Mutagenetix > Incidental Mutation

Incidental Mutation 'R5933:Evl'

462044

Institutional Source

Beutler Lab

Gene Symbol

Evl

Ensembl Gene

ENSMUSG00000021262

Gene Name

Ena-vasodilator stimulated phosphoprotein

Synonyms

b2b2600Clo

MMRRC Submission

044127-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5933 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108520979-108654775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108649516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 345 (S345P)

Ref Sequence

ENSEMBL: ENSMUSP00000105480 (fasta)

Gene Model

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

AlphaFold

P70429

Predicted Effect

probably benign
Transcript: ENSMUST00000021689
AA Change: S339P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262
AA Change: S339P

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: S339P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262
AA Change: S339P

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

possibly damaging
Transcript: ENSMUST00000109854
AA Change: S345P

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262
AA Change: S345P

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 benign
Transcript: ENSMUST00000172409
AA Change: S326P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262
AA Change: S326P

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

probably benign
Transcript: ENSMUST00000222255

Predicted Effect

probably benign
Transcript: ENSMUST00000223109
AA Change: S326P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000223548

Meta Mutation Damage Score

0.1240

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

Validation Efficiency

94% (99/105)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,776,109 (GRCm39)	P1766L	probably damaging	Het
Abca13	A	G	11: 9,199,658 (GRCm39)	Q119R	possibly damaging	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Aipl1	A	C	11: 71,921,108 (GRCm39)	C237G	probably benign	Het
Ankdd1a	C	T	9: 65,416,978 (GRCm39)	A154T	probably benign	Het
Arglu1	T	C	8: 8,740,047 (GRCm39)	S91G	probably benign	Het
Arhgef33	C	A	17: 80,644,709 (GRCm39)	H13N	probably benign	Het
Atp1a4	A	G	1: 172,059,841 (GRCm39)	I796T	possibly damaging	Het
Birc6	C	G	17: 74,906,232 (GRCm39)	S1374R	probably damaging	Het
Birc6	T	A	17: 74,906,233 (GRCm39)	S72T	probably damaging	Het
Bmpr1b	T	C	3: 141,577,128 (GRCm39)	*59W	probably null	Het
Btbd16	A	T	7: 130,386,011 (GRCm39)	Q63L	probably damaging	Het
Cacna1c	C	T	6: 118,589,541 (GRCm39)	R1592H	probably damaging	Het
Caps2	G	A	10: 112,051,351 (GRCm39)	E541K	probably benign	Het
Card9	T	C	2: 26,242,509 (GRCm39)	E500G	probably damaging	Het
Carnmt1	T	C	19: 18,681,469 (GRCm39)	V396A	probably benign	Het
Ccnl1	T	A	3: 65,855,763 (GRCm39)	K320M	probably damaging	Het
Cdh20	A	C	1: 104,912,396 (GRCm39)	D550A	probably damaging	Het
Cdhr1	T	A	14: 36,811,419 (GRCm39)	T231S	probably benign	Het
Cenpe	T	C	3: 134,967,389 (GRCm39)	V2177A	probably benign	Het
Cfap69	A	G	5: 5,690,183 (GRCm39)	C161R	probably damaging	Het
Ctsd	C	T	7: 141,930,316 (GRCm39)	V403I	probably benign	Het
Cyth1	C	T	11: 118,076,585 (GRCm39)		probably null	Het
Dazl	A	T	17: 50,594,781 (GRCm39)		probably null	Het
Disp3	A	T	4: 148,325,770 (GRCm39)	C1329*	probably null	Het
Dld	C	T	12: 31,383,982 (GRCm39)	V374I	probably benign	Het
Dnah7c	T	C	1: 46,558,375 (GRCm39)	Y494H	probably damaging	Het
Dnttip2	T	A	3: 122,069,217 (GRCm39)	M144K	probably benign	Het
Drc1	A	T	5: 30,502,873 (GRCm39)	D132V	probably damaging	Het
Enpp6	A	G	8: 47,519,039 (GRCm39)	D269G	probably benign	Het
Ephx4	T	A	5: 107,551,631 (GRCm39)		probably null	Het
Fam193a	A	T	5: 34,623,024 (GRCm39)	D1204V	probably damaging	Het
Fat2	A	T	11: 55,174,877 (GRCm39)	D1945E	probably damaging	Het
Fat4	T	C	3: 39,005,524 (GRCm39)		probably null	Het
Fbln7	A	T	2: 128,719,418 (GRCm39)	M72L	probably benign	Het
Flnc	T	C	6: 29,441,105 (GRCm39)	V353A	probably damaging	Het
Fry	T	C	5: 150,314,265 (GRCm39)		probably benign	Het
Galnt14	A	T	17: 73,833,300 (GRCm39)	C225S	probably benign	Het
Gapvd1	T	C	2: 34,574,303 (GRCm39)	S1265G	probably benign	Het
Gm13030	A	G	4: 138,598,515 (GRCm39)	F136S	unknown	Het
Gucy1a1	T	C	3: 82,002,114 (GRCm39)	H655R	probably damaging	Het
Hk1	A	G	10: 62,105,773 (GRCm39)	L890P	probably damaging	Het
Igfn1	T	A	1: 135,898,341 (GRCm39)	R742*	probably null	Het
Igkv12-49	T	C	6: 69,693,553 (GRCm39)		noncoding transcript	Het
Igkv2-109	T	A	6: 68,279,965 (GRCm39)	L62Q	possibly damaging	Het
Itgb3	A	G	11: 104,528,805 (GRCm39)	T311A	possibly damaging	Het
Kl	A	G	5: 150,912,948 (GRCm39)	E899G	probably damaging	Het
Kyat3	A	T	3: 142,429,021 (GRCm39)	D151V	probably damaging	Het
Morc2b	A	T	17: 33,357,583 (GRCm39)	M63K	possibly damaging	Het
Mtbp	T	A	15: 55,434,723 (GRCm39)	F298L	possibly damaging	Het
Mtmr3	C	T	11: 4,448,951 (GRCm39)	V272I	probably benign	Het
Muc4	A	G	16: 32,574,480 (GRCm39)	T977A	probably benign	Het
Nebl	G	A	2: 17,408,998 (GRCm39)	H367Y	probably benign	Het
Nop58	T	A	1: 59,743,824 (GRCm39)	Y274*	probably null	Het
Nuak1	T	A	10: 84,210,666 (GRCm39)	Q474L	probably damaging	Het
Obscn	A	G	11: 58,889,331 (GRCm39)	S7523P	unknown	Het
Oosp3	T	A	19: 11,682,753 (GRCm39)	D140E	probably benign	Het
Or52z15	T	A	7: 103,332,680 (GRCm39)	C242S	probably damaging	Het
Padi2	G	A	4: 140,644,952 (GRCm39)	R62H	probably benign	Het
Patl1	A	G	19: 11,917,136 (GRCm39)	N661S	probably benign	Het
Pcyox1l	G	T	18: 61,831,544 (GRCm39)	N238K	probably benign	Het
Pmch	A	G	10: 87,927,011 (GRCm39)	T5A	probably benign	Het
Polr3h	A	G	15: 81,800,835 (GRCm39)	L169P	probably damaging	Het
Ptpn4	A	G	1: 119,615,453 (GRCm39)	V567A	probably damaging	Het
Rasgrp2	T	G	19: 6,452,543 (GRCm39)	F39V	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Sh3glb2	A	T	2: 30,240,401 (GRCm39)		probably null	Het
Slc46a3	A	T	5: 147,830,700 (GRCm39)	N44K	probably benign	Het
Slc9b1	T	A	3: 135,099,756 (GRCm39)	N425K	probably benign	Het
Slfn14	A	T	11: 83,170,288 (GRCm39)	V452E	probably damaging	Het
Slfn8	A	T	11: 82,894,161 (GRCm39)	M826K	probably benign	Het
Slit3	G	A	11: 35,520,578 (GRCm39)	V572M	probably benign	Het
Smr3a	C	A	5: 88,155,873 (GRCm39)		probably null	Het
Snap29	T	C	16: 17,224,194 (GRCm39)	S70P	probably damaging	Het
Svopl	T	A	6: 37,993,949 (GRCm39)		probably benign	Het
Tbc1d17	A	T	7: 44,494,761 (GRCm39)	F186I	probably damaging	Het
Tgm6	T	C	2: 129,983,176 (GRCm39)	V255A	probably damaging	Het
Tjp1	G	T	7: 64,952,600 (GRCm39)	T1498K	probably benign	Het
Tkfc	C	A	19: 10,574,711 (GRCm39)	E176D	probably benign	Het
Tmem102	C	T	11: 69,694,506 (GRCm39)	V489I	probably damaging	Het
Ttn	A	G	2: 76,551,781 (GRCm39)	V22930A	probably damaging	Het
Tyms	A	T	5: 30,278,357 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,748,238 (GRCm39)	D67E	probably damaging	Het
Unc119b	G	A	5: 115,265,508 (GRCm39)		probably benign	Het
Usp29	A	T	7: 6,964,744 (GRCm39)	T196S	probably benign	Het
Usp37	A	G	1: 74,525,141 (GRCm39)	S228P	probably damaging	Het
Usp42	C	A	5: 143,701,270 (GRCm39)	A918S	probably benign	Het
Vmn2r72	T	A	7: 85,387,058 (GRCm39)	L835F	probably benign	Het
Vps13a	T	C	19: 16,637,894 (GRCm39)	T2396A	probably benign	Het
Whrn	A	T	4: 63,412,945 (GRCm39)	S176T	probably damaging	Het
Zbtb42	T	C	12: 112,647,055 (GRCm39)	F410S	probably damaging	Het
Zfp616	T	C	11: 73,973,952 (GRCm39)	S74P	probably damaging	Het
Zswim6	A	G	13: 107,880,642 (GRCm39)		noncoding transcript	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
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'- TCTTAGCAGCTCCCACTGTG -3'
(R):5'- TGTTAGTCATGAGCCAGGGGAC -3'

Sequencing Primer
(F):5'- TGGCTCTGCACCAAAGTCTGATAG -3'
(R):5'- AGCCTGGGCAACACATG -3'

Posted On

2017-02-28