Mutagenetix > Incidental Mutation

Incidental Mutation 'R0362:Eno4'

36306

Institutional Source

Beutler Lab

Gene Symbol

Eno4

Ensembl Gene

ENSMUSG00000048029

Gene Name

enolase 4

Synonyms

6430537H07Rik

MMRRC Submission

038568-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R0362 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

58931857-58959853 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 58932056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144272 (fasta)

Gene Model

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

AlphaFold

Q8C042

Predicted Effect

probably benign
Transcript: ENSMUST00000054280

SMART Domains

Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029

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

SMART Domains

Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (104/105)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,563,261 (GRCm39)	Q401R	probably benign	Het
Acp3	A	G	9: 104,191,626 (GRCm39)	F220S	probably damaging	Het
Adam7	A	G	14: 68,747,105 (GRCm39)		probably benign	Het
Adamts6	A	G	13: 104,526,584 (GRCm39)		probably null	Het
Ascc3	T	C	10: 50,625,051 (GRCm39)		probably benign	Het
Atg10	T	C	13: 91,189,109 (GRCm39)		probably null	Het
Atm	T	C	9: 53,370,138 (GRCm39)	I2325V	possibly damaging	Het
Btnl9	C	T	11: 49,060,443 (GRCm39)	R435H	possibly damaging	Het
Ccdc180	A	G	4: 45,923,551 (GRCm39)	K1111E	probably damaging	Het
Ciao2b	T	C	8: 105,368,222 (GRCm39)	D34G	probably null	Het
Col11a2	T	A	17: 34,281,420 (GRCm39)		probably null	Het
Ctcfl	A	G	2: 172,960,236 (GRCm39)	W116R	probably damaging	Het
Ctsk	A	T	3: 95,408,255 (GRCm39)	Y37F	probably damaging	Het
Daam2	G	C	17: 49,787,813 (GRCm39)		probably null	Het
Dcdc2b	T	C	4: 129,504,031 (GRCm39)		probably null	Het
Ddx28	C	T	8: 106,737,926 (GRCm39)	R44Q	probably damaging	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Dnah17	A	T	11: 117,989,365 (GRCm39)	M1281K	probably benign	Het
Dnah6	T	C	6: 73,185,592 (GRCm39)	S110G	probably benign	Het
Drc7	T	C	8: 95,799,483 (GRCm39)	Y553H	probably benign	Het
Dync2h1	T	C	9: 7,005,487 (GRCm39)		probably null	Het
Ecm1	A	G	3: 95,644,369 (GRCm39)	I152T	possibly damaging	Het
Edc4	C	G	8: 106,613,407 (GRCm39)	P307R	probably damaging	Het
Eeig2	C	T	3: 108,887,497 (GRCm39)	E256K	probably benign	Het
Egr1	A	G	18: 34,996,366 (GRCm39)	T383A	possibly damaging	Het
Eml2	A	G	7: 18,924,731 (GRCm39)		probably null	Het
Erbb4	A	T	1: 68,369,429 (GRCm39)	I404K	probably damaging	Het
Exoc7	G	T	11: 116,186,488 (GRCm39)	T310K	probably benign	Het
Fam83e	G	T	7: 45,376,393 (GRCm39)	V369L	probably benign	Het
Fancc	A	T	13: 63,545,970 (GRCm39)	I91K	possibly damaging	Het
Fbn1	T	C	2: 125,151,697 (GRCm39)	Q2519R	probably damaging	Het
Fhod3	T	A	18: 25,223,133 (GRCm39)	C826*	probably null	Het
Foxi3	A	G	6: 70,933,612 (GRCm39)	D33G	probably benign	Het
Gcn1	T	C	5: 115,714,167 (GRCm39)		probably benign	Het
Gm14221	T	C	2: 160,410,310 (GRCm39)		noncoding transcript	Het
Golga4	T	A	9: 118,384,853 (GRCm39)	H630Q	probably benign	Het
Gpat4	T	C	8: 23,670,949 (GRCm39)	S88G	probably benign	Het
Gucy2d	A	T	7: 98,092,892 (GRCm39)	S90C	probably damaging	Het
Has2	A	C	15: 56,545,057 (GRCm39)	C182G	probably damaging	Het
Heatr5a	A	T	12: 51,935,644 (GRCm39)	S1647R	probably damaging	Het
Ifi35	T	C	11: 101,348,038 (GRCm39)	V48A	probably benign	Het
Lig1	T	A	7: 13,030,730 (GRCm39)		probably benign	Het
Magi2	A	G	5: 19,432,573 (GRCm39)	K96R	probably damaging	Het
Map7d1	G	T	4: 126,128,787 (GRCm39)	P462Q	probably damaging	Het
Mdn1	A	T	4: 32,746,439 (GRCm39)		probably null	Het
Mfsd4a	A	T	1: 131,987,013 (GRCm39)	V105E	probably damaging	Het
Mrpl53	C	T	6: 83,086,526 (GRCm39)	R77C	probably damaging	Het
Mtnr1b	C	T	9: 15,785,600 (GRCm39)	V53M	probably damaging	Het
Myo9b	T	C	8: 71,800,414 (GRCm39)	W990R	probably damaging	Het
Myt1	A	T	2: 181,405,186 (GRCm39)		probably benign	Het
Nf1	C	T	11: 79,427,704 (GRCm39)	A1766V	probably damaging	Het
Nlrp3	T	C	11: 59,439,623 (GRCm39)	V400A	possibly damaging	Het
Nup205	T	A	6: 35,173,649 (GRCm39)		probably null	Het
Nxf1	T	C	19: 8,741,515 (GRCm39)		probably null	Het
Or7a36	A	T	10: 78,820,220 (GRCm39)	M199L	probably benign	Het
P4hb	T	C	11: 120,454,162 (GRCm39)	K311E	probably benign	Het
Pafah1b1	T	C	11: 74,574,457 (GRCm39)	N243S	probably benign	Het
Parp8	G	A	13: 117,061,504 (GRCm39)	Q141*	probably null	Het
Pkd2l2	A	C	18: 34,568,380 (GRCm39)	D543A	probably benign	Het
Pld5	A	T	1: 175,803,146 (GRCm39)	L311*	probably null	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Plpp5	A	T	8: 26,214,219 (GRCm39)	T144S	probably benign	Het
Ppp6r3	A	G	19: 3,528,285 (GRCm39)	L542S	probably damaging	Het
Prkar2b	A	T	12: 32,037,973 (GRCm39)		probably null	Het
Psmg1	A	T	16: 95,789,171 (GRCm39)	S129T	possibly damaging	Het
Radil	T	C	5: 142,529,582 (GRCm39)	D38G	probably benign	Het
Ric1	T	C	19: 29,578,411 (GRCm39)		probably null	Het
Rp1l1	T	A	14: 64,268,515 (GRCm39)	L1367*	probably null	Het
Rxfp1	A	T	3: 79,645,100 (GRCm39)	M1K	probably null	Het
Serpina6	G	T	12: 103,618,208 (GRCm39)	L202I	probably damaging	Het
Simc1	T	C	13: 54,676,280 (GRCm39)	I98T	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Slc26a11	T	A	11: 119,270,767 (GRCm39)		probably benign	Het
Slc34a1	T	A	13: 55,550,711 (GRCm39)		probably null	Het
Slfn10-ps	T	A	11: 82,926,600 (GRCm39)		noncoding transcript	Het
Sohlh2	A	G	3: 55,115,163 (GRCm39)	N383D	probably damaging	Het
Spag6	T	A	2: 18,715,302 (GRCm39)	L27H	probably damaging	Het
Sptlc3	A	G	2: 139,388,475 (GRCm39)		probably benign	Het
St3gal4	T	A	9: 34,964,469 (GRCm39)	K199*	probably null	Het
Stat5a	T	A	11: 100,772,909 (GRCm39)	D712E	probably benign	Het
Stmn2	A	T	3: 8,610,750 (GRCm39)	D78V	probably damaging	Het
Stpg1	C	T	4: 135,233,777 (GRCm39)	P20S	possibly damaging	Het
Taf2	A	T	15: 54,909,325 (GRCm39)	V640E	probably damaging	Het
Tbce	T	C	13: 14,172,747 (GRCm39)	E501G	probably benign	Het
Tecpr2	A	G	12: 110,935,374 (GRCm39)	S1398G	probably damaging	Het
Tenm4	T	A	7: 96,421,242 (GRCm39)	Y598*	probably null	Het
Ticrr	A	G	7: 79,327,088 (GRCm39)	S599G	probably damaging	Het
Tnc	A	C	4: 63,935,679 (GRCm39)	V419G	probably damaging	Het
Trappc1	C	A	11: 69,216,402 (GRCm39)	P110T	probably benign	Het
Trbv12-2	C	T	6: 41,095,993 (GRCm39)		probably benign	Het
Ttbk2	A	T	2: 120,576,264 (GRCm39)	N835K	possibly damaging	Het
Tubgcp5	A	G	7: 55,450,432 (GRCm39)	D181G	probably damaging	Het
Tut1	T	C	19: 8,932,891 (GRCm39)	Y75H	possibly damaging	Het
Ulk2	C	A	11: 61,678,412 (GRCm39)	C769F	probably benign	Het
Vdac1	T	C	11: 52,265,800 (GRCm39)		probably benign	Het
Vmn2r124	T	C	17: 18,284,486 (GRCm39)		probably null	Het
Vps8	T	C	16: 21,426,977 (GRCm39)		probably benign	Het
Wdr35	T	C	12: 9,045,625 (GRCm39)		probably benign	Het
Zdhhc7	T	A	8: 120,813,386 (GRCm39)	E141V	probably null	Het
Zfp12	C	A	5: 143,230,978 (GRCm39)	S435Y	probably damaging	Het
Zfp974	A	T	7: 27,626,819 (GRCm39)		probably benign	Het
Zfyve9	T	A	4: 108,538,166 (GRCm39)	K1033N	probably damaging	Het
Zswim8	T	A	14: 20,772,013 (GRCm39)	S1572T	possibly damaging	Het

Other mutations in Eno4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01672:Eno4	APN	19	58,931,977 (GRCm39)	missense	possibly damaging	0.92
IGL02486:Eno4	APN	19	58,934,097 (GRCm39)	splice site	probably null
IGL03087:Eno4	APN	19	58,951,248 (GRCm39)	missense	possibly damaging	0.55
IGL03207:Eno4	APN	19	58,941,637 (GRCm39)	missense	probably benign	0.04
R0048:Eno4	UTSW	19	58,952,970 (GRCm39)	missense	possibly damaging	0.70
R0052:Eno4	UTSW	19	58,956,985 (GRCm39)	missense	probably damaging	1.00
R0052:Eno4	UTSW	19	58,956,985 (GRCm39)	missense	probably damaging	1.00
R2376:Eno4	UTSW	19	58,941,658 (GRCm39)	missense	probably benign
R4387:Eno4	UTSW	19	58,941,640 (GRCm39)	missense	probably benign	0.01
R4678:Eno4	UTSW	19	58,935,181 (GRCm39)	missense	probably damaging	0.99
R4696:Eno4	UTSW	19	58,934,068 (GRCm39)	missense	probably damaging	0.96
R4896:Eno4	UTSW	19	58,952,975 (GRCm39)	missense	probably damaging	1.00
R4932:Eno4	UTSW	19	58,952,889 (GRCm39)	missense	possibly damaging	0.82
R5050:Eno4	UTSW	19	58,943,928 (GRCm39)	missense	probably benign	0.00
R5092:Eno4	UTSW	19	58,934,023 (GRCm39)	missense	probably benign	0.02
R5104:Eno4	UTSW	19	58,933,973 (GRCm39)	missense	probably benign	0.05
R5300:Eno4	UTSW	19	58,943,982 (GRCm39)	critical splice donor site	probably null
R5450:Eno4	UTSW	19	58,948,679 (GRCm39)	missense	possibly damaging	0.65
R5689:Eno4	UTSW	19	58,959,088 (GRCm39)	missense	probably benign	0.01
R5698:Eno4	UTSW	19	58,956,904 (GRCm39)	splice site	probably null
R5874:Eno4	UTSW	19	58,935,238 (GRCm39)	missense	probably benign
R6027:Eno4	UTSW	19	58,935,262 (GRCm39)	missense	probably damaging	1.00
R6316:Eno4	UTSW	19	58,948,723 (GRCm39)	critical splice donor site	probably null
R6494:Eno4	UTSW	19	58,951,226 (GRCm39)	missense	probably damaging	1.00
R6706:Eno4	UTSW	19	58,959,112 (GRCm39)	missense	probably benign	0.02
R7779:Eno4	UTSW	19	58,956,975 (GRCm39)	missense	probably benign	0.19
R8169:Eno4	UTSW	19	58,935,084 (GRCm39)	missense	probably benign
R8879:Eno4	UTSW	19	58,959,154 (GRCm39)	missense	probably benign	0.05
R9090:Eno4	UTSW	19	58,951,260 (GRCm39)	missense	probably benign	0.01
R9093:Eno4	UTSW	19	58,941,600 (GRCm39)	nonsense	probably null
R9271:Eno4	UTSW	19	58,951,260 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GTTGCGTTGCCTAGCGACAAAAG -3'
(R):5'- AAAAGAAGCTCGCCAGTCTCGGAG -3'

Sequencing Primer
(F):5'- CTGGCAAAACCCCGCTG -3'
(R):5'- TGAGCTACAGACCCATTCAGG -3'

Posted On

2013-05-09