Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02904:Ces2e'

363744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces2e

Ensembl Gene

ENSMUSG00000031886

Gene Name

carboxylesterase 2E

Synonyms

Ces5, 9030624L02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL02904

Quality Score

Status

Chromosome

Chromosomal Location

105652892-105661304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105657970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 356 (P356L)

Ref Sequence

ENSEMBL: ENSMUSP00000105037 (fasta)

Gene Model

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

AlphaFold

Q8BK48

Predicted Effect

probably benign
Transcript: ENSMUST00000034355
AA Change: P356L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034355
Gene: ENSMUSG00000031886
AA Change: P356L

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
AA Change: P356L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105037
Gene: ENSMUSG00000031886
AA Change: P356L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,620,990 (GRCm39)	S564P	probably damaging	Het
A1cf	A	C	19: 31,912,206 (GRCm39)	K432N	probably damaging	Het
Acp7	A	T	7: 28,307,428 (GRCm39)	D476E	probably benign	Het
Aqp9	T	A	9: 71,045,430 (GRCm39)	I60F	probably damaging	Het
B2m	A	C	2: 121,981,642 (GRCm39)		probably benign	Het
B3galt1	T	A	2: 67,949,089 (GRCm39)	V268E	probably damaging	Het
Cacna1a	T	C	8: 85,306,149 (GRCm39)	L1299P	probably damaging	Het
Cemip2	G	A	19: 21,801,207 (GRCm39)	D775N	possibly damaging	Het
Crmp1	A	T	5: 37,446,262 (GRCm39)	K639N	possibly damaging	Het
Ddx17	G	A	15: 79,414,638 (GRCm39)	R510*	probably null	Het
Dner	C	T	1: 84,512,665 (GRCm39)	V301M	probably damaging	Het
Efr3b	T	G	12: 4,034,583 (GRCm39)	I196L	probably damaging	Het
Fat1	T	C	8: 45,493,719 (GRCm39)	V3955A	probably damaging	Het
Gid4	T	C	11: 60,308,561 (GRCm39)	I27T	probably benign	Het
Glis3	A	G	19: 28,335,352 (GRCm39)	F571L	possibly damaging	Het
Gm4950	T	C	18: 51,998,803 (GRCm39)	I51V	probably benign	Het
Gm5592	T	C	7: 40,937,810 (GRCm39)	L364P	probably damaging	Het
Gucy2d	G	A	7: 98,111,396 (GRCm39)		probably null	Het
Kpna6	A	G	4: 129,544,480 (GRCm39)	I411T	probably benign	Het
Lcn11	A	G	2: 25,669,278 (GRCm39)	D145G	probably null	Het
Lrrc37	A	C	11: 103,507,187 (GRCm39)		probably benign	Het
Med12	A	G	X: 100,337,784 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,536,851 (GRCm39)	K42E	possibly damaging	Het
Mtor	A	G	4: 148,576,069 (GRCm39)		probably benign	Het
Mybpc2	T	C	7: 44,171,765 (GRCm39)	D55G	probably benign	Het
Myo1f	T	A	17: 33,804,632 (GRCm39)	C445*	probably null	Het
Naca	C	T	10: 127,879,159 (GRCm39)		probably benign	Het
Nlgn2	T	C	11: 69,716,666 (GRCm39)	Y625C	possibly damaging	Het
Nlrp9c	A	T	7: 26,074,715 (GRCm39)	C827S	probably damaging	Het
Nudt12	T	A	17: 59,317,347 (GRCm39)	N100I	probably benign	Het
Or2t43	T	A	11: 58,457,623 (GRCm39)	T183S	possibly damaging	Het
Or5g9	T	C	2: 85,552,099 (GRCm39)	S117P	probably damaging	Het
Or7d10	A	T	9: 19,832,393 (GRCm39)	D296V	probably damaging	Het
Or8s5	A	T	15: 98,238,729 (GRCm39)	L31Q	probably null	Het
Picalm	G	A	7: 89,825,619 (GRCm39)		probably benign	Het
Pkd1l1	A	G	11: 8,818,450 (GRCm39)		probably benign	Het
Scube3	T	C	17: 28,386,574 (GRCm39)	V831A	probably benign	Het
Slco5a1	A	G	1: 12,991,321 (GRCm39)	I456T	probably damaging	Het
Snx3	A	G	10: 42,410,690 (GRCm39)	H110R	probably damaging	Het
Spef2	T	C	15: 9,679,432 (GRCm39)	D635G	probably damaging	Het
St3gal5	A	T	6: 72,124,108 (GRCm39)	I212L	possibly damaging	Het
Syvn1	T	A	19: 6,099,845 (GRCm39)	Y192*	probably null	Het
Tmtc1	A	G	6: 148,150,980 (GRCm39)		probably benign	Het
Trappc14	C	T	5: 138,258,864 (GRCm39)	V232I	probably benign	Het
Trip11	T	G	12: 101,853,097 (GRCm39)	E499D	probably damaging	Het
Ttn	A	T	2: 76,562,375 (GRCm39)	N28823K	probably damaging	Het
Unc13c	C	A	9: 73,388,349 (GRCm39)	G2146*	probably null	Het
Ush2a	G	T	1: 188,638,703 (GRCm39)	V4038L	probably benign	Het
Zc3h7a	T	G	16: 10,968,530 (GRCm39)	D483A	probably damaging	Het
Zfyve19	T	C	2: 119,040,953 (GRCm39)		probably benign	Het

Other mutations in Ces2e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Ces2e	APN	8	105,656,197 (GRCm39)	missense	probably benign	0.42
IGL02045:Ces2e	APN	8	105,657,290 (GRCm39)	splice site	probably benign
IGL02656:Ces2e	APN	8	105,653,688 (GRCm39)	missense	possibly damaging	0.94
IGL02972:Ces2e	APN	8	105,653,693 (GRCm39)	missense	probably damaging	1.00
IGL03244:Ces2e	APN	8	105,655,451 (GRCm39)	missense	probably benign	0.38
R0585:Ces2e	UTSW	8	105,656,453 (GRCm39)	missense	probably damaging	1.00
R0762:Ces2e	UTSW	8	105,656,496 (GRCm39)	missense	probably damaging	0.98
R1004:Ces2e	UTSW	8	105,656,370 (GRCm39)	missense	probably damaging	1.00
R1168:Ces2e	UTSW	8	105,653,646 (GRCm39)	missense	possibly damaging	0.49
R1731:Ces2e	UTSW	8	105,656,208 (GRCm39)	missense	probably damaging	1.00
R2134:Ces2e	UTSW	8	105,659,171 (GRCm39)	critical splice donor site	probably null
R3087:Ces2e	UTSW	8	105,657,347 (GRCm39)	missense	probably benign	0.18
R3693:Ces2e	UTSW	8	105,655,443 (GRCm39)	missense	probably damaging	1.00
R4622:Ces2e	UTSW	8	105,655,341 (GRCm39)	splice site	probably null
R4873:Ces2e	UTSW	8	105,653,817 (GRCm39)	missense	probably damaging	1.00
R4875:Ces2e	UTSW	8	105,653,817 (GRCm39)	missense	probably damaging	1.00
R4965:Ces2e	UTSW	8	105,660,330 (GRCm39)	missense	probably benign	0.09
R5365:Ces2e	UTSW	8	105,653,846 (GRCm39)	critical splice donor site	probably null
R5529:Ces2e	UTSW	8	105,656,543 (GRCm39)	missense	probably benign	0.00
R5601:Ces2e	UTSW	8	105,656,126 (GRCm39)	missense	probably benign	0.42
R5968:Ces2e	UTSW	8	105,659,627 (GRCm39)	missense	probably damaging	1.00
R6128:Ces2e	UTSW	8	105,655,428 (GRCm39)	missense	probably benign	0.03
R7337:Ces2e	UTSW	8	105,657,688 (GRCm39)	splice site	probably null
R7363:Ces2e	UTSW	8	105,659,632 (GRCm39)	splice site	probably null
R7489:Ces2e	UTSW	8	105,656,412 (GRCm39)	missense	probably benign	0.26
R7548:Ces2e	UTSW	8	105,658,538 (GRCm39)	missense	probably benign
R8068:Ces2e	UTSW	8	105,659,629 (GRCm39)	critical splice donor site	probably null
R9426:Ces2e	UTSW	8	105,656,220 (GRCm39)	missense	probably damaging	1.00
Z1088:Ces2e	UTSW	8	105,659,030 (GRCm39)	critical splice acceptor site	probably null
Z1088:Ces2e	UTSW	8	105,657,979 (GRCm39)	missense	probably benign

Posted On

2015-12-18