Mutagenetix > Incidental Mutations

Incidental Mutation 'R6342:Evi2'

513926

Institutional Source

Beutler Lab

Gene Symbol

Evi2

Ensembl Gene

ENSMUSG00000070354

Gene Name

ecotropic viral integration site 2

Synonyms

Gm21975

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R6342 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79513385-79530589 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79515958 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 264 (S264P)

Ref Sequence

ENSEMBL: ENSMUSP00000136153 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000093983] [ENSMUST00000108251] [ENSMUST00000170422] [ENSMUST00000179322]

Predicted Effect

probably benign
Transcript: ENSMUST00000071325

SMART Domains

Protein: ENSMUSP00000071289
Gene: ENSMUSG00000020716

Domain	Start	End	E-Value	Type
RasGAP	1189	1559	2.56e-151	SMART
SEC14	1585	1737	2.36e-11	SMART
low complexity region	2619	2629	N/A	INTRINSIC
low complexity region	2750	2763	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093983

SMART Domains

Protein: ENSMUSP00000091519
Gene: ENSMUSG00000070354

Domain	Start	End	E-Value	Type
Pfam:EVI2A	1	75	1.2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108251

SMART Domains

Protein: ENSMUSP00000103886
Gene: ENSMUSG00000020716

Domain	Start	End	E-Value	Type
RasGAP	1189	1538	1.23e-153	SMART
SEC14	1564	1716	2.36e-11	SMART
low complexity region	2598	2608	N/A	INTRINSIC
low complexity region	2729	2742	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170422
AA Change: S264P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000128569
Gene: ENSMUSG00000070354
AA Change: S264P

Domain	Start	End	E-Value	Type
low complexity region	139	152	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
transmembrane domain	204	226	N/A	INTRINSIC
low complexity region	334	348	N/A	INTRINSIC
low complexity region	391	396	N/A	INTRINSIC
low complexity region	425	444	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179322
AA Change: S264P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000136153
Gene: ENSMUSG00000093938
AA Change: S264P

Domain	Start	End	E-Value	Type
low complexity region	139	152	N/A	INTRINSIC
low complexity region	177	191	N/A	INTRINSIC
transmembrane domain	204	226	N/A	INTRINSIC
low complexity region	334	348	N/A	INTRINSIC
low complexity region	391	396	N/A	INTRINSIC
low complexity region	425	444	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

97% (31/32)

MGI Phenotype

FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Evi2a (ecotropic viral integration site 2a) and Evi2b (ecotropic viral integration site 2b) genes on chromosome 11. The readthrough transcript encodes a protein identical to that of the downstream gene product. [provided by RefSeq, May 2013]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa9	T	C	3: 95,296,790	*346W	probably null	Het
Ap4b1	T	C	3: 103,813,368	V118A	possibly damaging	Het
Atrnl1	T	C	19: 57,638,510	S183P	probably damaging	Het
Cadm3	T	C	1: 173,341,108	T298A	possibly damaging	Het
Crtc1	A	C	8: 70,439,557	M1R	probably null	Het
Dalrd3	A	T	9: 108,571,123	K291*	probably null	Het
Dhrs9	C	T	2: 69,393,187	T93M	probably benign	Het
Dnmt1	G	T	9: 20,909,793	S1267*	probably null	Het
Dsg1b	T	C	18: 20,390,243	I109T	probably damaging	Het
Epha3	C	A	16: 63,583,500	R745L	probably damaging	Het
Grin2a	A	T	16: 9,579,334	L963Q	probably damaging	Het
Klhdc7a	T	A	4: 139,967,059	R192S	probably benign	Het
Kynu	G	T	2: 43,681,451	D460Y	probably benign	Het
Lrfn2	G	A	17: 49,097,000	G717D	probably benign	Het
Lrp3	C	T	7: 35,202,306	D696N	probably benign	Het
Ogfrl1	T	G	1: 23,369,863	K427N	probably benign	Het
Olfr586	T	C	7: 103,122,356	T143A	probably damaging	Het
Rad17	A	T	13: 100,619,136	I579N	probably damaging	Het
Rif1	T	A	2: 52,119,156	Y2316N	probably damaging	Het
Ros1	T	A	10: 52,155,255	D430V	probably damaging	Het
Rp9	A	T	9: 22,449,858	H44Q	probably damaging	Het
Rtl1	T	C	12: 109,592,301	T1035A	possibly damaging	Het
Slc2a5	A	C	4: 150,139,526	D225A	possibly damaging	Het
Tlx3	A	T	11: 33,202,567	V176E	possibly damaging	Het
Trpv3	G	A	11: 73,283,863	G352D	probably damaging	Het
Ubr4	C	A	4: 139,429,539	H2292N	possibly damaging	Het
Wee2	A	G	6: 40,444,255	H93R	probably benign	Het
Xirp2	T	G	2: 67,511,650	L1412V	possibly damaging	Het
Zfat	T	C	15: 68,180,982	H321R	probably damaging	Het
Zfp623	C	A	15: 75,947,988	C264*	probably null	Het
Zfp687	G	C	3: 95,011,877	P195A	probably benign	Het

Other mutations in Evi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1540:Evi2	UTSW	11	79515586	missense	probably benign	0.05
R1570:Evi2	UTSW	11	79516250	missense	possibly damaging	0.55
R3862:Evi2	UTSW	11	79515646	missense	probably benign	0.01
R3863:Evi2	UTSW	11	79515646	missense	probably benign	0.01
R3864:Evi2	UTSW	11	79515646	missense	probably benign	0.01
R4427:Evi2	UTSW	11	79516356	missense	possibly damaging	0.73
R4796:Evi2	UTSW	11	79515447	intron	probably benign
R7391:Evi2	UTSW	11	79515667	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATCAGCACTGTCTTCTGATAAGC -3'
(R):5'- AGTGGCAAAGGAACTGCTC -3'

Sequencing Primer
(F):5'- CATTATCAGTCTTGAGGTTGC -3'
(R):5'- GCAATTGCTGCCATATTAATCGG -3'

Posted On

2018-04-27