Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03196:Eno1b'

412807

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eno1b

Ensembl Gene

ENSMUSG00000059040

Gene Name

enolase 1B, retrotransposed

Synonyms

Gm5506

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL03196

Quality Score

Status

Chromosome

Chromosomal Location

48178402-48181446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48180558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 245 (D245E)

Ref Sequence

ENSEMBL: ENSMUSP00000075513 (fasta)

Gene Model

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

AlphaFold

P17182

Predicted Effect

probably damaging
Transcript: ENSMUST00000076155
AA Change: D245E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075513
Gene: ENSMUSG00000059040
AA Change: D245E

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

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,138,045 (GRCm39)	V57A	probably damaging	Het
Adck1	T	C	12: 88,397,885 (GRCm39)	V173A	probably damaging	Het
Adgrv1	C	A	13: 81,594,597 (GRCm39)	R4139L	probably benign	Het
Aqp4	T	G	18: 15,526,566 (GRCm39)	D305A	probably benign	Het
Cadm1	T	C	9: 47,710,675 (GRCm39)	S193P	possibly damaging	Het
Ccdc88a	T	C	11: 29,432,340 (GRCm39)	S377P	possibly damaging	Het
Clic5	C	A	17: 44,552,960 (GRCm39)	H71Q	possibly damaging	Het
Col20a1	G	A	2: 180,649,671 (GRCm39)		probably null	Het
Col5a1	A	G	2: 27,865,610 (GRCm39)	D759G	unknown	Het
Cplane1	A	T	15: 8,230,826 (GRCm39)	K1034N	probably damaging	Het
Cpt1b	A	G	15: 89,308,598 (GRCm39)	V110A	probably benign	Het
Cts8	C	T	13: 61,401,272 (GRCm39)	G85S	probably benign	Het
Cul5	T	A	9: 53,537,180 (GRCm39)	M551L	probably damaging	Het
Fgf1	A	T	18: 38,975,028 (GRCm39)	Y140*	probably null	Het
Flt1	A	G	5: 147,551,937 (GRCm39)		probably null	Het
Fndc7	A	G	3: 108,790,760 (GRCm39)	Y89H	probably damaging	Het
Gm3127	A	T	14: 15,432,259 (GRCm39)	M254L	probably benign	Het
Gm5849	T	C	3: 90,685,089 (GRCm39)	E32G	probably damaging	Het
Gys1	T	C	7: 45,104,241 (GRCm39)		probably benign	Het
H2ap	A	G	X: 9,713,349 (GRCm39)	Q27R	possibly damaging	Het
Hdgfl2	T	C	17: 56,400,607 (GRCm39)	V125A	probably benign	Het
Igkv6-32	C	T	6: 70,051,042 (GRCm39)	V105I	probably benign	Het
Lmo3	T	C	6: 138,342,993 (GRCm39)	T140A	probably benign	Het
Marf1	A	G	16: 13,958,123 (GRCm39)	V793A	possibly damaging	Het
Mep1b	A	C	18: 21,228,121 (GRCm39)	I575L	probably benign	Het
Mtmr4	T	A	11: 87,491,609 (GRCm39)	I155N	possibly damaging	Het
Muc2	T	C	7: 141,301,367 (GRCm39)	F361L	probably damaging	Het
Ncoa7	T	A	10: 30,523,510 (GRCm39)		probably benign	Het
Nme6	C	T	9: 109,670,561 (GRCm39)	R71W	probably damaging	Het
Or56b1b	T	C	7: 108,164,061 (GRCm39)	S314G	probably benign	Het
Or9g4b	G	A	2: 85,616,365 (GRCm39)	G170D	possibly damaging	Het
Or9m2	A	T	2: 87,820,826 (GRCm39)	I124F	possibly damaging	Het
Osbpl9	C	T	4: 108,930,061 (GRCm39)	V357I	probably damaging	Het
Ppp4r3a	A	G	12: 101,015,913 (GRCm39)		probably benign	Het
Rnf216	T	C	5: 143,066,766 (GRCm39)	R474G	probably damaging	Het
Rpp25l	A	G	4: 41,712,541 (GRCm39)	V78A	possibly damaging	Het
Sh3bp2	C	A	5: 34,714,687 (GRCm39)	P245Q	probably damaging	Het
Slc33a1	A	G	3: 63,871,151 (GRCm39)	F154S	possibly damaging	Het
Wasf2	T	A	4: 132,921,732 (GRCm39)	S284T	unknown	Het
Wdtc1	T	C	4: 133,022,648 (GRCm39)	E566G	probably damaging	Het
Zcchc14	C	T	8: 122,335,877 (GRCm39)		probably benign	Het

Other mutations in Eno1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4240:Eno1b	UTSW	18	48,180,907 (GRCm39)	missense	probably benign
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

Posted On

2016-08-02