Mutagenetix > Incidental Mutation

Incidental Mutation 'R2231:Enoph1'

240033

Institutional Source

Beutler Lab

Gene Symbol

Enoph1

Ensembl Gene

ENSMUSG00000029326

Gene Name

enolase-phosphatase 1

Synonyms

2310057D15Rik

MMRRC Submission

040232-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R2231 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100187844-100216619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100188136 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 20 (T20I)

Ref Sequence

ENSEMBL: ENSMUSP00000129704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031268] [ENSMUST00000086900] [ENSMUST00000128187] [ENSMUST00000149384] [ENSMUST00000169390]

AlphaFold

Q8BGB7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031268
AA Change: T20I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000031268
Gene: ENSMUSG00000029326
AA Change: T20I

Domain	Start	End	E-Value	Type
Pfam:HAD_2	13	227	2.6e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000086900

SMART Domains

Protein: ENSMUSP00000084114
Gene: ENSMUSG00000029328

Domain	Start	End	E-Value	Type
low complexity region	31	57	N/A	INTRINSIC
low complexity region	70	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
RRM	149	221	1.74e-23	SMART
RRM	234	306	3.56e-20	SMART
low complexity region	315	344	N/A	INTRINSIC
low complexity region	347	362	N/A	INTRINSIC
low complexity region	370	393	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128187

SMART Domains

Protein: ENSMUSP00000121005
Gene: ENSMUSG00000029328

Domain	Start	End	E-Value	Type
low complexity region	31	57	N/A	INTRINSIC
low complexity region	70	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
RRM	149	221	1.74e-23	SMART
RRM	234	306	3.56e-20	SMART
low complexity region	315	344	N/A	INTRINSIC
low complexity region	347	362	N/A	INTRINSIC
low complexity region	370	393	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141337

Predicted Effect

probably benign
Transcript: ENSMUST00000149384

SMART Domains

Protein: ENSMUSP00000117589
Gene: ENSMUSG00000029328

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
Blast:RRM	28	59	1e-13	BLAST
low complexity region	63	83	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151323

Predicted Effect

probably damaging
Transcript: ENSMUST00000169390
AA Change: T20I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129704
Gene: ENSMUSG00000029326
AA Change: T20I

Domain	Start	End	E-Value	Type
Pfam:HAD_2	13	227	2.6e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199518

Predicted Effect

probably benign
Transcript: ENSMUST00000153442

SMART Domains

Protein: ENSMUSP00000118555
Gene: ENSMUSG00000029328

Domain	Start	End	E-Value	Type
RRM	52	124	1.74e-23	SMART
RRM	137	209	3.56e-20	SMART
low complexity region	218	247	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
low complexity region	273	296	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,739,440 (GRCm39)	R336W	probably damaging	Het
Alkbh6	G	A	7: 30,012,015 (GRCm39)		probably null	Het
Ankrd63	A	G	2: 118,533,846 (GRCm39)		probably benign	Het
Arsa	T	C	15: 89,359,925 (GRCm39)	M1V	probably null	Het
Cblb	T	A	16: 52,014,635 (GRCm39)	S895T	probably benign	Het
Cdk8	A	T	5: 146,168,414 (GRCm39)		probably benign	Het
Coch	G	A	12: 51,649,648 (GRCm39)	V320I	probably benign	Het
Cyp2c68	T	A	19: 39,687,804 (GRCm39)	S398C	probably benign	Het
Cyp2e1	T	C	7: 140,344,827 (GRCm39)	S98P	probably damaging	Het
Dnah5	G	A	15: 28,408,563 (GRCm39)		probably null	Het
Eif2b5	T	C	16: 20,323,520 (GRCm39)	Y424H	probably benign	Het
Entpd7	T	C	19: 43,710,255 (GRCm39)	V304A	probably benign	Het
Fam227a	T	A	15: 79,499,582 (GRCm39)	Y591F	possibly damaging	Het
Gal3st1	T	C	11: 3,948,282 (GRCm39)	I163T	probably benign	Het
Kif21a	G	A	15: 90,869,565 (GRCm39)	Q429*	probably null	Het
L1cam	T	A	X: 72,904,947 (GRCm39)	N503I	possibly damaging	Het
Myl3	T	C	9: 110,596,979 (GRCm39)	L113P	probably damaging	Het
Nup153	A	G	13: 46,863,103 (GRCm39)		probably null	Het
Oaz3	T	C	3: 94,341,846 (GRCm39)	T130A	probably benign	Het
Or4c3d	A	T	2: 89,882,569 (GRCm39)	F33Y	probably benign	Het
Or5b12b	A	G	19: 12,861,313 (GRCm39)	I23V	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Pdk3	G	T	X: 92,857,604 (GRCm39)	N59K	probably damaging	Het
Piezo2	A	T	18: 63,278,143 (GRCm39)	C254S	probably damaging	Het
Plekhd1	T	C	12: 80,768,725 (GRCm39)	F403L	possibly damaging	Het
Pou5f1	A	G	17: 35,820,959 (GRCm39)	T134A	probably benign	Het
Ppp3r1	G	A	11: 17,143,115 (GRCm39)	G68R	probably damaging	Het
Prr5	T	C	15: 84,586,981 (GRCm39)	S244P	probably benign	Het
Sacs	A	G	14: 61,443,378 (GRCm39)		probably null	Het
Sbno1	A	T	5: 124,543,767 (GRCm39)	D257E	probably damaging	Het
Scn10a	T	C	9: 119,462,916 (GRCm39)	E1040G	possibly damaging	Het
Sgce	T	C	6: 4,730,066 (GRCm39)	K53E	probably benign	Het
Slc6a11	A	G	6: 114,171,590 (GRCm39)	T254A	probably damaging	Het
Spag1	A	G	15: 36,191,313 (GRCm39)	Y180C	probably benign	Het
Ssna1	G	T	2: 25,162,019 (GRCm39)	N58K	possibly damaging	Het
Tbx3	C	A	5: 119,815,589 (GRCm39)	N296K	probably damaging	Het
Tcerg1	A	G	18: 42,657,309 (GRCm39)	T264A	unknown	Het
Trdmt1	A	T	2: 13,530,436 (GRCm39)	F82I	probably damaging	Het
Ttn	A	T	2: 76,774,497 (GRCm39)	F2136L	probably damaging	Het
Usb1	T	G	8: 96,070,674 (GRCm39)	L200R	probably damaging	Het
Usp33	C	T	3: 152,079,023 (GRCm39)	A425V	probably benign	Het
Zfp92	G	T	X: 72,466,358 (GRCm39)	L450F	possibly damaging	Het
Zw10	C	T	9: 48,975,421 (GRCm39)	T282M	possibly damaging	Het

Other mutations in Enoph1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02511:Enoph1	APN	5	100,208,894 (GRCm39)	missense	probably benign
R1288:Enoph1	UTSW	5	100,188,138 (GRCm39)	missense	possibly damaging	0.95
R1567:Enoph1	UTSW	5	100,208,884 (GRCm39)	missense	probably benign	0.00
R2059:Enoph1	UTSW	5	100,207,078 (GRCm39)	missense	probably damaging	0.96
R2100:Enoph1	UTSW	5	100,211,645 (GRCm39)	missense	probably null	0.16
R5314:Enoph1	UTSW	5	100,211,682 (GRCm39)	missense	possibly damaging	0.53
R5681:Enoph1	UTSW	5	100,210,136 (GRCm39)	critical splice donor site	probably null
R6056:Enoph1	UTSW	5	100,215,760 (GRCm39)	missense	probably damaging	0.99
R7718:Enoph1	UTSW	5	100,210,019 (GRCm39)	missense	possibly damaging	0.47
R7921:Enoph1	UTSW	5	100,208,992 (GRCm39)	missense	probably benign	0.00
R8070:Enoph1	UTSW	5	100,208,841 (GRCm39)	missense	probably benign	0.00
R9642:Enoph1	UTSW	5	100,188,115 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CGAGGCCTATTTTGACCGAC -3'
(R):5'- GCTGAGACCATCTCCACTTC -3'

Sequencing Primer
(F):5'- TGTAGTACCCTAGGCGGCTTC -3'
(R):5'- GCGCGAGGAAAAGCACCC -3'

Posted On

2014-10-15