Mutagenetix > Incidental Mutation

Incidental Mutation 'R0724:Ces3a'

63818

Institutional Source

Beutler Lab

Gene Symbol

Ces3a

Ensembl Gene

ENSMUSG00000069922

Gene Name

carboxylesterase 3A

Synonyms

Es31, Es-male carboxylesterase

MMRRC Submission

038906-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R0724 (G1)

Quality Score

108

Status

Validated

Chromosome

Chromosomal Location

105048601-105058413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105050195 bp (GRCm38)

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: 145,044,763	E136G	probably benign	Het
Adgre4	T	A	17: 55,852,281	S655R	probably benign	Het
Ak7	T	A	12: 105,710,254	V71E	probably benign	Het
Ank2	C	T	3: 126,962,337	R1077H	probably damaging	Het
Anxa3	A	G	5: 96,828,748	T198A	possibly damaging	Het
Atp1a1	A	T	3: 101,592,439	I109N	possibly damaging	Het
Camta1	A	G	4: 151,077,892	I119T	probably damaging	Het
Carm1	A	G	9: 21,587,374	Y504C	probably damaging	Het
Casp1	C	T	9: 5,303,077	P177L	probably benign	Het
Ccdc122	C	A	14: 77,092,077		probably benign	Het
Ces1a	A	G	8: 93,039,513	S158P	probably damaging	Het
Clstn1	A	C	4: 149,643,624	D583A	possibly damaging	Het
Corin	A	G	5: 72,332,795		probably benign	Het
Cryba1	T	C	11: 77,719,457	D144G	probably damaging	Het
Cwf19l2	G	T	9: 3,421,377		probably null	Het
Dis3l	T	C	9: 64,307,126	T1027A	possibly damaging	Het
Dopey2	A	G	16: 93,762,325	E653G	probably benign	Het
Dst	A	G	1: 34,188,677	I1459V	probably benign	Het
Dyrk3	T	C	1: 131,130,140	T64A	probably benign	Het
Emp2	C	T	16: 10,284,615	C111Y	probably benign	Het
Enam	A	G	5: 88,501,994	Y454C	probably damaging	Het
Fbn1	A	T	2: 125,352,064	C1328S	probably benign	Het
Gata3	T	C	2: 9,874,575	T197A	probably benign	Het
Gm1043	A	G	5: 37,187,229	T212A	probably damaging	Het
Gm15448	T	C	7: 3,816,872	N564S	possibly damaging	Het
H2-Eb1	T	C	17: 34,315,032		probably benign	Het
Hand1	T	C	11: 57,831,680	H36R	probably damaging	Het
Hmgcs2	C	A	3: 98,297,001	Y239*	probably null	Het
Hoxc12	A	G	15: 102,937,055	Y68C	probably damaging	Het
Inpp5a	A	G	7: 139,516,663	I143V	probably benign	Het
Klhdc2	C	A	12: 69,297,048	F18L	probably benign	Het
Kpnb1	T	C	11: 97,178,304	Y251C	probably damaging	Het
Lrch4	A	T	5: 137,637,308	N315I	probably damaging	Het
Map3k10	A	C	7: 27,668,355	V286G	probably damaging	Het
Myo7b	G	A	18: 32,005,549		probably benign	Het
Nlrp2	G	T	7: 5,319,222	L809I	probably damaging	Het
Oacyl	T	C	18: 65,737,825		probably benign	Het
Olfr735	A	G	14: 50,345,917	V175A	possibly damaging	Het
Paxbp1	T	A	16: 91,036,536	D270V	probably damaging	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Plcb3	G	A	19: 6,963,392	R359C	probably damaging	Het
Plcxd3	G	A	15: 4,516,868	S118N	probably damaging	Het
Ptpn14	T	C	1: 189,850,947	S664P	possibly damaging	Het
Sirt1	T	C	10: 63,323,973	I443V	possibly damaging	Het
Slc7a8	G	A	14: 54,735,186		probably benign	Het
Smim14	A	G	5: 65,453,339		probably benign	Het
Sost	C	T	11: 101,966,918	C19Y	probably benign	Het
Tcaf1	G	T	6: 42,675,367	A727E	probably damaging	Het
Thoc1	T	C	18: 9,963,829	L144P	probably damaging	Het
Tmem132b	A	T	5: 125,783,421	T577S	possibly damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Tshr	T	C	12: 91,538,286	F666S	probably damaging	Het
Wdr1	A	G	5: 38,540,862	V192A	possibly damaging	Het
Zfp697	T	C	3: 98,428,166	W416R	probably damaging	Het

Other mutations in Ces3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Ces3a	APN	8	105050570	missense	probably damaging	1.00
IGL01557:Ces3a	APN	8	105057751	missense	probably damaging	1.00
IGL02092:Ces3a	APN	8	105050330	splice site	probably benign
IGL02140:Ces3a	APN	8	105055631	missense	probably benign	0.07
K3955:Ces3a	UTSW	8	105050627	splice site	probably benign
R1066:Ces3a	UTSW	8	105055656	missense	probably benign	0.01
R1223:Ces3a	UTSW	8	105058029	missense	probably benign	0.00
R1224:Ces3a	UTSW	8	105051509	missense	probably damaging	1.00
R1340:Ces3a	UTSW	8	105057913	missense	probably damaging	1.00
R1513:Ces3a	UTSW	8	105050277	missense	probably damaging	1.00
R1740:Ces3a	UTSW	8	105048685	missense	probably damaging	1.00
R2192:Ces3a	UTSW	8	105055580	missense	probably benign
R3407:Ces3a	UTSW	8	105050567	missense	probably damaging	1.00
R4002:Ces3a	UTSW	8	105057461	missense	probably damaging	1.00
R4668:Ces3a	UTSW	8	105053423	missense	probably damaging	1.00
R5045:Ces3a	UTSW	8	105050616	critical splice donor site	probably null
R5331:Ces3a	UTSW	8	105057556	missense	probably damaging	1.00
R5450:Ces3a	UTSW	8	105057918	missense	possibly damaging	0.83
R5535:Ces3a	UTSW	8	105051564	missense	probably benign	0.34
R5640:Ces3a	UTSW	8	105051745	missense	probably benign	0.42
R5881:Ces3a	UTSW	8	105050566	missense	probably damaging	1.00
R6795:Ces3a	UTSW	8	105050596	missense	possibly damaging	0.94
R7112:Ces3a	UTSW	8	105057962	missense	probably damaging	1.00
R7323:Ces3a	UTSW	8	105055607	missense	possibly damaging	0.54
R7419:Ces3a	UTSW	8	105056424	missense	probably damaging	1.00
R7475:Ces3a	UTSW	8	105053690	splice site	probably null
R7793:Ces3a	UTSW	8	105055661	critical splice donor site	probably null
R7934:Ces3a	UTSW	8	105048713	critical splice donor site	probably null
R8512:Ces3a	UTSW	8	105058029	missense	probably benign	0.00
R8757:Ces3a	UTSW	8	105057497	missense	probably damaging	0.99
R8759:Ces3a	UTSW	8	105057497	missense	probably damaging	0.99
R9353:Ces3a	UTSW	8	105049915	missense	probably benign	0.17
Z1176:Ces3a	UTSW	8	105053602	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