Mutagenetix > Incidental Mutation

Incidental Mutation 'R4719:Ces1g'

354307

Institutional Source

Beutler Lab

Gene Symbol

Ces1g

Ensembl Gene

ENSMUSG00000057074

Gene Name

carboxylesterase 1G

Synonyms

Ses-1, Ces-1, Ces1

MMRRC Submission

041957-MU

Accession Numbers

Essential gene?

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

Stock #

R4719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94028997-94063837 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94043718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 407 (D407G)

Ref Sequence

ENSEMBL: ENSMUSP00000037555 (fasta)

Gene Model

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

AlphaFold

Q8VCC2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044602
AA Change: D407G

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000037555
Gene: ENSMUSG00000057074
AA Change: D407G

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

99% (76/77)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,089,971 (GRCm39)	Y971C	probably damaging	Het
Actr5	T	A	2: 158,468,433 (GRCm39)	S188T	probably damaging	Het
Adamtsl4	A	G	3: 95,586,896 (GRCm39)		probably null	Het
Agbl2	A	G	2: 90,645,733 (GRCm39)	N822S	probably benign	Het
Ankdd1b	T	A	13: 96,554,255 (GRCm39)		probably benign	Het
Arhgef40	C	T	14: 52,242,395 (GRCm39)		probably benign	Het
Art5	A	G	7: 101,747,701 (GRCm39)		probably null	Het
Atpsckmt	T	G	15: 31,608,243 (GRCm39)	V98G	probably damaging	Het
Cacna1s	T	C	1: 136,046,390 (GRCm39)		probably benign	Het
Car9	G	A	4: 43,508,616 (GRCm39)	W42*	probably null	Het
Cdh20	T	C	1: 104,862,035 (GRCm39)	Y72H	probably damaging	Het
Cngb3	T	A	4: 19,309,562 (GRCm39)	D73E	probably benign	Het
Col6a4	A	T	9: 105,945,451 (GRCm39)	F888I	probably damaging	Het
Dgat2	T	C	7: 98,807,504 (GRCm39)	D222G	probably benign	Het
Dscaml1	T	C	9: 45,583,993 (GRCm39)	M486T	probably benign	Het
Faim2	C	T	15: 99,425,460 (GRCm39)		probably null	Het
Fance	T	C	17: 28,537,293 (GRCm39)		probably benign	Het
Fancm	G	T	12: 65,168,480 (GRCm39)	M1614I	possibly damaging	Het
Fcrl5	A	T	3: 87,351,496 (GRCm39)	N248I	probably damaging	Het
Foxo3	G	A	10: 42,073,774 (GRCm39)	R29W	probably damaging	Het
Gabbr2	A	G	4: 46,718,797 (GRCm39)	Y74H	probably damaging	Het
Gatd1	A	C	7: 140,990,981 (GRCm39)	D55E	probably benign	Het
Gpr152	C	A	19: 4,193,223 (GRCm39)	Q255K	possibly damaging	Het
Havcr1	A	G	11: 46,643,268 (GRCm39)	T63A	probably benign	Het
Hltf	T	C	3: 20,118,865 (GRCm39)		probably null	Het
Ifit3b	A	T	19: 34,590,030 (GRCm39)	Q402L	probably damaging	Het
Ints3	A	G	3: 90,322,828 (GRCm39)	L134S	probably benign	Het
Kcna10	A	G	3: 107,102,217 (GRCm39)	T283A	probably benign	Het
Kmt2e	A	C	5: 23,697,313 (GRCm39)	R590S	probably damaging	Het
Lefty1	A	T	1: 180,765,277 (GRCm39)	N282Y	probably benign	Het
Loxl4	T	A	19: 42,596,030 (GRCm39)	Y141F	probably benign	Het
Lrrn2	T	C	1: 132,866,915 (GRCm39)	V660A	probably benign	Het
Lyst	T	C	13: 13,824,935 (GRCm39)	S1517P	probably benign	Het
Mcoln2	A	G	3: 145,881,468 (GRCm39)	H208R	probably benign	Het
Mdga2	C	T	12: 66,517,775 (GRCm39)		probably benign	Het
Mpp2	T	A	11: 101,955,259 (GRCm39)	E122V	possibly damaging	Het
Mrgprb5	T	C	7: 47,818,526 (GRCm39)	N70D	probably damaging	Het
Muc5ac	A	T	7: 141,343,500 (GRCm39)	E37D	possibly damaging	Het
Nbeal1	T	A	1: 60,274,722 (GRCm39)		probably null	Het
Ncoa6	T	C	2: 155,233,081 (GRCm39)		probably benign	Het
Nfib	C	A	4: 82,422,967 (GRCm39)		probably null	Het
Nostrin	G	T	2: 68,975,156 (GRCm39)	G24*	probably null	Het
Nudc	A	G	4: 133,260,576 (GRCm39)	Y293H	probably damaging	Het
Or51a42	T	A	7: 103,707,940 (GRCm39)	N290Y	probably damaging	Het
Pcmtd1	T	A	1: 7,225,325 (GRCm39)	Y41*	probably null	Het
Pigt	T	C	2: 164,343,544 (GRCm39)	L340P	probably damaging	Het
Pomgnt1	T	C	4: 116,012,972 (GRCm39)	Y420H	probably damaging	Het
Pramel6	C	T	2: 87,341,096 (GRCm39)	T476I	probably benign	Het
Ptprn2	T	A	12: 116,788,016 (GRCm39)	H118Q	possibly damaging	Het
Rasl10a	G	A	11: 5,008,517 (GRCm39)	S71N	probably benign	Het
Rnf213	A	G	11: 119,310,893 (GRCm39)	I804V	probably benign	Het
Rps4l-ps	T	C	7: 114,526,537 (GRCm39)		noncoding transcript	Het
Sash1	T	A	10: 8,605,477 (GRCm39)	H971L	probably benign	Het
Secisbp2	T	A	13: 51,806,768 (GRCm39)	F54L	possibly damaging	Het
Senp1	A	T	15: 97,954,731 (GRCm39)	H484Q	probably benign	Het
Slc12a1	T	C	2: 124,995,913 (GRCm39)	I22T	possibly damaging	Het
Slc25a36	A	G	9: 96,972,172 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,140,731 (GRCm39)	S1443T	probably benign	Het
Sv2c	T	C	13: 96,123,319 (GRCm39)	T385A	probably benign	Het
Tas2r131	T	A	6: 132,933,936 (GRCm39)	H291L	probably damaging	Het
Thbs3	A	G	3: 89,124,147 (GRCm39)	D80G	probably damaging	Het
Tnxb	C	T	17: 34,908,394 (GRCm39)	S1349L	probably damaging	Het
Toporsl	A	G	4: 52,611,996 (GRCm39)	R630G	probably benign	Het
Vmn1r43	C	A	6: 89,846,837 (GRCm39)	M216I	probably benign	Het
Wdr17	T	A	8: 55,092,911 (GRCm39)	E1068D	probably benign	Het
Wnt10a	G	A	1: 74,842,762 (GRCm39)	V413I	probably damaging	Het
Zfp141	T	C	7: 42,126,111 (GRCm39)		probably null	Het
Zfp169	T	C	13: 48,643,634 (GRCm39)	I498V	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
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

Predicted Primers

PCR Primer
(F):5'- AACATTATAGGCCATAGGGAGCC -3'
(R):5'- TTCCATTCACTGCCCAAACTAG -3'

Sequencing Primer
(F):5'- GGCCTTTAAGACCTGACCCTCAG -3'
(R):5'- TGCCCAAACTAGAAGAATTTGGC -3'

Posted On

2015-10-21