Mutagenetix > Incidental Mutations

Incidental Mutation 'R8124:Evl'

631656

Institutional Source

Beutler Lab

Gene Symbol

Evl

Ensembl Gene

ENSMUSG00000021262

Gene Name

Ena-vasodilator stimulated phosphoprotein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8124 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108554720-108688516 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 108681524 bp

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]

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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 94.5%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap3	T	A	5: 24,478,130	I320N	probably benign	Het
Ahnak	G	A	19: 9,007,123	G1924S	probably damaging	Het
Ap2a2	G	A	7: 141,598,844	R141H	probably benign	Het
Atf7ip2	T	C	16: 10,209,135	V89A	possibly damaging	Het
Clpsl2	G	A	17: 28,550,728	G55R	probably damaging	Het
Csnk2a2	G	A	8: 95,455,947	P296L		Het
Dab2	T	A	15: 6,429,397	C263*	probably null	Het
Dao	AGG	AG	5: 114,015,209		probably benign	Het
Ddx60	C	T	8: 61,983,911	A965V	probably benign	Het
Dennd5a	A	T	7: 109,897,935	I1119N	probably damaging	Het
Dpy30	A	G	17: 74,316,104		probably benign	Het
Epg5	G	A	18: 77,964,996	A780T	probably benign	Het
Etl4	A	G	2: 20,806,640	D1546G	probably benign	Het
F13a1	T	C	13: 37,025,805	K62R	probably damaging	Het
Gm2832	T	C	14: 41,278,937	M44T		Het
Gm884	A	G	11: 103,620,431	V237A	unknown	Het
Gm9195	T	C	14: 72,442,623	I2249V	probably benign	Het
Hmcn2	T	C	2: 31,400,124	V2323A	probably benign	Het
Ice2	T	A	9: 69,400,495	N20K	probably damaging	Het
Klf15	T	C	6: 90,466,881	F146S	probably damaging	Het
Lgi3	A	G	14: 70,534,738	Y241C	probably damaging	Het
Lig4	A	T	8: 9,972,954	D275E	probably damaging	Het
Lrit1	T	A	14: 37,062,048	S444R	probably benign	Het
Mip	T	C	10: 128,226,201	V107A	possibly damaging	Het
Myo15	G	A	11: 60,507,453	V1581M		Het
Nckap1l	A	G	15: 103,473,821	D481G	possibly damaging	Het
Obox3	A	T	7: 15,589,949		probably null	Het
Olfr1438-ps1	T	A	19: 12,333,470	N129Y	probably damaging	Het
Olfr491	C	A	7: 108,317,777	N294K	possibly damaging	Het
Olfr707	G	A	7: 106,891,881	T76I	possibly damaging	Het
Olfr749	C	T	14: 50,736,286	R292H	probably benign	Het
Olfr944	T	C	9: 39,217,671	F105L	probably benign	Het
Papd7	G	A	13: 69,533,597		probably benign	Het
Pilrb2	T	A	5: 137,871,044	E98V	probably damaging	Het
Plekhm1	A	G	11: 103,366,949	V1053A	probably benign	Het
Prdm2	A	T	4: 143,135,265	V485E	probably damaging	Het
Riox2	G	A	16: 59,486,591	E282K	probably benign	Het
Rps6ka2	T	A	17: 7,281,829	V379E	possibly damaging	Het
Skiv2l2	A	C	13: 112,927,337	D7E	probably benign	Het
Slc4a7	G	A	14: 14,729,211	E20K	possibly damaging	Het
Sned1	G	A	1: 93,282,989		probably null	Het
Spata3	C	T	1: 86,024,353	R110C	unknown	Het
St6gal1	G	A	16: 23,357,835	A393T	probably benign	Het
Tmem132d	T	C	5: 127,792,560	Q570R	probably damaging	Het
Tmem87a	T	C	2: 120,392,195	T168A	probably benign	Het
Trank1	A	G	9: 111,378,927	R1747G	probably benign	Het
Txk	C	T	5: 72,703,263		probably null	Het
Vcan	T	A	13: 89,704,254	L862F	possibly damaging	Het
Wdr64	A	T	1: 175,799,278		probably null	Het
Zfp106	G	T	2: 120,524,331	Q1343K	probably benign	Het
Zfp719	A	G	7: 43,589,890	T301A	probably benign	Het

Other mutations in Evl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02546:Evl	APN	12	108648419	missense	possibly damaging	0.47
IGL03391:Evl	APN	12	108676099	splice site	probably null
Husk	UTSW	12	108648460	missense	probably damaging	1.00
Pencil	UTSW	12	108681524	nonsense	probably null
Shaving	UTSW	12	108648308	splice site	probably benign
R0366:Evl	UTSW	12	108686048	critical splice acceptor site	probably null
R0603:Evl	UTSW	12	108648422	missense	probably damaging	1.00
R1843:Evl	UTSW	12	108652996	missense	probably damaging	1.00
R3431:Evl	UTSW	12	108648308	splice site	probably benign
R3432:Evl	UTSW	12	108648308	splice site	probably benign
R4915:Evl	UTSW	12	108686106	missense	probably damaging	1.00
R5137:Evl	UTSW	12	108681522	missense	probably benign	0.00
R5688:Evl	UTSW	12	108673353	critical splice donor site	probably null
R5933:Evl	UTSW	12	108683257	missense	possibly damaging	0.60
R5950:Evl	UTSW	12	108675553	missense	probably benign	0.16
R6144:Evl	UTSW	12	108653031	missense	probably damaging	1.00
R7235:Evl	UTSW	12	108648460	missense	probably damaging	1.00
R7369:Evl	UTSW	12	108686565	missense	unknown
R7639:Evl	UTSW	12	108686103	missense	probably damaging	1.00
R7822:Evl	UTSW	12	108648464	missense	probably damaging	1.00
R7967:Evl	UTSW	12	108681524	nonsense	probably null
R7968:Evl	UTSW	12	108681524	nonsense	probably null
R7970:Evl	UTSW	12	108681524	nonsense	probably null
R7972:Evl	UTSW	12	108681524	nonsense	probably null
R7973:Evl	UTSW	12	108681524	nonsense	probably null
R8017:Evl	UTSW	12	108681524	nonsense	probably null
R8019:Evl	UTSW	12	108681524	nonsense	probably null
R8020:Evl	UTSW	12	108681524	nonsense	probably null
R8046:Evl	UTSW	12	108681524	nonsense	probably null
R8105:Evl	UTSW	12	108681524	nonsense	probably null
R8122:Evl	UTSW	12	108681524	nonsense	probably null
R8123:Evl	UTSW	12	108681524	nonsense	probably null
R8125:Evl	UTSW	12	108681524	nonsense	probably null
R8126:Evl	UTSW	12	108681524	nonsense	probably null
R8298:Evl	UTSW	12	108652973	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AGCCTAGTGATGTAAGGATTGTGC -3'
(R):5'- CCTTAGCTGGACCAGATCAAGG -3'

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

Posted On

2020-06-30