Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00841:Ces1g'

9638

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces1g

Ensembl Gene

ENSMUSG00000057074

Gene Name

carboxylesterase 1G

Synonyms

Ses-1, Ces-1, Ces1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL00841

Quality Score

Status

Chromosome

Chromosomal Location

94028997-94063837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94029615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 539 (D539V)

Ref Sequence

ENSEMBL: ENSMUSP00000037555 (fasta)

Gene Model

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

AlphaFold

Q8VCC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044602
AA Change: D539V

PolyPhen 2 Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037555
Gene: ENSMUSG00000057074
AA Change: D539V

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

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1b	T	C	13: 96,554,338 (GRCm39)		probably benign	Het
Arl2	C	A	19: 6,185,999 (GRCm39)		probably benign	Het
Atp8b4	A	G	2: 126,225,689 (GRCm39)	S514P	probably damaging	Het
Ces1a	G	T	8: 93,766,164 (GRCm39)	S150*	probably null	Het
Col24a1	A	G	3: 145,068,064 (GRCm39)	D752G	probably damaging	Het
Ctsd	A	C	7: 141,936,418 (GRCm39)	S128A	probably damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dscam	G	A	16: 96,621,077 (GRCm39)	L544F	probably damaging	Het
Fry	T	A	5: 150,346,189 (GRCm39)	I1566N	probably benign	Het
Fut8	T	A	12: 77,412,095 (GRCm39)	H148Q	probably benign	Het
Ighv1-64	A	T	12: 115,471,596 (GRCm39)	M1K	probably null	Het
Ivd	T	C	2: 118,707,383 (GRCm39)	V299A	probably benign	Het
Kcnab3	A	G	11: 69,222,129 (GRCm39)	I292V	probably benign	Het
Mfhas1	T	A	8: 36,058,040 (GRCm39)	N838K	probably damaging	Het
Prom1	A	T	5: 44,220,458 (GRCm39)		probably benign	Het
Ros1	T	G	10: 52,020,969 (GRCm39)	T648P	possibly damaging	Het
Scel	A	T	14: 103,767,431 (GRCm39)	Q30L	probably benign	Het
Skp2	A	C	15: 9,139,574 (GRCm39)	S40R	probably benign	Het
Tm9sf1	T	A	14: 55,880,184 (GRCm39)	K71M	probably damaging	Het
Vegfb	A	G	19: 6,963,846 (GRCm39)	W38R	probably damaging	Het
Xpo1	T	G	11: 23,235,094 (GRCm39)	F588V	probably damaging	Het
Zfp990	C	A	4: 145,264,438 (GRCm39)	L479M	probably damaging	Het

Other mutations in Ces1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Ces1g	APN	8	94,029,660 (GRCm39)	missense	probably damaging	1.00
IGL01583:Ces1g	APN	8	94,033,587 (GRCm39)	missense	probably damaging	1.00
IGL02993:Ces1g	APN	8	94,043,707 (GRCm39)	missense	probably benign	0.00
IGL03386:Ces1g	APN	8	94,052,440 (GRCm39)	missense	probably benign	0.00
R0359:Ces1g	UTSW	8	94,055,163 (GRCm39)	splice site	probably benign
R0373:Ces1g	UTSW	8	94,057,821 (GRCm39)	missense	probably benign	0.06
R0499:Ces1g	UTSW	8	94,060,317 (GRCm39)	missense	probably benign	0.01
R0689:Ces1g	UTSW	8	94,055,035 (GRCm39)	missense	probably damaging	1.00
R1756:Ces1g	UTSW	8	94,033,582 (GRCm39)	missense	probably benign	0.03
R3052:Ces1g	UTSW	8	94,061,676 (GRCm39)	missense	possibly damaging	0.50
R3150:Ces1g	UTSW	8	94,052,444 (GRCm39)	missense	probably benign	0.45
R3899:Ces1g	UTSW	8	94,029,678 (GRCm39)	missense	probably damaging	1.00
R3966:Ces1g	UTSW	8	94,055,139 (GRCm39)	missense	possibly damaging	0.50
R4134:Ces1g	UTSW	8	94,046,500 (GRCm39)	missense	probably benign	0.00
R4198:Ces1g	UTSW	8	94,032,496 (GRCm39)	missense	probably benign	0.11
R4332:Ces1g	UTSW	8	94,046,446 (GRCm39)	missense	probably benign	0.01
R4719:Ces1g	UTSW	8	94,043,718 (GRCm39)	missense	possibly damaging	0.59
R4841:Ces1g	UTSW	8	94,060,323 (GRCm39)	missense	probably benign	0.01
R4842:Ces1g	UTSW	8	94,060,323 (GRCm39)	missense	probably benign	0.01
R4843:Ces1g	UTSW	8	94,057,893 (GRCm39)	missense	probably damaging	1.00
R5344:Ces1g	UTSW	8	94,063,821 (GRCm39)	start gained	probably benign
R5405:Ces1g	UTSW	8	94,032,496 (GRCm39)	missense	probably benign	0.29
R5425:Ces1g	UTSW	8	94,052,428 (GRCm39)	missense	probably benign	0.20
R5884:Ces1g	UTSW	8	94,033,558 (GRCm39)	missense	probably benign	0.24
R6022:Ces1g	UTSW	8	94,055,085 (GRCm39)	missense	probably damaging	1.00
R6183:Ces1g	UTSW	8	94,057,867 (GRCm39)	missense	possibly damaging	0.48
R6197:Ces1g	UTSW	8	94,063,764 (GRCm39)	missense	probably benign	0.01
R6307:Ces1g	UTSW	8	94,057,820 (GRCm39)	missense	possibly damaging	0.60
R6688:Ces1g	UTSW	8	94,033,600 (GRCm39)	missense	possibly damaging	0.92
R6863:Ces1g	UTSW	8	94,043,647 (GRCm39)	missense	possibly damaging	0.92
R7097:Ces1g	UTSW	8	94,043,665 (GRCm39)	missense	possibly damaging	0.89
R7122:Ces1g	UTSW	8	94,043,665 (GRCm39)	missense	possibly damaging	0.89
R7180:Ces1g	UTSW	8	94,029,576 (GRCm39)	missense	probably benign	0.04
R7202:Ces1g	UTSW	8	94,029,595 (GRCm39)	missense	probably benign	0.01
R7361:Ces1g	UTSW	8	94,060,307 (GRCm39)	missense	not run
R7537:Ces1g	UTSW	8	94,046,455 (GRCm39)	missense	probably benign	0.01
R7621:Ces1g	UTSW	8	94,055,094 (GRCm39)	missense	probably damaging	1.00
R8200:Ces1g	UTSW	8	94,055,085 (GRCm39)	missense	probably damaging	1.00
R8895:Ces1g	UTSW	8	94,046,512 (GRCm39)	missense	possibly damaging	0.83
R9248:Ces1g	UTSW	8	94,060,319 (GRCm39)	missense	possibly damaging	0.62
R9290:Ces1g	UTSW	8	94,029,545 (GRCm39)	missense	probably benign	0.07
R9324:Ces1g	UTSW	8	94,055,118 (GRCm39)	missense	probably damaging	1.00
R9361:Ces1g	UTSW	8	94,061,646 (GRCm39)	critical splice donor site	probably null
R9565:Ces1g	UTSW	8	94,061,792 (GRCm39)	missense	probably benign	0.06
R9615:Ces1g	UTSW	8	94,061,807 (GRCm39)	missense	probably damaging	1.00
Z1176:Ces1g	UTSW	8	94,052,439 (GRCm39)	missense	probably benign	0.02

Posted On

2012-12-06