Mutagenetix > Incidental Mutations

Incidental Mutation 'R0334:Evi5'

26106

Institutional Source

Beutler Lab

Gene Symbol

Evi5

Ensembl Gene

ENSMUSG00000011831

Gene Name

ecotropic viral integration site 5

Synonyms

NB4S

MMRRC Submission

038543-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0334 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107744795-107875107 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 107820535 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 182 (C182F)

Ref Sequence

ENSEMBL: ENSMUSP00000119758 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000112642
AA Change: C198F

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108261
Gene: ENSMUSG00000011831
AA Change: C198F

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

possibly damaging
Transcript: ENSMUST00000124034
AA Change: C154F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121761
Gene: ENSMUSG00000011831
AA Change: C154F

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

possibly damaging
Transcript: ENSMUST00000128723
AA Change: C154F

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114845
Gene: ENSMUSG00000011831
AA Change: C154F

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 benign
Transcript: ENSMUST00000138111
AA Change: C154F

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119196
Gene: ENSMUSG00000011831
AA Change: C154F

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 damaging
Transcript: ENSMUST00000155955
AA Change: C182F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119758
Gene: ENSMUSG00000011831
AA Change: C182F

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

0.1799

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,617,129		probably benign	Het
Aggf1	T	C	13: 95,371,597	N87S	probably benign	Het
Ap2b1	T	C	11: 83,367,874		probably benign	Het
Arfgef3	A	G	10: 18,592,281	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,583,926	Q243*	probably null	Het
Atp8a2	A	T	14: 59,691,512	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,114,760		probably null	Het
Brinp2	G	T	1: 158,295,585	T37K	probably benign	Het
Bsph1	T	A	7: 13,450,939	L9*	probably null	Het
C6	T	G	15: 4,755,367	N238K	probably benign	Het
Cbs	T	C	17: 31,619,156	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,969,370	F191S	possibly damaging	Het
Cpz	A	G	5: 35,503,681	V530A	probably damaging	Het
Ctsc	G	T	7: 88,278,342	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,103,796	Y53S	probably damaging	Het
Dach1	C	T	14: 98,168,748	G188R	probably damaging	Het
Defb4	T	C	8: 19,201,204	I29T	probably benign	Het
Disc1	A	T	8: 125,261,097		probably null	Het
Dnah2	A	G	11: 69,436,836	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,433,054	I3518N	possibly damaging	Het
Dnah8	A	T	17: 30,871,351	H4609L	probably damaging	Het
Fam149b	G	A	14: 20,363,424	R237H	probably damaging	Het
Fut8	T	A	12: 77,393,762	D174E	possibly damaging	Het
Ghr	T	C	15: 3,341,098		probably benign	Het
Gm10801	G	C	2: 98,664,007	R143T	possibly damaging	Het
Gm12794	T	C	4: 101,941,584	F251L	probably benign	Het
Gm8882	T	A	6: 132,364,058	Q17L	unknown	Het
Gm9573	A	G	17: 35,622,722		probably benign	Het
Gpr176	T	C	2: 118,279,708	S357G	probably benign	Het
Grwd1	A	T	7: 45,827,177		probably null	Het
H2-T24	A	G	17: 36,014,880	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,956,038		probably benign	Het
Herc3	A	G	6: 58,918,817	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 193,242,168		probably benign	Het
Igsf23	T	C	7: 19,941,753	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,617,906	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,198,359		probably null	Het
Kdm5b	A	G	1: 134,604,522	I479M	probably damaging	Het
Kidins220	A	G	12: 25,008,069	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,552,329	I216S	probably damaging	Het
Myo1g	A	G	11: 6,511,084		probably benign	Het
Nrxn3	T	C	12: 89,813,642		probably null	Het
Olfr706	A	G	7: 106,886,415	V134A	probably benign	Het
Olfr921	A	T	9: 38,775,239		probably null	Het
Olfr943	A	G	9: 39,184,684	I169V	probably benign	Het
Pdia5	A	T	16: 35,464,390	S66T	possibly damaging	Het
Plec	T	C	15: 76,178,006	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,282,180	A654S	probably benign	Het
Pnpla2	G	A	7: 141,459,520		probably null	Het
Prkdc	A	G	16: 15,736,799	D2128G	probably benign	Het
Rabggta	A	T	14: 55,720,811	L131Q	probably damaging	Het
Rbks	A	T	5: 31,624,519	Y312*	probably null	Het
Rnf139	A	G	15: 58,899,473	Y449C	probably damaging	Het
Sbno1	A	G	5: 124,386,868	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,557,301	N321I	probably damaging	Het
Slit3	T	A	11: 35,579,101	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,680,824	S627P	probably benign	Het
Stat2	T	A	10: 128,277,867	F172I	probably damaging	Het
Tchh	C	A	3: 93,445,616	R788S	unknown	Het
Tnks	T	A	8: 34,853,259	K753*	probably null	Het
Trank1	T	A	9: 111,365,353	V815D	probably benign	Het
Trank1	T	A	9: 111,392,940	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,343	S271P	probably damaging	Het
Trpm5	T	C	7: 143,086,876	Q213R	probably benign	Het
Ulk3	C	T	9: 57,594,227		probably benign	Het
Usp31	T	C	7: 121,658,962	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,256,318	S181P	probably damaging	Het
Yipf3	T	C	17: 46,248,312	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,986,556	H1094Q	probably damaging	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
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
R6334:Evi5	UTSW	5	107820521	nonsense	probably null
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	splice site	probably null
R7844:Evi5	UTSW	5	107874994	missense	probably benign	0.00
R8248:Evi5	UTSW	5	107818887	critical splice donor site	probably null
R8298:Evi5	UTSW	5	107816865	missense	possibly damaging	0.53
X0018:Evi5	UTSW	5	107818887	critical splice donor site	probably null
X0027:Evi5	UTSW	5	107764762	missense	probably damaging	0.98
Z1177:Evi5	UTSW	5	107748379	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGAACCTGCAATGCTCAGTCAGAG -3'
(R):5'- GCAGCCCTTTAAATGTGATGGTGC -3'

Sequencing Primer
(F):5'- CATGATGGGAATTCACGCTTC -3'
(R):5'- TCACGCCTTGAAAGGCTATG -3'

Posted On

2013-04-16