Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01828:Ces1a'

154705

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 #

IGL01828

Quality Score

Status

Chromosome

Chromosomal Location

93020214-93048192 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93025201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 435 (H435R)

Ref Sequence

ENSEMBL: ENSMUSP00000092836 (fasta)

Gene Model

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

AlphaFold

E9PYP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000095211
AA Change: H435R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: H435R

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: ENSMUST00000210735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210764

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,287,695	I1151V	probably benign	Het
Abcc4	C	T	14: 118,553,279		probably benign	Het
Asxl3	T	A	18: 22,525,558		probably benign	Het
Car4	C	A	11: 84,964,745	Q198K	probably benign	Het
Chdh	T	A	14: 30,036,608	F503L	probably damaging	Het
Dennd4a	C	T	9: 64,842,561	R145*	probably null	Het
Dse	T	A	10: 34,152,776	T773S	probably damaging	Het
Fbxw11	T	A	11: 32,720,505	L123H	probably damaging	Het
Gigyf2	A	G	1: 87,419,098	D550G	probably damaging	Het
Krcc1	T	A	6: 71,284,367	Y128N	probably damaging	Het
Myh8	T	C	11: 67,303,826	M1621T	possibly damaging	Het
Notch2	T	A	3: 98,072,613	C148S	probably damaging	Het
Plcg2	C	A	8: 117,590,233	H616Q	probably damaging	Het
Plec	T	C	15: 76,183,755	E1218G	probably damaging	Het
Plekhm2	T	C	4: 141,629,585	E749G	probably benign	Het
RP24-77E13.10	T	C	7: 7,231,323		probably null	Het
Slco1a6	C	T	6: 142,096,411	V480M	probably damaging	Het
Vmn1r88	C	T	7: 13,177,735	T6I	probably damaging	Het
Vmn2r14	A	G	5: 109,224,577	F16L	possibly damaging	Het
Ywhab	G	A	2: 164,011,774	R57H	possibly damaging	Het

Other mutations in Ces1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Ces1a	APN	8	93020467	missense	probably damaging	1.00
IGL00556:Ces1a	APN	8	93045059	missense	probably benign	0.03
IGL00841:Ces1a	APN	8	93039536	nonsense	probably null
IGL01510:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01511:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01518:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01519:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01520:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01526:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01527:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01934:Ces1a	APN	8	93032650	missense	probably damaging	0.99
IGL02456:Ces1a	APN	8	93039498	missense	possibly damaging	0.56
IGL02712:Ces1a	APN	8	93036040	missense	probably damaging	1.00
IGL02982:Ces1a	APN	8	93044975	missense	probably damaging	1.00
IGL03178:Ces1a	APN	8	93020889	missense	probably damaging	1.00
IGL03377:Ces1a	APN	8	93039488	missense	probably damaging	1.00
R0556:Ces1a	UTSW	8	93045112	missense	probably benign	0.01
R0613:Ces1a	UTSW	8	93025581	missense	probably benign	0.11
R0627:Ces1a	UTSW	8	93042043	missense	probably benign	0.03
R0686:Ces1a	UTSW	8	93022449	missense	probably damaging	1.00
R0724:Ces1a	UTSW	8	93039513	missense	probably damaging	0.98
R0930:Ces1a	UTSW	8	93022416	missense	probably benign	0.00
R1063:Ces1a	UTSW	8	93022416	missense	probably benign	0.00
R1215:Ces1a	UTSW	8	93032690	missense	probably damaging	1.00
R1381:Ces1a	UTSW	8	93034031	missense	probably damaging	0.98
R1417:Ces1a	UTSW	8	93022416	missense	probably benign	0.00
R1850:Ces1a	UTSW	8	93027326	missense	probably damaging	1.00
R2072:Ces1a	UTSW	8	93048075	missense	probably benign	0.29
R2074:Ces1a	UTSW	8	93048075	missense	probably benign	0.29
R2075:Ces1a	UTSW	8	93048075	missense	probably benign	0.29
R2114:Ces1a	UTSW	8	93039551	missense	possibly damaging	0.93
R2213:Ces1a	UTSW	8	93025225	missense	probably damaging	1.00
R2346:Ces1a	UTSW	8	93025319	missense	probably benign	0.07
R2347:Ces1a	UTSW	8	93025319	missense	probably benign	0.07
R2483:Ces1a	UTSW	8	93027341	missense	probably damaging	1.00
R4515:Ces1a	UTSW	8	93020904	missense	probably damaging	1.00
R4587:Ces1a	UTSW	8	93025304	missense	probably damaging	1.00
R4691:Ces1a	UTSW	8	93032659	missense	probably benign	0.00
R4992:Ces1a	UTSW	8	93045022	missense	probably benign	0.08
R5074:Ces1a	UTSW	8	93032675	missense	possibly damaging	0.77
R6086:Ces1a	UTSW	8	93027353	missense	probably benign	0.03
R7390:Ces1a	UTSW	8	93044841	splice site	probably null
R8926:Ces1a	UTSW	8	93025213	missense	probably benign	0.05
R9365:Ces1a	UTSW	8	93048099	missense	probably benign	0.00
R9582:Ces1a	UTSW	8	93039528	missense	probably benign	0.33
R9636:Ces1a	UTSW	8	93032635	missense	probably benign	0.17
Z1088:Ces1a	UTSW	8	93025607	missense	probably benign	0.02
Z1176:Ces1a	UTSW	8	93036085	missense	probably benign	0.45

Posted On

2014-02-04