Mutagenetix > Incidental Mutation

Incidental Mutation 'R4915:Evl'

434619

Institutional Source

Beutler Lab

Gene Symbol

Evl

Ensembl Gene

ENSMUSG00000021262

Gene Name

Ena-vasodilator stimulated phosphoprotein

Synonyms

b2b2600Clo

MMRRC Submission

042517-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4915 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

108520979-108654775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108652365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 359 (R359L)

Ref Sequence

ENSEMBL: ENSMUSP00000076916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021689] [ENSMUST00000021691] [ENSMUST00000077735] [ENSMUST00000109854] [ENSMUST00000167978] [ENSMUST00000172409] [ENSMUST00000223109]

AlphaFold

P70429

Predicted Effect

probably damaging
Transcript: ENSMUST00000021689
AA Change: R380L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262
AA Change: R380L

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: ENSMUST00000021691

SMART Domains

Protein: ENSMUSP00000021691
Gene: ENSMUSG00000021263

Domain	Start	End	E-Value	Type
Lipid_DES	5	43	5.57e-18	SMART
Pfam:FA_desaturase	65	294	3.3e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000077735
AA Change: R359L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262
AA Change: R359L

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: R365L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262
AA Change: R365L

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 benign
Transcript: ENSMUST00000167978

SMART Domains

Protein: ENSMUSP00000125891
Gene: ENSMUSG00000021263

Domain	Start	End	E-Value	Type
Lipid_DES	5	43	5.57e-18	SMART
Pfam:FA_desaturase	64	275	1.1e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172409
AA Change: R367L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262
AA Change: R367L

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

noncoding transcript
Transcript: ENSMUST00000222048

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223109
AA Change: R367L

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

unknown
Transcript: ENSMUST00000223548
AA Change: R3L

Predicted Effect

probably benign
Transcript: ENSMUST00000222255

Meta Mutation Damage Score

0.8821

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

98% (162/166)

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: 135 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	T	12: 71,236,420 (GRCm39)	A1257V	possibly damaging	Het
Aldh8a1	T	C	10: 21,271,662 (GRCm39)	S463P	probably damaging	Het
Angptl1	T	G	1: 156,672,388 (GRCm39)	D71E	probably benign	Het
Ank2	T	A	3: 126,736,320 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,165,112 (GRCm39)	S649P	possibly damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Asb15	A	T	6: 24,566,292 (GRCm39)	D415V	probably damaging	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bmi1	G	A	2: 18,687,143 (GRCm39)		probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Brd9	A	G	13: 74,086,574 (GRCm39)	E25G	probably damaging	Het
Btbd7	A	T	12: 102,804,046 (GRCm39)	C331*	probably null	Het
Ccdc198	A	T	14: 49,470,351 (GRCm39)	N189K	probably benign	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cenpj	T	C	14: 56,791,175 (GRCm39)	D328G	probably damaging	Het
Cherp	T	C	8: 73,222,241 (GRCm39)	D255G	probably damaging	Het
Clec5a	T	A	6: 40,562,165 (GRCm39)		probably benign	Het
Cntnap2	T	C	6: 46,506,969 (GRCm39)		probably benign	Het
Col7a1	G	A	9: 108,795,532 (GRCm39)	G1529E	unknown	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2a22	C	A	7: 26,637,195 (GRCm39)	E196D	probably benign	Het
Cyp4f18	T	A	8: 72,762,898 (GRCm39)	H63L	probably damaging	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Ddx6	T	A	9: 44,524,170 (GRCm39)	D82E	probably damaging	Het
Defb42	A	G	14: 63,285,790 (GRCm39)	I57V	probably benign	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Dip2c	T	A	13: 9,671,905 (GRCm39)		probably null	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dnah12	A	T	14: 26,455,725 (GRCm39)	D816V	probably damaging	Het
Dpy19l3	T	C	7: 35,452,167 (GRCm39)		probably benign	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fbxw14	A	T	9: 109,103,592 (GRCm39)	F40Y	possibly damaging	Het
Fbxw22	A	G	9: 109,213,009 (GRCm39)	F313L	probably damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fry	A	T	5: 150,402,328 (GRCm39)	T790S	probably benign	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Gm13030	T	A	4: 138,601,239 (GRCm39)		probably benign	Het
Gm37150	C	T	9: 72,292,772 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,091,573 (GRCm39)	N65S	unknown	Het
Gnb4	C	T	3: 32,639,236 (GRCm39)		probably benign	Het
Gprin1	G	T	13: 54,885,886 (GRCm39)	P796Q	probably damaging	Het
Grin1	A	G	2: 25,188,565 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,874,231 (GRCm39)	R2088G	possibly damaging	Het
Hsd3b9	C	T	3: 98,357,845 (GRCm39)	V56M	probably damaging	Het
Ighv6-6	C	A	12: 114,398,595 (GRCm39)	R57L	probably damaging	Het
Inhca	A	C	9: 103,129,054 (GRCm39)	Y235*	probably null	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Iqgap3	T	A	3: 88,008,834 (GRCm39)	I643K	possibly damaging	Het
Itga11	C	A	9: 62,659,530 (GRCm39)	Y427*	probably null	Het
Kbtbd8	T	G	6: 95,103,515 (GRCm39)	M388R	possibly damaging	Het
Kif1a	T	A	1: 93,002,700 (GRCm39)	E233V	probably benign	Het
Krt10	T	C	11: 99,278,334 (GRCm39)	N275S	probably damaging	Het
Lrrc3	T	C	10: 77,737,253 (GRCm39)	D61G	probably benign	Het
Mapk8ip3	A	G	17: 25,128,127 (GRCm39)	S377P	possibly damaging	Het
Mccc1	A	G	3: 36,051,703 (GRCm39)	L32S	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mmp11	C	T	10: 75,761,419 (GRCm39)	A31T	probably damaging	Het
Mthfsl	A	C	9: 88,597,550 (GRCm39)	L67V	probably damaging	Het
Myo1c	T	G	11: 75,547,135 (GRCm39)	M1R	probably null	Het
N4bp2	T	A	5: 65,960,847 (GRCm39)	M506K	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nid1	A	G	13: 13,674,171 (GRCm39)	E850G	possibly damaging	Het
Nlrp9c	T	C	7: 26,083,885 (GRCm39)	T565A	probably benign	Het
Nomo1	T	C	7: 45,693,656 (GRCm39)	F163L	probably benign	Het
Nsd1	T	C	13: 55,395,681 (GRCm39)	V1197A	possibly damaging	Het
Nsd1	A	G	13: 55,424,341 (GRCm39)	T1463A	probably benign	Het
Nsf	G	A	11: 103,801,185 (GRCm39)		probably benign	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or4k51	A	T	2: 111,584,725 (GRCm39)	I44F	probably benign	Het
Or5an1c	A	G	19: 12,218,737 (GRCm39)	V96A	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or8k33	A	G	2: 86,384,399 (GRCm39)	L23P	probably damaging	Het
Or9g10	T	C	2: 85,584,465 (GRCm39)		probably benign	Het
Pcdha6	T	A	18: 37,101,510 (GRCm39)	D234E	probably damaging	Het
Pcnx1	C	A	12: 82,021,269 (GRCm39)	F1425L	probably benign	Het
Pdzd9	T	G	7: 120,269,391 (GRCm39)	N10T	possibly damaging	Het
Pex6	A	T	17: 47,024,982 (GRCm39)	H345L	probably damaging	Het
Pfkfb3	G	A	2: 11,495,109 (GRCm39)	Q100*	probably null	Het
Pgm2	G	A	5: 64,258,291 (GRCm39)	G92E	probably damaging	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Plcxd2	C	T	16: 45,800,941 (GRCm39)	W94*	probably null	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Prkcg	T	G	7: 3,378,781 (GRCm39)	Y624*	probably null	Het
Rabep2	T	C	7: 126,044,094 (GRCm39)	S517P	probably damaging	Het
Rabgap1l	A	G	1: 160,269,412 (GRCm39)	I717T	probably benign	Het
Rasef	A	G	4: 73,649,696 (GRCm39)	C484R	probably damaging	Het
Rdh19	A	G	10: 127,686,113 (GRCm39)	D75G	probably benign	Het
Rpl21-ps10	T	C	3: 38,161,617 (GRCm39)		noncoding transcript	Het
Rsl1d1	A	T	16: 11,017,593 (GRCm39)		probably null	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rwdd1	T	C	10: 33,885,074 (GRCm39)	D62G	possibly damaging	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc24a1	A	T	9: 64,855,213 (GRCm39)	F565I	unknown	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Sox6	T	C	7: 115,076,199 (GRCm39)	D814G	probably damaging	Het
Spata4	T	C	8: 55,055,471 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,941,347 (GRCm39)	K202M	probably damaging	Het
Speer4b	C	T	5: 27,705,134 (GRCm39)	E80K	probably benign	Het
Sqle	T	G	15: 59,193,218 (GRCm39)	Y198*	probably null	Het
Srek1	T	C	13: 103,889,194 (GRCm39)		probably benign	Het
Srek1	T	C	13: 103,889,071 (GRCm39)		probably benign	Het
St14	G	A	9: 31,019,960 (GRCm39)	R50*	probably null	Het
Tcaf1	A	G	6: 42,652,130 (GRCm39)	V784A	probably damaging	Het
Tfr2	C	T	5: 137,581,673 (GRCm39)	R587W	probably damaging	Het
Tmpo	A	G	10: 90,985,411 (GRCm39)	V357A	probably damaging	Het
Trrap	A	T	5: 144,742,545 (GRCm39)	I1101F	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttpal	G	A	2: 163,449,397 (GRCm39)	R84H	probably damaging	Het
Tyk2	T	C	9: 21,022,433 (GRCm39)	T799A	probably benign	Het
Ugt1a10	A	T	1: 87,983,646 (GRCm39)	D148V	probably damaging	Het
Usp29	C	T	7: 6,964,504 (GRCm39)	P116S	probably benign	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Usp9y	C	T	Y: 1,316,735 (GRCm39)	R1938H	probably damaging	Het
Vmn1r90	T	G	7: 14,295,950 (GRCm39)	R49S	possibly damaging	Het
Vmn2r71	C	A	7: 85,270,476 (GRCm39)	N547K	probably damaging	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het
Yars1	A	T	4: 129,104,384 (GRCm39)		probably benign	Het
Zfp114	T	C	7: 23,877,290 (GRCm39)	L44P	probably damaging	Het
Zfp36l2	A	G	17: 84,493,690 (GRCm39)		probably benign	Het
Zfp512	T	C	5: 31,634,209 (GRCm39)	S407P	probably damaging	Het
Zfp574	C	T	7: 24,780,151 (GRCm39)	P391L	probably damaging	Het
Zfp607a	T	G	7: 27,577,985 (GRCm39)	C352G	probably benign	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	probably benign	Het
Zfr	A	C	15: 12,162,198 (GRCm39)		probably null	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
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
R6144:Evl	UTSW	12	108,619,290 (GRCm39)	missense	probably damaging	1.00
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'- CCTTTCAGAGGCAGGACTTG -3'
(R):5'- CACCCCTCAGTTTATGATGGCTG -3'

Sequencing Primer
(F):5'- AGGACTTGCACAGCCTTTC -3'
(R):5'- CAGTTTATGATGGCTGCCCACAG -3'

Posted On

2016-10-10