Mutagenetix > Incidental Mutation

Incidental Mutation 'R2100:Enoph1'

230426

Institutional Source

Beutler Lab

Gene Symbol

Enoph1

Ensembl Gene

ENSMUSG00000029326

Gene Name

enolase-phosphatase 1

Synonyms

2310057D15Rik

MMRRC Submission

040104-MU

Accession Numbers

Essential gene?

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

Stock #

R2100 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100187844-100216619 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100211645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 181 (I181V)

Ref Sequence

ENSEMBL: ENSMUSP00000129704 (fasta)

Gene Model

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

AlphaFold

Q8BGB7

Predicted Effect

probably null
Transcript: ENSMUST00000031268
AA Change: I181V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031268
Gene: ENSMUSG00000029326
AA Change: I181V

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

Predicted Effect

probably null
Transcript: ENSMUST00000169390
AA Change: I181V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129704
Gene: ENSMUSG00000029326
AA Change: I181V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200223

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,627,183 (GRCm39)	R1295W	probably damaging	Het
Abca8b	A	T	11: 109,828,608 (GRCm39)	I1430N	probably damaging	Het
Abcb1a	A	G	5: 8,763,202 (GRCm39)	T577A	probably damaging	Het
Arl5b	G	A	2: 15,078,006 (GRCm39)	M101I	probably benign	Het
C1qbp	T	A	11: 70,868,928 (GRCm39)	N278I	probably benign	Het
Cdh1	A	T	8: 107,386,300 (GRCm39)	T408S	possibly damaging	Het
Cfap54	T	A	10: 92,837,799 (GRCm39)	I1034F	possibly damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Chil4	T	C	3: 106,121,663 (GRCm39)	K62R	probably benign	Het
Crebl2	A	G	6: 134,828,166 (GRCm39)	T113A	probably benign	Het
Cyp2c69	C	A	19: 39,875,130 (GRCm39)	V8L	probably benign	Het
Dpp6	A	G	5: 27,869,742 (GRCm39)	R447G	probably damaging	Het
Efcab6	A	T	15: 83,777,168 (GRCm39)		probably null	Het
Emilin1	T	G	5: 31,075,241 (GRCm39)	V494G	probably benign	Het
F3	T	C	3: 121,526,082 (GRCm39)	V215A	possibly damaging	Het
Fads2b	T	C	2: 85,330,593 (GRCm39)	N238S	probably damaging	Het
Fat3	G	T	9: 16,288,726 (GRCm39)	H266N	possibly damaging	Het
Frmd4a	A	G	2: 4,610,834 (GRCm39)	T995A	probably damaging	Het
Garnl3	T	C	2: 32,936,657 (GRCm39)	T171A	probably benign	Het
Hspa4l	T	C	3: 40,727,090 (GRCm39)	V476A	possibly damaging	Het
Impg2	A	G	16: 56,051,748 (GRCm39)		probably null	Het
Kctd6	T	C	14: 8,222,239 (GRCm38)	L27P	possibly damaging	Het
Kmt2d	G	T	15: 98,744,361 (GRCm39)		probably benign	Het
Kremen1	AGGCGG	AGGCGGCGG	11: 5,151,788 (GRCm39)		probably benign	Het
Lrig2	A	G	3: 104,418,946 (GRCm39)	L21P	possibly damaging	Het
Macf1	G	A	4: 123,291,699 (GRCm39)	Q3284*	probably null	Het
Mnt	A	G	11: 74,722,177 (GRCm39)	E8G	probably damaging	Het
Nbeal1	A	G	1: 60,344,430 (GRCm39)		probably null	Het
Nid2	C	T	14: 19,828,946 (GRCm39)	Q331*	probably null	Het
Nlrx1	A	G	9: 44,173,905 (GRCm39)	L432P	probably damaging	Het
Nop2	T	A	6: 125,117,785 (GRCm39)	D445E	probably damaging	Het
Nup62	T	C	7: 44,478,921 (GRCm39)		probably benign	Het
Oas2	A	G	5: 120,883,740 (GRCm39)		probably null	Het
Or5b121	A	G	19: 13,507,798 (GRCm39)	I298V	probably benign	Het
Or5p1	A	T	7: 107,916,761 (GRCm39)	Y220F	probably benign	Het
Or5w10	T	A	2: 87,375,169 (GRCm39)	T240S	probably damaging	Het
Or8k40	A	T	2: 86,584,905 (GRCm39)	M59K	possibly damaging	Het
Or9i14	A	G	19: 13,792,600 (GRCm39)	M118T	possibly damaging	Het
P3h3	T	A	6: 124,822,005 (GRCm39)	T623S	probably damaging	Het
Pkp3	T	C	7: 140,663,205 (GRCm39)	V350A	probably damaging	Het
Plekha3	T	A	2: 76,523,007 (GRCm39)	I225N	probably benign	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnf213	A	T	11: 119,358,128 (GRCm39)	K4292*	probably null	Het
Rtkn	T	C	6: 83,126,541 (GRCm39)		probably null	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Snx10	T	C	6: 51,565,395 (GRCm39)	Y171H	probably damaging	Het
Stx12	A	T	4: 132,587,913 (GRCm39)	I173N	possibly damaging	Het
Thrb	T	A	14: 18,030,393 (GRCm38)	M379K	possibly damaging	Het
Tmem132e	T	A	11: 82,335,357 (GRCm39)	V813E	probably damaging	Het
Tnfsf12	T	C	11: 69,578,175 (GRCm39)	E134G	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpbgl	T	A	7: 99,275,651 (GRCm39)	I69F	possibly damaging	Het
Ythdc1	T	A	5: 86,964,544 (GRCm39)	S130T	possibly damaging	Het
Zbp1	A	G	2: 173,051,037 (GRCm39)	S278P	probably damaging	Het
Zfp30	A	G	7: 29,492,951 (GRCm39)	T483A	probably benign	Het
Zfp322a	G	A	13: 23,541,460 (GRCm39)	S94L	possibly damaging	Het
Zfp646	T	G	7: 127,481,359 (GRCm39)	Y1179D	probably 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
R2231:Enoph1	UTSW	5	100,188,136 (GRCm39)	missense	probably damaging	1.00
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'- GCTGGTGAGAACCAAATGCG -3'
(R):5'- TAACCCAGACCTGCTTCCTG -3'

Sequencing Primer
(F):5'- CCAAATGCGACGTTTTTATTACCG -3'
(R):5'- TCTCCCACCTCAGAGGC -3'

Posted On

2014-09-18