Mutagenetix > Incidental Mutation

Incidental Mutation 'R1223:Ces3a'

152806

Institutional Source

Beutler Lab

Gene Symbol

Ces3a

Ensembl Gene

ENSMUSG00000069922

Gene Name

carboxylesterase 3A

Synonyms

Es31, Es-male carboxylesterase

MMRRC Submission

039292-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R1223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105048601-105058413 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105058029 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 548 (T548S)

Ref Sequence

ENSEMBL: ENSMUSP00000090910 (fasta)

Gene Model

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

AlphaFold

Q63880

Predicted Effect

probably benign
Transcript: ENSMUST00000093222
AA Change: T548S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: T548S

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 benign
Transcript: ENSMUST00000093223
AA Change: T501S

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: T501S

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy9	A	T	16: 4,298,748	V873E	probably damaging	Het
Arl10	A	G	13: 54,578,931	D174G	probably damaging	Het
Cd180	A	T	13: 102,706,222	Y592F	possibly damaging	Het
Chd2	T	C	7: 73,484,517	E694G	probably damaging	Het
Commd3	T	C	2: 18,674,968	Y163H	probably benign	Het
Cyp8b1	A	G	9: 121,915,004	S421P	possibly damaging	Het
Cysltr2	A	T	14: 73,030,099	V57E	probably damaging	Het
D430042O09Rik	T	A	7: 125,760,423	V62E	possibly damaging	Het
Ddx47	G	A	6: 135,012,314	V34I	possibly damaging	Het
Dgkz	T	C	2: 91,939,315		probably benign	Het
Dsg2	G	T	18: 20,573,493	C22F	probably benign	Het
Gbp10	A	C	5: 105,219,001	V455G	probably damaging	Het
Gm12185	T	A	11: 48,907,276	I797F	probably damaging	Het
Lrrk2	A	G	15: 91,673,635	E58G	probably benign	Het
Mrgprb1	A	G	7: 48,447,687	V159A	possibly damaging	Het
Mybphl	A	G	3: 108,375,196	T182A	possibly damaging	Het
Olfr1154	G	A	2: 87,902,819	P286S	probably damaging	Het
Olfr676	A	T	7: 105,035,566	I123F	probably benign	Het
Osr1	C	T	12: 9,579,699	L191F	probably damaging	Het
Pip4k2b	G	A	11: 97,718,894	R406C	probably damaging	Het
Plce1	C	T	19: 38,702,013	L714F	probably damaging	Het
Plce1	T	C	19: 38,767,226	F1886S	probably damaging	Het
Ppp1cc	A	G	5: 122,168,214	E32G	probably damaging	Het
Rnh1	A	G	7: 141,163,207	L260P	probably damaging	Het
Serpinb3a	T	A	1: 107,047,552	N175I	probably damaging	Het
Sptbn5	T	A	2: 120,072,044	I68F	probably damaging	Het
Tas1r2	A	T	4: 139,660,204	T325S	probably damaging	Het
Tcirg1	T	C	19: 3,898,733	N484S	probably benign	Het
Tenm3	A	T	8: 48,240,396	M1833K	possibly damaging	Het
Thoc5	A	G	11: 4,921,922	E449G	probably benign	Het
Usp34	A	G	11: 23,446,464		probably null	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
R0724:Ces3a	UTSW	8	105050195	missense	possibly damaging	0.73
R1066:Ces3a	UTSW	8	105055656	missense	probably benign	0.01
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'- ACGCACAGGGTGAGTAGGTTACAC -3'
(R):5'- ACAGCAGCATGGTCCAGGCTAAAG -3'

Sequencing Primer
(F):5'- TACACAGGGCAGGCTTTGG -3'
(R):5'- GGTCCAGGCTAAAGTCTCTGAAC -3'

Posted On

2014-01-29