Mutagenetix > Incidental Mutation

Incidental Mutation 'R7180:Ces1g'

558921

Institutional Source

Beutler Lab

Gene Symbol

Ces1g

Ensembl Gene

ENSMUSG00000057074

Gene Name

carboxylesterase 1G

Synonyms

Ses-1, Ces-1, Ces1

MMRRC Submission

045233-MU

Accession Numbers

Essential gene?

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

Stock #

R7180 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94028997-94063837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94029576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 552 (E552V)

Ref Sequence

ENSEMBL: ENSMUSP00000037555 (fasta)

Gene Model

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

AlphaFold

Q8VCC2

Predicted Effect

probably benign
Transcript: ENSMUST00000044602
AA Change: E552V

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000037555
Gene: ENSMUSG00000057074
AA Change: E552V

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	C	4: 49,381,803 (GRCm39)	Y196*	probably null	Het
Agrn	C	T	4: 156,256,296 (GRCm39)	R1405H	probably benign	Het
Agtpbp1	G	A	13: 59,613,852 (GRCm39)	H1030Y	probably benign	Het
Ankrd37	C	T	8: 46,452,891 (GRCm39)		probably benign	Het
Ap1g2	G	C	14: 55,341,908 (GRCm39)	P218R	probably damaging	Het
Ap2a1	C	T	7: 44,573,228 (GRCm39)		probably null	Het
Apc2	T	A	10: 80,146,990 (GRCm39)	D681E	possibly damaging	Het
Arhgef5	T	A	6: 43,252,142 (GRCm39)	N964K	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
Ccnf	T	A	17: 24,442,889 (GRCm39)	M773L	probably benign	Het
Ces1e	A	C	8: 93,941,772 (GRCm39)	S234A	probably damaging	Het
Ctcfl	A	T	2: 172,947,770 (GRCm39)		probably null	Het
Dkk2	T	A	3: 131,791,953 (GRCm39)	S54T	probably damaging	Het
Dll1	A	G	17: 15,595,131 (GRCm39)	S49P	probably benign	Het
Dscam	C	A	16: 96,626,764 (GRCm39)	A382S	probably damaging	Het
Eif4a3l1	T	A	6: 136,306,535 (GRCm39)	I332N	probably damaging	Het
Eif5b	A	T	1: 38,088,155 (GRCm39)	M1020L	probably damaging	Het
Elp1	A	T	4: 56,796,535 (GRCm39)	S118R	probably damaging	Het
Enpp4	T	C	17: 44,412,928 (GRCm39)	D202G	probably benign	Het
Eps8	A	T	6: 137,456,072 (GRCm39)	I803N	possibly damaging	Het
Etv2	C	A	7: 30,335,074 (GRCm39)	G28V	probably damaging	Het
Fadd	A	T	7: 144,134,522 (GRCm39)	V121E	probably damaging	Het
Fam149b	T	C	14: 20,431,853 (GRCm39)	Y545H	probably benign	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Flg2	T	C	3: 93,110,140 (GRCm39)	S723P	unknown	Het
Gm4884	C	T	7: 40,693,633 (GRCm39)	T534I	possibly damaging	Het
Gpbar1	A	T	1: 74,317,792 (GRCm39)	I12F	possibly damaging	Het
Gpr151	A	T	18: 42,712,021 (GRCm39)	L219*	probably null	Het
Hdgfl2	T	A	17: 56,404,532 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,446,405 (GRCm39)	M200V	probably benign	Het
Idua	A	G	5: 108,828,761 (GRCm39)	N335S	probably benign	Het
Ifit1bl1	A	T	19: 34,571,302 (GRCm39)	F385Y	probably damaging	Het
Ift172	T	C	5: 31,411,606 (GRCm39)	D1624G	probably damaging	Het
Igsf9b	A	T	9: 27,233,964 (GRCm39)	T388S	possibly damaging	Het
Insyn2b	A	G	11: 34,369,873 (GRCm39)	K526E	probably damaging	Het
Jak2	A	G	19: 29,259,811 (GRCm39)	I237V	probably benign	Het
Kat5	C	A	19: 5,653,989 (GRCm39)	K398N	probably damaging	Het
Lmbrd2	T	A	15: 9,175,283 (GRCm39)	V398E	possibly damaging	Het
Lrp1	T	C	10: 127,392,834 (GRCm39)	N2744D	probably damaging	Het
Lrrd1	T	C	5: 3,901,459 (GRCm39)	I588T	probably damaging	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Magi1	T	A	6: 93,792,731 (GRCm39)	D169V	probably benign	Het
Mpdz	T	C	4: 81,253,988 (GRCm39)	E1048G	probably damaging	Het
Myh9	T	C	15: 77,692,110 (GRCm39)	I150V	probably benign	Het
Nckap1	A	T	2: 80,337,236 (GRCm39)	M1006K	probably benign	Het
Nkain1	C	T	4: 130,533,925 (GRCm38)	V132I	probably benign	Het
Npy6r	A	T	18: 44,409,223 (GRCm39)	M215L	probably benign	Het
Nr3c2	A	T	8: 77,635,592 (GRCm39)	Q231L	probably damaging	Het
Obox5	C	T	7: 15,491,849 (GRCm39)	P88L	probably benign	Het
Or10a48	A	G	7: 108,425,186 (GRCm39)	S7P	probably damaging	Het
Or9k7	T	C	10: 130,046,811 (GRCm39)	T63A	probably benign	Het
P2rx7	A	G	5: 122,818,883 (GRCm39)	D435G	possibly damaging	Het
Pdzd2	T	A	15: 12,376,209 (GRCm39)	S1309C	probably damaging	Het
Pex5l	C	T	3: 33,078,840 (GRCm39)		probably null	Het
Pip	T	A	6: 41,824,565 (GRCm39)	C18S	probably damaging	Het
Pla2g7	C	T	17: 43,909,967 (GRCm39)	T157M	probably damaging	Het
Plce1	A	G	19: 38,768,229 (GRCm39)	Y2168C	probably damaging	Het
Rgs2	T	C	1: 143,877,886 (GRCm39)	T137A	probably benign	Het
Rpl32	T	A	6: 115,784,768 (GRCm39)	I31F	possibly damaging	Het
Ryr2	T	C	13: 11,701,864 (GRCm39)	Y2931C	probably damaging	Het
Slc4a4	G	A	5: 89,194,095 (GRCm39)	E192K	probably damaging	Het
Slc4a7	G	A	14: 14,765,580 (GRCm38)	A521T	probably damaging	Het
Smchd1	T	C	17: 71,701,818 (GRCm39)	E1058G	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Ssc5d	A	G	7: 4,939,600 (GRCm39)	T679A	probably benign	Het
Tas2r130	A	C	6: 131,607,211 (GRCm39)	S195A	probably benign	Het
Tas2r135	C	T	6: 42,382,685 (GRCm39)	R75*	probably null	Het
Terf2ip	G	T	8: 112,738,052 (GRCm39)		probably benign	Het
Tm6sf2	G	A	8: 70,528,656 (GRCm39)	R136K	probably benign	Het
Tmprss15	A	G	16: 78,764,886 (GRCm39)	L858P	probably damaging	Het
Topaz1	A	G	9: 122,626,770 (GRCm39)	D1466G	possibly damaging	Het
Trip4	A	T	9: 65,764,627 (GRCm39)	L446Q	probably damaging	Het
Trpv3	G	T	11: 73,168,818 (GRCm39)	V93L	probably benign	Het
Ubl4b	A	T	3: 107,461,962 (GRCm39)	H99Q	probably damaging	Het
Unc45a	A	T	7: 79,979,569 (GRCm39)		probably null	Het
Vmn1r47	G	T	6: 89,999,335 (GRCm39)	A156S	probably damaging	Het
Vmn2r33	T	A	7: 7,566,896 (GRCm39)	H72L	probably benign	Het
Zeb1	G	A	18: 5,767,867 (GRCm39)	V793M	possibly damaging	Het
Zfp628	C	A	7: 4,924,063 (GRCm39)	Q762K	probably benign	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
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
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'- AGAGACTCTGGTTTGATTTCTAAGG -3'
(R):5'- CAGAGATAAGCCTGGGCATC -3'

Sequencing Primer
(F):5'- CATATGGCCAGTCAGTTGTGTCAC -3'
(R):5'- AGAGATAAGCCTGGGCATCTTTGTAC -3'

Posted On

2019-06-26