Mutagenetix > Incidental Mutations

Incidental Mutation 'R2094:Eno1b'

232006

Institutional Source

Beutler Lab

Gene Symbol

Eno1b

Ensembl Gene

ENSMUSG00000059040

Gene Name

enolase 1B, retrotransposed

Synonyms

Gm5506

MMRRC Submission

040098-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R2094 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

48045335-48048378 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48047475 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 240 (V240A)

Ref Sequence

ENSEMBL: ENSMUSP00000075513 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076155
AA Change: V240A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075513
Gene: ENSMUSG00000059040
AA Change: V240A

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 193,174,846	I169V	probably benign	Het
Arrdc5	A	G	17: 56,297,856	S144P	probably benign	Het
Astn1	A	G	1: 158,667,609	M92V	probably benign	Het
Atg5	A	G	10: 44,319,548	I189M	probably damaging	Het
Atmin	A	G	8: 116,957,538	T646A	probably damaging	Het
Atp1a2	G	A	1: 172,287,433	R262W	probably damaging	Het
Atp6v1g2	A	G	17: 35,236,809	K16E	probably damaging	Het
Bex6	G	A	16: 32,186,460	E29K	possibly damaging	Het
Casd1	A	G	6: 4,608,705	Y101C	probably damaging	Het
Cdx1	T	C	18: 61,035,912	D70G	possibly damaging	Het
Cebpz	T	C	17: 78,935,554	T224A	probably benign	Het
Cep170b	T	C	12: 112,735,730	V319A	possibly damaging	Het
Chrna2	C	T	14: 66,149,463	R353W	possibly damaging	Het
Chst5	A	T	8: 111,890,544	V148E	probably benign	Het
Clhc1	T	A	11: 29,557,771	W162R	probably benign	Het
Csmd1	T	A	8: 16,079,978	Q1710L	probably damaging	Het
Ddb1	A	C	19: 10,612,936	M276L	probably benign	Het
Dot1l	C	T	10: 80,785,878	R455C	probably damaging	Het
Dync2h1	A	G	9: 7,148,735	V903A	probably benign	Het
Erich1	T	G	8: 14,090,527		probably benign	Het
Ermp1	A	C	19: 29,639,928	S227A	probably benign	Het
Etv1	C	A	12: 38,835,116	P143Q	probably null	Het
Gimap8	A	T	6: 48,650,568	I159F	probably benign	Het
Gm12666	A	G	4: 92,191,656	S32P	probably damaging	Het
Gm8251	A	C	1: 44,059,730	I736S	probably benign	Het
Gpr4	G	A	7: 19,222,578	V142M	possibly damaging	Het
Gucy1a1	C	T	3: 82,113,332	C86Y	probably benign	Het
Ifngr2	T	G	16: 91,561,779		probably null	Het
Insrr	A	T	3: 87,803,181	N398I	probably damaging	Het
Iws1	A	G	18: 32,084,666	E441G	probably damaging	Het
Megf10	A	T	18: 57,281,713	K732*	probably null	Het
Mprip	T	A	11: 59,749,508		probably benign	Het
Mrgprb8	T	C	7: 48,389,205	V208A	probably benign	Het
Msc	G	C	1: 14,755,684	P22R	probably benign	Het
Olfr725	A	T	14: 50,034,714	S230T	probably damaging	Het
Opcml	G	A	9: 28,901,590	E193K	probably damaging	Het
Oxsr1	A	C	9: 119,294,494	H71Q	probably benign	Het
Pkp2	T	A	16: 16,246,967	W452R	probably damaging	Het
Prrc2b	C	T	2: 32,182,570	T20I	probably damaging	Het
Rasgrp3	T	C	17: 75,503,141	S279P	probably damaging	Het
Rtl1	T	A	12: 109,591,397	D1336V	unknown	Het
Serpina3m	G	T	12: 104,389,270	K65N	probably benign	Het
Serpine2	A	G	1: 79,810,694	V182A	probably damaging	Het
Slc10a1	A	G	12: 80,956,048	V272A	possibly damaging	Het
Slc25a29	A	T	12: 108,827,432	N73K	probably damaging	Het
Slit1	G	A	19: 41,606,380	R1184W	probably damaging	Het
Srrm2	T	C	17: 23,812,429		probably benign	Het
Stk11ip	A	G	1: 75,525,521		probably benign	Het
Tcerg1	A	G	18: 42,564,145	K767R	possibly damaging	Het
Tmem82	T	C	4: 141,616,287	K224R	probably benign	Het
Tmprss11g	A	G	5: 86,499,556	L41S	probably damaging	Het
Trim42	T	C	9: 97,366,097	N182S	probably benign	Het
Ttn	T	C	2: 76,830,088	T7430A	probably benign	Het
Wwp1	T	C	4: 19,650,390	T259A	probably benign	Het

Other mutations in Eno1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03196:Eno1b	APN	18	48047491	missense	probably damaging	1.00
R0025:Eno1b	UTSW	18	48047739	missense	probably benign	0.01
R0153:Eno1b	UTSW	18	48047739	missense	probably benign	0.01
R0173:Eno1b	UTSW	18	48047739	missense	probably benign	0.01
R0230:Eno1b	UTSW	18	48047739	missense	probably benign	0.01
R0233:Eno1b	UTSW	18	48047739	missense	probably benign	0.01
R0396:Eno1b	UTSW	18	48047739	missense	probably benign	0.01
R0597:Eno1b	UTSW	18	48047739	missense	probably benign	0.01
R1834:Eno1b	UTSW	18	48047463	missense	probably damaging	1.00
R2875:Eno1b	UTSW	18	48047784	missense	possibly damaging	0.83
R4240:Eno1b	UTSW	18	48047840	missense	probably benign
R4611:Eno1b	UTSW	18	48047703	missense	probably damaging	1.00
R6917:Eno1b	UTSW	18	48047589	missense	probably benign
R7114:Eno1b	UTSW	18	48047493	missense	possibly damaging	0.88
R7217:Eno1b	UTSW	18	48047679	missense	probably damaging	0.97
R7503:Eno1b	UTSW	18	48046811	missense	probably damaging	1.00
R8061:Eno1b	UTSW	18	48047658	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCAAGAGTTCATGATCCTGC -3'
(R):5'- GGTCAAAGGGATCTTCGATGG -3'

Sequencing Primer
(F):5'- CAAGAGTTCATGATCCTGCCTGTG -3'
(R):5'- ATCTTCGATGGACACCACTGG -3'

Posted On

2014-09-18