Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Ces1e'

426506

Institutional Source

Beutler Lab

Gene Symbol

Ces1e

Ensembl Gene

ENSMUSG00000061959

Gene Name

carboxylesterase 1E

Synonyms

Es22, Eg, egasyn, Es-22

MMRRC Submission

042979-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93201218-93229619 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93210442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 334 (I334F)

Ref Sequence

ENSEMBL: ENSMUSP00000135636 (fasta)

Gene Model

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

AlphaFold

Q64176

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034173
AA Change: I335F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959
AA Change: I335F

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: ENSMUST00000175983

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176282
AA Change: I334F

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959
AA Change: I334F

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,126,473		noncoding transcript	Het
Adam24	A	G	8: 40,681,064	M524V	probably benign	Het
Adamts20	T	A	15: 94,281,957	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,611,237	I1350L	probably damaging	Het
Arhgap17	A	G	7: 123,297,493		probably null	Het
Ascl5	A	T	1: 136,051,188	I129F	probably damaging	Het
AU040320	A	T	4: 126,823,716	H362L	possibly damaging	Het
Bpifb9a	A	T	2: 154,270,235	N564Y	probably benign	Het
Cdon	G	T	9: 35,470,035	D574Y	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Clip2	G	A	5: 134,522,791	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,278,353	T195S	probably benign	Het
Csmd2	C	A	4: 128,548,819	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,699,284	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,547,448	T696M	probably benign	Het
Ep300	T	C	15: 81,648,854	M1704T	unknown	Het
Exoc2	A	G	13: 30,864,856	F738S	probably damaging	Het
Fis1	A	G	5: 136,965,566	E36G	probably damaging	Het
Galnt1	A	G	18: 24,267,547	I237V	probably benign	Het
Gspt1	A	T	16: 11,230,510	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hykk	G	A	9: 54,946,066	C224Y	probably damaging	Het
Ifi211	T	C	1: 173,906,263	T111A	probably benign	Het
Il17rd	T	C	14: 27,095,911	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,091,366	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,909,262	T213A	probably damaging	Het
Madd	C	T	2: 91,154,514	R1318Q	probably damaging	Het
Mecom	C	A	3: 29,997,721	A182S	probably benign	Het
Olfr1305	C	T	2: 111,873,292	A188T	probably damaging	Het
Olfr20	C	T	11: 73,353,806	P18S	probably benign	Het
Olfr272	C	A	4: 52,910,991	A268S	probably benign	Het
Olfr67	A	T	7: 103,787,374	V301E	probably damaging	Het
Otud4	T	A	8: 79,672,997	M780K	probably benign	Het
Pdia5	A	G	16: 35,453,536	V130A	probably damaging	Het
Phldb2	T	A	16: 45,825,612	H202L	possibly damaging	Het
Ppig	G	A	2: 69,735,897	G136E	probably null	Het
Prr14l	C	A	5: 32,827,777	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,188,330	V182A	possibly damaging	Het
Rai14	A	G	15: 10,574,938	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,497,047	I115T	probably benign	Het
Rc3h1	G	T	1: 160,964,963	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,918,291	Q21L	probably benign	Het
Rfx8	A	G	1: 39,710,156		probably null	Het
Scap	A	G	9: 110,374,182		probably null	Het
Shank1	T	A	7: 44,351,822	S988R	unknown	Het
Slc16a14	T	A	1: 84,907,424	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,281,368		probably null	Het
Tab2	T	C	10: 7,919,821	H225R	possibly damaging	Het
Tbx19	T	A	1: 165,160,372	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,530,106	I268K	probably damaging	Het
Tox2	A	G	2: 163,320,373	M388V	probably benign	Het
Trbv17	T	C	6: 41,163,538	L109P	probably damaging	Het
Trim72	A	G	7: 128,009,923	H299R	probably damaging	Het
Vmn1r63	C	T	7: 5,803,190	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,225,258	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,521,231	V724A	probably benign	Het
Zscan10	T	C	17: 23,610,421	F569L	probably damaging	Het

Other mutations in Ces1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Ces1e	APN	8	93217617	missense	probably damaging	0.98
IGL01358:Ces1e	APN	8	93214150	missense	probably damaging	0.99
IGL01597:Ces1e	APN	8	93210373	missense	probably benign	0.01
IGL01875:Ces1e	APN	8	93223896	missense	probably benign	0.03
IGL02244:Ces1e	APN	8	93212349	splice site	probably null
IGL03260:Ces1e	APN	8	93223917	missense	probably benign	0.00
IGL03302:Ces1e	APN	8	93223893	critical splice donor site	probably null
chaingun	UTSW	8	93223958	missense	probably damaging	1.00
Chomper	UTSW	8	93201839	critical splice donor site	probably null
PIT4651001:Ces1e	UTSW	8	93215083	missense	probably benign	0.00
R0158:Ces1e	UTSW	8	93219429	missense	probably benign	0.09
R0317:Ces1e	UTSW	8	93224039	missense	probably benign	0.03
R0530:Ces1e	UTSW	8	93219521	splice site	probably benign
R0626:Ces1e	UTSW	8	93224043	missense	probably benign	0.01
R3013:Ces1e	UTSW	8	93203287	missense	probably benign	0.26
R3815:Ces1e	UTSW	8	93201839	critical splice donor site	probably null
R4810:Ces1e	UTSW	8	93208631	missense	probably benign	0.00
R4883:Ces1e	UTSW	8	93224088	missense	probably benign	0.07
R5155:Ces1e	UTSW	8	93201406	makesense	probably null
R5262:Ces1e	UTSW	8	93223958	missense	probably damaging	1.00
R5287:Ces1e	UTSW	8	93208612	missense	probably benign	0.00
R5403:Ces1e	UTSW	8	93208612	missense	probably benign	0.00
R5813:Ces1e	UTSW	8	93221677	nonsense	probably null
R5891:Ces1e	UTSW	8	93203266	missense	possibly damaging	0.93
R5966:Ces1e	UTSW	8	93219373	critical splice donor site	probably null
R6199:Ces1e	UTSW	8	93217535	missense	probably damaging	1.00
R6381:Ces1e	UTSW	8	93217578	missense	probably damaging	1.00
R6620:Ces1e	UTSW	8	93223918	missense	probably damaging	1.00
R6753:Ces1e	UTSW	8	93215128	missense	probably damaging	0.96
R7180:Ces1e	UTSW	8	93215144	missense	probably damaging	1.00
R7393:Ces1e	UTSW	8	93210417	missense	probably benign	0.31
R7421:Ces1e	UTSW	8	93215075	missense	probably benign	0.00
R8296:Ces1e	UTSW	8	93203319	missense	probably benign	0.11
R8901:Ces1e	UTSW	8	93210475	missense	probably damaging	1.00
R9766:Ces1e	UTSW	8	93219403	missense	probably damaging	1.00
X0014:Ces1e	UTSW	8	93203275	missense	probably damaging	1.00
Z1088:Ces1e	UTSW	8	93210418	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATGCCCTAGGTACAAGCAGAG -3'
(R):5'- ATGTCCCAAATCAGGCCTTTG -3'

Sequencing Primer
(F):5'- CCTAGGTACAAGCAGAGGTCCAG -3'
(R):5'- GGGGCACATACACTATTAATGTCC -3'

Posted On

2016-09-01