Mutagenetix > Incidental Mutation

Incidental Mutation 'R6144:Evl'

488757

Institutional Source

Beutler Lab

Gene Symbol

Evl

Ensembl Gene

ENSMUSG00000021262

Gene Name

Ena-vasodilator stimulated phosphoprotein

Synonyms

b2b2600Clo

MMRRC Submission

044291-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6144 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108520979-108654775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 108619290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 101 (K101T)

Ref Sequence

ENSEMBL: ENSMUSP00000105480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021689] [ENSMUST00000077735] [ENSMUST00000109854] [ENSMUST00000172409] [ENSMUST00000223109]

AlphaFold

P70429

Predicted Effect

probably benign
Transcript: ENSMUST00000021689
AA Change: K95T

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262
AA Change: K95T

Domain	Start	End	E-Value	Type
WH1	1	109	7.72e-53	SMART
low complexity region	172	204	N/A	INTRINSIC
low complexity region	216	228	N/A	INTRINSIC
low complexity region	240	251	N/A	INTRINSIC
Pfam:VASP_tetra	375	411	2.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077735
AA Change: K95T

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262
AA Change: K95T

Domain	Start	End	E-Value	Type
WH1	1	109	7.72e-53	SMART
low complexity region	172	204	N/A	INTRINSIC
low complexity region	216	228	N/A	INTRINSIC
low complexity region	240	251	N/A	INTRINSIC
Pfam:VASP_tetra	353	392	2e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000109854
AA Change: K101T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262
AA Change: K101T

Domain	Start	End	E-Value	Type
WH1	7	115	1.87e-51	SMART
low complexity region	178	210	N/A	INTRINSIC
low complexity region	222	234	N/A	INTRINSIC
low complexity region	246	257	N/A	INTRINSIC
Pfam:VASP_tetra	359	398	7.1e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172409
AA Change: K82T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262
AA Change: K82T

Domain	Start	End	E-Value	Type
WH1	1	96	5.82e-39	SMART
low complexity region	159	191	N/A	INTRINSIC
low complexity region	203	215	N/A	INTRINSIC
low complexity region	227	238	N/A	INTRINSIC
Pfam:VASP_tetra	361	400	1.6e-26	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000223109
AA Change: K82T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.4023

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (65/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable with no apparent defects in gross morphology or histology. Mice homozygous for a different knock-out allele are viable and fertile but display defects in monocyte migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3300002I08Rik	A	T	2: 150,186,564 (GRCm39)	D40E	possibly damaging	Het
4921517D22Rik	C	T	13: 59,837,347 (GRCm39)	R246H	probably damaging	Het
Agbl1	A	G	7: 76,069,832 (GRCm39)	T203A	probably benign	Het
Alms1	T	A	6: 85,600,056 (GRCm39)	D2096E	probably damaging	Het
Ankrd53	T	C	6: 83,739,639 (GRCm39)		probably benign	Het
Arap3	C	A	18: 38,118,486 (GRCm39)	G814C	probably damaging	Het
Armc9	T	G	1: 86,172,301 (GRCm39)	I5S	probably benign	Het
Catsperg1	T	C	7: 28,910,120 (GRCm39)	T74A	probably damaging	Het
Cdca7l	T	A	12: 117,837,446 (GRCm39)		probably null	Het
Cfhr2	T	A	1: 139,733,153 (GRCm39)		probably benign	Het
Chpt1	A	G	10: 88,288,955 (GRCm39)		probably benign	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Col7a1	C	T	9: 108,803,148 (GRCm39)	R2149C	unknown	Het
Cpa4	T	C	6: 30,585,082 (GRCm39)	S289P	probably damaging	Het
Cpsf3	G	A	12: 21,356,887 (GRCm39)		probably null	Het
Creb3l1	T	C	2: 91,822,350 (GRCm39)	H212R	possibly damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2c29	A	G	19: 39,310,053 (GRCm39)	D254G	possibly damaging	Het
Dennd1b	A	G	1: 139,008,993 (GRCm39)	H232R	probably damaging	Het
Dhx29	T	C	13: 113,101,105 (GRCm39)	L1216P	probably damaging	Het
Dsg1b	T	C	18: 20,529,476 (GRCm39)	I307T	possibly damaging	Het
Ep300	A	G	15: 81,485,435 (GRCm39)	S141G	unknown	Het
Exph5	G	A	9: 53,284,328 (GRCm39)	G470R	probably benign	Het
Flg	A	T	3: 93,190,515 (GRCm39)		probably benign	Het
Gm45704	T	A	8: 73,510,920 (GRCm39)			Het
Grm1	T	C	10: 10,955,640 (GRCm39)	M215V	probably benign	Het
Hadha	T	C	5: 30,345,994 (GRCm39)	D210G	probably benign	Het
Hmcn1	T	C	1: 150,598,175 (GRCm39)	Y1709C	probably damaging	Het
Hrc	A	T	7: 44,986,157 (GRCm39)	H436L	possibly damaging	Het
Hycc1	T	C	5: 24,171,367 (GRCm39)	S352G	possibly damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Itgb7	C	A	15: 102,131,917 (GRCm39)	R222L	probably benign	Het
Khnyn	T	C	14: 56,125,296 (GRCm39)	V485A	probably damaging	Het
Kifc5b	T	C	17: 27,140,826 (GRCm39)	V100A	probably benign	Het
Lsm10	T	C	4: 125,991,794 (GRCm39)	M50T	probably damaging	Het
Map3k6	T	G	4: 132,972,986 (GRCm39)	W382G	probably damaging	Het
Mink1	T	A	11: 70,501,478 (GRCm39)	F922I	possibly damaging	Het
Mrap2	T	C	9: 87,057,871 (GRCm39)	V53A	probably damaging	Het
Mrps7	C	A	11: 115,495,000 (GRCm39)	A5E	probably benign	Het
Muc4	A	G	16: 32,587,298 (GRCm39)	N2713S	possibly damaging	Het
Nckipsd	T	C	9: 108,689,585 (GRCm39)	S249P	probably damaging	Het
Neil3	T	C	8: 54,052,447 (GRCm39)	T384A	probably benign	Het
Noc3l	A	T	19: 38,787,399 (GRCm39)	I504K	probably damaging	Het
Nudt13	A	G	14: 20,357,839 (GRCm39)	N107S	probably benign	Het
Or11h4b	C	A	14: 50,918,392 (GRCm39)	R233L	probably benign	Het
Or2n1	T	A	17: 38,486,116 (GRCm39)	L47H	probably damaging	Het
Or5c1	T	A	2: 37,222,125 (GRCm39)	M122K	probably damaging	Het
Otub1	G	T	19: 7,176,518 (GRCm39)	Y205*	probably null	Het
Pals1	T	C	12: 78,871,563 (GRCm39)	V381A	possibly damaging	Het
Pierce2	C	A	9: 72,887,270 (GRCm39)	C79F	probably damaging	Het
Plpp7	T	A	2: 31,986,100 (GRCm39)	S93T	probably damaging	Het
Pxk	T	G	14: 8,138,011 (GRCm38)	Y188D	probably damaging	Het
Rigi	T	C	4: 40,229,551 (GRCm39)	I78V	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpap1	A	T	2: 119,603,128 (GRCm39)	C602*	probably null	Het
Sbds	T	C	5: 130,275,185 (GRCm39)	K248E	probably benign	Het
Serpina10	A	T	12: 103,595,092 (GRCm39)	N42K	probably benign	Het
Slc7a8	A	G	14: 54,966,797 (GRCm39)	L368P	probably damaging	Het
Srrm1	T	C	4: 135,065,184 (GRCm39)		probably benign	Het
Sun2	C	T	15: 79,614,533 (GRCm39)	V288I	probably benign	Het
Tas2r107	C	A	6: 131,636,966 (GRCm39)	A28S	possibly damaging	Het
Tbc1d9b	T	C	11: 50,037,155 (GRCm39)	I268T	probably benign	Het
Tjp2	A	G	19: 24,097,437 (GRCm39)	F495L	probably damaging	Het
Top2b	T	C	14: 16,423,740 (GRCm38)	L1434P	possibly damaging	Het
Top3b	A	G	16: 16,697,005 (GRCm39)		probably null	Het
Trdv2-2	A	T	14: 54,198,761 (GRCm39)	E17V	possibly damaging	Het
Ttc6	T	A	12: 57,719,886 (GRCm39)	L819Q	possibly damaging	Het
Txlnb	A	G	10: 17,718,914 (GRCm39)	T582A	probably benign	Het
Zfp788	T	C	7: 41,299,193 (GRCm39)	S558P	probably damaging	Het

Other mutations in Evl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02546:Evl	APN	12	108,614,678 (GRCm39)	missense	possibly damaging	0.47
IGL03391:Evl	APN	12	108,642,358 (GRCm39)	splice site	probably null
Graphite	UTSW	12	108,647,814 (GRCm39)	critical splice donor site	probably null
Husk	UTSW	12	108,614,719 (GRCm39)	missense	probably damaging	1.00
Pencil	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
Shaving	UTSW	12	108,614,567 (GRCm39)	splice site	probably benign
R0366:Evl	UTSW	12	108,652,307 (GRCm39)	critical splice acceptor site	probably null
R0603:Evl	UTSW	12	108,614,681 (GRCm39)	missense	probably damaging	1.00
R1843:Evl	UTSW	12	108,619,255 (GRCm39)	missense	probably damaging	1.00
R3431:Evl	UTSW	12	108,614,567 (GRCm39)	splice site	probably benign
R3432:Evl	UTSW	12	108,614,567 (GRCm39)	splice site	probably benign
R4915:Evl	UTSW	12	108,652,365 (GRCm39)	missense	probably damaging	1.00
R5137:Evl	UTSW	12	108,647,781 (GRCm39)	missense	probably benign	0.00
R5688:Evl	UTSW	12	108,639,612 (GRCm39)	critical splice donor site	probably null
R5933:Evl	UTSW	12	108,649,516 (GRCm39)	missense	possibly damaging	0.60
R5950:Evl	UTSW	12	108,641,812 (GRCm39)	missense	probably benign	0.16
R7235:Evl	UTSW	12	108,614,719 (GRCm39)	missense	probably damaging	1.00
R7369:Evl	UTSW	12	108,652,824 (GRCm39)	missense	unknown
R7639:Evl	UTSW	12	108,652,362 (GRCm39)	missense	probably damaging	1.00
R7822:Evl	UTSW	12	108,614,723 (GRCm39)	missense	probably damaging	1.00
R7967:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R7968:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R7970:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R7972:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R7973:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8017:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8019:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8020:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8046:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8105:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8122:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8123:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8124:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8125:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8126:Evl	UTSW	12	108,647,783 (GRCm39)	nonsense	probably null
R8298:Evl	UTSW	12	108,619,232 (GRCm39)	missense	probably benign	0.21
R9199:Evl	UTSW	12	108,647,814 (GRCm39)	critical splice donor site	probably null
R9484:Evl	UTSW	12	108,652,716 (GRCm39)	missense	probably damaging	1.00
R9650:Evl	UTSW	12	108,641,698 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- CTGTGGCTGAAAGGATACGG -3'
(R):5'- CCCTCTTAGTCATGACGCTG -3'

Sequencing Primer
(F):5'- AAAGGATACGGTGTCTTTGCCC -3'
(R):5'- TCTTAGTCATGACGCTGAACCTCAAG -3'

Posted On

2017-10-10