Mutagenetix > Incidental Mutation

Incidental Mutation 'R1340:Ces3a'

157004

Institutional Source

Beutler Lab

Gene Symbol

Ces3a

Ensembl Gene

ENSMUSG00000069922

Gene Name

carboxylesterase 3A

Synonyms

Es-male carboxylesterase, Es31

MMRRC Submission

039405-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1340 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105775233-105785045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105784545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 462 (P462L)

Ref Sequence

ENSEMBL: ENSMUSP00000090911 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093222] [ENSMUST00000093223]

AlphaFold

Q63880

Predicted Effect

probably damaging
Transcript: ENSMUST00000093222
AA Change: P509L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: P509L

Domain	Start	End	E-Value	Type
Pfam:COesterase	16	547	1.1e-163	PFAM
Pfam:Abhydrolase_3	147	305	5.2e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000093223
AA Change: P462L

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

SMART Domains

Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: P462L

Domain	Start	End	E-Value	Type
Pfam:COesterase	16	320	1.4e-111	PFAM
Pfam:Abhydrolase_3	147	319	4.8e-14	PFAM
Pfam:COesterase	312	500	1.2e-28	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212481

Meta Mutation Damage Score

0.8540

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.4%
20x: 89.9%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,628,581 (GRCm39)		probably benign	Het
Acat3	C	T	17: 13,148,564 (GRCm39)		probably benign	Het
Actn1	T	C	12: 80,219,918 (GRCm39)		probably null	Het
Adam8	G	A	7: 139,571,290 (GRCm39)	S38F	probably damaging	Het
Aldh9a1	T	G	1: 167,184,913 (GRCm39)	I275S	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Alms1	G	A	6: 85,644,939 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,113,695 (GRCm39)	N1289S	probably benign	Het
Cacna1d	A	G	14: 29,794,024 (GRCm39)	V1539A	probably damaging	Het
Cacna1e	A	G	1: 154,348,403 (GRCm39)	L724P	probably damaging	Het
Ccdc110	A	G	8: 46,395,218 (GRCm39)	T370A	probably benign	Het
Ccdc9	G	A	7: 16,009,315 (GRCm39)		probably benign	Het
Cep120	A	T	18: 53,857,463 (GRCm39)	V334E	probably damaging	Het
Cgref1	A	G	5: 31,102,690 (GRCm39)		probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Csrnp3	T	A	2: 65,832,740 (GRCm39)	F81Y	probably damaging	Het
Ddr2	T	C	1: 169,825,653 (GRCm39)	T316A	probably benign	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Epb41l5	A	T	1: 119,476,861 (GRCm39)	*740R	probably null	Het
Gfpt2	A	G	11: 49,723,688 (GRCm39)	K559E	probably damaging	Het
Gm2381	A	G	7: 42,469,828 (GRCm39)	Y99H	possibly damaging	Het
Gsdma2	T	C	11: 98,548,475 (GRCm39)	V242A	probably damaging	Het
Lrp1b	T	C	2: 40,592,806 (GRCm39)	N3771S	probably benign	Het
Lrriq4	A	C	3: 30,704,472 (GRCm39)	T167P	possibly damaging	Het
Mtarc2	T	C	1: 184,554,744 (GRCm39)	T254A	probably benign	Het
Naip2	G	A	13: 100,325,630 (GRCm39)	L93F	possibly damaging	Het
Nefh	G	GNNNNNNNNNNNNNNNNNN	11: 4,891,002 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,160,836 (GRCm39)	S321P	probably damaging	Het
Nt5c1b	T	C	12: 10,427,276 (GRCm39)	V342A	probably damaging	Het
Nt5c3	A	G	6: 56,860,018 (GRCm39)	M273T	probably benign	Het
Or12j2	A	G	7: 139,916,038 (GRCm39)	T88A	probably benign	Het
Or1l4b	T	G	2: 37,036,769 (GRCm39)	L182V	probably benign	Het
Or6b1	G	A	6: 42,814,943 (GRCm39)	V43M	probably benign	Het
Polr3f	A	G	2: 144,380,548 (GRCm39)	H297R	probably benign	Het
Ptgs2	T	G	1: 149,981,228 (GRCm39)	F504V	probably damaging	Het
Ptpro	C	T	6: 137,418,079 (GRCm39)	P142L	possibly damaging	Het
Rps17	A	G	7: 80,993,481 (GRCm39)		probably null	Het
Ryr1	A	G	7: 28,815,437 (GRCm39)	S132P	probably damaging	Het
Sacs	T	C	14: 61,441,958 (GRCm39)	S1335P	probably damaging	Het
Senp6	T	C	9: 80,029,305 (GRCm39)	V383A	possibly damaging	Het
Skint7	T	C	4: 111,837,416 (GRCm39)	F65L	probably damaging	Het
Slc35f1	T	C	10: 52,965,550 (GRCm39)	Y322H	probably damaging	Het
Slc38a4	C	A	15: 96,908,153 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sox15	T	A	11: 69,546,373 (GRCm39)	S59T	probably damaging	Het
Srcap	T	A	7: 127,159,910 (GRCm39)		probably benign	Het
Txlnb	A	T	10: 17,718,488 (GRCm39)	I440F	probably damaging	Het
Vmn1r178	A	G	7: 23,593,281 (GRCm39)	S37G	probably benign	Het
Vmn2r75	T	C	7: 85,797,798 (GRCm39)	T672A	probably damaging	Het
Wscd1	T	C	11: 71,659,586 (GRCm39)	V222A	probably benign	Het

Other mutations in Ces3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Ces3a	APN	8	105,777,202 (GRCm39)	missense	probably damaging	1.00
IGL01557:Ces3a	APN	8	105,784,383 (GRCm39)	missense	probably damaging	1.00
IGL02092:Ces3a	APN	8	105,776,962 (GRCm39)	splice site	probably benign
IGL02140:Ces3a	APN	8	105,782,263 (GRCm39)	missense	probably benign	0.07
K3955:Ces3a	UTSW	8	105,777,259 (GRCm39)	splice site	probably benign
R0724:Ces3a	UTSW	8	105,776,827 (GRCm39)	missense	possibly damaging	0.73
R1066:Ces3a	UTSW	8	105,782,288 (GRCm39)	missense	probably benign	0.01
R1223:Ces3a	UTSW	8	105,784,661 (GRCm39)	missense	probably benign	0.00
R1224:Ces3a	UTSW	8	105,778,141 (GRCm39)	missense	probably damaging	1.00
R1513:Ces3a	UTSW	8	105,776,909 (GRCm39)	missense	probably damaging	1.00
R1740:Ces3a	UTSW	8	105,775,317 (GRCm39)	missense	probably damaging	1.00
R2192:Ces3a	UTSW	8	105,782,212 (GRCm39)	missense	probably benign
R3407:Ces3a	UTSW	8	105,777,199 (GRCm39)	missense	probably damaging	1.00
R4002:Ces3a	UTSW	8	105,784,093 (GRCm39)	missense	probably damaging	1.00
R4668:Ces3a	UTSW	8	105,780,055 (GRCm39)	missense	probably damaging	1.00
R5045:Ces3a	UTSW	8	105,777,248 (GRCm39)	critical splice donor site	probably null
R5331:Ces3a	UTSW	8	105,784,188 (GRCm39)	missense	probably damaging	1.00
R5450:Ces3a	UTSW	8	105,784,550 (GRCm39)	missense	possibly damaging	0.83
R5535:Ces3a	UTSW	8	105,778,196 (GRCm39)	missense	probably benign	0.34
R5640:Ces3a	UTSW	8	105,778,377 (GRCm39)	missense	probably benign	0.42
R5881:Ces3a	UTSW	8	105,777,198 (GRCm39)	missense	probably damaging	1.00
R6795:Ces3a	UTSW	8	105,777,228 (GRCm39)	missense	possibly damaging	0.94
R7112:Ces3a	UTSW	8	105,784,594 (GRCm39)	missense	probably damaging	1.00
R7323:Ces3a	UTSW	8	105,782,239 (GRCm39)	missense	possibly damaging	0.54
R7419:Ces3a	UTSW	8	105,783,056 (GRCm39)	missense	probably damaging	1.00
R7475:Ces3a	UTSW	8	105,780,322 (GRCm39)	splice site	probably null
R7793:Ces3a	UTSW	8	105,782,293 (GRCm39)	critical splice donor site	probably null
R7934:Ces3a	UTSW	8	105,775,345 (GRCm39)	critical splice donor site	probably null
R8512:Ces3a	UTSW	8	105,784,661 (GRCm39)	missense	probably benign	0.00
R8757:Ces3a	UTSW	8	105,784,129 (GRCm39)	missense	probably damaging	0.99
R8759:Ces3a	UTSW	8	105,784,129 (GRCm39)	missense	probably damaging	0.99
R9353:Ces3a	UTSW	8	105,776,547 (GRCm39)	missense	probably benign	0.17
Z1176:Ces3a	UTSW	8	105,780,234 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GCTGACCATTCCTCTGAGAATGCC -3'
(R):5'- AGTTGCCCTGCTTGGATGCTAC -3'

Sequencing Primer
(F):5'- TATCTCCAGTCAGTGTCAGGGAC -3'
(R):5'- AAGGTCCAGGTAGGTCTGGC -3'

Posted On

2014-02-11