Mutagenetix > Incidental Mutation

Incidental Mutation 'R0048:Eno4'

15814

Institutional Source

Beutler Lab

Gene Symbol

Eno4

Ensembl Gene

ENSMUSG00000048029

Gene Name

enolase 4

Synonyms

6430537H07Rik

MMRRC Submission

038342-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R0048 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

58931857-58959853 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58952970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 328 (M328T)

Ref Sequence

ENSEMBL: ENSMUSP00000144656 (fasta)

Gene Model

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

AlphaFold

Q8C042

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054280
AA Change: M504T

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000062584
Gene: ENSMUSG00000048029
AA Change: M504T

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

possibly damaging
Transcript: ENSMUST00000200910
AA Change: M503T

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144272
Gene: ENSMUSG00000048029
AA Change: M503T

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

possibly damaging
Transcript: ENSMUST00000202382
AA Change: M328T

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144656
Gene: ENSMUSG00000048029
AA Change: M328T

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

Meta Mutation Damage Score

0.1373

Coding Region Coverage

1x: 90.1%
3x: 87.7%
10x: 82.5%
20x: 75.5%

Validation Efficiency

94% (92/98)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,140,563 (GRCm39)	I299T	probably benign	Het
Ankrd12	A	G	17: 66,291,798 (GRCm39)	S1212P	probably damaging	Het
Ankrd50	A	G	3: 38,537,198 (GRCm39)	S52P	probably benign	Het
Aox1	A	G	1: 58,112,371 (GRCm39)	E715G	probably damaging	Het
Arid1b	T	C	17: 5,364,309 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Btaf1	G	T	19: 36,980,924 (GRCm39)	A1582S	probably benign	Het
Cblif	G	A	19: 11,727,120 (GRCm39)	V110M	possibly damaging	Het
Ccdc184	G	A	15: 98,066,341 (GRCm39)	A49T	probably damaging	Het
Cd109	A	C	9: 78,587,303 (GRCm39)	Y657S	possibly damaging	Het
Cfap53	A	T	18: 74,432,244 (GRCm39)	Y44F	probably benign	Het
Cped1	T	A	6: 22,119,601 (GRCm39)	N353K	probably benign	Het
Dcaf10	T	G	4: 45,374,262 (GRCm39)	Y562*	probably null	Het
Etv3l	T	C	3: 87,462,275 (GRCm39)		noncoding transcript	Het
Eya2	T	A	2: 165,557,931 (GRCm39)	Y176N	probably damaging	Het
Fat2	G	T	11: 55,200,865 (GRCm39)	H736Q	probably benign	Het
Fgfr2	A	T	7: 129,782,218 (GRCm39)		probably benign	Het
Grhl1	A	T	12: 24,662,150 (GRCm39)		probably benign	Het
H60b	T	A	10: 22,163,130 (GRCm39)	M235K	probably benign	Het
Hal	T	A	10: 93,334,853 (GRCm39)	Y395N	probably damaging	Het
Hmcn2	T	C	2: 31,318,249 (GRCm39)	S3865P	possibly damaging	Het
Inpp5j	A	G	11: 3,451,417 (GRCm39)	V463A	probably damaging	Het
Iqgap3	A	T	3: 88,023,256 (GRCm39)	T516S	probably benign	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Jmjd4	C	A	11: 59,344,778 (GRCm39)	H244N	probably benign	Het
Klkb1	G	A	8: 45,742,233 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,496,474 (GRCm39)	Y1578F	probably damaging	Het
Lrp2	A	T	2: 69,295,971 (GRCm39)	D3379E	probably damaging	Het
Lrrfip1	C	T	1: 91,021,369 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,192,727 (GRCm39)	Y23C	probably damaging	Het
Mfsd12	G	A	10: 81,198,648 (GRCm39)	V380I	possibly damaging	Het
Mroh9	G	A	1: 162,890,056 (GRCm39)	T227M	probably damaging	Het
Mtor	C	T	4: 148,623,338 (GRCm39)	Q2063*	probably null	Het
Ncstn	A	G	1: 171,897,528 (GRCm39)		probably benign	Het
Nek9	T	C	12: 85,348,673 (GRCm39)	T954A	probably benign	Het
Nlrc5	A	T	8: 95,201,284 (GRCm39)	Y126F	possibly damaging	Het
Nr1d1	A	G	11: 98,661,304 (GRCm39)	S321P	probably benign	Het
Or13c3	C	A	4: 52,856,196 (GRCm39)	A106S	probably damaging	Het
Pkn2	T	C	3: 142,516,588 (GRCm39)	I513V	probably damaging	Het
Pls1	T	C	9: 95,669,116 (GRCm39)	E35G	probably damaging	Het
Polr3a	A	G	14: 24,519,323 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,540,728 (GRCm39)	V260A	possibly damaging	Het
Rabgap1l	A	G	1: 160,454,939 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,539,764 (GRCm39)	K423E	probably benign	Het
Rbm27	A	G	18: 42,431,529 (GRCm39)	D112G	probably benign	Het
Rbm46	A	T	3: 82,771,537 (GRCm39)	S359R	probably damaging	Het
Rhobtb3	A	T	13: 76,050,364 (GRCm39)	*100R	probably null	Het
Ryr2	T	C	13: 11,610,670 (GRCm39)	E4052G	probably damaging	Het
Sart3	G	T	5: 113,893,458 (GRCm39)	D346E	possibly damaging	Het
Sgsm1	A	G	5: 113,416,616 (GRCm39)	F629S	probably damaging	Het
Siglec1	T	C	2: 130,915,317 (GRCm39)	T1425A	possibly damaging	Het
Slc12a2	A	T	18: 58,048,594 (GRCm39)		probably benign	Het
Slc38a10	G	T	11: 120,001,138 (GRCm39)	P561T	probably benign	Het
Slc45a4	A	G	15: 73,477,285 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,558,146 (GRCm39)		probably benign	Het
Son	T	A	16: 91,455,865 (GRCm39)	H1537Q	possibly damaging	Het
Synpo2l	A	T	14: 20,716,340 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,174,269 (GRCm39)	Y846H	probably damaging	Het
Tgfb1	T	A	7: 25,393,779 (GRCm39)		probably benign	Het
Tigd2	C	A	6: 59,188,369 (GRCm39)	T412K	possibly damaging	Het
Umodl1	A	T	17: 31,187,451 (GRCm39)	N172Y	probably damaging	Het
Urah	C	T	7: 140,416,665 (GRCm39)	T46I	probably damaging	Het
Usp8	C	T	2: 126,579,809 (GRCm39)	P353L	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vps13a	A	T	19: 16,653,504 (GRCm39)	V1959E	probably damaging	Het
Wdr76	C	T	2: 121,365,900 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,569,729 (GRCm39)	V452M	probably damaging	Het
Zbtb41	A	G	1: 139,369,572 (GRCm39)	K650E	probably damaging	Het
Zfp532	A	G	18: 65,777,404 (GRCm39)	Y887C	probably 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
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
R0362:Eno4	UTSW	19	58,932,056 (GRCm39)	splice site	probably benign
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

Posted On

2013-01-08