Mutagenetix > Incidental Mutation

Incidental Mutation 'R8788:Evi2a'

670772

Institutional Source

Beutler Lab

Gene Symbol

Evi2a

Ensembl Gene

ENSMUSG00000078771

Gene Name

ecotropic viral integration site 2a

Synonyms

Evi2, Evi-2

MMRRC Submission

068607-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8788 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79417386-79421435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79418531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 26 (R26S)

Ref Sequence

ENSEMBL: ENSMUSP00000099526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071325] [ENSMUST00000093983] [ENSMUST00000103236] [ENSMUST00000108251] [ENSMUST00000146611] [ENSMUST00000170422] [ENSMUST00000170799] [ENSMUST00000179322]

AlphaFold

P20934

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
AA Change: R26S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000091519
Gene: ENSMUSG00000070354
AA Change: R26S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103236
AA Change: R26S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000099526
Gene: ENSMUSG00000078771
AA Change: R26S

Domain	Start	End	E-Value	Type
Pfam:EVI2A	1	223	5.4e-125	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

unknown
Transcript: ENSMUST00000146611
AA Change: R53S

SMART Domains

Protein: ENSMUSP00000115683
Gene: ENSMUSG00000078771
AA Change: R53S

Domain	Start	End	E-Value	Type
Pfam:EVI2A	28	59	6.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170422

SMART Domains

Protein: ENSMUSP00000128569
Gene: ENSMUSG00000070354

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: ENSMUST00000170799
AA Change: R26S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000125936
Gene: ENSMUSG00000078771
AA Change: R26S

Domain	Start	End	E-Value	Type
Pfam:EVI2A	1	223	6.3e-107	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179322

SMART Domains

Protein: ENSMUSP00000136153
Gene: ENSMUSG00000093938

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank3	A	T	10: 69,718,256 (GRCm39)	L502F	unknown	Het
Btbd8	A	G	5: 107,618,853 (GRCm39)	*252W	probably null	Het
Btnl9	T	A	11: 49,066,614 (GRCm39)	M336L	probably benign	Het
Cd72	T	C	4: 43,450,185 (GRCm39)	E241G	probably benign	Het
Cdh23	T	A	10: 60,324,372 (GRCm39)	N296I	probably damaging	Het
Celf6	C	A	9: 59,485,750 (GRCm39)	S30R	possibly damaging	Het
Crxos	T	C	7: 15,632,499 (GRCm39)	Y102H	probably benign	Het
Csmd3	A	T	15: 47,470,513 (GRCm39)	S2477T		Het
Ezr	T	C	17: 7,021,392 (GRCm39)	M182V	probably benign	Het
Fat2	G	T	11: 55,171,929 (GRCm39)	A2928D	possibly damaging	Het
Fetub	A	T	16: 22,758,182 (GRCm39)	K322*	probably null	Het
Fscb	T	C	12: 64,518,395 (GRCm39)	T1024A	unknown	Het
Gdpd1	A	G	11: 86,950,318 (GRCm39)	V85A	probably damaging	Het
Gm38119	G	T	3: 92,645,537 (GRCm39)	P19H	unknown	Het
Gpr182	T	C	10: 127,586,529 (GRCm39)	T141A	probably benign	Het
Inpp5d	G	A	1: 87,611,484 (GRCm39)	G312D	probably damaging	Het
Kif26b	G	A	1: 178,357,090 (GRCm39)		probably benign	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Maf	T	A	8: 116,432,612 (GRCm39)	I331F	probably damaging	Het
Mark3	C	A	12: 111,613,124 (GRCm39)	S529R	probably benign	Het
Mmp10	A	G	9: 7,502,687 (GRCm39)		probably benign	Het
Mrps30	T	C	13: 118,523,538 (GRCm39)	E78G	possibly damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nhsl3	A	G	4: 129,119,743 (GRCm39)	V97A	probably benign	Het
Or4c116	T	C	2: 88,942,626 (GRCm39)	T77A	probably benign	Het
Pcdh12	G	A	18: 38,416,109 (GRCm39)	L339F	probably benign	Het
Pdgfd	A	G	9: 6,377,000 (GRCm39)	S365G	probably benign	Het
Piezo1	T	C	8: 123,228,533 (GRCm39)	M281V		Het
Prkg2	C	T	5: 99,117,839 (GRCm39)	E501K	probably damaging	Het
Recql5	T	C	11: 115,786,628 (GRCm39)	I563V	probably benign	Het
Rfx7	T	C	9: 72,524,795 (GRCm39)	S662P	probably benign	Het
Ric8a	A	G	7: 140,438,806 (GRCm39)	T252A	probably benign	Het
Sbf1	C	T	15: 89,186,062 (GRCm39)	R984H	probably damaging	Het
Sel1l3	G	T	5: 53,332,148 (GRCm39)	Y412*	probably null	Het
Slc17a6	G	A	7: 51,298,908 (GRCm39)	A224T	probably damaging	Het
Slco1a8	A	T	6: 141,933,570 (GRCm39)	V425D	probably benign	Het
Smarca4	T	C	9: 21,550,024 (GRCm39)	I378T	probably damaging	Het
Tatdn1	T	C	15: 58,762,543 (GRCm39)	*265W	probably null	Het
Tcaf2	A	G	6: 42,606,472 (GRCm39)	L494P	probably damaging	Het
Tcl1b2	T	C	12: 105,113,380 (GRCm39)	L11P	probably benign	Het
Thrb	A	G	14: 18,002,558 (GRCm38)	E119G	probably damaging	Het
Tll2	T	C	19: 41,109,814 (GRCm39)	T317A	probably benign	Het
Tob2	AGATGATGA	AGATGA	15: 81,735,928 (GRCm39)		probably benign	Het
Upk1b	A	G	16: 38,607,463 (GRCm39)	L88P	probably damaging	Het
Uri1	T	C	7: 37,661,003 (GRCm39)	I30V		Het
Ush2a	A	T	1: 188,475,816 (GRCm39)	R2918*	probably null	Het
Vax1	T	C	19: 59,158,247 (GRCm39)	D72G	unknown	Het
Vmn2r38	C	A	7: 9,078,482 (GRCm39)	M633I	probably benign	Het
Vmn2r95	A	G	17: 18,671,790 (GRCm39)	D581G	probably benign	Het
Vps13d	A	G	4: 144,813,305 (GRCm39)	F3324L		Het
Xrcc6	C	T	15: 81,911,583 (GRCm39)	L309F	probably damaging	Het
Xrra1	A	G	7: 99,555,761 (GRCm39)	Y376C	probably benign	Het
Zfp329	T	C	7: 12,544,490 (GRCm39)	T345A	possibly damaging	Het
Zfp574	T	A	7: 24,779,816 (GRCm39)	N279K	unknown	Het
Zfp804b	T	C	5: 6,822,635 (GRCm39)	M143V	probably benign	Het

Other mutations in Evi2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01612:Evi2a	APN	11	79,417,978 (GRCm39)	missense	probably damaging	1.00
IGL02093:Evi2a	APN	11	79,418,490 (GRCm39)	missense	probably benign	0.43
R1440:Evi2a	UTSW	11	79,418,096 (GRCm39)	missense	probably damaging	1.00
R1474:Evi2a	UTSW	11	79,418,398 (GRCm39)	missense	probably benign	0.21
R2062:Evi2a	UTSW	11	79,418,593 (GRCm39)	nonsense	probably null
R5135:Evi2a	UTSW	11	79,418,277 (GRCm39)	missense	possibly damaging	0.70
R7282:Evi2a	UTSW	11	79,418,249 (GRCm39)	missense	probably benign	0.43
R7788:Evi2a	UTSW	11	79,418,768 (GRCm39)	missense	unknown
R7827:Evi2a	UTSW	11	79,418,688 (GRCm39)	unclassified	probably benign
R7859:Evi2a	UTSW	11	79,418,452 (GRCm39)	missense	probably benign	0.00
R8276:Evi2a	UTSW	11	79,418,316 (GRCm39)	missense	probably damaging	1.00
R9430:Evi2a	UTSW	11	79,418,523 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACTGTTTCTGAAGGCATGGG -3'
(R):5'- CAAGTGCAGCCTGTTAACAAC -3'

Sequencing Primer
(F):5'- ACTTGAGTGTAGATGTGGAAGC -3'
(R):5'- GTGCAGCCTGTTAACAACAATTACTC -3'

Posted On

2021-04-30