Mutagenetix > Incidental Mutation

Incidental Mutation 'R7361:Ces1g'

571341

Institutional Source

Beutler Lab

Gene Symbol

Ces1g

Ensembl Gene

ENSMUSG00000057074

Gene Name

carboxylesterase 1G

Synonyms

Ses-1, Ces1, Ces-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93302369-93337308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93333679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 104 (Q104R)

Ref Sequence

ENSEMBL: ENSMUSP00000037555 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044602]

AlphaFold

Q8VCC2

Predicted Effect

not run
Transcript: ENSMUST00000044602
AA Change: Q104R

SMART Domains

Protein: ENSMUSP00000037555
Gene: ENSMUSG00000057074
AA Change: Q104R

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	3.6e-168	PFAM
Pfam:Abhydrolase_3	136	295	5.7e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. The expression and activity of this gene is age-related but independent of growth hormone level. This gene is clustered with Ces7 and Ces3 on chromosome 8. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	C	T	6: 132,627,471	V4I	unknown	Het
Actn1	A	T	12: 80,193,715	D199E	probably benign	Het
Adam17	T	C	12: 21,325,601	D739G	probably damaging	Het
Agmat	T	C	4: 141,746,852	S15P	probably benign	Het
Ahsa2	A	G	11: 23,491,099	S229P	probably damaging	Het
Arhgef3	A	G	14: 27,265,578	D36G	possibly damaging	Het
BC055324	A	T	1: 163,986,033	D207E	possibly damaging	Het
C6	C	A	15: 4,796,922	Y662*	probably null	Het
Ccs	T	C	19: 4,833,350	D140G	probably benign	Het
Cdc42bpb	A	G	12: 111,345,605	L65P	probably damaging	Het
Cdh24	A	T	14: 54,638,921	V149E	possibly damaging	Het
Cdk12	C	A	11: 98,210,468	S384*	probably null	Het
Cep350	G	A	1: 155,901,491	A1701V	probably damaging	Het
Chd5	A	G	4: 152,363,288	H537R	probably damaging	Het
Cln5	T	A	14: 103,075,903	V197D	probably damaging	Het
Coq7	A	G	7: 118,529,575	V79A	probably benign	Het
Cp	A	T	3: 19,964,306	N58I	probably benign	Het
Cplx2	A	T	13: 54,378,826	M16L	probably benign	Het
Crot	A	G	5: 8,977,534	L266S	probably damaging	Het
Ctbs	T	A	3: 146,458,754	Y221N	probably damaging	Het
Cul7	T	A	17: 46,657,007	L707Q	probably damaging	Het
D430041D05Rik	G	A	2: 104,255,018	T378I	possibly damaging	Het
Dixdc1	T	C	9: 50,688,653	I364V	probably damaging	Het
Dnah11	T	A	12: 118,018,742	H2564L	probably damaging	Het
Dnajc3	T	C	14: 118,938,164	Y26H	probably benign	Het
Dpysl2	G	A	14: 66,834,215	H159Y	possibly damaging	Het
Ehmt1	T	A	2: 24,856,701	K423I	possibly damaging	Het
Enpp7	A	G	11: 118,992,159	N353S	probably benign	Het
Ext1	G	A	15: 53,344,723	A214V	probably damaging	Het
Fbxo18	A	T	2: 11,747,076	I937N	probably damaging	Het
Fbxo39	T	C	11: 72,316,974	Y51H	possibly damaging	Het
Fry	A	G	5: 150,436,847	H1986R	possibly damaging	Het
Gm2022	A	G	12: 87,895,400	N11D	unknown	Het
Grem2	T	C	1: 174,836,948	K112E	probably benign	Het
Gucy1a1	A	G	3: 82,097,720	V586A	probably damaging	Het
Il12rb2	G	T	6: 67,303,466	L586I	possibly damaging	Het
Il18	T	C	9: 50,579,314	I83T	probably damaging	Het
Irs1	A	T	1: 82,289,114	Y460*	probably null	Het
Jak1	G	T	4: 101,184,339	Q161K	possibly damaging	Het
Jakmip1	T	A	5: 37,118,804	L486Q	probably damaging	Het
Jmjd1c	C	A	10: 67,218,364	Q16K	probably benign	Het
Kidins220	T	C	12: 25,057,000	L1393P	probably benign	Het
Klhl24	A	C	16: 20,118,000	I453L	probably benign	Het
Krtap2-4	C	T	11: 99,614,594	D64N	probably damaging	Het
Man1a	T	A	10: 53,908,009	D592V	probably damaging	Het
Mepe	T	A	5: 104,337,143	Y50N	probably benign	Het
Mier3	G	A	13: 111,705,249	G115S	possibly damaging	Het
Muc4	T	A	16: 32,754,670	S1515T	probably benign	Het
Nalcn	T	C	14: 123,291,839	D1408G	probably benign	Het
Nav1	T	C	1: 135,452,853	M1443V	unknown	Het
Nckap1l	A	C	15: 103,471,282	N332T	possibly damaging	Het
Neurl4	T	A	11: 69,912,079	L1467Q	probably benign	Het
Notch2	A	G	3: 98,131,402	N1287S	probably benign	Het
Nr4a3	C	T	4: 48,083,203	P579S	probably benign	Het
Nrxn2	A	T	19: 6,517,082	H1329L	probably benign	Het
Nynrin	A	T	14: 55,870,400	H988L	possibly damaging	Het
Olfr1183	A	G	2: 88,461,492	T70A	probably benign	Het
Olfr140	A	G	2: 90,051,745	I193T	probably benign	Het
Olfr394	T	A	11: 73,888,001	I124F	probably damaging	Het
Olfr594	G	T	7: 103,220,623	D302Y	possibly damaging	Het
Olfr855	T	A	9: 19,584,560	F8I	probably benign	Het
Pclo	G	A	5: 14,793,868	S1534N	probably damaging	Het
Pign	A	G	1: 105,585,053	V635A	probably benign	Het
Pkhd1	T	C	1: 20,593,953	T134A	probably damaging	Het
Plcb4	A	T	2: 135,976,148	N790I	possibly damaging	Het
Plxna2	G	T	1: 194,799,779	C1453F	probably damaging	Het
Plxna4	A	G	6: 32,196,122		probably null	Het
Pnpla2	A	G	7: 141,457,431	I116V	possibly damaging	Het
Polq	A	G	16: 37,060,428	T985A	probably benign	Het
Ppp1r32	T	G	19: 10,479,579	D134A	probably damaging	Het
Pramef6	T	C	4: 143,895,886	T300A	possibly damaging	Het
Prex1	T	C	2: 166,713,570	N50S	probably benign	Het
Ptgfrn	G	A	3: 101,077,444	A144V	probably benign	Het
Rad54b	G	A	4: 11,599,782	G329S	probably damaging	Het
Rrbp1	A	G	2: 143,967,444	L931S	probably benign	Het
Sipa1l2	A	G	8: 125,453,332	S1109P	probably damaging	Het
Slc26a7	G	T	4: 14,546,305	N341K	probably damaging	Het
Smg1	A	C	7: 118,184,977	D958E	unknown	Het
Smg6	T	A	11: 74,930,153	S417T	probably benign	Het
Srgap3	A	G	6: 112,746,921	V550A	probably damaging	Het
Terb1	T	A	8: 104,468,799	D570V	probably damaging	Het
Tet3	A	G	6: 83,368,094	V1787A	probably benign	Het
Tor1a	A	T	2: 30,963,741	D192E	probably benign	Het
Tpr	T	C	1: 150,447,621	S2379P	possibly damaging	Het
Trip12	A	T	1: 84,750,442	F1138L	probably damaging	Het
Trpv1	T	C	11: 73,260,377	L797P	probably damaging	Het
Tut1	T	C	19: 8,965,334	L595P	probably damaging	Het
Ubl7	T	C	9: 57,914,622	S85P	probably damaging	Het
Urb1	C	A	16: 90,774,768	S1051I	probably damaging	Het
Usp17le	A	G	7: 104,768,877	W353R	probably damaging	Het
Usp44	T	C	10: 93,846,468	L260S	probably benign	Het
Wsb1	T	A	11: 79,240,797		probably null	Het
Xrcc2	A	T	5: 25,692,757	C65S	probably damaging	Het
Zfp316	T	A	5: 143,254,675	M530L	probably benign	Het
Zfp473	T	C	7: 44,733,139	H590R	probably damaging	Het
Zfp983	T	A	17: 21,661,934	H259Q	probably damaging	Het

Other mutations in Ces1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Ces1g	APN	8	93302987	missense	possibly damaging	0.61
IGL00971:Ces1g	APN	8	93303032	missense	probably damaging	1.00
IGL01583:Ces1g	APN	8	93306959	missense	probably damaging	1.00
IGL02993:Ces1g	APN	8	93317079	missense	probably benign	0.00
IGL03386:Ces1g	APN	8	93325812	missense	probably benign	0.00
R0359:Ces1g	UTSW	8	93328535	splice site	probably benign
R0373:Ces1g	UTSW	8	93331193	missense	probably benign	0.06
R0499:Ces1g	UTSW	8	93333689	missense	probably benign	0.01
R0689:Ces1g	UTSW	8	93328407	missense	probably damaging	1.00
R1756:Ces1g	UTSW	8	93306954	missense	probably benign	0.03
R3052:Ces1g	UTSW	8	93335048	missense	possibly damaging	0.50
R3150:Ces1g	UTSW	8	93325816	missense	probably benign	0.45
R3899:Ces1g	UTSW	8	93303050	missense	probably damaging	1.00
R3966:Ces1g	UTSW	8	93328511	missense	possibly damaging	0.50
R4134:Ces1g	UTSW	8	93319872	missense	probably benign	0.00
R4198:Ces1g	UTSW	8	93305868	missense	probably benign	0.11
R4332:Ces1g	UTSW	8	93319818	missense	probably benign	0.01
R4719:Ces1g	UTSW	8	93317090	missense	possibly damaging	0.59
R4841:Ces1g	UTSW	8	93333695	missense	probably benign	0.01
R4842:Ces1g	UTSW	8	93333695	missense	probably benign	0.01
R4843:Ces1g	UTSW	8	93331265	missense	probably damaging	1.00
R5344:Ces1g	UTSW	8	93337193	start gained	probably benign
R5405:Ces1g	UTSW	8	93305868	missense	probably benign	0.29
R5425:Ces1g	UTSW	8	93325800	missense	probably benign	0.20
R5884:Ces1g	UTSW	8	93306930	missense	probably benign	0.24
R6022:Ces1g	UTSW	8	93328457	missense	probably damaging	1.00
R6183:Ces1g	UTSW	8	93331239	missense	possibly damaging	0.48
R6197:Ces1g	UTSW	8	93337136	missense	probably benign	0.01
R6307:Ces1g	UTSW	8	93331192	missense	possibly damaging	0.60
R6688:Ces1g	UTSW	8	93306972	missense	possibly damaging	0.92
R6863:Ces1g	UTSW	8	93317019	missense	possibly damaging	0.92
R7097:Ces1g	UTSW	8	93317037	missense	possibly damaging	0.89
R7122:Ces1g	UTSW	8	93317037	missense	possibly damaging	0.89
R7180:Ces1g	UTSW	8	93302948	missense	probably benign	0.04
R7202:Ces1g	UTSW	8	93302967	missense	probably benign	0.01
R7537:Ces1g	UTSW	8	93319827	missense	probably benign	0.01
R7621:Ces1g	UTSW	8	93328466	missense	probably damaging	1.00
R8200:Ces1g	UTSW	8	93328457	missense	probably damaging	1.00
R8895:Ces1g	UTSW	8	93319884	missense	possibly damaging	0.83
R9248:Ces1g	UTSW	8	93333691	missense	possibly damaging	0.62
R9290:Ces1g	UTSW	8	93302917	missense	probably benign	0.07
R9324:Ces1g	UTSW	8	93328490	missense	probably damaging	1.00
R9361:Ces1g	UTSW	8	93335018	critical splice donor site	probably null
R9565:Ces1g	UTSW	8	93335164	missense	probably benign	0.06
R9615:Ces1g	UTSW	8	93335179	missense	probably damaging	1.00
Z1176:Ces1g	UTSW	8	93325811	missense	probably benign	0.02

Predicted Primers

Posted On

2019-09-13