Mutagenetix > Incidental Mutation

Incidental Mutation 'R0584:Fam209'

56546

Institutional Source

Beutler Lab

Gene Symbol

Fam209

Ensembl Gene

ENSMUSG00000027505

Gene Name

family with sequence similarity 209

Synonyms

1700029J11Rik

MMRRC Submission

038774-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0584 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

172314474-172316236 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 172316081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 152 (T152M)

Ref Sequence

ENSEMBL: ENSMUSP00000029007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029005] [ENSMUST00000029007]

AlphaFold

A2APA5

Predicted Effect

probably benign
Transcript: ENSMUST00000029005

SMART Domains

Protein: ENSMUSP00000029005
Gene: ENSMUSG00000027502

Domain	Start	End	E-Value	Type
Pfam:Rtf2	1	290	1.5e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029007
AA Change: T152M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029007
Gene: ENSMUSG00000027505
AA Change: T152M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:FAM209	21	168	9.1e-78	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140048

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.2%
20x: 93.7%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,847,564 (GRCm39)	S1745P	probably damaging	Het
Agfg2	G	A	5: 137,665,992 (GRCm39)	T89I	probably damaging	Het
Agtr1a	A	G	13: 30,565,017 (GRCm39)	I27M	probably damaging	Het
Armh1	A	T	4: 117,087,047 (GRCm39)	L206Q	probably damaging	Het
Asxl2	A	T	12: 3,546,632 (GRCm39)	E472V	probably damaging	Het
Atp2c2	T	A	8: 120,465,157 (GRCm39)	V313E	probably benign	Het
Casp12	A	G	9: 5,352,268 (GRCm39)	I87V	probably null	Het
Ccl25	C	T	8: 4,404,085 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,263,571 (GRCm39)		probably benign	Het
Cyth4	A	G	15: 78,494,078 (GRCm39)		probably null	Het
Dnah9	A	G	11: 65,881,315 (GRCm39)	Y2587H	probably damaging	Het
Dppa3	T	C	6: 122,606,951 (GRCm39)	I147T	probably benign	Het
Fam120b	T	C	17: 15,622,384 (GRCm39)	S121P	probably damaging	Het
Fam98a	A	G	17: 75,851,772 (GRCm39)	L103P	probably damaging	Het
Fcho1	T	C	8: 72,168,369 (GRCm39)	Y218C	probably damaging	Het
Fitm1	T	C	14: 55,814,113 (GRCm39)	V203A	probably benign	Het
Gcn1	G	A	5: 115,733,074 (GRCm39)	R1037Q	probably damaging	Het
Gm11563	A	G	11: 99,549,451 (GRCm39)	I101T	unknown	Het
Gpd1l	A	G	9: 114,743,412 (GRCm39)	F163L	probably damaging	Het
Grp	C	A	18: 66,006,766 (GRCm39)	A30E	possibly damaging	Het
H1f7	C	A	15: 98,154,958 (GRCm39)	E64*	probably null	Het
Icosl	T	C	10: 77,907,709 (GRCm39)	Y90H	possibly damaging	Het
Itsn2	A	G	12: 4,747,180 (GRCm39)	T1194A	probably benign	Het
Lrp6	A	G	6: 134,433,039 (GRCm39)	S1431P	probably damaging	Het
Ltbp1	T	C	17: 75,670,467 (GRCm39)	S1503P	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Myh13	G	T	11: 67,251,200 (GRCm39)	E1360*	probably null	Het
Nop58	A	G	1: 59,745,919 (GRCm39)	D400G	probably benign	Het
Or5p79	T	C	7: 108,221,622 (GRCm39)	L201P	probably benign	Het
Or6c205	T	C	10: 129,086,817 (GRCm39)	V138A	probably benign	Het
Oscp1	A	G	4: 125,977,387 (GRCm39)		probably null	Het
Pde9a	A	T	17: 31,678,951 (GRCm39)	Y264F	probably damaging	Het
Pkhd1	T	A	1: 20,309,660 (GRCm39)	K2763*	probably null	Het
Prkci	T	A	3: 31,079,289 (GRCm39)	C42*	probably null	Het
Ptprr	T	C	10: 116,087,063 (GRCm39)	V270A	probably damaging	Het
Rsf1	T	A	7: 97,311,335 (GRCm39)	N688K	possibly damaging	Het
S1pr3	A	T	13: 51,573,697 (GRCm39)	M293L	probably benign	Het
Scn10a	A	C	9: 119,499,597 (GRCm39)	L232R	probably damaging	Het
Sirt5	T	A	13: 43,548,204 (GRCm39)		probably null	Het
Sp6	C	T	11: 96,913,091 (GRCm39)	T268M	probably damaging	Het
Spag5	A	G	11: 78,194,921 (GRCm39)	N76S	possibly damaging	Het
Tecta	T	C	9: 42,259,204 (GRCm39)	N1560D	possibly damaging	Het
Togaram1	T	C	12: 65,014,279 (GRCm39)	L510P	probably damaging	Het
Umps	A	G	16: 33,779,494 (GRCm39)	I401T	probably damaging	Het
Vars2	A	G	17: 35,977,578 (GRCm39)	V118A	possibly damaging	Het

Other mutations in Fam209

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Fam209	APN	2	172,316,102 (GRCm39)	missense	probably damaging	1.00
R0147:Fam209	UTSW	2	172,315,900 (GRCm39)	missense	probably damaging	0.99
R0148:Fam209	UTSW	2	172,315,900 (GRCm39)	missense	probably damaging	0.99
R0558:Fam209	UTSW	2	172,314,758 (GRCm39)	missense	probably benign	0.01
R0615:Fam209	UTSW	2	172,316,053 (GRCm39)	missense	probably benign
R0882:Fam209	UTSW	2	172,314,555 (GRCm39)	missense	probably benign
R2001:Fam209	UTSW	2	172,314,689 (GRCm39)	missense	probably benign	0.09
R2002:Fam209	UTSW	2	172,314,689 (GRCm39)	missense	probably benign	0.09
R3725:Fam209	UTSW	2	172,315,915 (GRCm39)	missense	probably benign	0.02
R3726:Fam209	UTSW	2	172,315,915 (GRCm39)	missense	probably benign	0.02
R3892:Fam209	UTSW	2	172,314,618 (GRCm39)	missense	probably damaging	0.98
R6697:Fam209	UTSW	2	172,316,123 (GRCm39)	missense	probably damaging	1.00
R7051:Fam209	UTSW	2	172,315,969 (GRCm39)	missense	probably damaging	0.97
R7052:Fam209	UTSW	2	172,314,751 (GRCm39)	missense	possibly damaging	0.82
R8160:Fam209	UTSW	2	172,314,645 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CCACTGGAATACTTCACCCGGAATC -3'
(R):5'- TGCGTGCCTGTACTTCCAAGTC -3'

Sequencing Primer
(F):5'- ATCTCTCTCTCGACAGGAGCAG -3'
(R):5'- acaaacaaacaaacaaacaaacaaac -3'

Posted On

2013-07-11