Mutagenetix > Incidental Mutation

Incidental Mutation 'R7621:Fam189a2'

589170

Institutional Source

Beutler Lab

Gene Symbol

Fam189a2

Ensembl Gene

ENSMUSG00000071604

Gene Name

family with sequence similarity 189, member A2

Synonyms

LOC381217

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7621 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23972751-24031019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 23994804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 179 (S179A)

Ref Sequence

ENSEMBL: ENSMUSP00000093878 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096164
AA Change: S179A

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: S179A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	G	A	7: 140,296,829	G711D	probably damaging	Het
Abca9	T	A	11: 110,160,533	K112N	probably benign	Het
Brwd1	A	G	16: 96,064,887	S232P	probably damaging	Het
Calm5	A	T	13: 3,854,629	M108L	possibly damaging	Het
Ces1g	A	T	8: 93,328,466	V201D	probably damaging	Het
Cltc	C	A	11: 86,707,486	V1017L	probably benign	Het
Cpt1c	C	T	7: 44,967,092	R245Q	probably damaging	Het
Csrnp1	C	A	9: 119,977,092	A39S	probably benign	Het
Elf1	A	G	14: 79,570,882	D258G	possibly damaging	Het
Glipr1l1	A	T	10: 112,060,395	D29V	probably benign	Het
Gm4340	T	C	10: 104,195,959	V188A	probably benign	Het
Gsdma2	T	C	11: 98,649,549	M98T	probably benign	Het
Hars	A	T	18: 36,770,423	D315E	probably benign	Het
Hsph1	A	C	5: 149,632,075	Y89D	probably damaging	Het
Ighv11-2	T	A	12: 114,048,388	D69V	probably benign	Het
Kirrel	C	T	3: 87,088,221	G438D	possibly damaging	Het
Krt6a	G	T	15: 101,691,752	T355K	possibly damaging	Het
Lce1m	T	C	3: 93,017,870		probably null	Het
Lmbrd1	A	T	1: 24,728,544		probably null	Het
Lmtk3	A	G	7: 45,793,417	E508G	probably damaging	Het
Lrrc2	G	A	9: 110,980,831	V312I	probably benign	Het
Lyn	A	T	4: 3,789,834	K477*	probably null	Het
Nfe2l2	T	C	2: 75,679,413	D21G	probably damaging	Het
Olfr1316	T	C	2: 112,130,581	T77A	probably benign	Het
Olfr297	G	A	7: 86,527,072	C105Y	probably benign	Het
Olfr543	G	A	7: 102,477,265	R202C	possibly damaging	Het
Olfr893	T	C	9: 38,209,151	F31L	probably benign	Het
Pkm	T	A	9: 59,678,158	C474*	probably null	Het
Prr36	T	A	8: 4,213,150	I839F	unknown	Het
Qtrt2	A	G	16: 43,868,940		probably null	Het
Ripk4	A	T	16: 97,745,925	V379E	probably damaging	Het
Rreb1	C	A	13: 37,949,066	P304Q		Het
Saxo2	A	T	7: 82,648,417	C5S	possibly damaging	Het
Sema5a	C	A	15: 32,609,232	T428N	possibly damaging	Het
Setd5	C	A	6: 113,144,049	P1073Q	possibly damaging	Het
Sh2d5	T	G	4: 138,256,839	C173G	probably benign	Het
Slc4a10	T	G	2: 62,250,479	V350G	probably damaging	Het
Slco1a6	A	G	6: 142,161,017	C15R	probably damaging	Het
Smg7	A	T	1: 152,841,544	F940Y	possibly damaging	Het
Spata17	T	A	1: 187,122,636		probably null	Het
Specc1	A	G	11: 62,128,384	N603S	possibly damaging	Het
Tbc1d1	A	G	5: 64,264,330	D355G	probably damaging	Het
Thbs2	T	C	17: 14,674,164	D807G	probably benign	Het
Tmem8	C	A	17: 26,117,891	P261Q	probably benign	Het
Usp53	T	C	3: 122,961,285	T174A	probably benign	Het
Vmn2r52	A	G	7: 10,173,347	Y151H	probably benign	Het
Wdr12	G	A	1: 60,097,589		probably benign	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
R1078:Fam189a2	UTSW	19	23973575	missense	probably benign	0.01
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
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'- ATCATGGAGACCTGACCCATCC -3'
(R):5'- CCTCCTGGAAGATAATGTGTGG -3'

Sequencing Primer
(F):5'- TAACCAGGAGCTGCACCG -3'
(R):5'- CTGGAAGATAATGTGTGGCTTAAATG -3'

Posted On

2019-10-24