Mutagenetix > Incidental Mutations

Incidental Mutation 'R4342:Evi5l'

324176

Institutional Source

Beutler Lab

Gene Symbol

Evi5l

Ensembl Gene

ENSMUSG00000011832

Gene Name

ecotropic viral integration site 5 like

Synonyms

MMRRC Submission

041100-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R4342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4166567-4211257 bp(+) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to C at 4183492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135159 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176072] [ENSMUST00000176149] [ENSMUST00000176764] [ENSMUST00000176825] [ENSMUST00000177053]

AlphaFold

H3BKQ3

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148353

Predicted Effect

probably benign
Transcript: ENSMUST00000176072

SMART Domains

Protein: ENSMUSP00000134867
Gene: ENSMUSG00000011832

Domain	Start	End	E-Value	Type
Blast:TBC	27	100	2e-7	BLAST
low complexity region	101	116	N/A	INTRINSIC
TBC	117	328	1.57e-85	SMART
internal_repeat_1	415	451	4.14e-7	PROSPERO
coiled coil region	455	478	N/A	INTRINSIC
internal_repeat_1	513	549	4.14e-7	PROSPERO
low complexity region	697	708	N/A	INTRINSIC
low complexity region	732	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176149

SMART Domains

Protein: ENSMUSP00000135479
Gene: ENSMUSG00000011832

Domain	Start	End	E-Value	Type
Blast:TBC	27	100	2e-7	BLAST
low complexity region	101	116	N/A	INTRINSIC
TBC	117	328	1.57e-85	SMART
internal_repeat_1	463	509	1.56e-7	PROSPERO
coiled coil region	513	536	N/A	INTRINSIC
internal_repeat_1	563	607	1.56e-7	PROSPERO
low complexity region	755	766	N/A	INTRINSIC
low complexity region	790	801	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176462

Predicted Effect

probably benign
Transcript: ENSMUST00000176764

SMART Domains

Protein: ENSMUSP00000134857
Gene: ENSMUSG00000011832

Domain	Start	End	E-Value	Type
Blast:TBC	27	100	4e-8	BLAST
low complexity region	101	116	N/A	INTRINSIC
TBC	117	328	1.57e-85	SMART
coiled coil region	363	452	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176825

SMART Domains

Protein: ENSMUSP00000135700
Gene: ENSMUSG00000011832

Domain	Start	End	E-Value	Type
Blast:TBC	27	100	2e-7	BLAST
low complexity region	101	116	N/A	INTRINSIC
TBC	117	328	1.57e-85	SMART
internal_repeat_1	452	498	1.86e-7	PROSPERO
coiled coil region	502	525	N/A	INTRINSIC
internal_repeat_1	552	596	1.86e-7	PROSPERO
low complexity region	744	755	N/A	INTRINSIC
low complexity region	779	790	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177053

SMART Domains

Protein: ENSMUSP00000135159
Gene: ENSMUSG00000011832

Domain	Start	End	E-Value	Type
Blast:TBC	27	100	3e-8	BLAST
low complexity region	101	116	N/A	INTRINSIC
TBC	117	328	1.57e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177077

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177499

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,516,495	C488R	probably benign	Het
Adamts19	A	T	18: 58,942,500	H489L	probably damaging	Het
Ahnak	T	C	19: 9,012,083	V3577A	possibly damaging	Het
Arhgap44	G	A	11: 65,012,061	R401*	probably null	Het
Cbx3-ps2	T	C	13: 65,559,688		noncoding transcript	Het
Ccdc174	T	A	6: 91,885,356	L86*	probably null	Het
Cd38	A	C	5: 43,869,089	I72L	probably benign	Het
Cers4	T	C	8: 4,521,223	L264P	probably damaging	Het
Cldn23	A	G	8: 35,825,498	S279P	probably benign	Het
Cth	T	A	3: 157,924,976	T19S	probably damaging	Het
Dnajc22	T	A	15: 99,104,464	L330*	probably null	Het
Epas1	G	A	17: 86,823,800	C336Y	probably damaging	Het
Fam71b	A	G	11: 46,407,216	D449G	possibly damaging	Het
Fbxl2	A	T	9: 113,985,306	H272Q	probably benign	Het
Fgd3	C	T	13: 49,273,709		probably null	Het
Fhdc1	C	A	3: 84,444,826	V1031F	probably benign	Het
Fscn1	T	C	5: 142,972,021	Y308H	probably damaging	Het
Gm5878	G	A	6: 85,125,651	R31*	probably null	Het
Gm996	A	G	2: 25,579,108	Y264H	possibly damaging	Het
Gpatch2l	T	C	12: 86,260,679	V277A	probably benign	Het
Greb1l	T	A	18: 10,544,561	M1385K	probably benign	Het
Grin2a	A	G	16: 9,653,589	I605T	possibly damaging	Het
Hoxc11	C	T	15: 102,954,671	S49F	probably damaging	Het
Igf2r	C	T	17: 12,709,511	E982K	possibly damaging	Het
Ighv10-3	A	T	12: 114,523,504	M99K	possibly damaging	Het
Itgb4	A	T	11: 115,988,729	T614S	probably benign	Het
Kcnv1	G	A	15: 45,114,444	T66M	probably damaging	Het
Mast4	A	G	13: 102,774,248	V461A	probably damaging	Het
Mcts2	G	A	2: 152,687,664	V132M	probably damaging	Het
Mical3	C	A	6: 120,934,838	E1083*	probably null	Het
Nbeal2	A	G	9: 110,631,793		probably benign	Het
Nek4	T	C	14: 30,953,906	V66A	probably damaging	Het
Nfasc	A	G	1: 132,631,705	F229S	probably damaging	Het
Nhsl1	T	C	10: 18,526,689	F1221S	probably damaging	Het
Nr1d1	T	G	11: 98,771,814	K118Q	probably damaging	Het
Ntm	T	C	9: 29,109,431	E164G	probably damaging	Het
Olfr576	A	G	7: 102,966,024	N308S	probably benign	Het
Parp1	G	T	1: 180,587,329	A411S	probably benign	Het
Pds5b	A	G	5: 150,800,854	T1301A	probably benign	Het
Pkhd1	A	G	1: 20,058,617	V3954A	probably benign	Het
Pkp4	A	T	2: 59,350,608	K739I	probably damaging	Het
Pla2g4e	T	C	2: 120,186,446		probably benign	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Ralgds	T	C	2: 28,552,095	L96P	probably damaging	Het
Rbm6	A	T	9: 107,847,247		probably benign	Het
Scp2d1	T	C	2: 144,824,167	L142P	probably damaging	Het
Setd5	AT	ATT	6: 113,111,320		probably benign	Het
Sgf29	G	A	7: 126,671,777	C143Y	probably damaging	Het
Slc22a12	A	G	19: 6,541,099	I156T	probably benign	Het
Stambpl1	A	G	19: 34,234,046	Q169R	probably benign	Het
Tex2	T	C	11: 106,567,006		probably benign	Het
Trip11	A	T	12: 101,884,316	I878N	probably damaging	Het
Ttf1	C	T	2: 29,065,476	S284L	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Ugt2b5	A	T	5: 87,139,723	V195E	probably damaging	Het
Vmn1r14	T	A	6: 57,233,823	Y85N	probably benign	Het
Wdyhv1	T	C	15: 58,152,714	S120P	probably benign	Het
Zfp131	C	T	13: 119,776,018	R268H	probably damaging	Het

Other mutations in Evi5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Evi5l	APN	8	4193219	critical splice donor site	probably null
IGL02143:Evi5l	APN	8	4191293	missense	probably damaging	0.99
IGL02322:Evi5l	APN	8	4187236	splice site	probably benign
IGL02528:Evi5l	APN	8	4193172	missense	probably benign	0.25
IGL02822:Evi5l	APN	8	4187248	missense	probably damaging	1.00
R0280:Evi5l	UTSW	8	4193133	missense	probably damaging	1.00
R1764:Evi5l	UTSW	8	4203560	missense	probably damaging	0.98
R2032:Evi5l	UTSW	8	4210622	missense	probably damaging	1.00
R2158:Evi5l	UTSW	8	4193195	missense	probably damaging	0.99
R2175:Evi5l	UTSW	8	4187269	missense	probably damaging	1.00
R2357:Evi5l	UTSW	8	4193113	splice site	probably benign
R3055:Evi5l	UTSW	8	4191603	nonsense	probably null
R3724:Evi5l	UTSW	8	4178080	intron	probably benign
R3956:Evi5l	UTSW	8	4191358	missense	possibly damaging	0.72
R4621:Evi5l	UTSW	8	4202909	intron	probably benign
R4622:Evi5l	UTSW	8	4202909	intron	probably benign
R4959:Evi5l	UTSW	8	4205406	missense	probably benign	0.00
R4973:Evi5l	UTSW	8	4205406	missense	probably benign	0.00
R5052:Evi5l	UTSW	8	4206019	intron	probably benign
R5097:Evi5l	UTSW	8	4193317	missense	probably damaging	0.97
R5344:Evi5l	UTSW	8	4185990	missense	possibly damaging	0.78
R5357:Evi5l	UTSW	8	4203623	missense	possibly damaging	0.63
R5376:Evi5l	UTSW	8	4210770	missense	probably damaging	0.99
R5382:Evi5l	UTSW	8	4178653	intron	probably benign
R5500:Evi5l	UTSW	8	4191658	missense	probably damaging	0.96
R5554:Evi5l	UTSW	8	4206491	splice site	probably benign
R5689:Evi5l	UTSW	8	4205460	nonsense	probably null
R5788:Evi5l	UTSW	8	4206800	utr 3 prime	probably benign
R6321:Evi5l	UTSW	8	4203080	missense	probably benign
R6520:Evi5l	UTSW	8	4205906	missense	possibly damaging	0.76
R6620:Evi5l	UTSW	8	4206674	missense	possibly damaging	0.84
R6707:Evi5l	UTSW	8	4206322	missense	probably benign
R7232:Evi5l	UTSW	8	4205906	missense	possibly damaging	0.71
R7692:Evi5l	UTSW	8	4200886	missense	probably damaging	1.00
R7985:Evi5l	UTSW	8	4203536	missense	probably benign	0.27
R8162:Evi5l	UTSW	8	4191300	missense	probably damaging	1.00
R8474:Evi5l	UTSW	8	4210784	missense	possibly damaging	0.94
R8512:Evi5l	UTSW	8	4193121	missense	probably benign	0.01
R8758:Evi5l	UTSW	8	4205860	missense	probably benign	0.13
R8970:Evi5l	UTSW	8	4186154	splice site	probably benign
R9138:Evi5l	UTSW	8	4183582	missense	probably benign	0.03
X0062:Evi5l	UTSW	8	4191303	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGCTGCTGGATTTGAGCC -3'
(R):5'- AGGAAGCCAGGAATCAGCTC -3'

Sequencing Primer
(F):5'- CCTTGGTTGTTGGTTGTAGCACATAG -3'
(R):5'- GCCAGGAATCAGCTCCCTCC -3'

Posted On

2015-06-24