Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02026:Evi2b'

184175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Evi2b

Ensembl Gene

ENSMUSG00000093938

Gene Name

ecotropic viral integration site 2b

Synonyms

Evi2

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

79405882-79414588 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79406613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 321 (S321G)

Ref Sequence

ENSEMBL: ENSMUSP00000136153 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 damaging
Transcript: ENSMUST00000170422
AA Change: S321G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128569
Gene: ENSMUSG00000070354
AA Change: S321G

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: ENSMUST00000179322
AA Change: S321G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136153
Gene: ENSMUSG00000093938
AA Change: S321G

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,809,251 (GRCm39)	V237E	possibly damaging	Het
Amh	T	C	10: 80,641,242 (GRCm39)	L54P	probably damaging	Het
Aoc3	T	C	11: 101,228,421 (GRCm39)	S743P	probably benign	Het
Arhgap23	T	A	11: 97,342,407 (GRCm39)	W19R	probably damaging	Het
Atm	C	T	9: 53,353,717 (GRCm39)		probably null	Het
Ccdc47	T	C	11: 106,095,853 (GRCm39)	E281G	probably damaging	Het
Col7a1	A	C	9: 108,797,097 (GRCm39)	K1650N	probably damaging	Het
Cstdc5	C	A	16: 36,187,848 (GRCm39)	V6F	possibly damaging	Het
Fancm	T	G	12: 65,152,508 (GRCm39)	V988G	probably benign	Het
Gbp2	A	G	3: 142,339,241 (GRCm39)	Y431C	probably damaging	Het
Gclc	T	C	9: 77,699,342 (GRCm39)	V530A	probably benign	Het
Gm5885	T	C	6: 133,508,291 (GRCm39)		noncoding transcript	Het
Hlcs	A	T	16: 93,935,564 (GRCm39)	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,444,587 (GRCm39)	F240L	probably damaging	Het
Itgb6	C	A	2: 60,458,410 (GRCm39)	V448F	possibly damaging	Het
Lama1	A	G	17: 68,116,287 (GRCm39)	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,020,482 (GRCm39)		probably benign	Het
Lrrc32	C	T	7: 98,148,767 (GRCm39)	R516C	probably benign	Het
Lrrtm3	T	C	10: 63,924,231 (GRCm39)	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,026,842 (GRCm39)	R468*	probably null	Het
Man1a	T	C	10: 53,890,569 (GRCm39)	E373G	probably damaging	Het
Myo1h	A	T	5: 114,461,505 (GRCm39)	Q250L	probably null	Het
Myo9a	T	C	9: 59,813,245 (GRCm39)	V2077A	probably damaging	Het
Or14j3	A	G	17: 37,900,298 (GRCm39)		probably benign	Het
Otud5	C	T	X: 7,738,232 (GRCm39)		probably benign	Het
Pcsk1	A	G	13: 75,260,772 (GRCm39)	S332G	probably benign	Het
Pde8b	A	G	13: 95,170,869 (GRCm39)	V549A	probably damaging	Het
Pgap1	A	T	1: 54,533,978 (GRCm39)	M645K	probably benign	Het
Pm20d1	A	T	1: 131,729,497 (GRCm39)	R175*	probably null	Het
Polr2b	A	G	5: 77,480,099 (GRCm39)	N585S	probably benign	Het
Recql	T	A	6: 142,312,394 (GRCm39)	K41*	probably null	Het
Sccpdh	A	T	1: 179,505,634 (GRCm39)	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,517,485 (GRCm39)	S951T	probably benign	Het
Slc44a4	A	T	17: 35,140,832 (GRCm39)		probably benign	Het
Tchhl1	G	T	3: 93,377,862 (GRCm39)	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,203,658 (GRCm39)		probably benign	Het
Tesl2	T	G	X: 23,824,233 (GRCm39)	H314P	probably damaging	Het
Trbv12-1	A	G	6: 41,090,928 (GRCm39)	D100G	probably damaging	Het
Ttll13	T	A	7: 79,910,127 (GRCm39)	S757T	probably benign	Het
Vipas39	T	A	12: 87,298,483 (GRCm39)		probably benign	Het
Vmn1r64	G	A	7: 5,886,649 (GRCm39)	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 11,994,432 (GRCm39)	S59P	probably damaging	Het
Vsx1	A	T	2: 150,530,447 (GRCm39)	V145D	probably benign	Het
Wdfy4	T	A	14: 32,815,257 (GRCm39)	N1586I	probably damaging	Het
Zan	T	A	5: 137,403,726 (GRCm39)		probably benign	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zzef1	T	A	11: 72,772,164 (GRCm39)	M1707K	probably benign	Het

Other mutations in Evi2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01364:Evi2b	APN	11	79,407,449 (GRCm39)	missense	probably benign
IGL01621:Evi2b	APN	11	79,407,126 (GRCm39)	missense	probably damaging	0.99
IGL01937:Evi2b	APN	11	79,406,893 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07