Mutagenetix > Incidental Mutation

Incidental Mutation 'R7217:Eno1b'

561561

Institutional Source

Beutler Lab

Gene Symbol

Eno1b

Ensembl Gene

ENSMUSG00000059040

Gene Name

enolase 1B, retrotransposed

Synonyms

Gm5506

MMRRC Submission

045289-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48178402-48181446 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48180746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 308 (T308K)

Ref Sequence

ENSEMBL: ENSMUSP00000075513 (fasta)

Gene Model

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

AlphaFold

P17182

Predicted Effect

probably damaging
Transcript: ENSMUST00000076155
AA Change: T308K

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000075513
Gene: ENSMUSG00000059040
AA Change: T308K

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

91% (40/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	C	A	5: 138,645,188 (GRCm39)	H358N	probably benign	Het
Abcg3	A	G	5: 105,087,094 (GRCm39)	F543L	possibly damaging	Het
Asnsd1	T	C	1: 53,387,352 (GRCm39)	T92A	probably damaging	Het
Atg2a	G	T	19: 6,303,471 (GRCm39)		probably null	Het
Aven	T	A	2: 112,461,191 (GRCm39)	N327K	possibly damaging	Het
Brd9	T	C	13: 74,087,063 (GRCm39)	V116A	probably damaging	Het
Car14	A	G	3: 95,806,629 (GRCm39)	S250P	probably damaging	Het
Ccdc138	T	C	10: 58,345,422 (GRCm39)	I138T	probably benign	Het
Cmya5	A	G	13: 93,226,938 (GRCm39)	Y2717H	probably damaging	Het
Epha3	T	C	16: 63,372,857 (GRCm39)	T949A	probably benign	Het
Fcrl5	C	T	3: 87,351,081 (GRCm39)	T197M	probably damaging	Het
Foxp2	A	T	6: 15,416,023 (GRCm39)	Q664L	unknown	Het
Fsip2	A	T	2: 82,819,412 (GRCm39)	K5048N	possibly damaging	Het
Gcnt4	T	C	13: 97,082,818 (GRCm39)	L38P	probably damaging	Het
Gpr68	A	G	12: 100,845,058 (GRCm39)	V162A	possibly damaging	Het
Grin3a	A	T	4: 49,770,741 (GRCm39)	M677K	possibly damaging	Het
Grm7	A	G	6: 111,335,785 (GRCm39)	Y732C	probably damaging	Het
H2-T15	A	C	17: 36,367,235 (GRCm39)	M329R	probably benign	Het
Hoxb4	A	G	11: 96,209,906 (GRCm39)	E104G	probably benign	Het
Kat7	A	G	11: 95,182,390 (GRCm39)	S237P	possibly damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kif20a	T	A	18: 34,762,613 (GRCm39)	H495Q	probably benign	Het
Lama1	A	T	17: 68,071,668 (GRCm39)	T852S		Het
Mep1b	T	A	18: 21,226,600 (GRCm39)	D487E	probably benign	Het
Mki67	T	C	7: 135,305,911 (GRCm39)	T656A	probably damaging	Het
Mlh3	A	G	12: 85,313,481 (GRCm39)	W902R	probably benign	Het
Muc16	A	T	9: 18,555,372 (GRCm39)	Y3640*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Pkd1l2	A	G	8: 117,722,536 (GRCm39)	I2424T	probably benign	Het
Prl8a2	A	G	13: 27,534,998 (GRCm39)	E91G	possibly damaging	Het
Prpf18	A	G	2: 4,650,435 (GRCm39)	V65A	probably benign	Het
Pxmp2	A	G	5: 110,433,771 (GRCm39)	V34A	probably damaging	Het
Ranbp2	T	G	10: 58,287,839 (GRCm39)	Y36D	probably damaging	Het
Rbm25	G	A	12: 83,710,991 (GRCm39)	R368Q	unknown	Het
Rims2	C	A	15: 39,339,885 (GRCm39)	L860M	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,868,108 (GRCm39)	M318L	probably benign	Het
Slc35b2	A	G	17: 45,875,955 (GRCm39)	T55A	probably benign	Het
Trnp1	T	C	4: 133,225,416 (GRCm39)	E118G	possibly damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Wdfy3	A	T	5: 102,049,785 (GRCm39)	H1680Q	probably damaging	Het
Zfp131	A	G	13: 120,237,377 (GRCm39)	I327T	probably damaging	Het
Zfp729b	A	G	13: 67,743,367 (GRCm39)	V66A	probably damaging	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
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
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'- ACAGGTCTGGCAAGTATGACC -3'
(R):5'- ACCAGGTCTGCGATGAAAGTG -3'

Sequencing Primer
(F):5'- GCAAGTATGACCTGGACTTCAAGTC -3'
(R):5'- CTGCGATGAAAGTGTCCTCAG -3'

Posted On

2019-06-26