Mutagenetix > Incidental Mutation

Incidental Mutation 'R8276:Evi2a'

637988

Institutional Source

Beutler Lab

Gene Symbol

Evi2a

Ensembl Gene

ENSMUSG00000078771

Gene Name

ecotropic viral integration site 2a

Synonyms

Evi2, Evi-2

MMRRC Submission

067699-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8276 (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 79418316 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 98 (N98I)

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

SMART Domains

Protein: ENSMUSP00000091519
Gene: ENSMUSG00000070354

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103236
AA Change: N98I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000099526
Gene: ENSMUSG00000078771
AA Change: N98I

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

probably benign
Transcript: ENSMUST00000146611

SMART Domains

Protein: ENSMUSP00000115683
Gene: ENSMUSG00000078771

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154415

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 damaging
Transcript: ENSMUST00000170799
AA Change: N98I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125936
Gene: ENSMUSG00000078771
AA Change: N98I

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: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,385,885 (GRCm39)	R27W	probably damaging	Het
Acbd5	A	G	2: 22,959,563 (GRCm39)	D39G	probably benign	Het
Amdhd2	C	G	17: 24,382,574 (GRCm39)	R22P	probably damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Cyld	A	G	8: 89,461,556 (GRCm39)	I664M	probably benign	Het
Dnajc10	T	C	2: 80,179,614 (GRCm39)	M716T	probably benign	Het
Dock10	T	A	1: 80,505,998 (GRCm39)	T1743S	probably benign	Het
Dop1a	T	C	9: 86,399,092 (GRCm39)	S947P	probably benign	Het
Ep300	C	G	15: 81,534,229 (GRCm39)	N2095K	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Far2	G	T	6: 148,075,399 (GRCm39)	V420L	probably benign	Het
Gng5	A	G	3: 146,206,258 (GRCm39)		probably benign	Het
Heatr5b	G	A	17: 79,098,968 (GRCm39)	R1311*	probably null	Het
Hhipl2	A	T	1: 183,217,328 (GRCm39)	K478M	possibly damaging	Het
Hs3st1	A	T	5: 39,772,146 (GRCm39)	Y166N	probably damaging	Het
Jcad	T	A	18: 4,674,318 (GRCm39)	S693R	probably damaging	Het
Kcnmb3	A	G	3: 32,536,572 (GRCm39)	L52P	probably damaging	Het
Mib1	T	C	18: 10,751,880 (GRCm39)	I254T	possibly damaging	Het
Myo18b	T	C	5: 112,943,273 (GRCm39)	K1644R	possibly damaging	Het
Nherf2	G	T	17: 24,861,234 (GRCm39)	Y175*	probably null	Het
Nlrp2	G	A	7: 5,320,494 (GRCm39)	T881M	probably benign	Het
Or11h23	T	A	14: 50,948,287 (GRCm39)	S167T	probably benign	Het
Or52h9	A	T	7: 104,202,522 (GRCm39)	Y132F	probably damaging	Het
Pkd1l3	A	C	8: 110,397,353 (GRCm39)	*2152C	probably null	Het
Polr2a	G	A	11: 69,638,882 (GRCm39)	R51C	probably damaging	Het
Ptpru	C	T	4: 131,506,484 (GRCm39)	G1026D	probably damaging	Het
Rbm46	A	G	3: 82,771,895 (GRCm39)	V240A	probably damaging	Het
Rrm1	G	A	7: 102,110,059 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,470,962 (GRCm39)	D4637G	probably damaging	Het
Selenos	G	A	7: 65,729,552 (GRCm39)		probably benign	Het
Serpina1e	G	T	12: 103,913,428 (GRCm39)	T364K	probably damaging	Het
Shroom3	A	T	5: 93,088,339 (GRCm39)	Q363L	probably damaging	Het
Slc9b1	A	C	3: 135,077,658 (GRCm39)	E139D	possibly damaging	Het
Tjp1	A	T	7: 64,993,544 (GRCm39)		probably benign	Het
Tmcc3	A	T	10: 94,418,170 (GRCm39)	T344S	probably damaging	Het
Tnrc6b	T	A	15: 80,764,918 (GRCm39)	S807T	probably benign	Het
Trav7-6	A	T	14: 53,954,695 (GRCm39)	H95L	probably benign	Het
Trmu	T	A	15: 85,766,932 (GRCm39)	V47D	possibly damaging	Het
Uba6	C	A	5: 86,290,509 (GRCm39)		probably benign	Het
Unc79	A	G	12: 102,968,122 (GRCm39)	D116G	possibly damaging	Het
Vmn2r93	G	A	17: 18,525,649 (GRCm39)		probably null	Het
Zfp541	A	T	7: 15,813,009 (GRCm39)	H554L	possibly damaging	Het
Zfp618	A	G	4: 63,051,193 (GRCm39)	H658R	probably damaging	Het
Zmym1	A	T	4: 126,948,051 (GRCm39)	Y107N	probably damaging	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
R8788:Evi2a	UTSW	11	79,418,531 (GRCm39)	missense	probably benign	0.01
R9430:Evi2a	UTSW	11	79,418,523 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CAGAAAGTCACCGTTGCTCC -3'
(R):5'- TCCAGTAATCAGAATGGCTCCAG -3'

Sequencing Primer
(F):5'- CTTTGACCTTTTGAGAGATGAGAC -3'
(R):5'- TCCAGCAGACATCCGAGTG -3'

Posted On

2020-07-28