Mutagenetix > Incidental Mutation

Incidental Mutation 'R8068:Ces2e'

620110

Institutional Source

Beutler Lab

Gene Symbol

Ces2e

Ensembl Gene

ENSMUSG00000031886

Gene Name

carboxylesterase 2E

Synonyms

9030624L02Rik, Ces5

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R8068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104926260-104934672 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 104932997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034355] [ENSMUST00000034355] [ENSMUST00000034355] [ENSMUST00000109410]

AlphaFold

Q8BK48

Predicted Effect

probably null
Transcript: ENSMUST00000034355

SMART Domains

Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886

Domain	Start	End	E-Value	Type
Pfam:COesterase	11	538	1.2e-174	PFAM
Pfam:Abhydrolase_3	143	252	4.6e-11	PFAM
Pfam:Peptidase_S9	159	296	2.3e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000034355

SMART Domains

Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886

Domain	Start	End	E-Value	Type
Pfam:COesterase	11	538	1.2e-174	PFAM
Pfam:Abhydrolase_3	143	252	4.6e-11	PFAM
Pfam:Peptidase_S9	159	296	2.3e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000034355

SMART Domains

Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886

Domain	Start	End	E-Value	Type
Pfam:COesterase	11	538	1.2e-174	PFAM
Pfam:Abhydrolase_3	143	252	4.6e-11	PFAM
Pfam:Peptidase_S9	159	296	2.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109410

SMART Domains

Protein: ENSMUSP00000105037
Gene: ENSMUSG00000031886

Domain	Start	End	E-Value	Type
Pfam:COesterase	9	538	1.7e-171	PFAM
Pfam:Abhydrolase_3	143	246	6.6e-11	PFAM
Pfam:Peptidase_S9	158	276	2.1e-7	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 40,825,938	D455E	not run	Het
Aldoc	T	C	11: 78,324,727	F79S	possibly damaging	Het
Atmin	A	G	8: 116,956,650	S350G	probably benign	Het
Bms1	A	G	6: 118,413,750	F206S	probably damaging	Het
Carmil1	T	A	13: 24,075,728	I698L	probably benign	Het
Cd47	T	A	16: 49,895,416	S182T		Het
Cit	C	A	5: 115,952,466	H906Q	probably damaging	Het
Cit	T	C	5: 115,982,235	S1370P	probably benign	Het
Dchs2	T	C	3: 83,300,438	F1739L	probably benign	Het
Dlx4	T	C	11: 95,145,330	Y51C	possibly damaging	Het
Drosha	T	A	15: 12,883,190	Y796*	probably null	Het
Elf1	T	A	14: 79,536,390	F14I	probably benign	Het
Fam135b	T	C	15: 71,532,978	Q73R	probably damaging	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gls2	C	G	10: 128,195,114	R81G	unknown	Het
Hnrnpll	T	C	17: 80,050,852	M157V	possibly damaging	Het
Itgb3	T	A	11: 104,665,511	M726K	probably benign	Het
Kcna10	T	G	3: 107,194,410	M119R	possibly damaging	Het
Kcnh1	A	G	1: 192,241,942	T155A	probably benign	Het
Kctd9	T	A	14: 67,724,662	D51E	unknown	Het
Lgr6	T	C	1: 135,063,664	I129V	probably benign	Het
Lrrfip1	A	T	1: 91,128,102	D598V	probably damaging	Het
Ltbp4	G	T	7: 27,324,168	Q850K	probably damaging	Het
Mdm1	A	G	10: 118,146,804	R115G	possibly damaging	Het
Mns1	A	C	9: 72,448,527		probably null	Het
Mthfs	G	A	9: 89,211,235	R14Q	probably damaging	Het
Muc2	T	A	7: 141,744,685	S25T		Het
Ncapd3	T	C	9: 27,063,361	S710P	possibly damaging	Het
Nrip1	T	A	16: 76,292,953	H572L	possibly damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfr1020	A	G	2: 85,849,806	E118G	probably damaging	Het
Olfr1152	A	G	2: 87,868,651	Y220C	probably benign	Het
Olfr656	T	A	7: 104,618,253	C191*	probably null	Het
Opa3	A	G	7: 19,244,985	E125G	probably damaging	Het
P3h1	A	G	4: 119,236,862	Y238C	probably damaging	Het
Pappa2	T	C	1: 158,935,985	D652G	possibly damaging	Het
Pcdha11	T	A	18: 37,005,565	N82K	probably damaging	Het
Pde4b	T	C	4: 102,596,015	I293T	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Qk	T	C	17: 10,318,803	D24G	possibly damaging	Het
Rbpjl	A	G	2: 164,408,518	K197E	possibly damaging	Het
Rnf111	A	T	9: 70,457,941	S415T	probably benign	Het
Scyl1	A	G	19: 5,760,825	V488A	probably damaging	Het
Slc1a6	G	C	10: 78,812,872	V476L	possibly damaging	Het
Slc22a17	A	T	14: 54,908,908	F84I	probably benign	Het
Slc22a4	A	C	11: 53,997,443	I253S	possibly damaging	Het
Speer2	T	C	16: 69,860,524	H77R	possibly damaging	Het
Speg	T	C	1: 75,422,250	S2114P	probably damaging	Het
Synpo2	T	A	3: 123,117,392	R201S	possibly damaging	Het
Ttpa	C	A	4: 20,028,419	H225Q	probably damaging	Het
Vmn1r45	A	T	6: 89,933,279	H236Q	possibly damaging	Het
Vmn2r7	A	T	3: 64,716,086	V271D	probably benign	Het
Wdr66	A	G	5: 123,256,166	S373G	not run	Het
Zfp53	A	T	17: 21,509,012	T436S	probably benign	Het

Other mutations in Ces2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Ces2e	APN	8	104929565	missense	probably benign	0.42
IGL02045:Ces2e	APN	8	104930658	splice site	probably benign
IGL02656:Ces2e	APN	8	104927056	missense	possibly damaging	0.94
IGL02904:Ces2e	APN	8	104931338	missense	probably benign
IGL02972:Ces2e	APN	8	104927061	missense	probably damaging	1.00
IGL03244:Ces2e	APN	8	104928819	missense	probably benign	0.38
R0585:Ces2e	UTSW	8	104929821	missense	probably damaging	1.00
R0762:Ces2e	UTSW	8	104929864	missense	probably damaging	0.98
R1004:Ces2e	UTSW	8	104929738	missense	probably damaging	1.00
R1168:Ces2e	UTSW	8	104927014	missense	possibly damaging	0.49
R1731:Ces2e	UTSW	8	104929576	missense	probably damaging	1.00
R2134:Ces2e	UTSW	8	104932539	critical splice donor site	probably null
R3087:Ces2e	UTSW	8	104930715	missense	probably benign	0.18
R3693:Ces2e	UTSW	8	104928811	missense	probably damaging	1.00
R4622:Ces2e	UTSW	8	104928709	splice site	probably null
R4873:Ces2e	UTSW	8	104927185	missense	probably damaging	1.00
R4875:Ces2e	UTSW	8	104927185	missense	probably damaging	1.00
R4965:Ces2e	UTSW	8	104933698	missense	probably benign	0.09
R5365:Ces2e	UTSW	8	104927214	critical splice donor site	probably null
R5529:Ces2e	UTSW	8	104929911	missense	probably benign	0.00
R5601:Ces2e	UTSW	8	104929494	missense	probably benign	0.42
R5968:Ces2e	UTSW	8	104932995	missense	probably damaging	1.00
R6128:Ces2e	UTSW	8	104928796	missense	probably benign	0.03
R7337:Ces2e	UTSW	8	104931056	splice site	probably null
R7363:Ces2e	UTSW	8	104933000	splice site	probably null
R7489:Ces2e	UTSW	8	104929780	missense	probably benign	0.26
R7548:Ces2e	UTSW	8	104931906	missense	probably benign
R9426:Ces2e	UTSW	8	104929588	missense	probably damaging	1.00
Z1088:Ces2e	UTSW	8	104931347	missense	probably benign
Z1088:Ces2e	UTSW	8	104932398	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACCTGGGTGATAGCTAGCTG -3'
(R):5'- AAGTTAGCACAAGATGACCAGTAAC -3'

Sequencing Primer
(F):5'- CCTGGGTGATAGCTAGCTGACTTG -3'
(R):5'- ATATAAAGTGTCTAAGTGTGCTGTGC -3'

Posted On

2020-01-23