Mutagenetix > Incidental Mutations

Incidental Mutation 'R6027:Eno4'

480143

Institutional Source

Beutler Lab

Gene Symbol

Eno4

Ensembl Gene

ENSMUSG00000048029

Gene Name

enolase 4

Synonyms

6430537H07Rik

MMRRC Submission

044199-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6027 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58943425-58971421 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58946830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 158 (D158G)

Ref Sequence

ENSEMBL: ENSMUSP00000144272 (fasta)

Gene Model

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

AlphaFold

Q8C042

Predicted Effect

probably damaging
Transcript: ENSMUST00000054280
AA Change: D159G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: D159G

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 damaging
Transcript: ENSMUST00000200910
AA Change: D158G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: D158G

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

Meta Mutation Damage Score

0.4267

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (68/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	C	11: 84,398,177	V2299A	probably benign	Het
Acacb	A	G	5: 114,165,600	D28G	probably benign	Het
Adamts6	G	A	13: 104,479,535	G1035D	probably damaging	Het
Adamts7	A	C	9: 90,191,025	Y755S	probably damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Ank2	T	C	3: 126,997,879	T763A	possibly damaging	Het
Armc9	G	C	1: 86,244,667	L105F	probably damaging	Het
Asah2	T	C	19: 32,044,951	N228D	probably benign	Het
Ash1l	T	C	3: 88,985,019	Y1402H	probably damaging	Het
Aspm	T	G	1: 139,463,056	V693G	probably damaging	Het
Bptf	T	C	11: 107,074,945	E1141G	probably damaging	Het
Col12a1	C	T	9: 79,656,578		probably null	Het
Csmd2	G	A	4: 128,559,946	D3475N	unknown	Het
Dctn5	T	C	7: 122,133,341		probably benign	Het
Dhrs4	A	G	14: 55,486,123	K18E	probably benign	Het
Eci2	A	T	13: 34,985,947		probably null	Het
Efcab6	A	G	15: 83,967,721	F319L	probably benign	Het
Elane	A	T	10: 79,887,018	H86L	probably damaging	Het
Endod1	A	T	9: 14,357,597	Y197*	probably null	Het
Fam217a	T	A	13: 34,910,994	T170S	possibly damaging	Het
Fbxo7	A	G	10: 86,048,086	D517G	probably damaging	Het
Fkbp3	G	T	12: 65,073,918	A2E	possibly damaging	Het
Gan	A	G	8: 117,158,295	Y54C	probably damaging	Het
Gdap1l1	T	A	2: 163,451,611	N194K	possibly damaging	Het
Gm15448	T	C	7: 3,824,639	Y173C	possibly damaging	Het
Gnptab	A	G	10: 88,433,225	T597A	probably damaging	Het
Hmcn1	A	G	1: 150,802,895	S492P	possibly damaging	Het
Hmox1	C	A	8: 75,096,871	H56N	probably damaging	Het
Kank3	C	T	17: 33,818,114	P131S	possibly damaging	Het
Kif14	T	C	1: 136,483,059		probably null	Het
Kif1a	A	T	1: 93,025,643	M1274K	probably benign	Het
Kmt2a	A	T	9: 44,819,290		probably benign	Het
Lypla1	T	C	1: 4,837,076		probably null	Het
Man2b1	C	T	8: 85,096,752	T905I	probably damaging	Het
Mmp15	C	A	8: 95,372,176	H544N	probably benign	Het
Myh7	A	T	14: 54,970,802	N1933K	probably benign	Het
Ndst4	G	T	3: 125,713,376	A730S	probably benign	Het
Nmur1	G	A	1: 86,387,331	Q238*	probably null	Het
Nwd2	C	T	5: 63,808,220	P1716S	possibly damaging	Het
Olfr1085	T	G	2: 86,657,804	Y218S	probably damaging	Het
Olfr157	A	G	4: 43,835,842	V216A	probably benign	Het
Olfr883	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 38,026,540		probably null	Het
P2ry6	T	G	7: 100,938,508	M215L	probably benign	Het
Parp4	G	A	14: 56,629,158	E1060K	probably benign	Het
Pde10a	A	G	17: 8,964,677	I822V	possibly damaging	Het
Pkd1l1	C	A	11: 8,916,272	G528*	probably null	Het
Ptk2	T	A	15: 73,229,913	Q816L	probably damaging	Het
Ptprg	T	C	14: 12,220,613	F442L	possibly damaging	Het
Qrfpr	A	G	3: 36,222,038	Y68H	probably benign	Het
Ripk4	A	G	16: 97,744,074	W458R	probably damaging	Het
Ros1	G	T	10: 52,163,968	T309N	possibly damaging	Het
Rps27a	T	C	11: 29,547,808		probably benign	Het
Sarm1	T	A	11: 78,483,558	M577L	probably benign	Het
Scin	T	C	12: 40,077,516	Y425C	probably damaging	Het
Serpina12	T	A	12: 104,031,077	Y395F	probably benign	Het
Sfxn2	T	A	19: 46,582,852	Y69*	probably null	Het
Skint6	T	C	4: 113,096,564		probably null	Het
Slc7a1	A	C	5: 148,333,964	I564S	possibly damaging	Het
Smc6	T	A	12: 11,306,178	Y933N	probably benign	Het
Sp110	T	C	1: 85,577,318	S438G	possibly damaging	Het
St8sia4	T	A	1: 95,653,674	R114S	probably damaging	Het
Trim11	C	T	11: 58,978,463	A75V	possibly damaging	Het
Tufm	T	A	7: 126,487,748	H68Q	probably damaging	Het
Ythdc2	T	A	18: 44,860,436	D194E	probably benign	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
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'- TCGTCAGTACATCTGTGCCG -3'
(R):5'- ATAGGAATCTCTTGGGGTGGCC -3'

Sequencing Primer
(F):5'- TACATCTGTGCCGTGGCGATC -3'
(R):5'- ATGACGATCCTAAGCTCAGTGTC -3'

Posted On

2017-06-26