Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Fam189a2'

728948

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 #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23972751-24031019 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23979665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 327 (I327T)

Ref Sequence

ENSEMBL: ENSMUSP00000093878 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000096164
AA Change: I327T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: I327T

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,948,422	L446P	probably damaging	Het
Abcc9	T	C	6: 142,633,163	T927A	probably benign	Het
Abraxas2	A	G	7: 132,880,848	T258A	probably benign	Het
Akna	A	T	4: 63,374,437	C1078*	probably null	Het
Arhgap24	T	A	5: 102,846,156	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,042	T61I	probably benign	Het
Crebrf	A	G	17: 26,763,627	*654W	probably null	Het
Dchs1	C	A	7: 105,757,984	R2134L	probably damaging	Het
Dcps	T	C	9: 35,124,682	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,610,733	E527K	probably damaging	Het
Dnah14	T	A	1: 181,598,413	M174K	probably benign	Het
Ehd1	A	G	19: 6,298,300	D436G		Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etv1	T	C	12: 38,861,362	Y396H	probably damaging	Het
Fbxo11	A	G	17: 88,009,066	I293T		Het
Gcfc2	T	A	6: 81,941,342	S338T	probably damaging	Het
Gm10272	T	C	10: 77,706,930	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,103,439	T20A	unknown	Het
Gm17359	G	A	3: 79,429,992	D36N	possibly damaging	Het
Gna14	G	A	19: 16,604,986	R206Q		Het
Gpm6a	T	C	8: 55,050,174	Y153H	possibly damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 36,814,255	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,341,021	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546	L138P	probably damaging	Het
Kif26a	A	G	12: 112,177,191	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,566,693	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,320,708	D184V		Het
Ncdn	G	A	4: 126,748,674	R397W	probably damaging	Het
Ncor1	A	T	11: 62,369,367	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,503,026	V575A	probably damaging	Het
Olfr1031	G	T	2: 85,991,876	V20L	probably benign	Het
Olfr1351	T	A	10: 79,018,009	I229N	probably damaging	Het
Olfr1387	T	C	11: 49,459,691	F4S	probably benign	Het
Osbpl5	A	G	7: 143,693,861	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,756,587	D93V	probably damaging	Het
Ppef2	T	A	5: 92,238,887	D397V	probably benign	Het
Ppfia4	G	A	1: 134,317,956	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,502,576	Y456C	probably damaging	Het
Pxk	A	G	14: 8,151,567	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622	N104K	probably benign	Het
Sars	A	G	3: 108,435,905	L90P	probably benign	Het
Scaf8	T	A	17: 3,171,135	I299N	unknown	Het
Sh3bp2	C	T	5: 34,559,633	P463S	probably benign	Het
Slc12a3	A	G	8: 94,348,580	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,790,677	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,480,900	Y35C	possibly damaging	Het
Susd4	A	G	1: 182,895,197		probably null	Het
Taar7f	G	A	10: 24,049,829	R107K	probably benign	Het
Tarm1	T	C	7: 3,495,941	T237A	probably benign	Het
Tshr	C	A	12: 91,537,665	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,825,579		probably null	Het
Unc13b	T	C	4: 43,174,920	V1916A	unknown	Het
Unc45b	A	G	11: 82,919,736	D274G	probably damaging	Het
Vmn1r230	T	A	17: 20,847,342	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,555,070	Q132K		Het
Zbtb20	A	G	16: 43,609,797	S151G	possibly damaging	Het
Zbtb22	A	C	17: 33,917,876	T332P	probably damaging	Het
Zc3h6	A	G	2: 129,017,361	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,542,352	V263A	probably benign	Het
Zhx3	A	C	2: 160,781,758	V163G	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
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
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'- ACTCCTGCATCAGAAAGGAAGG -3'
(R):5'- AGTTATTCCTCTTTGGCTGAGC -3'

Sequencing Primer
(F):5'- GGAGAAGGAGGGGTCATTGTTTTTG -3'
(R):5'- AGCTTCTGTGAGTGTCTTTCCTCTAG -3'

Posted On

2022-10-06