Mutagenetix > Incidental Mutations

Incidental Mutation 'R4387:Eno4'

326291

Institutional Source

Beutler Lab

Gene Symbol

Eno4

Ensembl Gene

ENSMUSG00000048029

Gene Name

enolase 4

Synonyms

6430537H07Rik

MMRRC Submission

041681-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4387 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58943425-58971421 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58953208 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 187 (V187D)

Ref Sequence

ENSEMBL: ENSMUSP00000062584 (fasta)

Gene Model

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

AlphaFold

Q8C042

Predicted Effect

probably benign
Transcript: ENSMUST00000054280
AA Change: V187D

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: V187D

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: V186D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: V186D

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

unknown
Transcript: ENSMUST00000202382
AA Change: V11D

SMART Domains

Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: V11D

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,316,574		probably null	Het
9930021J03Rik	A	G	19: 29,805,315		probably benign	Het
Adprm	C	T	11: 67,038,193	R324K	probably benign	Het
AI481877	A	T	4: 59,060,915	C953S	possibly damaging	Het
Calcr	T	A	6: 3,707,581	N240Y	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cd209b	A	G	8: 3,925,960	L67P	probably damaging	Het
Cp	T	C	3: 19,977,202	V601A	probably damaging	Het
Cyp2a5	A	G	7: 26,841,054	D364G	probably damaging	Het
Fbxl7	C	A	15: 26,543,259	S434I	probably damaging	Het
Fbxw24	A	T	9: 109,609,985	L174Q	probably damaging	Het
Fryl	T	A	5: 73,086,560	R91S	possibly damaging	Het
Gabrd	A	G	4: 155,388,932		probably null	Het
Gtpbp2	A	G	17: 46,166,358	D383G	probably benign	Het
Igf1r	A	G	7: 68,170,009	I356V	probably benign	Het
Kcnc1	C	A	7: 46,397,702	R9S	possibly damaging	Het
Lipi	T	A	16: 75,573,955	I125F	probably damaging	Het
Meig1	T	C	2: 3,409,241	E74G	probably damaging	Het
Mgat4d	A	T	8: 83,371,706	Q366L	probably damaging	Het
Mrpl1	A	G	5: 96,238,919	N256D	possibly damaging	Het
Nlrp4e	A	G	7: 23,301,477	K66E	probably benign	Het
Nlrp4e	A	G	7: 23,321,227	I380V	probably benign	Het
Nphp3	A	G	9: 104,030,020	T740A	possibly damaging	Het
Olfr1080	T	C	2: 86,553,954	T57A	probably damaging	Het
Olfr1090	T	A	2: 86,754,120	D206V	probably benign	Het
Olfr262	A	G	19: 12,241,139	V174A	probably damaging	Het
Pde5a	T	C	3: 122,729,352	I36T	probably benign	Het
Pign	A	T	1: 105,522,060	L914M	possibly damaging	Het
Ppm1b	A	G	17: 85,015,419	D382G	probably benign	Het
Psd3	T	C	8: 68,000,761	Y282C	probably damaging	Het
Ptprt	A	T	2: 161,927,650	Y432N	probably damaging	Het
Rbbp6	T	C	7: 122,997,311		probably null	Het
Recql4	A	G	15: 76,705,958	S659P	probably benign	Het
Rpl7a-ps3	G	A	15: 36,308,283		noncoding transcript	Het
Slit3	T	C	11: 35,684,048	V1063A	probably benign	Het
Spdye4a	A	G	5: 143,225,623	V62A	probably benign	Het
Ttc6	G	A	12: 57,643,050	G509S	probably benign	Het
Ush2a	C	T	1: 188,443,431	T1242M	probably benign	Het
Wwc2	T	C	8: 47,831,646	S1155G	unknown	Het
Zfp551	A	T	7: 12,418,641	I55N	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
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
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'- CACCTTAGAGAACATGGCTTTCC -3'
(R):5'- GGATAAAACCTTGTCACCCAGC -3'

Sequencing Primer
(F):5'- CTTGAACAAGAAAAATGGCTTCGAC -3'
(R):5'- TTGTCACCCAGCACAGCAG -3'

Posted On

2015-07-06