Mutagenetix > Incidental Mutations

Incidental Mutation 'R6334:Evi5'

510696

Institutional Source

Beutler Lab

Gene Symbol

Evi5

Ensembl Gene

ENSMUSG00000011831

Gene Name

ecotropic viral integration site 5

Synonyms

NB4S

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107744795-107875107 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 107820521 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 187 (R187*)

Ref Sequence

ENSEMBL: ENSMUSP00000119758 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112642] [ENSMUST00000124034] [ENSMUST00000128723] [ENSMUST00000138111] [ENSMUST00000155955]

Predicted Effect

probably null
Transcript: ENSMUST00000112642
AA Change: R203*

SMART Domains

Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: R203*

Domain	Start	End	E-Value	Type
low complexity region	51	80	N/A	INTRINSIC
Blast:TBC	81	157	2e-16	BLAST
TBC	160	371	7.92e-91	SMART
internal_repeat_1	450	477	8.83e-6	PROSPERO
internal_repeat_1	494	521	8.83e-6	PROSPERO
coiled coil region	555	717	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000124034
AA Change: R159*

SMART Domains

Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
AA Change: R159*

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC
Blast:TBC	37	113	3e-17	BLAST
TBC	116	327	7.92e-91	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127579

Predicted Effect

probably null
Transcript: ENSMUST00000128723
AA Change: R159*

SMART Domains

Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: R159*

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC
Blast:TBC	37	113	2e-16	BLAST
TBC	116	327	7.92e-91	SMART
internal_repeat_1	466	493	2.66e-6	PROSPERO
internal_repeat_1	510	537	2.66e-6	PROSPERO
coiled coil region	571	660	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132482

Predicted Effect

probably null
Transcript: ENSMUST00000138111
AA Change: R159*

SMART Domains

Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
AA Change: R159*

Domain	Start	End	E-Value	Type
low complexity region	7	36	N/A	INTRINSIC
Blast:TBC	37	113	3e-17	BLAST
TBC	116	327	7.92e-91	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141673

Predicted Effect

probably null
Transcript: ENSMUST00000155955
AA Change: R187*

SMART Domains

Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831
AA Change: R187*

Domain	Start	End	E-Value	Type
Blast:TBC	18	133	3e-20	BLAST
Pfam:RabGAP-TBC	150	222	1.6e-11	PFAM

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,114	S141T	probably benign	Het
Afap1l2	A	G	19: 56,917,976		probably null	Het
Aox2	C	T	1: 58,307,407	Q567*	probably null	Het
Aqp4	T	A	18: 15,393,591	M278L	probably benign	Het
Atp23	A	C	10: 126,887,669	L188R	probably benign	Het
B230359F08Rik	A	G	14: 53,795,942	T103A	probably damaging	Het
Catsperg1	C	T	7: 29,206,357	G215D	probably benign	Het
Cavin4	T	C	4: 48,663,824	V68A	possibly damaging	Het
Ccl4	T	C	11: 83,662,678	S6P	unknown	Het
Cfap46	T	C	7: 139,680,831	E117G	probably damaging	Het
Chek1	A	G	9: 36,714,492	S286P	possibly damaging	Het
Cntn4	G	A	6: 106,344,786	V35I	probably benign	Het
Cntn4	C	A	6: 106,506,192	P236Q	probably benign	Het
Cyp2d40	C	A	15: 82,761,552	G84V	probably benign	Het
Dnah12	A	T	14: 26,706,834	H205L	possibly damaging	Het
Dock1	G	A	7: 134,851,576	V845I	probably benign	Het
Drg1	T	C	11: 3,266,292	K7E	possibly damaging	Het
Eloa	G	A	4: 136,009,822	P488S	probably damaging	Het
Fam53a	T	A	5: 33,600,875	L301F	probably damaging	Het
Fmnl3	T	C	15: 99,337,653	K63E	probably damaging	Het
Gast	C	A	11: 100,336,612	Q44K	probably benign	Het
Gm4788	A	G	1: 139,773,924		probably null	Het
Gng10	T	A	4: 59,035,257	V7E	probably benign	Het
Gtf3c5	G	A	2: 28,570,462	T375I	probably benign	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hspa14	A	T	2: 3,489,072		probably null	Het
Kcna3	T	C	3: 107,036,424	M1T	probably null	Het
Kcnj15	T	G	16: 95,296,236	L239R	probably damaging	Het
Klhl2	G	T	8: 64,759,808	D232E	probably benign	Het
Lamb3	A	T	1: 193,335,474	I888F	probably damaging	Het
Lars	C	A	18: 42,217,486	M919I	probably benign	Het
Lfng	T	C	5: 140,612,767	V247A	possibly damaging	Het
Lrp1b	C	T	2: 41,789,033	A16T	probably benign	Het
Mamdc2	A	T	19: 23,363,906	I235N	probably damaging	Het
Map9	T	A	3: 82,383,305	L492Q	probably damaging	Het
Mcpt8	A	G	14: 56,085,147	V14A	possibly damaging	Het
Myo1b	T	C	1: 51,768,651	K823R	probably null	Het
Nbea	G	T	3: 56,037,149	T598K	probably damaging	Het
Nrcam	C	A	12: 44,572,300	H877N	probably benign	Het
Nrxn2	T	C	19: 6,531,292		probably null	Het
Nwd2	A	T	5: 63,800,253	I309F	possibly damaging	Het
Phyhd1	G	A	2: 30,274,724		probably null	Het
Pkp2	C	T	16: 16,226,069	T229I	probably damaging	Het
Plagl2	G	A	2: 153,232,691	P97S	probably benign	Het
Plekhh2	C	A	17: 84,566,866	N526K	probably benign	Het
Plin4	A	G	17: 56,103,261	L1217P	probably benign	Het
Polr3e	T	C	7: 120,927,999	S67P	possibly damaging	Het
Postn	A	G	3: 54,385,282	K757E	probably benign	Het
Prpf39	T	A	12: 65,042,813		probably null	Het
Ptprg	C	T	14: 12,166,832	T745I	probably damaging	Het
Pxylp1	C	G	9: 96,825,254	A292P	probably damaging	Het
Rpl35	G	T	2: 39,001,742	D82E	possibly damaging	Het
Slc9a1	G	A	4: 133,422,208	V782I	possibly damaging	Het
Syn2	T	A	6: 115,263,914	M415K	possibly damaging	Het
Tmem117	A	C	15: 95,011,443	I246L	probably benign	Het
Tmem221	A	T	8: 71,558,784	V9E	probably damaging	Het
Ubxn7	T	A	16: 32,372,189		probably null	Het
Vmn2r101	G	T	17: 19,589,850	M299I	possibly damaging	Het
Vmn2r103	T	A	17: 19,794,082	S379T	probably damaging	Het
Vmn2r109	T	C	17: 20,541,178	N639S	probably benign	Het
Wdr26	T	C	1: 181,203,206			Het
Zfp109	T	A	7: 24,228,883	Y367F	probably damaging	Het
Zfp143	G	A	7: 110,086,131	C389Y	probably damaging	Het
Zfp553	G	T	7: 127,236,892		probably null	Het

Other mutations in Evi5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01142:Evi5	APN	5	107815611	missense	probably benign	0.05
IGL01458:Evi5	APN	5	107815647	missense	probably damaging	1.00
IGL01615:Evi5	APN	5	107764707	missense	probably damaging	1.00
IGL01939:Evi5	APN	5	107816924	unclassified	probably benign
IGL02170:Evi5	APN	5	107821884	missense	probably benign	0.45
IGL02539:Evi5	APN	5	107815665	missense	probably benign	0.09
IGL02655:Evi5	APN	5	107813580	missense	probably benign	0.36
IGL03040:Evi5	APN	5	107821806	missense	probably damaging	1.00
IGL03058:Evi5	APN	5	107748151	missense	probably damaging	0.98
R0125:Evi5	UTSW	5	107795772	missense	probably benign	0.06
R0172:Evi5	UTSW	5	107790462	missense	probably benign
R0334:Evi5	UTSW	5	107820535	missense	probably damaging	0.97
R0335:Evi5	UTSW	5	107812411	missense	probably benign	0.06
R0526:Evi5	UTSW	5	107821748	missense	probably benign	0.44
R0579:Evi5	UTSW	5	107821709	missense	probably benign	0.36
R0585:Evi5	UTSW	5	107813536	unclassified	probably benign
R1123:Evi5	UTSW	5	107820578	missense	probably benign	0.02
R1618:Evi5	UTSW	5	107799118	splice site	probably benign
R1699:Evi5	UTSW	5	107818920	missense	probably damaging	1.00
R1772:Evi5	UTSW	5	107795841	missense	probably benign	0.32
R1969:Evi5	UTSW	5	107748364	missense	probably benign	0.04
R1977:Evi5	UTSW	5	107799139	nonsense	probably null
R2010:Evi5	UTSW	5	107813545	critical splice donor site	probably null
R3736:Evi5	UTSW	5	107818983	missense	probably damaging	0.98
R5047:Evi5	UTSW	5	107821874	missense	probably damaging	1.00
R5252:Evi5	UTSW	5	107795752	missense	probably benign
R5350:Evi5	UTSW	5	107815678	missense	probably benign	0.08
R5552:Evi5	UTSW	5	107818989	missense	probably damaging	1.00
R5594:Evi5	UTSW	5	107820451	missense	possibly damaging	0.84
R5895:Evi5	UTSW	5	107820436	missense	probably damaging	1.00
R6364:Evi5	UTSW	5	107842113	missense	probably damaging	1.00
R6838:Evi5	UTSW	5	107842161	missense	possibly damaging	0.94
R6861:Evi5	UTSW	5	107748318	missense	probably benign	0.00
R7032:Evi5	UTSW	5	107788281	missense	probably benign	0.14
R7386:Evi5	UTSW	5	107809823	intron	probably null
R7844:Evi5	UTSW	5	107874994	missense	probably benign	0.00
R7927:Evi5	UTSW	5	107874994	missense	probably benign	0.00
X0018:Evi5	UTSW	5	107818887	critical splice donor site	probably null
X0027:Evi5	UTSW	5	107764762	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGGAATTCACGCTTCATTATGG -3'
(R):5'- TACCCAAGGTCAAGTTGTAACCC -3'

Sequencing Primer
(F):5'- AAAACCTCCTGTCCAAGG -3'
(R):5'- CCCCCTAAAACTCTTGGATCAC -3'

Posted On

2018-04-02