Mutagenetix > Incidental Mutations

Incidental Mutation 'R6706:Eno4'

528963

Institutional Source

Beutler Lab

Gene Symbol

Eno4

Ensembl Gene

ENSMUSG00000048029

Gene Name

enolase 4

Synonyms

6430537H07Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6706 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58943425-58971421 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58970680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 411 (E411D)

Ref Sequence

ENSEMBL: ENSMUSP00000144656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047511] [ENSMUST00000054280] [ENSMUST00000163821] [ENSMUST00000200910] [ENSMUST00000202382]

AlphaFold

Q8C042

Predicted Effect

probably benign
Transcript: ENSMUST00000047511

SMART Domains

Protein: ENSMUSP00000041378
Gene: ENSMUSG00000041362

Domain	Start	End	E-Value	Type
coiled coil region	7	59	N/A	INTRINSIC
low complexity region	120	132	N/A	INTRINSIC
coiled coil region	137	233	N/A	INTRINSIC
coiled coil region	259	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000054280
AA Change: E599D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: E599D

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: ENSMUST00000163821

SMART Domains

Protein: ENSMUSP00000126227
Gene: ENSMUSG00000041362

Domain	Start	End	E-Value	Type
internal_repeat_1	59	77	1.42e-6	PROSPERO
low complexity region	120	132	N/A	INTRINSIC
internal_repeat_1	207	225	1.42e-6	PROSPERO
coiled coil region	259	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200910
AA Change: E598D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: E598D

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

probably benign
Transcript: ENSMUST00000201123

Predicted Effect

probably benign
Transcript: ENSMUST00000202382
AA Change: E411D

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: E411D

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

97% (36/37)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 43,651,442	K389*	probably null	Het
Adam6a	T	G	12: 113,545,266	F420V	probably benign	Het
Alpl	T	C	4: 137,746,429	T321A	probably benign	Het
Asxl3	A	G	18: 22,453,609	D152G	probably damaging	Het
B4galt4	A	G	16: 38,757,811	T207A	probably benign	Het
Bsph2	A	T	7: 13,571,047	M1K	probably null	Het
Cacna2d1	T	A	5: 16,326,340	L535Q	probably damaging	Het
Cacna2d3	T	C	14: 29,124,685		probably null	Het
Chrdl2	T	C	7: 100,010,121		probably null	Het
Ctdnep1	A	G	11: 69,984,312	N54S	probably benign	Het
Dclre1a	A	T	19: 56,545,069	D364E	probably benign	Het
Dock1	A	G	7: 135,133,886	I1328V	possibly damaging	Het
Fbxl14	A	G	6: 119,480,755	Y299C	probably benign	Het
Fhdc1	T	C	3: 84,446,422	S499G	probably damaging	Het
Hectd4	C	T	5: 121,320,084	T771I	possibly damaging	Het
Kansl3	A	G	1: 36,344,914		probably null	Het
Letm2	G	A	8: 25,593,961	H85Y	probably benign	Het
Map3k6	A	T	4: 133,250,939	K1031*	probably null	Het
Mfsd4b5	T	A	10: 39,986,417	T37S	probably benign	Het
Mgam	T	A	6: 40,744,786	V346D	probably benign	Het
Myrip	C	T	9: 120,388,293	H98Y	possibly damaging	Het
Nos2	A	G	11: 78,944,723	N443D	possibly damaging	Het
Notch2	A	T	3: 98,138,430	D1637V	possibly damaging	Het
Olfr1260	T	A	2: 89,978,585	V269E	probably damaging	Het
Olfr1347	G	A	7: 6,488,050	R275C	probably damaging	Het
Pank1	C	T	19: 34,812,386	G530D	probably damaging	Het
Pde4dip	G	T	3: 97,741,393	R1036S	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Plin2	T	C	4: 86,660,120	T247A	probably benign	Het
Rp1	T	A	1: 4,142,664	I1067F	unknown	Het
Serpinb9d	T	A	13: 33,196,558	N142K	probably benign	Het
Slc12a5	A	G	2: 164,988,589	Y639C	probably damaging	Het
Tfap2c	A	G	2: 172,557,356	M508V	probably benign	Het
Tmprss11d	T	C	5: 86,331,103	N147S	probably benign	Het
Togaram1	T	A	12: 65,002,609	N1273K	probably benign	Het
Ttn	G	A	2: 76,879,343	R1581*	probably null	Het
Uggt2	T	A	14: 119,070,881	I363F	probably damaging	Het
Vmn2r63	T	A	7: 42,928,577	D179V	probably 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
IGL03087:Eno4	APN	19	58962816	missense	possibly damaging	0.55
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
R7779:Eno4	UTSW	19	58968543	missense	probably benign	0.19
R8169:Eno4	UTSW	19	58946652	missense	probably benign
R8879:Eno4	UTSW	19	58970722	missense	probably benign	0.05
R9090:Eno4	UTSW	19	58962828	missense	probably benign	0.01
R9093:Eno4	UTSW	19	58953168	nonsense	probably null
R9271:Eno4	UTSW	19	58962828	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GACTGTTCTGAGAGCTCTGG -3'
(R):5'- CGAAAGCATGCACACGTTGG -3'

Sequencing Primer
(F):5'- CTGAGAGCTCTGGATCCTTTTG -3'
(R):5'- ACGTTGGTGATTATACTCATTTACGG -3'

Posted On

2018-07-24