Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00556:Ces1a'

4988

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces1a

Ensembl Gene

ENSMUSG00000071047

Gene Name

carboxylesterase 1A

Synonyms

Gm4976

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

93020214-93048192 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93045059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 37 (Y37H)

Ref Sequence

ENSEMBL: ENSMUSP00000092836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095211]

AlphaFold

E9PYP1

Predicted Effect

probably benign
Transcript: ENSMUST00000095211
AA Change: Y37H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: Y37H

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	5.7e-169	PFAM
Pfam:Abhydrolase_3	136	286	8.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210764

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,784,457 (GRCm38)	D225G	probably benign	Het
Abca12	T	C	1: 71,353,757 (GRCm38)	I108V	probably benign	Het
Atad2	A	G	15: 58,100,080 (GRCm38)	I723T	probably damaging	Het
Cct4	T	A	11: 22,997,656 (GRCm38)	V233E	possibly damaging	Het
Cgnl1	C	T	9: 71,656,056 (GRCm38)	R863Q	probably benign	Het
Fam13b	T	C	18: 34,497,435 (GRCm38)	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,457,242 (GRCm38)	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,493,913 (GRCm38)	T303A	probably benign	Het
Gsdmc2	A	G	15: 63,828,271 (GRCm38)		probably benign	Het
Kif13b	T	A	14: 64,744,888 (GRCm38)	N516K	probably damaging	Het
Med1	A	G	11: 98,155,684 (GRCm38)		probably benign	Het
Med4	T	C	14: 73,517,267 (GRCm38)	M190T	probably damaging	Het
Myo15b	T	C	11: 115,891,916 (GRCm38)	V1534A	possibly damaging	Het
Neb	T	C	2: 52,191,949 (GRCm38)	R1722G	probably benign	Het
Obp2b	A	T	2: 25,738,581 (GRCm38)	I116F	probably damaging	Het
Rims2	A	G	15: 39,456,674 (GRCm38)		probably null	Het
Siglecg	A	T	7: 43,411,795 (GRCm38)	I431F	probably benign	Het
Thap12	T	A	7: 98,716,137 (GRCm38)	V504D	possibly damaging	Het
Tlr7	A	C	X: 167,308,475 (GRCm38)	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 89,100,962 (GRCm38)	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 86,926,196 (GRCm38)	L101F	probably benign	Het
Xdh	A	T	17: 73,884,435 (GRCm38)	*1336R	probably null	Het

Other mutations in Ces1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Ces1a	APN	8	93,020,467 (GRCm38)	missense	probably damaging	1.00
IGL00841:Ces1a	APN	8	93,039,536 (GRCm38)	nonsense	probably null
IGL01510:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01511:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01518:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01519:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01520:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01526:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01527:Ces1a	APN	8	93,045,098 (GRCm38)	missense	probably damaging	1.00
IGL01828:Ces1a	APN	8	93,025,201 (GRCm38)	missense	probably damaging	0.96
IGL01934:Ces1a	APN	8	93,032,650 (GRCm38)	missense	probably damaging	0.99
IGL02456:Ces1a	APN	8	93,039,498 (GRCm38)	missense	possibly damaging	0.56
IGL02712:Ces1a	APN	8	93,036,040 (GRCm38)	missense	probably damaging	1.00
IGL02982:Ces1a	APN	8	93,044,975 (GRCm38)	missense	probably damaging	1.00
IGL03178:Ces1a	APN	8	93,020,889 (GRCm38)	missense	probably damaging	1.00
IGL03377:Ces1a	APN	8	93,039,488 (GRCm38)	missense	probably damaging	1.00
R0556:Ces1a	UTSW	8	93,045,112 (GRCm38)	missense	probably benign	0.01
R0613:Ces1a	UTSW	8	93,025,581 (GRCm38)	missense	probably benign	0.11
R0627:Ces1a	UTSW	8	93,042,043 (GRCm38)	missense	probably benign	0.03
R0686:Ces1a	UTSW	8	93,022,449 (GRCm38)	missense	probably damaging	1.00
R0724:Ces1a	UTSW	8	93,039,513 (GRCm38)	missense	probably damaging	0.98
R0930:Ces1a	UTSW	8	93,022,416 (GRCm38)	missense	probably benign	0.00
R1063:Ces1a	UTSW	8	93,022,416 (GRCm38)	missense	probably benign	0.00
R1215:Ces1a	UTSW	8	93,032,690 (GRCm38)	missense	probably damaging	1.00
R1381:Ces1a	UTSW	8	93,034,031 (GRCm38)	missense	probably damaging	0.98
R1417:Ces1a	UTSW	8	93,022,416 (GRCm38)	missense	probably benign	0.00
R1850:Ces1a	UTSW	8	93,027,326 (GRCm38)	missense	probably damaging	1.00
R2072:Ces1a	UTSW	8	93,048,075 (GRCm38)	missense	probably benign	0.29
R2074:Ces1a	UTSW	8	93,048,075 (GRCm38)	missense	probably benign	0.29
R2075:Ces1a	UTSW	8	93,048,075 (GRCm38)	missense	probably benign	0.29
R2114:Ces1a	UTSW	8	93,039,551 (GRCm38)	missense	possibly damaging	0.93
R2213:Ces1a	UTSW	8	93,025,225 (GRCm38)	missense	probably damaging	1.00
R2346:Ces1a	UTSW	8	93,025,319 (GRCm38)	missense	probably benign	0.07
R2347:Ces1a	UTSW	8	93,025,319 (GRCm38)	missense	probably benign	0.07
R2483:Ces1a	UTSW	8	93,027,341 (GRCm38)	missense	probably damaging	1.00
R4515:Ces1a	UTSW	8	93,020,904 (GRCm38)	missense	probably damaging	1.00
R4587:Ces1a	UTSW	8	93,025,304 (GRCm38)	missense	probably damaging	1.00
R4691:Ces1a	UTSW	8	93,032,659 (GRCm38)	missense	probably benign	0.00
R4992:Ces1a	UTSW	8	93,045,022 (GRCm38)	missense	probably benign	0.08
R5074:Ces1a	UTSW	8	93,032,675 (GRCm38)	missense	possibly damaging	0.77
R6086:Ces1a	UTSW	8	93,027,353 (GRCm38)	missense	probably benign	0.03
R7390:Ces1a	UTSW	8	93,044,841 (GRCm38)	splice site	probably null
R8926:Ces1a	UTSW	8	93,025,213 (GRCm38)	missense	probably benign	0.05
R9365:Ces1a	UTSW	8	93,048,099 (GRCm38)	missense	probably benign	0.00
R9582:Ces1a	UTSW	8	93,039,528 (GRCm38)	missense	probably benign	0.33
R9636:Ces1a	UTSW	8	93,032,635 (GRCm38)	missense	probably benign	0.17
Z1088:Ces1a	UTSW	8	93,025,607 (GRCm38)	missense	probably benign	0.02
Z1176:Ces1a	UTSW	8	93,036,085 (GRCm38)	missense	probably benign	0.45

Posted On

2012-04-20