Mutagenetix > Incidental Mutation

Incidental Mutation 'R4240:Eno1b'

320194

Institutional Source

Beutler Lab

Gene Symbol

Eno1b

Ensembl Gene

ENSMUSG00000059040

Gene Name

enolase 1B, retrotransposed

Synonyms

Gm5506

MMRRC Submission

041057-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4240 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

48178402-48181446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48180907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 362 (S362T)

Ref Sequence

ENSEMBL: ENSMUSP00000075513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076155]

AlphaFold

P17182

Predicted Effect

probably benign
Transcript: ENSMUST00000076155
AA Change: S362T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075513
Gene: ENSMUSG00000059040
AA Change: S362T

Domain	Start	End	E-Value	Type
Enolase_N	3	134	4.75e-91	SMART
Enolase_C	142	431	1.22e-207	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

93% (50/54)

MGI Phenotype

FUNCTION: This gene may represent an evolving pseudogene of the alpha-enolase (enolase 1, alpha non-neuron) gene, which has multiple pseudogenes. This gene has an intact open reading frame as well as strong transcriptional support. The length of encoded protein is conserved, compared to the original enolase 1 protein. The exact function of this gene is unknown. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,603,478 (GRCm39)	P93S	probably benign	Het
4930488N24Rik	A	T	17: 14,326,049 (GRCm39)		noncoding transcript	Het
Areg	A	T	5: 91,291,375 (GRCm39)	N106I	probably damaging	Het
Ceacam3	G	A	7: 16,893,949 (GRCm39)	E487K	possibly damaging	Het
Cfap46	G	T	7: 139,246,203 (GRCm39)	Q387K	possibly damaging	Het
Cfap74	C	A	4: 155,547,529 (GRCm39)	H1238Q	probably benign	Het
Cnot6l	T	C	5: 96,225,221 (GRCm39)	T491A	probably benign	Het
Cog7	C	T	7: 121,524,707 (GRCm39)	V696M	possibly damaging	Het
Col22a1	C	T	15: 71,878,980 (GRCm39)	G59D	probably damaging	Het
Ddi1	A	G	9: 6,265,799 (GRCm39)	M190T	probably benign	Het
Erbb2	A	G	11: 98,318,869 (GRCm39)	K549R	probably benign	Het
Fam170a	A	T	18: 50,414,734 (GRCm39)	M127L	possibly damaging	Het
Gm1979	T	C	5: 26,206,119 (GRCm39)	T154A	probably benign	Het
Gm6871	G	T	7: 41,195,204 (GRCm39)	T511K	probably damaging	Het
Hsf4	A	G	8: 106,001,513 (GRCm39)	T378A	possibly damaging	Het
Irf2bpl	C	A	12: 86,929,691 (GRCm39)	Q327H	possibly damaging	Het
Klk6	A	G	7: 43,478,597 (GRCm39)	H168R	probably benign	Het
Kmt2d	G	A	15: 98,742,452 (GRCm39)		probably benign	Het
Kplce	T	C	3: 92,775,898 (GRCm39)	I262V	possibly damaging	Het
Lad1	T	A	1: 135,755,033 (GRCm39)	V103D	possibly damaging	Het
Mcm4	A	T	16: 15,445,570 (GRCm39)	Y692*	probably null	Het
Med15	C	T	16: 17,473,358 (GRCm39)	R497H	probably damaging	Het
Mfrp	T	C	9: 44,014,163 (GRCm39)	V177A	possibly damaging	Het
Mr1	T	C	1: 155,012,413 (GRCm39)	E167G	probably damaging	Het
Myo18b	A	G	5: 112,951,053 (GRCm39)		probably null	Het
Myom2	A	G	8: 15,182,895 (GRCm39)	D1444G	probably benign	Het
Nes	C	A	3: 87,886,666 (GRCm39)	P1598T	probably damaging	Het
Nlrp4d	A	T	7: 10,115,243 (GRCm39)	H479Q	noncoding transcript	Het
Nphp4	A	G	4: 152,640,141 (GRCm39)	D1009G	probably benign	Het
Or13a25	A	G	7: 140,247,496 (GRCm39)	N99D	probably benign	Het
Pate10	T	A	9: 35,653,449 (GRCm39)	Y84*	probably null	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Rdh7	T	C	10: 127,721,671 (GRCm39)	I202V	probably benign	Het
Rsf1	C	CGGCGGCGGT	7: 97,229,142 (GRCm39)		probably benign	Het
Sgsm3	A	G	15: 80,895,983 (GRCm39)		probably benign	Het
Sipa1l2	T	C	8: 126,218,395 (GRCm39)	E314G	probably benign	Het
Slc8a3	T	C	12: 81,361,950 (GRCm39)	K290E	probably damaging	Het
Tbc1d17	T	C	7: 44,496,250 (GRCm39)	Y84C	probably damaging	Het
Usp46	T	G	5: 74,192,928 (GRCm39)		probably benign	Het
Vmn2r14	T	G	5: 109,364,277 (GRCm39)		probably null	Het
Vmn2r8	A	T	5: 108,945,369 (GRCm39)	V746D	probably damaging	Het
Xdh	A	G	17: 74,202,790 (GRCm39)	V1120A	possibly damaging	Het
Zbtb38	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	9: 96,568,155 (GRCm39)		probably benign	Het
Zfp791	T	C	8: 85,836,295 (GRCm39)	H523R	probably null	Het
Zfp870	A	G	17: 33,104,710 (GRCm39)	I53T	probably benign	Het

Other mutations in Eno1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03196:Eno1b	APN	18	48,180,558 (GRCm39)	missense	probably damaging	1.00
R0025:Eno1b	UTSW	18	48,180,806 (GRCm39)	missense	probably benign	0.01
R0153:Eno1b	UTSW	18	48,180,806 (GRCm39)	missense	probably benign	0.01
R0173:Eno1b	UTSW	18	48,180,806 (GRCm39)	missense	probably benign	0.01
R0230:Eno1b	UTSW	18	48,180,806 (GRCm39)	missense	probably benign	0.01
R0233:Eno1b	UTSW	18	48,180,806 (GRCm39)	missense	probably benign	0.01
R0396:Eno1b	UTSW	18	48,180,806 (GRCm39)	missense	probably benign	0.01
R0597:Eno1b	UTSW	18	48,180,806 (GRCm39)	missense	probably benign	0.01
R1834:Eno1b	UTSW	18	48,180,530 (GRCm39)	missense	probably damaging	1.00
R2094:Eno1b	UTSW	18	48,180,542 (GRCm39)	missense	possibly damaging	0.92
R2875:Eno1b	UTSW	18	48,180,851 (GRCm39)	missense	possibly damaging	0.83
R4611:Eno1b	UTSW	18	48,180,770 (GRCm39)	missense	probably damaging	1.00
R6917:Eno1b	UTSW	18	48,180,656 (GRCm39)	missense	probably benign
R7114:Eno1b	UTSW	18	48,180,560 (GRCm39)	missense	possibly damaging	0.88
R7217:Eno1b	UTSW	18	48,180,746 (GRCm39)	missense	probably damaging	0.97
R7503:Eno1b	UTSW	18	48,179,878 (GRCm39)	missense	probably damaging	1.00
R8061:Eno1b	UTSW	18	48,180,725 (GRCm39)	nonsense	probably null
R9306:Eno1b	UTSW	18	48,180,922 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GAAGATCCCTTTGACCAGGACG -3'
(R):5'- CTGCCAGCAAACTTGGCTTTG -3'

Sequencing Primer
(F):5'- GACGACTGGGGCGCCTG -3'
(R):5'- AGTCTTGATCTGCCCAGT -3'

Posted On

2015-06-12