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

93746842-93774820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93771687 bp (GRCm39)

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
Abca12	T	C	1: 71,392,916 (GRCm39)	I108V	probably benign	Het
Atad2	A	G	15: 57,963,476 (GRCm39)	I723T	probably damaging	Het
Cct4	T	A	11: 22,947,656 (GRCm39)	V233E	possibly damaging	Het
Cgnl1	C	T	9: 71,563,338 (GRCm39)	R863Q	probably benign	Het
Dnaaf9	T	C	2: 130,626,377 (GRCm39)	D225G	probably benign	Het
Fam13b	T	C	18: 34,630,488 (GRCm39)	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,364,549 (GRCm39)	D232E	possibly damaging	Het
Gm6370	A	G	5: 146,430,723 (GRCm39)	T303A	probably benign	Het
Gsdmc2	A	G	15: 63,700,120 (GRCm39)		probably benign	Het
Kif13b	T	A	14: 64,982,337 (GRCm39)	N516K	probably damaging	Het
Med1	A	G	11: 98,046,510 (GRCm39)		probably benign	Het
Med4	T	C	14: 73,754,707 (GRCm39)	M190T	probably damaging	Het
Myo15b	T	C	11: 115,782,742 (GRCm39)	V1534A	possibly damaging	Het
Neb	T	C	2: 52,081,961 (GRCm39)	R1722G	probably benign	Het
Obp2b	A	T	2: 25,628,593 (GRCm39)	I116F	probably damaging	Het
Rims2	A	G	15: 39,320,070 (GRCm39)		probably null	Het
Siglecg	A	T	7: 43,061,219 (GRCm39)	I431F	probably benign	Het
Thap12	T	A	7: 98,365,344 (GRCm39)	V504D	possibly damaging	Het
Tlr7	A	C	X: 166,091,471 (GRCm39)	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 88,985,165 (GRCm39)	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 87,074,055 (GRCm39)	L101F	probably benign	Het
Xdh	A	T	17: 74,191,430 (GRCm39)	*1336R	probably null	Het

Other mutations in Ces1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Ces1a	APN	8	93,747,095 (GRCm39)	missense	probably damaging	1.00
IGL00841:Ces1a	APN	8	93,766,164 (GRCm39)	nonsense	probably null
IGL01510:Ces1a	APN	8	93,771,726 (GRCm39)	missense	probably damaging	1.00
IGL01511:Ces1a	APN	8	93,771,726 (GRCm39)	missense	probably damaging	1.00
IGL01518:Ces1a	APN	8	93,771,726 (GRCm39)	missense	probably damaging	1.00
IGL01519:Ces1a	APN	8	93,771,726 (GRCm39)	missense	probably damaging	1.00
IGL01520:Ces1a	APN	8	93,771,726 (GRCm39)	missense	probably damaging	1.00
IGL01526:Ces1a	APN	8	93,771,726 (GRCm39)	missense	probably damaging	1.00
IGL01527:Ces1a	APN	8	93,771,726 (GRCm39)	missense	probably damaging	1.00
IGL01828:Ces1a	APN	8	93,751,829 (GRCm39)	missense	probably damaging	0.96
IGL01934:Ces1a	APN	8	93,759,278 (GRCm39)	missense	probably damaging	0.99
IGL02456:Ces1a	APN	8	93,766,126 (GRCm39)	missense	possibly damaging	0.56
IGL02712:Ces1a	APN	8	93,762,668 (GRCm39)	missense	probably damaging	1.00
IGL02982:Ces1a	APN	8	93,771,603 (GRCm39)	missense	probably damaging	1.00
IGL03178:Ces1a	APN	8	93,747,517 (GRCm39)	missense	probably damaging	1.00
IGL03377:Ces1a	APN	8	93,766,116 (GRCm39)	missense	probably damaging	1.00
R0556:Ces1a	UTSW	8	93,771,740 (GRCm39)	missense	probably benign	0.01
R0613:Ces1a	UTSW	8	93,752,209 (GRCm39)	missense	probably benign	0.11
R0627:Ces1a	UTSW	8	93,768,671 (GRCm39)	missense	probably benign	0.03
R0686:Ces1a	UTSW	8	93,749,077 (GRCm39)	missense	probably damaging	1.00
R0724:Ces1a	UTSW	8	93,766,141 (GRCm39)	missense	probably damaging	0.98
R0930:Ces1a	UTSW	8	93,749,044 (GRCm39)	missense	probably benign	0.00
R1063:Ces1a	UTSW	8	93,749,044 (GRCm39)	missense	probably benign	0.00
R1215:Ces1a	UTSW	8	93,759,318 (GRCm39)	missense	probably damaging	1.00
R1381:Ces1a	UTSW	8	93,760,659 (GRCm39)	missense	probably damaging	0.98
R1417:Ces1a	UTSW	8	93,749,044 (GRCm39)	missense	probably benign	0.00
R1850:Ces1a	UTSW	8	93,753,954 (GRCm39)	missense	probably damaging	1.00
R2072:Ces1a	UTSW	8	93,774,703 (GRCm39)	missense	probably benign	0.29
R2074:Ces1a	UTSW	8	93,774,703 (GRCm39)	missense	probably benign	0.29
R2075:Ces1a	UTSW	8	93,774,703 (GRCm39)	missense	probably benign	0.29
R2114:Ces1a	UTSW	8	93,766,179 (GRCm39)	missense	possibly damaging	0.93
R2213:Ces1a	UTSW	8	93,751,853 (GRCm39)	missense	probably damaging	1.00
R2346:Ces1a	UTSW	8	93,751,947 (GRCm39)	missense	probably benign	0.07
R2347:Ces1a	UTSW	8	93,751,947 (GRCm39)	missense	probably benign	0.07
R2483:Ces1a	UTSW	8	93,753,969 (GRCm39)	missense	probably damaging	1.00
R4515:Ces1a	UTSW	8	93,747,532 (GRCm39)	missense	probably damaging	1.00
R4587:Ces1a	UTSW	8	93,751,932 (GRCm39)	missense	probably damaging	1.00
R4691:Ces1a	UTSW	8	93,759,287 (GRCm39)	missense	probably benign	0.00
R4992:Ces1a	UTSW	8	93,771,650 (GRCm39)	missense	probably benign	0.08
R5074:Ces1a	UTSW	8	93,759,303 (GRCm39)	missense	possibly damaging	0.77
R6086:Ces1a	UTSW	8	93,753,981 (GRCm39)	missense	probably benign	0.03
R7390:Ces1a	UTSW	8	93,771,469 (GRCm39)	splice site	probably null
R8926:Ces1a	UTSW	8	93,751,841 (GRCm39)	missense	probably benign	0.05
R9365:Ces1a	UTSW	8	93,774,727 (GRCm39)	missense	probably benign	0.00
R9582:Ces1a	UTSW	8	93,766,156 (GRCm39)	missense	probably benign	0.33
R9636:Ces1a	UTSW	8	93,759,263 (GRCm39)	missense	probably benign	0.17
Z1088:Ces1a	UTSW	8	93,752,235 (GRCm39)	missense	probably benign	0.02
Z1176:Ces1a	UTSW	8	93,762,713 (GRCm39)	missense	probably benign	0.45

Posted On

2012-04-20