Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02650:Gm3252'

302095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm3252

Ensembl Gene

ENSMUSG00000094628

Gene Name

predicted gene 3252

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02650

Quality Score

Status

Chromosome

Chromosomal Location

4726775-4747493 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4746353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 215 (V215E)

Ref Sequence

ENSEMBL: ENSMUSP00000129533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165619] [ENSMUST00000178748]

AlphaFold

E9PUT9

Predicted Effect

probably damaging
Transcript: ENSMUST00000165619
AA Change: V215E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129533
Gene: ENSMUSG00000094628
AA Change: V215E

Domain	Start	End	E-Value	Type
Pfam:Takusan	57	140	2e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178748

SMART Domains

Protein: ENSMUSP00000137178
Gene: ENSMUSG00000094628

Domain	Start	End	E-Value	Type
Pfam:Takusan	1	74	1.9e-27	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,741,537	T586A	probably benign	Het
Acads	G	T	5: 115,112,815	T141N	probably benign	Het
Ankmy1	C	T	1: 92,881,023	R721H	probably damaging	Het
Appl1	A	G	14: 26,950,708	V236A	possibly damaging	Het
Arhgef5	C	T	6: 43,272,935	Q207*	probably null	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp6v0a2	G	T	5: 124,712,362		probably benign	Het
Cenpf	T	C	1: 189,652,473	K2537E	possibly damaging	Het
Cox7a1	A	T	7: 30,185,137	E32V	possibly damaging	Het
Dis3	A	T	14: 99,098,785	M95K	probably benign	Het
Dnah5	A	T	15: 28,289,047		probably benign	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Ghsr	A	T	3: 27,374,855	Q343L	probably benign	Het
Gm9979	A	G	13: 40,705,749		noncoding transcript	Het
Grik2	A	T	10: 49,101,235	M867K	probably benign	Het
Grm7	A	G	6: 111,358,958	T777A	probably damaging	Het
Hc	T	A	2: 35,000,874	Q1310L	possibly damaging	Het
Ifi44	A	G	3: 151,745,855	F205L	probably damaging	Het
Igkv4-86	T	C	6: 68,910,633	I40V	probably benign	Het
Jag1	T	C	2: 137,115,585	D69G	possibly damaging	Het
Lrch1	T	C	14: 74,813,698	D333G	probably damaging	Het
Mapre3	T	A	5: 30,864,709	I187N	probably damaging	Het
Myo15b	T	C	11: 115,886,511		probably null	Het
Nanos2	C	T	7: 18,987,869	P89S	probably damaging	Het
Olfr1214	T	A	2: 88,988,080	M41L	probably benign	Het
Parp16	G	A	9: 65,233,816	V223I	probably damaging	Het
Rnf123	A	G	9: 108,069,748	M231T	probably benign	Het
Suco	C	A	1: 161,848,753		probably benign	Het
Synj1	G	T	16: 90,976,696	T459N	probably benign	Het
Taf4b	C	T	18: 14,841,983	Q732*	probably null	Het
Tas2r102	A	G	6: 132,762,210	N27S	probably null	Het
Tctex1d1	C	A	4: 102,988,606	Q12K	probably benign	Het
Tll1	C	T	8: 64,046,997		probably benign	Het
Vmn1r168	A	G	7: 23,541,491	I258V	probably benign	Het
Vmn2r71	T	A	7: 85,624,327	M783K	probably damaging	Het
Vmn2r98	G	A	17: 19,080,961	V742I	probably benign	Het

Other mutations in Gm3252

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02226:Gm3252	APN	14	4743741	missense	possibly damaging	0.95
R8783:Gm3252	UTSW	14	4743761	missense	probably benign

Posted On

2015-04-16