Mutagenetix > Incidental Mutation

Incidental Mutation 'R9361:Ces1g'

708699

Institutional Source

Beutler Lab

Gene Symbol

Ces1g

Ensembl Gene

ENSMUSG00000057074

Gene Name

carboxylesterase 1G

Synonyms

Ses-1, Ces-1, Ces1

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94028997-94063837 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 94061646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037555 (fasta)

Gene Model

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

AlphaFold

Q8VCC2

Predicted Effect

probably null
Transcript: ENSMUST00000044602

SMART Domains

Protein: ENSMUSP00000037555
Gene: ENSMUSG00000057074

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: 98.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	C	T	8: 121,361,060 (GRCm39)	A12T	unknown	Het
Aasdh	T	A	5: 77,030,225 (GRCm39)	T792S	probably benign	Het
Actl11	T	A	9: 107,805,824 (GRCm39)	L49Q	probably damaging	Het
Adcy3	G	T	12: 4,259,366 (GRCm39)	R881L	possibly damaging	Het
Alox15	T	G	11: 70,241,679 (GRCm39)	K67N	probably damaging	Het
Amotl1	C	T	9: 14,504,677 (GRCm39)	R177Q	probably benign	Het
Ankrd34c	T	A	9: 89,612,183 (GRCm39)	I53F	probably damaging	Het
Atp8b5	T	A	4: 43,369,658 (GRCm39)	F932Y	possibly damaging	Het
Bckdk	A	G	7: 127,506,515 (GRCm39)	M281V	probably benign	Het
Ccdc33	C	T	9: 58,024,908 (GRCm39)	C106Y	possibly damaging	Het
Celsr3	T	A	9: 108,726,521 (GRCm39)	I3250N	probably damaging	Het
Ces2b	G	A	8: 105,564,039 (GRCm39)		probably null	Het
Clspn	A	T	4: 126,479,654 (GRCm39)	D1033V	probably damaging	Het
Cntln	G	T	4: 84,968,151 (GRCm39)	R790I	probably benign	Het
Cspg4	T	C	9: 56,803,877 (GRCm39)	V1656A	probably damaging	Het
Dennd2b	A	G	7: 109,126,991 (GRCm39)	S907P	probably damaging	Het
Dlgap1	A	T	17: 71,068,259 (GRCm39)	D610V	probably damaging	Het
Efcab3	C	T	11: 104,896,524 (GRCm39)	T4291I	probably benign	Het
Eya4	C	A	10: 22,985,766 (GRCm39)	G579W	probably damaging	Het
Fam83b	T	C	9: 76,400,076 (GRCm39)	I342M	probably benign	Het
Fhdc1	A	C	3: 84,356,140 (GRCm39)	C435G	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Fras1	T	G	5: 96,924,557 (GRCm39)	L3666R	probably damaging	Het
Gm21560	T	A	14: 6,218,262 (GRCm38)	H72L	possibly damaging	Het
Gtsf2	C	T	15: 103,348,066 (GRCm39)	W148*	probably null	Het
Gucy2c	T	C	6: 136,714,429 (GRCm39)	K466E	possibly damaging	Het
Higd2a	T	A	13: 54,738,120 (GRCm39)	D14E	probably benign	Het
Hlcs	C	T	16: 93,939,799 (GRCm39)	V513M	probably benign	Het
Ido1	T	C	8: 25,079,601 (GRCm39)	T148A	probably benign	Het
Ighv1-5	T	A	12: 114,476,985 (GRCm39)	T106S	probably damaging	Het
Igkv4-92	T	C	6: 68,732,090 (GRCm39)	T95A	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Larp4b	T	G	13: 9,199,937 (GRCm39)	F278V	probably damaging	Het
Lrch4	G	A	5: 137,635,076 (GRCm39)	R225H	probably damaging	Het
Mapkbp1	T	C	2: 119,845,252 (GRCm39)	Y378H	probably benign	Het
Nme9	T	A	9: 99,341,775 (GRCm39)	C42S	probably damaging	Het
Or2y10	A	G	11: 49,455,303 (GRCm39)	K185R	probably damaging	Het
Pdlim2	T	G	14: 70,402,190 (GRCm39)	T309P	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prodh	C	T	16: 17,898,834 (GRCm39)	C207Y	probably benign	Het
Prom1	A	T	5: 44,213,229 (GRCm39)	L168Q	probably damaging	Het
Resf1	T	G	6: 149,228,132 (GRCm39)	S393A	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Shkbp1	T	C	7: 27,051,492 (GRCm39)	Q189R	probably benign	Het
Skint4	T	C	4: 112,001,021 (GRCm39)	L372S	probably damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Specc1	A	T	11: 62,037,144 (GRCm39)	E699D	probably benign	Het
Speer1m	C	T	5: 11,970,646 (GRCm39)	T105M		Het
Syt6	C	A	3: 103,482,679 (GRCm39)		probably benign	Het
Tent5b	G	T	4: 133,213,461 (GRCm39)	A111S	probably damaging	Het
Tg	A	G	15: 66,557,246 (GRCm39)	E969G	possibly damaging	Het
Tie1	A	C	4: 118,336,829 (GRCm39)	H632Q	probably benign	Het
Trappc12	A	G	12: 28,796,417 (GRCm39)	W372R	probably damaging	Het
Trav7d-4	T	C	14: 53,007,606 (GRCm39)	V33A	probably damaging	Het
Ugdh	A	T	5: 65,575,886 (GRCm39)	N324K	probably damaging	Het
Vmn2r79	G	T	7: 86,652,822 (GRCm39)		probably null	Het
Washc2	T	C	6: 116,239,433 (GRCm39)	*1335Q	probably null	Het
Yme1l1	C	T	2: 23,081,063 (GRCm39)	T445I	possibly damaging	Het
Zdhhc11	T	C	13: 74,122,737 (GRCm39)	C158R	probably damaging	Het
Zfp128	T	C	7: 12,624,364 (GRCm39)	L244P	probably damaging	Het
Zfp445	T	A	9: 122,690,887 (GRCm39)	I103F	probably damaging	Het
Zfp980	A	T	4: 145,427,999 (GRCm39)	T243S	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
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
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'- TGAGCAAAAGTCATTTAAGACCCAC -3'
(R):5'- TTCATGGCAAAGTCCTGGGG -3'

Sequencing Primer
(F):5'- TGATGCCCACTTGGTGAAAC -3'
(R):5'- AGTCCTGGGGAAGTATGTCACC -3'

Posted On

2022-04-18