Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Ces3a'

63818

Institutional Source

Beutler Lab

Gene Symbol

Ces3a

Ensembl Gene

ENSMUSG00000069922

Gene Name

carboxylesterase 3A

Synonyms

Es-male carboxylesterase, Es31

MMRRC Submission

038906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0724 (G1)

Quality Score

108

Status

Validated

Chromosome

Chromosomal Location

105775233-105785045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105776827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 103 (D103E)

Ref Sequence

ENSEMBL: ENSMUSP00000090911 (fasta)

Gene Model

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

AlphaFold

Q63880

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093222
AA Change: D103E

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: D103E

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

possibly damaging
Transcript: ENSMUST00000093223
AA Change: D103E

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: D103E

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: ENSMUST00000212329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213031

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213054

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.5%
20x: 95.2%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	A	G	5: 144,981,573 (GRCm39)	E136G	probably benign	Het
Adgre4	T	A	17: 56,159,281 (GRCm39)	S655R	probably benign	Het
Ak7	T	A	12: 105,676,513 (GRCm39)	V71E	probably benign	Het
Ank2	C	T	3: 126,755,986 (GRCm39)	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,976,607 (GRCm39)	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,499,755 (GRCm39)	I109N	possibly damaging	Het
Camta1	A	G	4: 151,162,349 (GRCm39)	I119T	probably damaging	Het
Carm1	A	G	9: 21,498,670 (GRCm39)	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077 (GRCm39)	P177L	probably benign	Het
Ccdc122	C	A	14: 77,329,517 (GRCm39)		probably benign	Het
Ces1a	A	G	8: 93,766,141 (GRCm39)	S158P	probably damaging	Het
Clstn1	A	C	4: 149,728,081 (GRCm39)	D583A	possibly damaging	Het
Corin	A	G	5: 72,490,138 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,610,283 (GRCm39)	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377 (GRCm39)		probably null	Het
Dis3l	T	C	9: 64,214,408 (GRCm39)	T1027A	possibly damaging	Het
Dop1b	A	G	16: 93,559,213 (GRCm39)	E653G	probably benign	Het
Dst	A	G	1: 34,227,758 (GRCm39)	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,057,877 (GRCm39)	T64A	probably benign	Het
Emp2	C	T	16: 10,102,479 (GRCm39)	C111Y	probably benign	Het
Enam	A	G	5: 88,649,853 (GRCm39)	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,193,984 (GRCm39)	C1328S	probably benign	Het
Gata3	T	C	2: 9,879,386 (GRCm39)	T197A	probably benign	Het
Gm1043	A	G	5: 37,344,573 (GRCm39)	T212A	probably damaging	Het
H2-Eb1	T	C	17: 34,534,006 (GRCm39)		probably benign	Het
Hand1	T	C	11: 57,722,506 (GRCm39)	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,204,317 (GRCm39)	Y239*	probably null	Het
Hoxc12	A	G	15: 102,845,490 (GRCm39)	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,096,579 (GRCm39)	I143V	probably benign	Het
Klhdc2	C	A	12: 69,343,822 (GRCm39)	F18L	probably benign	Het
Kpnb1	T	C	11: 97,069,130 (GRCm39)	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,635,570 (GRCm39)	N315I	probably damaging	Het
Map3k10	A	C	7: 27,367,780 (GRCm39)	V286G	probably damaging	Het
Myo7b	G	A	18: 32,138,602 (GRCm39)		probably benign	Het
Nlrp2	G	T	7: 5,322,221 (GRCm39)	L809I	probably damaging	Het
Oacyl	T	C	18: 65,870,896 (GRCm39)		probably benign	Het
Or4q3	A	G	14: 50,583,374 (GRCm39)	V175A	possibly damaging	Het
Paxbp1	T	A	16: 90,833,424 (GRCm39)	D270V	probably damaging	Het
Pdia3	G	A	2: 121,262,858 (GRCm39)	G275S	probably damaging	Het
Pira13	T	C	7: 3,819,871 (GRCm39)	N564S	possibly damaging	Het
Plcb3	G	A	19: 6,940,760 (GRCm39)	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,546,350 (GRCm39)	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,583,144 (GRCm39)	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,159,752 (GRCm39)	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,972,643 (GRCm39)		probably benign	Het
Smim14	A	G	5: 65,610,682 (GRCm39)		probably benign	Het
Sost	C	T	11: 101,857,744 (GRCm39)	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,652,301 (GRCm39)	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829 (GRCm39)	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,860,485 (GRCm39)	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tshr	T	C	12: 91,505,060 (GRCm39)	F666S	probably damaging	Het
Wdr1	A	G	5: 38,698,205 (GRCm39)	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,335,482 (GRCm39)	W416R	probably damaging	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
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
R1340:Ces3a	UTSW	8	105,784,545 (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'- GTGTGAGAGATGCCAGCATCAATCC -3'
(R):5'- ATGGCTTTGAATCAGTGGCCCCAG -3'

Sequencing Primer
(F):5'- CCCCAATGTGAGTACCCCTG -3'
(R):5'- AGCCCAGGGTATTTTAAGGACTTC -3'

Posted On

2013-07-30