Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Eno4'

418175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eno4

Ensembl Gene

ENSMUSG00000048029

Gene Name

enolase 4

Synonyms

6430537H07Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

58943425-58971421 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58962816 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 420 (H420R)

Ref Sequence

ENSEMBL: ENSMUSP00000062584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054280] [ENSMUST00000200910] [ENSMUST00000202382]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054280
AA Change: H420R

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: H420R

Domain	Start	End	E-Value	Type
Blast:Enolase_C	29	55	6e-8	BLAST
Enolase_N	69	264	1.06e-20	SMART
Enolase_C	276	585	7.85e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000200910
AA Change: H419R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: H419R

Domain	Start	End	E-Value	Type
Blast:Enolase_C	29	55	6e-8	BLAST
Enolase_N	68	263	1.06e-20	SMART
Enolase_C	275	584	7.85e-42	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000201123
AA Change: H136R

Predicted Effect

probably benign
Transcript: ENSMUST00000202382
AA Change: H244R

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: H244R

Domain	Start	End	E-Value	Type
Blast:Enolase_N	1	88	1e-22	BLAST
Enolase_C	100	409	2.1e-45	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit male infertility associated with abnormal sperm morphology, number and motility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Igsf9	T	C	1: 172,490,743	I150T	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Eno4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Eno4	APN	19	58943545	missense	possibly damaging	0.92
IGL02486:Eno4	APN	19	58945665	splice site	probably null
IGL03207:Eno4	APN	19	58953205	missense	probably benign	0.04
R0048:Eno4	UTSW	19	58964538	missense	possibly damaging	0.70
R0052:Eno4	UTSW	19	58968553	missense	probably damaging	1.00
R0052:Eno4	UTSW	19	58968553	missense	probably damaging	1.00
R0362:Eno4	UTSW	19	58943624	splice site	probably benign
R2376:Eno4	UTSW	19	58953226	missense	probably benign
R4387:Eno4	UTSW	19	58953208	missense	probably benign	0.01
R4678:Eno4	UTSW	19	58946749	missense	probably damaging	0.99
R4696:Eno4	UTSW	19	58945636	missense	probably damaging	0.96
R4896:Eno4	UTSW	19	58964543	missense	probably damaging	1.00
R4932:Eno4	UTSW	19	58964457	missense	possibly damaging	0.82
R5050:Eno4	UTSW	19	58955496	missense	probably benign	0.00
R5092:Eno4	UTSW	19	58945591	missense	probably benign	0.02
R5104:Eno4	UTSW	19	58945541	missense	probably benign	0.05
R5300:Eno4	UTSW	19	58955550	critical splice donor site	probably null
R5450:Eno4	UTSW	19	58960247	missense	possibly damaging	0.65
R5689:Eno4	UTSW	19	58970656	missense	probably benign	0.01
R5698:Eno4	UTSW	19	58968472	splice site	probably null
R5874:Eno4	UTSW	19	58946806	missense	probably benign
R6027:Eno4	UTSW	19	58946830	missense	probably damaging	1.00
R6316:Eno4	UTSW	19	58960291	critical splice donor site	probably null
R6494:Eno4	UTSW	19	58962794	missense	probably damaging	1.00
R6706:Eno4	UTSW	19	58970680	missense	probably benign	0.02
R7779:Eno4	UTSW	19	58968543	missense	probably benign	0.19
R8169:Eno4	UTSW	19	58946652	missense	probably benign

Posted On

2016-08-02