Mutagenetix > Incidental Mutation

Incidental Mutation 'R9636:Ces1a'

725797

Institutional Source

Beutler Lab

Gene Symbol

Ces1a

Ensembl Gene

ENSMUSG00000071047

Gene Name

carboxylesterase 1A

Synonyms

Gm4976

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9636 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93746842-93774820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93759263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 291 (E291G)

Ref Sequence

ENSEMBL: ENSMUSP00000092836 (fasta)

Gene Model

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

AlphaFold

E9PYP1

Predicted Effect

probably benign
Transcript: ENSMUST00000095211
AA Change: E291G

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: E291G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,068,312 (GRCm39)	I48M	probably benign	Het
Arnt2	T	G	7: 83,993,042 (GRCm39)	E177A	probably benign	Het
Atad3a	T	C	4: 155,833,616 (GRCm39)	T421A	possibly damaging	Het
Cdh6	A	G	15: 13,057,655 (GRCm39)	L222P	probably benign	Het
Celf3	A	G	3: 94,394,580 (GRCm39)	H304R	possibly damaging	Het
Dicer1	C	T	12: 104,688,406 (GRCm39)	W390*	probably null	Het
Fsip2	A	T	2: 82,820,563 (GRCm39)	Q5432L	possibly damaging	Het
Gm12830	T	C	4: 114,698,859 (GRCm39)	S73P		Het
Hyal5	A	G	6: 24,876,656 (GRCm39)	I176M	possibly damaging	Het
Ifna7	T	C	4: 88,734,733 (GRCm39)	I90T	possibly damaging	Het
Klhl3	T	C	13: 58,198,863 (GRCm39)	T259A	probably damaging	Het
Kpna3	A	G	14: 61,624,903 (GRCm39)	S147P	probably damaging	Het
Lama4	A	G	10: 38,956,500 (GRCm39)	D1141G	possibly damaging	Het
Letm2	T	C	8: 26,083,719 (GRCm39)	I171V	probably benign	Het
Nfatc1	T	A	18: 80,706,611 (GRCm39)	Q602L	possibly damaging	Het
Or13c7	T	A	4: 43,854,898 (GRCm39)	N196K	probably damaging	Het
Or4k45	A	T	2: 111,395,786 (GRCm39)	M1K	probably null	Het
Ppp4r4	T	C	12: 103,564,688 (GRCm39)	V18A	unknown	Het
Prkdc	G	A	16: 15,548,341 (GRCm39)	R1983H	probably benign	Het
Ptprz1	A	G	6: 22,999,994 (GRCm39)	R695G	probably benign	Het
Rbbp6	AAAGAAGAAGAAGAAGAAG	AAAGAAGAAGAAGAAG	7: 122,601,175 (GRCm39)		probably benign	Het
Riok1	T	C	13: 38,242,719 (GRCm39)		probably null	Het
Rnf180	T	A	13: 105,386,819 (GRCm39)	H164L	possibly damaging	Het
Slc2a3	A	G	6: 122,709,362 (GRCm39)	S346P	probably damaging	Het
Slit3	A	T	11: 35,594,088 (GRCm39)	D1426V	probably damaging	Het
Try10	A	G	6: 41,332,505 (GRCm39)	N54D	probably benign	Het
Vmn2r71	T	C	7: 85,268,388 (GRCm39)	V197A	possibly damaging	Het
Wdfy3	C	A	5: 102,047,899 (GRCm39)	R1802L	probably benign	Het
Zfyve16	T	C	13: 92,631,456 (GRCm39)	R1380G	probably benign	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
IGL00556:Ces1a	APN	8	93,771,687 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- ACCACTGTTTTGGGAACTCTGG -3'
(R):5'- CCAGAACTGGGCTTGAGATAG -3'

Sequencing Primer
(F):5'- GGAACTCTGGGATATTGTTATGC -3'
(R):5'- AACTGGGCTTGAGATAGCATCCC -3'

Posted On

2022-09-12