Mutagenetix > Incidental Mutation

Incidental Mutation 'R3815:Ces1e'

274245

Institutional Source

Beutler Lab

Gene Symbol

Ces1e

Ensembl Gene

ENSMUSG00000061959

Gene Name

carboxylesterase 1E

Synonyms

Es22, egasyn, Eg, Es-22

MMRRC Submission

040770-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3815 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93927846-93956233 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 93928467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034172] [ENSMUST00000034173] [ENSMUST00000176282]

AlphaFold

Q64176

Predicted Effect

probably benign
Transcript: ENSMUST00000034172

SMART Domains

Protein: ENSMUSP00000034172
Gene: ENSMUSG00000056973

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	4.9e-169	PFAM
Pfam:Abhydrolase_3	136	256	8.1e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000034173

SMART Domains

Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	546	1.7e-174	PFAM
Pfam:Abhydrolase_3	137	282	5.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129987

Predicted Effect

probably null
Transcript: ENSMUST00000176282

SMART Domains

Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	8.9e-166	PFAM
Pfam:Abhydrolase_3	136	292	2.7e-10	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

100% (55/55)

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous mutation lack stable microsomal beta-glucuronidase and display altered processing of lysosomal beta-glucuronidase in liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,936,024 (GRCm39)		probably benign	Het
Aldh18a1	A	G	19: 40,558,944 (GRCm39)	S299P	probably damaging	Het
Ankrd6	A	C	4: 32,806,206 (GRCm39)	S618R	probably benign	Het
Apobec3	G	T	15: 79,783,301 (GRCm39)	R126M	possibly damaging	Het
Arl8b	T	A	6: 108,790,658 (GRCm39)	V65D	probably damaging	Het
AW554918	C	T	18: 25,533,104 (GRCm39)	R253C	probably benign	Het
Cd177	A	G	7: 24,453,817 (GRCm39)	V358A	probably benign	Het
Cdca7l	G	A	12: 117,835,948 (GRCm39)	V95I	probably damaging	Het
Cfap90	A	G	13: 68,759,344 (GRCm39)	H106R	probably damaging	Het
Coq5	T	G	5: 115,433,957 (GRCm39)	F306V	probably damaging	Het
Cpsf1	A	G	15: 76,485,349 (GRCm39)	V501A	probably benign	Het
Csmd1	C	T	8: 16,052,522 (GRCm39)	A2201T	probably damaging	Het
Cul5	T	A	9: 53,534,243 (GRCm39)	I630L	probably benign	Het
Cyp4a12b	A	T	4: 115,289,667 (GRCm39)	D178V	probably damaging	Het
Dedd	A	G	1: 171,166,469 (GRCm39)	E135G	probably benign	Het
Ecel1	A	G	1: 87,080,622 (GRCm39)	F368S	probably damaging	Het
Ext1	A	C	15: 53,208,485 (GRCm39)	I92S	probably benign	Het
Fbxw5	A	T	2: 25,393,576 (GRCm39)	D268V	possibly damaging	Het
Flacc1	T	G	1: 58,698,164 (GRCm39)	N379T	probably damaging	Het
Gen1	A	T	12: 11,302,034 (GRCm39)	V192E	possibly damaging	Het
Gm11077	T	G	6: 140,675,041 (GRCm39)	V11G	unknown	Het
Ift88	A	T	14: 57,678,438 (GRCm39)	E150V	possibly damaging	Het
Kcna1	T	C	6: 126,620,009 (GRCm39)	R104G	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Krt82	A	G	15: 101,459,035 (GRCm39)	S2P	probably damaging	Het
Luc7l2	T	C	6: 38,547,526 (GRCm39)	S69P	possibly damaging	Het
Ly9	G	T	1: 171,416,653 (GRCm39)	T537N	possibly damaging	Het
Mamstr	G	T	7: 45,293,956 (GRCm39)	R20L	probably damaging	Het
Nav1	C	A	1: 135,398,862 (GRCm39)	K573N	possibly damaging	Het
Or5b104	T	C	19: 13,072,277 (GRCm39)	H245R	probably damaging	Het
Or8b12c	C	T	9: 37,715,465 (GRCm39)	S86L	probably benign	Het
Or8b40	A	T	9: 38,027,922 (GRCm39)	T277S	possibly damaging	Het
Or8b55	A	G	9: 38,727,722 (GRCm39)	K308E	possibly damaging	Het
Palld	T	A	8: 62,002,871 (GRCm39)		probably benign	Het
Pcdha2	A	G	18: 37,074,748 (GRCm39)	Y793C	probably benign	Het
Pcdhb4	A	T	18: 37,441,065 (GRCm39)	D125V	probably damaging	Het
Pomgnt1	T	A	4: 116,011,139 (GRCm39)		probably null	Het
Ppp1r9b	A	T	11: 94,883,359 (GRCm39)	E329V	probably damaging	Het
Rarres1	T	A	3: 67,422,654 (GRCm39)	D32V	probably benign	Het
Rhobtb1	A	G	10: 69,121,523 (GRCm39)	H53R	possibly damaging	Het
Ryr1	A	T	7: 28,772,327 (GRCm39)	S2494T	probably damaging	Het
Sapcd2	G	A	2: 25,263,518 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Senp1	A	C	15: 97,954,713 (GRCm39)	D490E	probably damaging	Het
Sfrp5	C	T	19: 42,187,230 (GRCm39)	R280H	probably benign	Het
Skint5	A	G	4: 113,486,319 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,703,496 (GRCm39)	T499I	possibly damaging	Het
Smad1	G	A	8: 80,070,359 (GRCm39)	A393V	probably benign	Het
Sorl1	A	G	9: 41,975,345 (GRCm39)	L487P	possibly damaging	Het
Spire1	G	T	18: 67,639,733 (GRCm39)	T273K	probably benign	Het
Tep1	T	C	14: 51,105,772 (GRCm39)	T83A	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttn	T	A	2: 76,552,077 (GRCm39)	R29441*	probably null	Het
Wdr37	A	G	13: 8,903,632 (GRCm39)		probably benign	Het

Other mutations in Ces1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Ces1e	APN	8	93,944,245 (GRCm39)	missense	probably damaging	0.98
IGL01358:Ces1e	APN	8	93,940,778 (GRCm39)	missense	probably damaging	0.99
IGL01597:Ces1e	APN	8	93,937,001 (GRCm39)	missense	probably benign	0.01
IGL01875:Ces1e	APN	8	93,950,524 (GRCm39)	missense	probably benign	0.03
IGL02244:Ces1e	APN	8	93,938,977 (GRCm39)	splice site	probably null
IGL03260:Ces1e	APN	8	93,950,545 (GRCm39)	missense	probably benign	0.00
IGL03302:Ces1e	APN	8	93,950,521 (GRCm39)	critical splice donor site	probably null
chaingun	UTSW	8	93,950,586 (GRCm39)	missense	probably damaging	1.00
Chomper	UTSW	8	93,928,467 (GRCm39)	critical splice donor site	probably null
PIT4651001:Ces1e	UTSW	8	93,941,711 (GRCm39)	missense	probably benign	0.00
R0158:Ces1e	UTSW	8	93,946,057 (GRCm39)	missense	probably benign	0.09
R0317:Ces1e	UTSW	8	93,950,667 (GRCm39)	missense	probably benign	0.03
R0530:Ces1e	UTSW	8	93,946,149 (GRCm39)	splice site	probably benign
R0626:Ces1e	UTSW	8	93,950,671 (GRCm39)	missense	probably benign	0.01
R3013:Ces1e	UTSW	8	93,929,915 (GRCm39)	missense	probably benign	0.26
R4810:Ces1e	UTSW	8	93,935,259 (GRCm39)	missense	probably benign	0.00
R4883:Ces1e	UTSW	8	93,950,716 (GRCm39)	missense	probably benign	0.07
R5155:Ces1e	UTSW	8	93,928,034 (GRCm39)	makesense	probably null
R5262:Ces1e	UTSW	8	93,950,586 (GRCm39)	missense	probably damaging	1.00
R5287:Ces1e	UTSW	8	93,935,240 (GRCm39)	missense	probably benign	0.00
R5403:Ces1e	UTSW	8	93,935,240 (GRCm39)	missense	probably benign	0.00
R5410:Ces1e	UTSW	8	93,937,070 (GRCm39)	missense	possibly damaging	0.94
R5813:Ces1e	UTSW	8	93,948,305 (GRCm39)	nonsense	probably null
R5891:Ces1e	UTSW	8	93,929,894 (GRCm39)	missense	possibly damaging	0.93
R5966:Ces1e	UTSW	8	93,946,001 (GRCm39)	critical splice donor site	probably null
R6199:Ces1e	UTSW	8	93,944,163 (GRCm39)	missense	probably damaging	1.00
R6381:Ces1e	UTSW	8	93,944,206 (GRCm39)	missense	probably damaging	1.00
R6620:Ces1e	UTSW	8	93,950,546 (GRCm39)	missense	probably damaging	1.00
R6753:Ces1e	UTSW	8	93,941,756 (GRCm39)	missense	probably damaging	0.96
R7180:Ces1e	UTSW	8	93,941,772 (GRCm39)	missense	probably damaging	1.00
R7393:Ces1e	UTSW	8	93,937,045 (GRCm39)	missense	probably benign	0.31
R7421:Ces1e	UTSW	8	93,941,703 (GRCm39)	missense	probably benign	0.00
R8296:Ces1e	UTSW	8	93,929,947 (GRCm39)	missense	probably benign	0.11
R8901:Ces1e	UTSW	8	93,937,103 (GRCm39)	missense	probably damaging	1.00
R9766:Ces1e	UTSW	8	93,946,031 (GRCm39)	missense	probably damaging	1.00
X0014:Ces1e	UTSW	8	93,929,903 (GRCm39)	missense	probably damaging	1.00
Z1088:Ces1e	UTSW	8	93,937,046 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTCTCCTAAAGACCTGTGCACC -3'
(R):5'- TTGCCCTCTGTAATAAGGCTTTTG -3'

Sequencing Primer
(F):5'- GACCTGTGCACCACAAAAAGG -3'
(R):5'- AGGAGATCAACCTCAGCA -3'

Posted On

2015-04-02