678431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 246 (E246G)

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: E246G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: E246G

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: E246G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: E246G

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931423N10Rik	T	C	2: 23,207,977	Y56H	possibly damaging	Het
9930111J21Rik2	T	A	11: 49,019,950	Y552F	probably damaging	Het
Asprv1	T	A	6: 86,628,614	D147E	probably benign	Het
Atg4c	G	T	4: 99,258,402	L405F	probably damaging	Het
Birc6	C	T	17: 74,631,620	L2670F	probably damaging	Het
Cdc20	T	C	4: 118,434,818	D379G	probably damaging	Het
Chd6	T	C	2: 160,949,878	M2520V	probably benign	Het
Clca4b	A	G	3: 144,913,257	V707A	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Col12a1	A	T	9: 79,616,065	C2743*	probably null	Het
Coq6	C	A	12: 84,366,907	D70E	probably benign	Het
Cspg4	T	A	9: 56,891,051	V1450D	possibly damaging	Het
Dnah7a	A	G	1: 53,413,778	L3847P	probably damaging	Het
Drd2	T	A	9: 49,404,889	H316Q	probably benign	Het
Dusp19	T	A	2: 80,630,986	N206K	probably benign	Het
Fam13c	T	G	10: 70,534,840	F270C	probably damaging	Het
Fbxo31	A	G	8: 121,578,563	F65L	probably damaging	Het
Fshr	T	A	17: 88,986,396		probably null	Het
Fstl4	T	C	11: 53,000,416	V127A	possibly damaging	Het
Gdpd4	A	T	7: 97,961,597	I75F	probably benign	Het
Gm13128	A	G	4: 144,331,300	D159G	possibly damaging	Het
Grm5	C	A	7: 88,130,256	A968E	probably benign	Het
Gucy2g	A	C	19: 55,233,155	F305V	possibly damaging	Het
Hivep3	T	C	4: 120,096,373	F629L	probably benign	Het
Hoxb1	A	G	11: 96,366,326	E167G	probably benign	Het
Hoxd4	T	C	2: 74,727,364	L29P	probably damaging	Het
Ikbkb	A	G	8: 22,678,850	L211P	probably damaging	Het
Insc	T	C	7: 114,849,841	V499A	probably benign	Het
Irak3	A	T	10: 120,142,736	H511Q	possibly damaging	Het
Itpripl1	T	C	2: 127,142,007	E65G	probably damaging	Het
Lurap1l	T	A	4: 80,953,721	S150R	possibly damaging	Het
Mab21l3	C	T	3: 101,823,407	R172Q	probably benign	Het
Macf1	T	C	4: 123,684,014	D59G	probably damaging	Het
Mettl21a	A	T	1: 64,615,155	S68T	probably benign	Het
Mlxip	T	A	5: 123,440,058	W146R	probably damaging	Het
Mpp2	T	A	11: 102,062,261	N285I	probably damaging	Het
Mrgprb4	T	C	7: 48,199,039	N47S	probably damaging	Het
Msi2	A	G	11: 88,386,063	Y237H	probably damaging	Het
Muc4	C	T	16: 32,751,916	T598I	possibly damaging	Het
Musk	A	T	4: 58,333,663	I253F	probably damaging	Het
Myo5b	G	T	18: 74,742,175	C1550F	possibly damaging	Het
Nckap5l	T	C	15: 99,423,576	T1137A	probably benign	Het
Neb	T	C	2: 52,251,768	D3009G	probably damaging	Het
Nxph1	T	A	6: 9,247,740	V237E	probably damaging	Het
Olfr622	A	C	7: 103,639,802	S113A	probably damaging	Het
Pla2g12a	A	G	3: 129,894,942	K150E	probably damaging	Het
Ptpn23	G	A	9: 110,387,075	R1238W	probably damaging	Het
Pts	C	T	9: 50,522,278	G124R	probably damaging	Het
Rfk	A	T	19: 17,398,638	I99F	probably benign	Het
Rictor	A	T	15: 6,750,716	R151*	probably null	Het
Scn2a	T	A	2: 65,717,584	I1040N	probably benign	Het
Serinc5	A	C	13: 92,706,202	T387P	probably damaging	Het
Sh3bp5l	A	G	11: 58,346,015	Q266R	possibly damaging	Het
Slc14a2	T	C	18: 78,158,336	Y656C	probably damaging	Het
Slc26a3	T	A	12: 31,448,843		probably null	Het
Slc3a2	G	T	19: 8,708,230	H168Q	probably benign	Het
Smarca2	A	T	19: 26,649,122	I449L	probably benign	Het
Smarcc1	T	C	9: 110,196,367	V704A	possibly damaging	Het
Sox13	A	G	1: 133,386,183		probably null	Het
Sptbn5	T	C	2: 120,072,504	E7G	probably damaging	Het
Stard10	A	G	7: 101,321,903	D26G	probably damaging	Het
Tap1	A	T	17: 34,192,894	R91*	probably null	Het
Tgfbrap1	A	T	1: 43,059,937	V239D	possibly damaging	Het
Tmem209	A	T	6: 30,497,923	Y124*	probably null	Het
Tmprss2	T	A	16: 97,568,983	E327V	possibly damaging	Het
Ttbk1	T	C	17: 46,479,207	Y104C	probably damaging	Het
Ttll10	A	T	4: 156,045,391	F154I	probably damaging	Het
Ubn2	T	A	6: 38,461,477	Y40*	probably null	Het
Ubr5	A	T	15: 38,002,233	S1519T	probably benign	Het
Ugt3a1	A	C	15: 9,306,344	D193A	probably damaging	Het
Upf1	A	T	8: 70,352,978	Y6N	probably damaging	Het
Vmn2r103	A	T	17: 19,794,939	D447V	probably benign	Het
Vps39	T	C	2: 120,325,236	N519S	possibly damaging	Het
Zfp109	T	C	7: 24,229,570	E138G	possibly damaging	Het
Znrf3	A	C	11: 5,286,239	V157G	possibly damaging	Het

Other mutations in Fam20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Fam20a	APN	11	109677762	splice site	probably benign
IGL01296:Fam20a	APN	11	109685351	missense	possibly damaging	0.93
IGL01319:Fam20a	APN	11	109678458	splice site	probably benign
IGL01322:Fam20a	APN	11	109682912	missense	probably damaging	1.00
IGL02086:Fam20a	APN	11	109673413	missense	probably benign	0.00
IGL02563:Fam20a	APN	11	109677794	missense	possibly damaging	0.53
IGL02883:Fam20a	APN	11	109675127	missense	probably damaging	0.99
IGL02893:Fam20a	APN	11	109721588	missense	probably benign	0.00
Infamy	UTSW	11	109673342	missense	possibly damaging	0.87
snide	UTSW	11	109721375	missense	possibly damaging	0.92
ungainly	UTSW	11	109682870	nonsense	probably null
P0026:Fam20a	UTSW	11	109675841	critical splice donor site	probably null
R0726:Fam20a	UTSW	11	109677194	missense	probably damaging	1.00
R1317:Fam20a	UTSW	11	109677838	missense	probably damaging	0.99
R1462:Fam20a	UTSW	11	109677317	missense	probably damaging	1.00
R1462:Fam20a	UTSW	11	109677317	missense	probably damaging	1.00
R1751:Fam20a	UTSW	11	109677838	missense	probably damaging	0.99
R1761:Fam20a	UTSW	11	109677838	missense	probably damaging	0.99
R1889:Fam20a	UTSW	11	109673554	missense	probably benign	0.30
R1895:Fam20a	UTSW	11	109673554	missense	probably benign	0.30
R1971:Fam20a	UTSW	11	109685411	missense	probably damaging	1.00
R2192:Fam20a	UTSW	11	109674623	missense	probably benign	0.13
R3745:Fam20a	UTSW	11	109677790	missense	probably benign	0.17
R4684:Fam20a	UTSW	11	109721687	missense	unknown
R4835:Fam20a	UTSW	11	109673563	missense	probably benign	0.40
R5045:Fam20a	UTSW	11	109677885	missense	probably benign	0.38
R5161:Fam20a	UTSW	11	109673370	missense	probably benign	0.00
R5817:Fam20a	UTSW	11	109673418	missense	possibly damaging	0.81
R5960:Fam20a	UTSW	11	109675969	intron	probably benign
R6162:Fam20a	UTSW	11	109682870	nonsense	probably null
R6312:Fam20a	UTSW	11	109674630	missense	probably damaging	1.00
R7231:Fam20a	UTSW	11	109721375	missense	possibly damaging	0.92
R7311:Fam20a	UTSW	11	109674628	nonsense	probably null
R7366:Fam20a	UTSW	11	109673342	missense	possibly damaging	0.87
R8013:Fam20a	UTSW	11	109685506	missense	possibly damaging	0.92
R8014:Fam20a	UTSW	11	109685506	missense	possibly damaging	0.92
R9086:Fam20a	UTSW	11	109675928	nonsense	probably null
R9751:Fam20a	UTSW	11	109675166	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATACTGCCACTCTCCAAGTTC -3'
(R):5'- CTCCGAACGCAGGAAACTTG -3'

Sequencing Primer
(F):5'- CAAGTTCTCTCCAAAGGTCTGGG -3'
(R):5'- GATAGTGCCTATACAAAGCCTGCTTC -3'

Posted On

2017-01-03