Mutagenetix > Incidental Mutation

Incidental Mutation 'R4427:Evi2'

328243

Institutional Source

Beutler Lab

Gene Symbol

Evi2

Ensembl Gene

ENSMUSG00000070354

Gene Name

ecotropic viral integration site 2

Synonyms

Gm21975

MMRRC Submission

041145-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R4427 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79404211-79421415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79407182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 131 (Q131L)

Ref Sequence

ENSEMBL: ENSMUSP00000136153 (fasta)

Gene Model

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

AlphaFold

Q8VD58

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

possibly damaging
Transcript: ENSMUST00000170422
AA Change: Q131L

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128569
Gene: ENSMUSG00000070354
AA Change: Q131L

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

possibly damaging
Transcript: ENSMUST00000179322
AA Change: Q131L

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136153
Gene: ENSMUSG00000093938
AA Change: Q131L

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

Meta Mutation Damage Score

0.0977

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (48/50)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,278,678 (GRCm39)		noncoding transcript	Het
A2ml1	T	C	6: 128,522,009 (GRCm39)	E1271G	probably benign	Het
Ccdc88b	C	T	19: 6,827,940 (GRCm39)	E878K	probably damaging	Het
Cfap119	A	G	7: 127,187,288 (GRCm39)		probably benign	Het
Crybg3	T	C	16: 59,363,562 (GRCm39)	K2441E	probably damaging	Het
Cryga	A	T	1: 65,139,775 (GRCm39)	I121N	probably damaging	Het
Dst	A	T	1: 34,220,541 (GRCm39)	Q2115L	probably benign	Het
Exoc1	A	G	5: 76,711,110 (GRCm39)	I61V	probably benign	Het
Firrm	A	G	1: 163,781,853 (GRCm39)	V858A	probably benign	Het
Frem2	A	G	3: 53,446,583 (GRCm39)		probably null	Het
Gas2l1	A	G	11: 5,013,908 (GRCm39)	V184A	probably benign	Het
Gsto2	T	C	19: 47,860,212 (GRCm39)	S2P	possibly damaging	Het
Herc1	T	C	9: 66,403,287 (GRCm39)	L4402P	probably damaging	Het
Kcnd2	T	A	6: 21,216,896 (GRCm39)	I200N	probably damaging	Het
Klhl30	A	G	1: 91,281,426 (GRCm39)	D9G	probably damaging	Het
Ltf	C	A	9: 110,852,672 (GRCm39)	T178K	probably damaging	Het
Memo1	T	A	17: 74,509,302 (GRCm39)	Y239F	probably benign	Het
Ogdh	C	T	11: 6,305,421 (GRCm39)	T972I	probably benign	Het
Phactr4	T	C	4: 132,114,352 (GRCm39)	D24G	possibly damaging	Het
Pi4ka	C	T	16: 17,098,908 (GRCm39)	R1992H	probably damaging	Het
Poc1b	T	C	10: 98,991,001 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,892,150 (GRCm39)	R188S	possibly damaging	Het
Pwwp2a	T	C	11: 43,573,344 (GRCm39)	V142A	possibly damaging	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rcsd1	C	A	1: 165,483,464 (GRCm39)	V206L	probably damaging	Het
Rps6ka2	T	A	17: 7,566,804 (GRCm39)	D687E	possibly damaging	Het
Sgce	G	A	6: 4,691,459 (GRCm39)	A295V	probably damaging	Het
Siglec15	T	G	18: 78,086,836 (GRCm39)	E341A	possibly damaging	Het
Tcaim	T	C	9: 122,643,561 (GRCm39)	F87S	probably benign	Het
Thbs2	C	A	17: 14,900,597 (GRCm39)	V537L	probably benign	Het
Timd6	T	A	11: 46,475,247 (GRCm39)	F147L	probably benign	Het
Tmx3	T	A	18: 90,541,725 (GRCm39)	V158D	probably damaging	Het
Tpm1	A	G	9: 66,939,847 (GRCm39)		probably benign	Het
Trmt2a	A	G	16: 18,067,093 (GRCm39)		probably benign	Het
Ugcg	T	A	4: 59,219,555 (GRCm39)	F297L	probably benign	Het
Utp18	T	C	11: 93,757,264 (GRCm39)	N467D	probably damaging	Het
Vmn2r73	A	G	7: 85,506,981 (GRCm39)	F777S	probably damaging	Het
Vwc2	A	G	11: 11,104,235 (GRCm39)	T256A	probably damaging	Het
Zfp300	C	T	X: 20,949,405 (GRCm39)	V120I	possibly damaging	Het
Zfp982	A	T	4: 147,597,080 (GRCm39)	R146*	probably null	Het

Other mutations in Evi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1540:Evi2	UTSW	11	79,406,412 (GRCm39)	missense	probably benign	0.05
R1570:Evi2	UTSW	11	79,407,076 (GRCm39)	missense	possibly damaging	0.55
R3862:Evi2	UTSW	11	79,406,472 (GRCm39)	missense	probably benign	0.01
R3863:Evi2	UTSW	11	79,406,472 (GRCm39)	missense	probably benign	0.01
R3864:Evi2	UTSW	11	79,406,472 (GRCm39)	missense	probably benign	0.01
R4796:Evi2	UTSW	11	79,406,273 (GRCm39)	intron	probably benign
R6342:Evi2	UTSW	11	79,406,784 (GRCm39)	missense	probably benign	0.01
R7391:Evi2	UTSW	11	79,406,493 (GRCm39)	missense	probably benign
R8477:Evi2	UTSW	11	79,406,891 (GRCm39)	missense	probably benign	0.00
R8481:Evi2	UTSW	11	79,406,288 (GRCm39)	intron	probably benign
R9711:Evi2	UTSW	11	79,406,971 (GRCm39)	missense	possibly damaging	0.68
R9718:Evi2	UTSW	11	79,406,583 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATGAGCAGTTCCTTTGCCAC -3'
(R):5'- CTTCTGGACAGCAAGCATCACC -3'

Sequencing Primer
(F):5'- GCAGTTCCTTTGCCACTTGGTG -3'
(R):5'- TCACCTGCCCAAATCACTCCTG -3'

Posted On

2015-07-07