Mutagenetix > Incidental Mutation

Incidental Mutation 'R4841:Ces1g'

371837

Institutional Source

Beutler Lab

Gene Symbol

Ces1g

Ensembl Gene

ENSMUSG00000057074

Gene Name

carboxylesterase 1G

Synonyms

Ses-1, Ces-1, Ces1

MMRRC Submission

042454-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R4841 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94028997-94063837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94060323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 99 (E99K)

Ref Sequence

ENSEMBL: ENSMUSP00000037555 (fasta)

Gene Model

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

AlphaFold

Q8VCC2

Predicted Effect

probably benign
Transcript: ENSMUST00000044602
AA Change: E99K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000037555
Gene: ENSMUSG00000057074
AA Change: E99K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	A	T	17: 15,164,001 (GRCm39)	I43L	possibly damaging	Het
4933427I04Rik	T	A	4: 123,754,170 (GRCm39)	M28K	probably benign	Het
A2m	A	T	6: 121,623,803 (GRCm39)	I390F	probably benign	Het
Abcc8	T	C	7: 45,800,252 (GRCm39)	K510R	probably damaging	Het
Adamts6	A	G	13: 104,449,295 (GRCm39)	D39G	probably benign	Het
Adgrl3	T	C	5: 81,942,118 (GRCm39)	S1326P	possibly damaging	Het
Adgrv1	A	G	13: 81,651,120 (GRCm39)		probably null	Het
Ap3b2	G	A	7: 81,127,678 (GRCm39)	A166V	probably damaging	Het
Bbox1	T	A	2: 110,134,084 (GRCm39)		probably null	Het
Bckdk	A	G	7: 127,504,633 (GRCm39)		probably null	Het
Cand1	C	A	10: 119,049,451 (GRCm39)		probably null	Het
Capn5	T	C	7: 97,780,879 (GRCm39)		probably null	Het
Ccdc121rt2	A	T	5: 112,598,106 (GRCm39)	K218*	probably null	Het
Cd209c	G	T	8: 3,995,905 (GRCm39)	R2S	probably benign	Het
Cnmd	A	G	14: 79,887,762 (GRCm39)	I153T	possibly damaging	Het
Cntrob	C	G	11: 69,206,220 (GRCm39)	L315F	possibly damaging	Het
Cspg4b	G	A	13: 113,502,724 (GRCm39)	G143D	probably benign	Het
Ctdp1	A	G	18: 80,451,941 (GRCm39)	S145P	unknown	Het
Dmrt2	G	A	19: 25,655,031 (GRCm39)	G210D	probably damaging	Het
Dnajc16	A	G	4: 141,501,936 (GRCm39)	F298S	probably damaging	Het
Dock5	T	C	14: 68,055,012 (GRCm39)	D618G	probably damaging	Het
Drc3	G	A	11: 60,261,361 (GRCm39)	A171T	probably benign	Het
Dspp	A	T	5: 104,325,052 (GRCm39)	S472C	unknown	Het
Dspp	G	T	5: 104,325,053 (GRCm39)	S472I	unknown	Het
Ecel1	A	T	1: 87,081,023 (GRCm39)	N322K	probably damaging	Het
Eftud2	A	G	11: 102,745,640 (GRCm39)	F362L	probably damaging	Het
Egfr	C	T	11: 16,861,607 (GRCm39)	H1129Y	probably benign	Het
Erich3	T	A	3: 154,410,480 (GRCm39)	F112I	possibly damaging	Het
Fam107b	T	C	2: 3,779,580 (GRCm39)	L261S	probably damaging	Het
Fancd2	T	C	6: 113,539,391 (GRCm39)	S239P	probably damaging	Het
Fbp2	C	A	13: 63,002,727 (GRCm39)	Q108H	probably benign	Het
Fcgbpl1	T	A	7: 27,850,147 (GRCm39)	C1198S	probably damaging	Het
Gask1b	G	A	3: 79,843,912 (GRCm39)	R377H	probably damaging	Het
Gipr	C	T	7: 18,896,601 (GRCm39)	R165H	probably damaging	Het
Gje1	C	T	10: 14,593,082 (GRCm39)	G45R	probably null	Het
Gpat2	C	G	2: 127,275,887 (GRCm39)	T555S	probably benign	Het
Grik3	C	A	4: 125,584,969 (GRCm39)	N612K	probably damaging	Het
Iqcb1	A	G	16: 36,655,952 (GRCm39)	E113G	probably benign	Het
Kat8	A	G	7: 127,524,366 (GRCm39)	I415V	probably benign	Het
Kcnk10	A	T	12: 98,401,175 (GRCm39)	M486K	probably benign	Het
Kif21b	C	A	1: 136,072,958 (GRCm39)	H119N	probably damaging	Het
Leng9	T	C	7: 4,152,385 (GRCm39)	D97G	probably damaging	Het
Lrguk	T	C	6: 34,069,802 (GRCm39)	V559A	probably damaging	Het
Lrp1	G	T	10: 127,419,805 (GRCm39)	R935S	probably damaging	Het
Lrrcc1	C	A	3: 14,627,571 (GRCm39)	D503E	probably benign	Het
Mybph	A	T	1: 134,126,233 (GRCm39)	E349V	probably damaging	Het
Myzap	A	G	9: 71,456,037 (GRCm39)	S328P	probably damaging	Het
Nbeal1	T	C	1: 60,292,534 (GRCm39)	L1062P	probably damaging	Het
Nepro	G	A	16: 44,555,160 (GRCm39)	S412N	probably null	Het
Nudt5	T	C	2: 5,869,239 (GRCm39)	V155A	probably benign	Het
Or13a25	A	T	7: 140,247,502 (GRCm39)	I94F	probably damaging	Het
Or4k51	C	G	2: 111,584,679 (GRCm39)	F28L	probably benign	Het
Or5ae2	G	T	7: 84,506,328 (GRCm39)	L250F	probably damaging	Het
Or6ae1	A	G	7: 139,742,602 (GRCm39)	L87P	possibly damaging	Het
Osbpl3	T	A	6: 50,286,356 (GRCm39)	N623I	probably damaging	Het
Pde4dip	T	A	3: 97,700,844 (GRCm39)	H220L	probably damaging	Het
Pde9a	T	A	17: 31,662,135 (GRCm39)		probably null	Het
Pex16	T	G	2: 92,209,544 (GRCm39)		probably null	Het
Pnpla7	A	G	2: 24,870,064 (GRCm39)	T15A	probably benign	Het
Polq	G	T	16: 36,869,145 (GRCm39)		probably null	Het
Ppfia2	C	T	10: 106,690,818 (GRCm39)	T553I	probably benign	Het
Rreb1	G	A	13: 38,100,502 (GRCm39)	C211Y	probably benign	Het
Rundc3b	A	G	5: 8,578,742 (GRCm39)	L222P	probably damaging	Het
Ryr3	T	C	2: 112,478,718 (GRCm39)	N4405S	probably damaging	Het
Sardh	A	G	2: 27,081,967 (GRCm39)	V853A	probably benign	Het
Scfd1	T	C	12: 51,436,109 (GRCm39)	V86A	probably damaging	Het
Scube3	G	A	17: 28,383,097 (GRCm39)	C425Y	probably damaging	Het
Sfta2	T	C	17: 35,960,773 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,031,049 (GRCm39)	Y738H	probably damaging	Het
Shc2	T	C	10: 79,458,295 (GRCm39)	R463G	probably damaging	Het
Slc4a10	T	C	2: 62,087,939 (GRCm39)	V414A	possibly damaging	Het
Slc9a3	G	T	13: 74,313,956 (GRCm39)	D755Y	probably damaging	Het
Snrpb2	C	A	2: 142,910,237 (GRCm39)	F98L	possibly damaging	Het
Socs7	T	A	11: 97,267,829 (GRCm39)	I320N	possibly damaging	Het
Speer2	A	T	16: 69,654,988 (GRCm39)	M159K	probably benign	Het
Sppl2c	A	C	11: 104,078,478 (GRCm39)	H426P	probably benign	Het
Stxbp5	C	A	10: 9,638,635 (GRCm39)	V1055L	probably benign	Het
Synpo	A	T	18: 60,736,684 (GRCm39)	S421T	probably damaging	Het
Taf6l	A	G	19: 8,759,770 (GRCm39)	V135A	possibly damaging	Het
Tafa5	C	T	15: 87,509,637 (GRCm39)		probably benign	Het
Trim58	G	A	11: 58,542,150 (GRCm39)	G370E	probably damaging	Het
Tshz2	T	A	2: 169,728,167 (GRCm39)	I452N	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Vit	T	C	17: 78,909,308 (GRCm39)	S252P	probably benign	Het
Vmn1r173	A	T	7: 23,402,361 (GRCm39)	I199F	probably damaging	Het
Vmn2r114	T	A	17: 23,529,336 (GRCm39)	R255S	probably benign	Het
Vmn2r17	A	G	5: 109,582,246 (GRCm39)	N545S	probably damaging	Het
Zbtb44	T	G	9: 30,964,701 (GRCm39)	V37G	probably damaging	Het
Zfp865	A	G	7: 5,034,640 (GRCm39)	Y875C	probably damaging	Het

Other mutations in Ces1g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Ces1g	APN	8	94,029,615 (GRCm39)	missense	possibly damaging	0.61
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGAAGACACTGCCCCTAG -3'
(R):5'- TCTCTCTGCAGAGTTAGAAGGC -3'

Sequencing Primer
(F):5'- ACACTGCCCCTAGCTGCC -3'
(R):5'- CTCTCTGCAGAGTTAGAAGGCATTAG -3'

Posted On

2016-03-01