Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Evl'

716475

Institutional Source

Beutler Lab

Gene Symbol

Evl

Ensembl Gene

ENSMUSG00000021262

Gene Name

Ena-vasodilator stimulated phosphoprotein

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9484 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108554720-108688516 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108686457 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 387 (I387N)

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 damaging
Transcript: ENSMUST00000021689
AA Change: I400N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262
AA Change: I400N

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: I379N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262
AA Change: I379N

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: I385N

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

SMART Domains

Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262
AA Change: I385N

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: I387N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262
AA Change: I387N

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 damaging
Transcript: ENSMUST00000223109
AA Change: I387N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,112,786	C151S	probably damaging	Het
Actr8	T	C	14: 29,986,344	I193T	probably benign	Het
Btbd2	T	C	10: 80,644,269	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,356,833	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,647	Y214C	probably benign	Het
Calu	T	A	6: 29,366,163	L180Q	probably damaging	Het
Corin	C	T	5: 72,339,937	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,915,917	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,381,712	A96S	unknown	Het
Ddx24	A	T	12: 103,411,296	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,676,111	Q249K	probably benign	Het
Dnah10	T	A	5: 124,823,444	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,690,208	F2036L	probably benign	Het
Dnah14	T	C	1: 181,797,746	I4064T	probably benign	Het
Dock9	A	C	14: 121,581,432	V1546G	probably damaging	Het
Eif3a	A	T	19: 60,766,568	S1059T	unknown	Het
Ep300	A	G	15: 81,636,825	E1262G	unknown	Het
Fat2	A	C	11: 55,309,926	V774G	probably damaging	Het
Fez1	T	A	9: 36,843,797	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,423,134	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004	D1911G	probably benign	Het
Fnbp1	T	C	2: 31,083,026	Y154C	probably benign	Het
Fndc10	T	C	4: 155,695,039	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,604,215	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352	H64R	possibly damaging	Het
Glis3	T	C	19: 28,531,003	D527G	probably damaging	Het
Gm2022	A	T	12: 87,895,479	Q37L	possibly damaging	Het
H2-Ob	T	A	17: 34,241,015	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,843,032	E27K	probably benign	Het
Ifnb1	T	A	4: 88,522,678	T33S	probably benign	Het
Igkv4-80	T	A	6: 69,016,782	T42S	probably damaging	Het
Irs2	C	T	8: 11,007,334	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 189,256,694		probably null	Het
Krtap5-3	T	A	7: 142,202,331	C302S	unknown	Het
Lgi1	A	G	19: 38,306,309	K510E	probably benign	Het
Lgi2	T	A	5: 52,538,594	D341V	probably benign	Het
Lin7c	T	C	2: 109,894,468	I14T	probably benign	Het
Lrrc19	A	T	4: 94,643,336	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012	I315M	probably benign	Het
Myo5c	A	T	9: 75,297,488	D1541V	probably damaging	Het
Mypn	T	G	10: 63,167,240	M373L	probably benign	Het
Nckipsd	C	A	9: 108,812,638	H333N	probably damaging	Het
Nrg2	A	T	18: 36,024,348	L428Q	probably null	Het
Olfr1367	C	A	13: 21,347,417	T163K	probably damaging	Het
Olfr235	T	C	19: 12,268,371	I47T	possibly damaging	Het
Olfr53	T	C	7: 140,651,991	L4S	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otogl	C	T	10: 107,901,295	G86D	probably damaging	Het
Papln	A	T	12: 83,791,844	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,644,894	G379C	probably damaging	Het
Pofut2	T	C	10: 77,259,426	I35T	probably benign	Het
Pros1	A	G	16: 62,924,524	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,735,809	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,517,617	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,403,407	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,180,549	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,988,947	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,461,786	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,336,234	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,908,946	V660I	probably benign	Het
Smyd1	A	G	6: 71,225,466	Y252H	probably damaging	Het
Soga3	G	A	10: 29,196,973	D754N	probably damaging	Het
Spp2	A	T	1: 88,406,973		probably benign	Het
Stra8	T	A	6: 34,934,186	W250R	probably damaging	Het
Syne1	A	C	10: 5,220,359	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,046,250	S1203P	probably damaging	Het
Th	C	A	7: 142,899,883	E27*	probably null	Het
Thada	C	A	17: 84,429,191	L887F	probably damaging	Het
Timm23	T	C	14: 32,180,629	T186A	probably benign	Het
Tmem132b	A	T	5: 125,783,356	E555V	probably damaging	Het
Tnik	A	T	3: 28,594,944	Q457L	unknown	Het
Uba7	C	A	9: 107,983,838	H942Q	probably benign	Het
Upf2	T	C	2: 5,961,267	S233P	unknown	Het
Urm1	T	A	2: 29,842,748	N72K	probably damaging	Het
Usp10	T	C	8: 119,948,765	S508P	possibly damaging	Het
Usp37	G	A	1: 74,459,922	P632S	probably damaging	Het
Wdr77	T	A	3: 105,965,088	N209K	probably benign	Het
Zbtb24	C	T	10: 41,451,433	T105M	probably benign	Het
Zfp341	T	A	2: 154,643,843	I671N	probably damaging	Het
Zfp414	A	G	17: 33,630,010	T73A	probably benign	Het
Zfp574	A	T	7: 25,081,979	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,217,281	I733T	probably damaging	Het
Zfp719	A	G	7: 43,590,157	I390V	possibly damaging	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
Graphite	UTSW	12	108681555	critical splice donor 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
R8124: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
R9199:Evl	UTSW	12	108681555	critical splice donor site	probably null
R9650:Evl	UTSW	12	108675439	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- AGAGTCTGAGTTCCCTGCAG -3'
(R):5'- CACGTGATCTGAGAGGATGC -3'

Sequencing Primer
(F):5'- TGCAGCCTGCTTCTGGAAC -3'
(R):5'- CGTGATCTGAGAGGATGCTGAGG -3'

Posted On

2022-07-18