Mutagenetix > Incidental Mutation

Incidental Mutation 'R7369:Evl'

572025

Institutional Source

Beutler Lab

Gene Symbol

Evl

Ensembl Gene

ENSMUSG00000021262

Gene Name

Ena-vasodilator stimulated phosphoprotein

Synonyms

b2b2600Clo

MMRRC Submission

045453-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7369 (G1)

Quality Score

149.008

Status

Validated

Chromosome

Chromosomal Location

108520979-108654775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108652824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 423 (Y423C)

Ref Sequence

ENSEMBL: ENSMUSP00000152364 (fasta)

Gene Model

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

AlphaFold

P70429

Predicted Effect

probably benign
Transcript: ENSMUST00000021689

SMART Domains

Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262

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 benign
Transcript: ENSMUST00000077735

SMART Domains

Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262

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 benign
Transcript: ENSMUST00000109854

SMART Domains

Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262

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

SMART Domains

Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262

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 benign
Transcript: ENSMUST00000222255

Predicted Effect

unknown
Transcript: ENSMUST00000223109
AA Change: Y423C

Predicted Effect

probably benign
Transcript: ENSMUST00000223548

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (77/77)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	C	T	7: 29,989,377 (GRCm39)	L196F	unknown	Het
Ahr	A	T	12: 35,554,659 (GRCm39)	W487R	possibly damaging	Het
Apaf1	A	G	10: 90,836,898 (GRCm39)	S1060P	probably damaging	Het
Atf7	G	T	15: 102,462,244 (GRCm39)	P126H	probably damaging	Het
B3gnt5	C	A	16: 19,588,410 (GRCm39)	Q210K	probably benign	Het
Begain	T	C	12: 108,999,853 (GRCm39)	Y306C	possibly damaging	Het
Car5a	T	C	8: 122,650,573 (GRCm39)	K157R	probably benign	Het
Car5b	A	C	X: 162,797,836 (GRCm39)	S35R	probably benign	Het
Cdh6	A	G	15: 13,042,724 (GRCm39)	V478A	probably damaging	Het
Cdyl	A	G	13: 35,999,992 (GRCm39)	E91G	probably damaging	Het
Cep135	A	C	5: 76,741,100 (GRCm39)	K59Q	possibly damaging	Het
Clec2m	T	A	6: 129,308,496 (GRCm39)	Q11L	possibly damaging	Het
Cnot3	T	A	7: 3,656,330 (GRCm39)	D205E	possibly damaging	Het
Dgkd	G	A	1: 87,849,344 (GRCm39)	G379R	probably damaging	Het
Dppa1	T	A	11: 46,506,944 (GRCm39)		probably null	Het
Dsp	G	T	13: 38,381,501 (GRCm39)	V2749F	possibly damaging	Het
E2f4	A	G	8: 106,026,966 (GRCm39)	K177E	probably benign	Het
Efcab5	G	A	11: 77,008,661 (GRCm39)	P819L	possibly damaging	Het
Ercc5	T	A	1: 44,220,020 (GRCm39)	S1097R	probably benign	Het
Erp44	T	C	4: 48,218,183 (GRCm39)	N162S	probably benign	Het
Fam78a	T	A	2: 31,959,699 (GRCm39)	N137I	probably damaging	Het
Fcrl2	T	C	3: 87,164,008 (GRCm39)	N374D	possibly damaging	Het
Fcrla	T	G	1: 170,749,886 (GRCm39)	D57A	probably benign	Het
Gm7145	A	T	1: 117,913,838 (GRCm39)	H240L	probably benign	Het
Kdm5a	T	A	6: 120,408,965 (GRCm39)	N1549K	possibly damaging	Het
Kirrel1	C	T	3: 87,048,391 (GRCm39)	R9H	probably benign	Het
Klf7	T	C	1: 64,160,300 (GRCm39)		probably null	Het
Lce1d	G	A	3: 92,593,390 (GRCm39)	Q8*	probably null	Het
Lcn4	T	C	2: 26,557,906 (GRCm39)	H180R	probably benign	Het
Lmntd1	T	A	6: 145,359,301 (GRCm39)	Y283F	probably damaging	Het
Lrp1b	C	T	2: 41,172,051 (GRCm39)	R1646K		Het
Map3k21	C	A	8: 126,637,855 (GRCm39)	A147E	possibly damaging	Het
Mapk8ip2	T	C	15: 89,338,454 (GRCm39)	S11P	probably benign	Het
Mdn1	T	A	4: 32,773,375 (GRCm39)	F5518L	probably damaging	Het
Msh3	T	A	13: 92,435,770 (GRCm39)	T510S	probably benign	Het
Myh1	A	T	11: 67,111,524 (GRCm39)	Q1654H	probably damaging	Het
Ncbp3	T	C	11: 72,968,747 (GRCm39)	V506A	probably benign	Het
Nfkbiz	A	G	16: 55,642,209 (GRCm39)	S70P	probably damaging	Het
Nmi	T	C	2: 51,840,096 (GRCm39)	D215G	possibly damaging	Het
Nphp3	T	C	9: 103,895,449 (GRCm39)	S496P	probably damaging	Het
Nrp1	T	A	8: 129,158,396 (GRCm39)	C228S	probably damaging	Het
Or6c5c	A	T	10: 129,299,390 (GRCm39)	M282L	probably benign	Het
Pcdh9	C	A	14: 94,123,803 (GRCm39)	R789L	possibly damaging	Het
Pigr	A	T	1: 130,769,503 (GRCm39)	T105S	probably benign	Het
Polr2a	A	C	11: 69,636,803 (GRCm39)	S383A	probably benign	Het
Prr35	G	A	17: 26,166,934 (GRCm39)	S201L	probably damaging	Het
Psd3	T	A	8: 68,356,818 (GRCm39)	H634L	possibly damaging	Het
Ptgr2	T	G	12: 84,339,080 (GRCm39)		probably benign	Het
Ptk6	A	G	2: 180,840,254 (GRCm39)	Y251H	possibly damaging	Het
Rnf213	A	G	11: 119,321,294 (GRCm39)	T1251A		Het
Rtkn2	A	G	10: 67,877,259 (GRCm39)	K443E	probably damaging	Het
Rundc3a	T	A	11: 102,290,721 (GRCm39)	L268Q	probably damaging	Het
Serpinb5	A	G	1: 106,802,879 (GRCm39)	E138G	probably benign	Het
Shroom1	A	T	11: 53,356,075 (GRCm39)	D375V	probably benign	Het
Siglecf	A	G	7: 43,001,241 (GRCm39)	T70A	probably damaging	Het
Slc20a2	A	T	8: 23,051,416 (GRCm39)	E483V	probably benign	Het
Slc49a3	A	G	5: 108,593,394 (GRCm39)	V148A	probably benign	Het
Sort1	G	A	3: 108,258,996 (GRCm39)	G676D	probably damaging	Het
Spef2	T	C	15: 9,584,293 (GRCm39)	S1581G	probably benign	Het
Stx6	C	T	1: 155,073,130 (GRCm39)	R214*	probably null	Het
Stxbp5l	A	G	16: 36,954,703 (GRCm39)	I950T	probably benign	Het
Tdrd7	T	A	4: 46,013,239 (GRCm39)	C660S	possibly damaging	Het
Tgm4	T	A	9: 122,885,749 (GRCm39)		probably null	Het
Tmem67	T	C	4: 12,053,535 (GRCm39)	Y671C	probably damaging	Het
Ttc6	A	T	12: 57,719,717 (GRCm39)		probably null	Het
Tut7	A	G	13: 59,929,867 (GRCm39)	I1458T	possibly damaging	Het
Uba2	A	G	7: 33,850,239 (GRCm39)	S405P	possibly damaging	Het
Usp34	T	C	11: 23,382,361 (GRCm39)	I2043T		Het
Vmn1r12	T	A	6: 57,136,683 (GRCm39)	I260N	possibly damaging	Het
Vmn1r172	C	T	7: 23,360,030 (GRCm39)	T305I	unknown	Het
Vmn2r24	T	C	6: 123,792,638 (GRCm39)	V655A	probably damaging	Het
Wdr33	T	C	18: 32,019,719 (GRCm39)	S464P	probably benign	Het
Zfp260	T	A	7: 29,804,750 (GRCm39)	C217S	probably damaging	Het
Zfp760	A	G	17: 21,942,214 (GRCm39)	E463G	probably benign	Het
Zhx1	A	G	15: 57,916,696 (GRCm39)	Y517H	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
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
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'- TCTGTCCCTTCACTGTGAGG -3'
(R):5'- TACACAGGATCATGCAGGC -3'

Sequencing Primer
(F):5'- CTTCACTGTGAGGCTCTGC -3'
(R):5'- TGTAAGGAAGCTCATCGCC -3'

Posted On

2019-09-13