Mutagenetix > Incidental Mutation

Incidental Mutation 'R8046:Evl'

618773

Institutional Source

Beutler Lab

Gene Symbol

Evl

Ensembl Gene

ENSMUSG00000021262

Gene Name

Ena-vasodilator stimulated phosphoprotein

Synonyms

b2b2600Clo

MMRRC Submission

067483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108520979-108654775 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 108647783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 295 (R295*)

Ref Sequence

ENSEMBL: ENSMUSP00000152364 (fasta)

Gene Model

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

AlphaFold

P70429

Predicted Effect

probably null
Transcript: ENSMUST00000021689
AA Change: R308*

SMART Domains

Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262
AA Change: R308*

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 null
Transcript: ENSMUST00000077735
AA Change: R308*

SMART Domains

Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262
AA Change: R308*

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 null
Transcript: ENSMUST00000109854
AA Change: R314*

SMART Domains

Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262
AA Change: R314*

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 null
Transcript: ENSMUST00000172409
AA Change: R295*

SMART Domains

Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262
AA Change: R295*

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

probably null
Transcript: ENSMUST00000223109
AA Change: R295*

Predicted Effect

probably benign
Transcript: ENSMUST00000223548

Meta Mutation Damage Score

0.9757

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	T	5: 77,044,325 (GRCm39)	D188E	probably benign	Het
Ahcyl2	T	C	6: 29,878,619 (GRCm39)	L273P	probably damaging	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Angpt1	T	C	15: 42,359,752 (GRCm39)	T227A	probably benign	Het
Ankle1	C	T	8: 71,860,665 (GRCm39)	T374M	probably damaging	Het
Arhgap18	T	C	10: 26,763,853 (GRCm39)	V481A	probably damaging	Het
Astn2	A	T	4: 66,184,587 (GRCm39)	L170*	probably null	Het
Bms1	T	C	6: 118,385,105 (GRCm39)	T368A	probably benign	Het
Boll	A	G	1: 55,385,562 (GRCm39)	I121T	probably damaging	Het
Brca1	A	C	11: 101,416,296 (GRCm39)	C613G	probably benign	Het
Cdk14	T	A	5: 5,299,159 (GRCm39)	I65F	possibly damaging	Het
Chn1	T	C	2: 73,448,363 (GRCm39)	D335G	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Col12a1	A	G	9: 79,613,508 (GRCm39)		probably null	Het
Cplane2	A	C	4: 140,947,348 (GRCm39)	Q243P	probably damaging	Het
Crtac1	T	C	19: 42,297,492 (GRCm39)		probably benign	Het
Dhx40	A	T	11: 86,675,766 (GRCm39)	C507*	probably null	Het
Dok2	A	G	14: 71,015,482 (GRCm39)	D403G	probably damaging	Het
Eif1ad14	T	C	12: 87,886,335 (GRCm39)	D98G	probably benign	Het
Eif2b5	A	G	16: 20,325,154 (GRCm39)	T556A	possibly damaging	Het
Eml6	A	T	11: 29,708,981 (GRCm39)	V1480E	probably damaging	Het
Glra1	A	G	11: 55,427,225 (GRCm39)	S120P	probably damaging	Het
Habp4	T	C	13: 64,322,656 (GRCm39)	S242P	probably benign	Het
Igkv12-46	A	G	6: 69,741,570 (GRCm39)	I95T	probably damaging	Het
Itch	G	T	2: 155,052,422 (GRCm39)	G674V	probably damaging	Het
Itpr2	A	G	6: 146,327,957 (GRCm39)	L92P	probably damaging	Het
Kcnk2	A	G	1: 188,990,933 (GRCm39)		probably null	Het
Krt75	T	C	15: 101,481,199 (GRCm39)	T192A	probably benign	Het
Lrp1b	T	A	2: 41,159,199 (GRCm39)	K1694N		Het
Lrrc14	A	G	15: 76,598,731 (GRCm39)	K456E	possibly damaging	Het
Map1lc3a	G	T	2: 155,119,129 (GRCm39)		probably benign	Het
Naip5	T	A	13: 100,358,741 (GRCm39)	M832L	probably benign	Het
Nectin1	A	G	9: 43,703,798 (GRCm39)	T263A	probably benign	Het
Nnt	A	T	13: 119,511,286 (GRCm39)	M330K	probably damaging	Het
Nrap	T	C	19: 56,308,683 (GRCm39)	N1711D	possibly damaging	Het
Olfm1	A	G	2: 28,119,135 (GRCm39)	N285D	possibly damaging	Het
Or4b1d	T	A	2: 89,969,159 (GRCm39)	E108V	probably damaging	Het
Or51ab3	T	A	7: 103,201,584 (GRCm39)	S197R	possibly damaging	Het
Or8b8	A	T	9: 37,808,685 (GRCm39)		probably benign	Het
Pag1	A	G	3: 9,764,482 (GRCm39)	Y224H	probably damaging	Het
Pde8a	T	C	7: 80,958,587 (GRCm39)	C322R	possibly damaging	Het
Pde8a	A	T	7: 80,967,118 (GRCm39)	T420S	probably benign	Het
Per2	A	C	1: 91,363,425 (GRCm39)	L365R	possibly damaging	Het
Pml	A	G	9: 58,154,256 (GRCm39)		probably null	Het
Ppp1r1a	T	A	15: 103,446,305 (GRCm39)	M1L	possibly damaging	Het
Ppp3r2	G	T	4: 49,681,913 (GRCm39)	C12*	probably null	Het
Rbm20	C	A	19: 53,806,402 (GRCm39)	A494D	probably benign	Het
Scyl1	C	T	19: 5,810,620 (GRCm39)	R531Q	possibly damaging	Het
Skp2	C	A	15: 9,139,687 (GRCm39)	V38F	probably damaging	Het
Slc27a3	A	G	3: 90,296,974 (GRCm39)	C42R	probably damaging	Het
Tekt5	A	G	16: 10,213,277 (GRCm39)	F3L	probably benign	Het
Tmem200c	A	G	17: 69,147,513 (GRCm39)	K32R	probably benign	Het
Tmprss11f	T	A	5: 86,676,132 (GRCm39)	R350W	probably damaging	Het
Tph2	A	T	10: 115,015,499 (GRCm39)	I121N	possibly damaging	Het
Trim37	A	G	11: 87,037,794 (GRCm39)	D176G	possibly damaging	Het
Trpc4	A	T	3: 54,102,335 (GRCm39)	I78F	probably damaging	Het
Ttn	T	C	2: 76,609,829 (GRCm39)	K17526E	probably damaging	Het
Tuba8	A	C	6: 121,199,832 (GRCm39)	Y172S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Urb2	A	T	8: 124,754,771 (GRCm39)	R159S	possibly damaging	Het
Usp25	T	A	16: 76,906,063 (GRCm39)	C840S	probably damaging	Het
Vmn1r36	T	A	6: 66,692,964 (GRCm39)	K304*	probably null	Het
Vmn1r37	C	A	6: 66,708,656 (GRCm39)	T94N	probably damaging	Het
Vmn2r7	T	C	3: 64,614,479 (GRCm39)	N445S	probably damaging	Het
Wnk4	G	A	11: 101,164,918 (GRCm39)	G749D	probably benign	Het
Wscd2	G	A	5: 113,689,176 (GRCm39)	V61I	probably benign	Het
Zfp85	T	A	13: 67,897,098 (GRCm39)	R325*	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
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
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
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'- AGCCTAGTGATGTAAGGATTGTGC -3'
(R):5'- CCTTAGCTGGACCAGATCAAGG -3'

Sequencing Primer
(F):5'- TGCTCTTGACTGAGAGACATAGACTG -3'
(R):5'- ACACCTGCCTAGCTGTCTG -3'

Posted On

2020-01-23