Mutagenetix > Incidental Mutation

Incidental Mutation 'R2126:Ces4a'

229903

Institutional Source

Beutler Lab

Gene Symbol

Ces4a

Ensembl Gene

ENSMUSG00000060560

Gene Name

carboxylesterase 4A

Synonyms

Ces8

MMRRC Submission

040129-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2126 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

105858432-105876741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105864729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 69 (G69S)

Ref Sequence

ENSEMBL: ENSMUSP00000125062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161289]

AlphaFold

Q8R0W5

Predicted Effect

probably damaging
Transcript: ENSMUST00000161289
AA Change: G69S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125062
Gene: ENSMUSG00000060560
AA Change: G69S

Domain	Start	End	E-Value	Type
Pfam:COesterase	8	554	4.9e-163	PFAM
Pfam:Abhydrolase_3	143	319	2e-9	PFAM

Meta Mutation Damage Score

0.7473

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES6, encodes a secreted enzyme, and may play a role in the detoxification of drugs and xenobiotics in neural and other tissues of the body and in the cerebrospinal fluid. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature and/or biological validity of some variants have not been determined. [provided by RefSeq, Jun 2010]

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Acat3	C	T	17: 13,146,294 (GRCm39)	A230T	probably benign	Het
Acsl1	C	A	8: 46,986,663 (GRCm39)	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,660,383 (GRCm39)	I316N	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
AI429214	T	A	8: 37,461,362 (GRCm39)	V170E	probably benign	Het
Akap13	G	A	7: 75,375,052 (GRCm39)	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,483,439 (GRCm39)	Q190*	probably null	Het
Aox3	C	A	1: 58,197,375 (GRCm39)	Q574K	probably benign	Het
Apeh	A	G	9: 107,962,866 (GRCm39)	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,386,692 (GRCm39)	I151T	probably benign	Het
Arhgap28	A	G	17: 68,176,010 (GRCm39)	V363A	possibly damaging	Het
Arhgef18	A	G	8: 3,501,939 (GRCm39)	N699S	probably damaging	Het
Asnsd1	A	G	1: 53,386,476 (GRCm39)	S384P	probably benign	Het
Atl1	G	T	12: 69,978,431 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,722,702 (GRCm39)	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,160,784 (GRCm39)	N164K	probably benign	Het
Bnipl	T	A	3: 95,152,994 (GRCm39)	I162F	probably damaging	Het
Cacna1d	A	T	14: 29,845,120 (GRCm39)	L655I	probably damaging	Het
Canx	T	C	11: 50,195,185 (GRCm39)	I294M	probably damaging	Het
Casz1	T	C	4: 149,030,521 (GRCm39)	F1180S	probably damaging	Het
Cav3	T	C	6: 112,449,344 (GRCm39)	Y121H	probably benign	Het
Cd4	A	C	6: 124,847,499 (GRCm39)	S222A	probably benign	Het
Cds1	T	C	5: 101,960,416 (GRCm39)	I289T	probably benign	Het
Cep112	T	C	11: 108,399,084 (GRCm39)	F328L	probably damaging	Het
Cfap44	A	T	16: 44,230,838 (GRCm39)	D273V	probably benign	Het
Cfap91	T	C	16: 38,162,124 (GRCm39)	T6A	probably benign	Het
Clec7a	C	T	6: 129,447,918 (GRCm39)	G49D	probably benign	Het
Col22a1	G	A	15: 71,729,102 (GRCm39)	Q599*	probably null	Het
Col6a5	T	A	9: 105,822,799 (GRCm39)	H186L	unknown	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnajc10	G	A	2: 80,181,078 (GRCm39)		probably null	Het
Edem3	A	T	1: 151,670,482 (GRCm39)	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,996,585 (GRCm39)	V365I	probably damaging	Het
Fan1	T	C	7: 63,996,636 (GRCm39)	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Gaa	G	A	11: 119,161,108 (GRCm39)	W50*	probably null	Het
Gm10032	T	C	14: 67,030,227 (GRCm39)		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,752,670 (GRCm39)		probably null	Het
Gprc5b	G	T	7: 118,583,398 (GRCm39)	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,730,383 (GRCm39)	Q394*	probably null	Het
Gucd1	A	G	10: 75,347,922 (GRCm39)	S38P	probably damaging	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hmx3	G	C	7: 131,146,278 (GRCm39)	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,801,802 (GRCm39)	R337*	probably null	Het
Idua	T	A	5: 108,829,304 (GRCm39)	H368Q	possibly damaging	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,286,499 (GRCm39)		probably null	Het
Lasp1	T	A	11: 97,726,960 (GRCm39)	D227E	probably benign	Het
Lhx6	A	G	2: 35,981,336 (GRCm39)	I85T	possibly damaging	Het
Limch1	A	G	5: 67,187,103 (GRCm39)	D840G	probably damaging	Het
Loxl4	C	G	19: 42,592,402 (GRCm39)	E385D	probably damaging	Het
Lrrtm4	A	T	6: 79,998,722 (GRCm39)	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,832,483 (GRCm39)		probably null	Het
Lyg1	T	C	1: 37,989,755 (GRCm39)	Y44C	probably damaging	Het
Map1a	A	G	2: 121,129,122 (GRCm39)	I129V	probably damaging	Het
Med27	C	T	2: 29,414,442 (GRCm39)	Q150*	probably null	Het
Ms4a5	A	T	19: 11,256,732 (GRCm39)	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,364,479 (GRCm39)	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,628,422 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Niban1	A	C	1: 151,571,886 (GRCm39)	E277A	probably damaging	Het
Niban1	A	G	1: 151,584,884 (GRCm39)	I494V	possibly damaging	Het
Nrn1	A	C	13: 36,914,180 (GRCm39)	V34G	probably damaging	Het
Or4k52	A	G	2: 111,610,841 (GRCm39)	M59V	probably damaging	Het
Or4n5	A	G	14: 50,132,524 (GRCm39)	I245T	probably benign	Het
Or52b1	C	T	7: 104,978,459 (GRCm39)	W313*	probably null	Het
Or56a3	A	G	7: 104,735,822 (GRCm39)	T300A	probably damaging	Het
Or8b39	G	T	9: 37,996,572 (GRCm39)	V147L	probably benign	Het
Or8h9	T	C	2: 86,789,442 (GRCm39)	Y120C	possibly damaging	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pdia4	A	T	6: 47,773,771 (GRCm39)	V526E	probably damaging	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Pgk2	A	G	17: 40,518,400 (GRCm39)	F343L	probably damaging	Het
Piwil1	T	C	5: 128,831,160 (GRCm39)	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169 (GRCm39)	Y341N	possibly damaging	Het
Plch2	T	C	4: 155,083,456 (GRCm39)	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355 (GRCm38)	M692K	probably benign	Het
Rassf8	G	A	6: 145,760,908 (GRCm39)	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,341,027 (GRCm39)	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,496,099 (GRCm39)		probably null	Het
Rpe	T	G	1: 66,755,139 (GRCm39)	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,159,502 (GRCm39)	D36G	probably damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,189,018 (GRCm39)	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,159,330 (GRCm39)	M17L	probably benign	Het
Slit3	T	C	11: 35,579,506 (GRCm39)	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,795,815 (GRCm39)	T193M	probably benign	Het
Smtn	T	A	11: 3,480,045 (GRCm39)	H392L	probably benign	Het
St8sia3	A	G	18: 64,402,745 (GRCm39)	D128G	probably damaging	Het
Sucla2	A	T	14: 73,830,108 (GRCm39)	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,104,143 (GRCm39)	R528G	probably damaging	Het
Tex44	T	C	1: 86,354,811 (GRCm39)	L240P	probably benign	Het
Tns4	A	T	11: 98,970,904 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,039,758 (GRCm39)	V731E	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ttf2	C	A	3: 100,855,509 (GRCm39)	Q895H	possibly damaging	Het
Ttll6	A	G	11: 96,038,358 (GRCm39)	E402G	probably damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,669,195 (GRCm39)	D303G	probably damaging	Het
Ulk1	G	T	5: 110,940,302 (GRCm39)	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,293,033 (GRCm39)	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,651,264 (GRCm39)	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,494,403 (GRCm39)	F78S	probably damaging	Het
Zfp454	A	C	11: 50,764,822 (GRCm39)	S203R	probably benign	Het
Zfp616	C	A	11: 73,976,229 (GRCm39)	Q833K	probably benign	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	probably benign	Het
Zswim3	T	A	2: 164,661,913 (GRCm39)	I131N	probably benign	Het

Other mutations in Ces4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00584:Ces4a	APN	8	105,871,795 (GRCm39)	missense	probably benign	0.00
IGL01574:Ces4a	APN	8	105,871,859 (GRCm39)	splice site	probably benign
IGL01655:Ces4a	APN	8	105,873,806 (GRCm39)	missense	probably damaging	0.99
IGL03092:Ces4a	APN	8	105,874,836 (GRCm39)	splice site	probably benign
IGL03151:Ces4a	APN	8	105,874,829 (GRCm39)	critical splice donor site	probably null
F6893:Ces4a	UTSW	8	105,873,859 (GRCm39)	missense	possibly damaging	0.74
R0266:Ces4a	UTSW	8	105,868,598 (GRCm39)	missense	probably benign
R0659:Ces4a	UTSW	8	105,871,554 (GRCm39)	splice site	probably benign
R1239:Ces4a	UTSW	8	105,876,130 (GRCm39)	missense	probably damaging	1.00
R1467:Ces4a	UTSW	8	105,864,667 (GRCm39)	missense	possibly damaging	0.56
R1467:Ces4a	UTSW	8	105,864,667 (GRCm39)	missense	possibly damaging	0.56
R1505:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1509:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1598:Ces4a	UTSW	8	105,869,453 (GRCm39)	missense	probably damaging	1.00
R1734:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1736:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1737:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1738:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1744:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1789:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1951:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R1953:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R2129:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R2202:Ces4a	UTSW	8	105,872,746 (GRCm39)	missense	probably damaging	1.00
R4512:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R4865:Ces4a	UTSW	8	105,873,790 (GRCm39)	missense	probably benign	0.05
R4934:Ces4a	UTSW	8	105,864,613 (GRCm39)	missense	probably benign	0.30
R4936:Ces4a	UTSW	8	105,864,729 (GRCm39)	missense	probably damaging	1.00
R5255:Ces4a	UTSW	8	105,869,121 (GRCm39)	missense	probably benign	0.00
R5342:Ces4a	UTSW	8	105,872,775 (GRCm39)	missense	probably benign	0.07
R5647:Ces4a	UTSW	8	105,872,712 (GRCm39)	missense	probably benign	0.10
R6062:Ces4a	UTSW	8	105,864,806 (GRCm39)	critical splice donor site	probably null
R6490:Ces4a	UTSW	8	105,876,090 (GRCm39)	missense	probably benign	0.09
R6606:Ces4a	UTSW	8	105,876,010 (GRCm39)	missense	possibly damaging	0.95
R6876:Ces4a	UTSW	8	105,871,624 (GRCm39)	missense	possibly damaging	0.56
R6901:Ces4a	UTSW	8	105,873,330 (GRCm39)	missense	probably benign
R7519:Ces4a	UTSW	8	105,871,851 (GRCm39)	missense	probably damaging	1.00
R7682:Ces4a	UTSW	8	105,873,297 (GRCm39)	missense	probably benign	0.00
R8171:Ces4a	UTSW	8	105,873,839 (GRCm39)	missense	probably damaging	1.00
R8329:Ces4a	UTSW	8	105,874,714 (GRCm39)	missense	probably damaging	1.00
R8833:Ces4a	UTSW	8	105,858,614 (GRCm39)	missense	probably benign	0.00
R9168:Ces4a	UTSW	8	105,876,050 (GRCm39)	missense	probably benign	0.00
R9557:Ces4a	UTSW	8	105,869,527 (GRCm39)	missense	possibly damaging	0.92
R9758:Ces4a	UTSW	8	105,869,054 (GRCm39)	missense	possibly damaging	0.50
Z1176:Ces4a	UTSW	8	105,858,609 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCAGATGTACCAGAATCCC -3'
(R):5'- GCCAAGAATAGGTTCCAGGTTTG -3'

Sequencing Primer
(F):5'- TCCCATCCATGGTTGAGAAGC -3'
(R):5'- CCAGGTTTGCTATAGTCACAGG -3'

Posted On

2014-09-17