Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Fam189a2'

85762

Institutional Source

Beutler Lab

Gene Symbol

Fam189a2

Ensembl Gene

ENSMUSG00000071604

Gene Name

family with sequence similarity 189, member A2

Synonyms

LOC381217

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23972751-24031019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23973575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 547 (R547S)

Ref Sequence

ENSEMBL: ENSMUSP00000093878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096164]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096164
AA Change: R547S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: R547S

Domain	Start	End	E-Value	Type
Pfam:CD20	91	254	9.5e-33	PFAM
low complexity region	282	294	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	455	469	N/A	INTRINSIC
low complexity region	567	584	N/A	INTRINSIC

Meta Mutation Damage Score

0.0719

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Ctu2	T	C	8: 122,481,499	V95A	possibly damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	Het

Other mutations in Fam189a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Fam189a2	APN	19	23984722	missense	probably damaging	1.00
IGL03162:Fam189a2	APN	19	23988460	missense	probably damaging	1.00
R0285:Fam189a2	UTSW	19	23979385	splice site	probably benign
R0613:Fam189a2	UTSW	19	23986489	missense	probably damaging	1.00
R1122:Fam189a2	UTSW	19	23975392	missense	probably damaging	1.00
R1228:Fam189a2	UTSW	19	23979465	missense	probably benign	0.00
R1445:Fam189a2	UTSW	19	24021634	missense	probably damaging	1.00
R1469:Fam189a2	UTSW	19	23973606	missense	probably benign	0.01
R1469:Fam189a2	UTSW	19	23973606	missense	probably benign	0.01
R1547:Fam189a2	UTSW	19	23979701	missense	probably damaging	1.00
R1657:Fam189a2	UTSW	19	23975635	missense	probably damaging	1.00
R1710:Fam189a2	UTSW	19	23979695	missense	probably damaging	1.00
R3701:Fam189a2	UTSW	19	23979467	missense	probably benign	0.00
R4163:Fam189a2	UTSW	19	23975629	missense	probably damaging	1.00
R4163:Fam189a2	UTSW	19	23975638	missense	probably damaging	1.00
R4164:Fam189a2	UTSW	19	23975629	missense	probably damaging	1.00
R4164:Fam189a2	UTSW	19	23975638	missense	probably damaging	1.00
R4303:Fam189a2	UTSW	19	23975629	missense	probably damaging	1.00
R4303:Fam189a2	UTSW	19	23975638	missense	probably damaging	1.00
R4418:Fam189a2	UTSW	19	23979435	missense	probably benign
R4558:Fam189a2	UTSW	19	24030549	missense	probably damaging	0.99
R4559:Fam189a2	UTSW	19	24030549	missense	probably damaging	0.99
R4866:Fam189a2	UTSW	19	23975426	missense	possibly damaging	0.64
R4879:Fam189a2	UTSW	19	23975655	critical splice acceptor site	probably null
R4900:Fam189a2	UTSW	19	23975426	missense	possibly damaging	0.64
R4934:Fam189a2	UTSW	19	23973425	makesense	probably null
R5530:Fam189a2	UTSW	19	23975594	missense	probably benign	0.01
R5942:Fam189a2	UTSW	19	23986470	missense	probably damaging	1.00
R6041:Fam189a2	UTSW	19	23984829	missense	probably benign	0.41
R6207:Fam189a2	UTSW	19	23973438	missense	probably damaging	1.00
R6572:Fam189a2	UTSW	19	23984718	missense	possibly damaging	0.78
R6573:Fam189a2	UTSW	19	23988502	missense	probably damaging	1.00
R6711:Fam189a2	UTSW	19	23978099	missense	probably benign	0.02
R6952:Fam189a2	UTSW	19	23984718	missense	possibly damaging	0.78
R7621:Fam189a2	UTSW	19	23994804	missense	possibly damaging	0.68
R7968:Fam189a2	UTSW	19	23984727	missense	probably damaging	1.00
R8482:Fam189a2	UTSW	19	23988502	missense	probably damaging	1.00
R8676:Fam189a2	UTSW	19	23988494	missense	probably damaging	1.00
R8989:Fam189a2	UTSW	19	23984832	missense	probably damaging	0.99
R9090:Fam189a2	UTSW	19	23994857	missense	possibly damaging	0.95
R9271:Fam189a2	UTSW	19	23994857	missense	possibly damaging	0.95
R9687:Fam189a2	UTSW	19	23979665	missense	probably damaging	0.99
X0018:Fam189a2	UTSW	19	23975646	frame shift	probably null
X0020:Fam189a2	UTSW	19	23975646	frame shift	probably null
X0027:Fam189a2	UTSW	19	23975646	frame shift	probably null
X0065:Fam189a2	UTSW	19	23975646	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CACAGGACAGTCTCTCGAATGACAC -3'
(R):5'- GGTTAGCAGAGCTACCTGAAGCATC -3'

Sequencing Primer
(F):5'- TGACACCAATAAGGCTGTGTG -3'
(R):5'- aggtggagagtgatagaggaag -3'

Posted On

2013-11-18