Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02093:Evi2a'

279502

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Evi2a

Ensembl Gene

ENSMUSG00000078771

Gene Name

ecotropic viral integration site 2a

Synonyms

Evi2, Evi-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02093

Quality Score

Status

Chromosome

Chromosomal Location

79417386-79421435 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79418490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 40 (S40L)

Ref Sequence

ENSEMBL: ENSMUSP00000091519 (fasta)

Gene Model

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

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: S40L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091519
Gene: ENSMUSG00000070354
AA Change: S40L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103236
AA Change: S40L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099526
Gene: ENSMUSG00000078771
AA Change: S40L

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

noncoding transcript
Transcript: ENSMUST00000133148

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

unknown
Transcript: ENSMUST00000154415
AA Change: S37L

Predicted Effect

probably benign
Transcript: ENSMUST00000170799
AA Change: S40L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125936
Gene: ENSMUSG00000078771
AA Change: S40L

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,160,396 (GRCm39)	Y41F	probably benign	Het
Amigo1	T	C	3: 108,095,214 (GRCm39)	Y238H	probably benign	Het
Ankrd17	A	G	5: 90,390,822 (GRCm39)	S2283P	possibly damaging	Het
Apobec4	A	G	1: 152,632,119 (GRCm39)	H49R	possibly damaging	Het
Arhgap44	T	C	11: 64,965,360 (GRCm39)	K34R	probably damaging	Het
Arsg	A	G	11: 109,416,272 (GRCm39)	Y173C	possibly damaging	Het
Arv1	C	A	8: 125,457,617 (GRCm39)	L56M	probably damaging	Het
B3glct	A	T	5: 149,656,150 (GRCm39)	R194S	probably benign	Het
Ccdc39	T	A	3: 33,886,717 (GRCm39)	Y297F	probably benign	Het
Dnah8	A	G	17: 30,936,854 (GRCm39)	E1552G	probably damaging	Het
Dnajb9	T	C	12: 44,253,987 (GRCm39)	H140R	probably damaging	Het
Dock5	T	G	14: 68,076,992 (GRCm39)		probably benign	Het
Egr2	G	A	10: 67,375,854 (GRCm39)	G92D	probably damaging	Het
Fshr	A	G	17: 89,309,317 (GRCm39)		probably null	Het
Glce	G	A	9: 61,977,821 (GRCm39)	T21I	probably damaging	Het
Gucy2d	C	A	7: 98,092,755 (GRCm39)	S44*	probably null	Het
Heatr5a	T	C	12: 51,962,858 (GRCm39)	E1014G	possibly damaging	Het
Hnrnpll	A	T	17: 80,351,933 (GRCm39)	H337Q	probably benign	Het
Jhy	G	T	9: 40,856,163 (GRCm39)		probably null	Het
Kat5	A	T	19: 5,653,903 (GRCm39)	M427K	probably benign	Het
Lama5	G	A	2: 179,830,380 (GRCm39)	P1876S	probably damaging	Het
Lamc3	C	A	2: 31,777,667 (GRCm39)	H104Q	probably damaging	Het
Lcn5	T	C	2: 25,548,462 (GRCm39)	Y84H	probably damaging	Het
Mageb18	T	A	X: 91,163,872 (GRCm39)	K123N	probably damaging	Het
Mfhas1	T	A	8: 36,056,498 (GRCm39)	N324K	probably damaging	Het
Nagk	T	C	6: 83,776,352 (GRCm39)	F189S	probably damaging	Het
Nbas	T	A	12: 13,610,963 (GRCm39)	M2218K	probably benign	Het
Nuak2	C	A	1: 132,259,850 (GRCm39)	P543T	probably benign	Het
Or2ag17	C	T	7: 106,390,030 (GRCm39)	M59I	probably benign	Het
Or5bh3	C	T	X: 49,098,705 (GRCm39)	M136I	possibly damaging	Het
Prl8a9	T	C	13: 27,743,436 (GRCm39)	Y123C	probably damaging	Het
Rapgef5	T	C	12: 117,682,867 (GRCm39)	F220S	probably damaging	Het
Rexo4	T	C	2: 26,852,530 (GRCm39)	D135G	probably benign	Het
Slc39a10	C	T	1: 46,874,369 (GRCm39)	R311Q	probably damaging	Het
Slfn10-ps	A	T	11: 82,923,016 (GRCm39)		noncoding transcript	Het
Tfrc	A	G	16: 32,449,012 (GRCm39)	E717G	probably benign	Het
Tg	T	A	15: 66,564,223 (GRCm39)	N1141K	possibly damaging	Het
Topors	T	C	4: 40,261,467 (GRCm39)	S606G	probably damaging	Het
Usp11	A	G	X: 20,585,591 (GRCm39)	D827G	probably benign	Het
Vmn2r1	A	T	3: 64,012,130 (GRCm39)	M664L	probably benign	Het
Vmn2r14	A	T	5: 109,368,275 (GRCm39)	M239K	possibly damaging	Het
Xiap	T	C	X: 41,188,704 (GRCm39)		probably benign	Het
Zfp2	G	A	11: 50,791,831 (GRCm39)	P71S	probably benign	Het
Zhx1	T	A	15: 57,916,264 (GRCm39)	T661S	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
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
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

Posted On

2015-04-16