Mutagenetix > Incidental Mutation

Incidental Mutation 'R0282:Ces3b'

37622

Institutional Source

Beutler Lab

Gene Symbol

Ces3b

Ensembl Gene

ENSMUSG00000062181

Gene Name

carboxylesterase 3B

Synonyms

Gm4738, ES31L

MMRRC Submission

038504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0282 (G1)

Quality Score

177

Status

Validated

Chromosome

Chromosomal Location

105810385-105820561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105810483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 26 (V26D)

Ref Sequence

ENSEMBL: ENSMUSP00000090909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074403] [ENSMUST00000093221] [ENSMUST00000173088]

AlphaFold

Q8VCU1

Predicted Effect

probably benign
Transcript: ENSMUST00000074403
AA Change: V26D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074004
Gene: ENSMUSG00000062181
AA Change: V26D

Domain	Start	End	E-Value	Type
Pfam:COesterase	13	436	1.8e-127	PFAM
Pfam:Abhydrolase_3	147	303	2.8e-13	PFAM
Pfam:COesterase	423	497	5.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093221
AA Change: V26D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000090909
Gene: ENSMUSG00000062181
AA Change: V26D

Domain	Start	End	E-Value	Type
Pfam:COesterase	13	547	9.5e-163	PFAM
Pfam:Abhydrolase_3	147	304	2.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173088

SMART Domains

Protein: ENSMUSP00000134204
Gene: ENSMUSG00000062181

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	114	2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173838

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Afap1l2	A	G	19: 56,904,653 (GRCm39)	S549P	possibly damaging	Het
Alcam	A	T	16: 52,116,104 (GRCm39)	C157S	probably damaging	Het
Aldh1a1	T	C	19: 20,606,413 (GRCm39)		probably benign	Het
Ano8	G	A	8: 71,933,258 (GRCm39)		probably benign	Het
Atr	T	C	9: 95,744,851 (GRCm39)	V56A	probably benign	Het
Aurkc	T	A	7: 7,005,427 (GRCm39)		probably null	Het
Bnip3	T	C	7: 138,499,759 (GRCm39)	D76G	probably damaging	Het
Cbr1	A	G	16: 93,407,022 (GRCm39)	E246G	possibly damaging	Het
Ccdc157	G	T	11: 4,096,708 (GRCm39)	A449D	probably damaging	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crk	G	T	11: 75,594,195 (GRCm39)	G261C	probably damaging	Het
Ctbp1	A	G	5: 33,408,200 (GRCm39)		probably null	Het
Ctnna1	G	A	18: 35,377,175 (GRCm39)	V572I	possibly damaging	Het
D430041D05Rik	T	C	2: 104,031,589 (GRCm39)	Y1669C	probably damaging	Het
Dnah8	T	C	17: 30,955,130 (GRCm39)	F2053S	probably damaging	Het
Dner	G	A	1: 84,383,686 (GRCm39)	T566M	probably damaging	Het
Dner	A	G	1: 84,423,101 (GRCm39)		probably benign	Het
Edrf1	T	C	7: 133,245,751 (GRCm39)	V223A	probably benign	Het
Fam169a	A	G	13: 97,234,223 (GRCm39)		probably benign	Het
Fbxl3	G	A	14: 103,332,661 (GRCm39)	H106Y	probably damaging	Het
Fiz1	A	G	7: 5,012,200 (GRCm39)	V106A	probably benign	Het
Gapvd1	T	A	2: 34,578,972 (GRCm39)	R654*	probably null	Het
Gm7589	G	A	9: 59,053,288 (GRCm39)		noncoding transcript	Het
Ifi202b	A	T	1: 173,804,926 (GRCm39)	S9T	probably benign	Het
Ipmk	G	C	10: 71,208,661 (GRCm39)	S149T	probably benign	Het
Irgm2	A	G	11: 58,110,345 (GRCm39)	E24G	probably benign	Het
Itga2b	A	C	11: 102,351,672 (GRCm39)	V551G	probably damaging	Het
Itgad	C	T	7: 127,789,150 (GRCm39)		probably benign	Het
Kcnh8	T	A	17: 53,032,879 (GRCm39)	F55L	probably damaging	Het
Kdr	G	A	5: 76,110,760 (GRCm39)		probably benign	Het
Krt35	T	C	11: 99,986,573 (GRCm39)	Y147C	probably damaging	Het
Lamc1	A	G	1: 153,131,058 (GRCm39)	F298L	probably benign	Het
Lrrk2	T	C	15: 91,662,617 (GRCm39)		probably benign	Het
Matn1	T	C	4: 130,673,238 (GRCm39)	S69P	probably damaging	Het
Micall1	G	T	15: 79,016,101 (GRCm39)		probably benign	Het
Msto1	A	G	3: 88,818,884 (GRCm39)	V257A	possibly damaging	Het
Mybpc3	G	C	2: 90,954,369 (GRCm39)		probably benign	Het
Mycn	A	G	12: 12,987,314 (GRCm39)	V361A	probably benign	Het
Myo10	A	G	15: 25,793,253 (GRCm39)	T1277A	probably damaging	Het
Myo3a	T	C	2: 22,250,409 (GRCm39)	I92T	probably benign	Het
Nup50l	T	C	6: 96,141,797 (GRCm39)	T416A	probably benign	Het
Or10g1	A	G	14: 52,647,720 (GRCm39)	V203A	possibly damaging	Het
Or2k2	A	G	4: 58,785,344 (GRCm39)	I126T	probably damaging	Het
Or4c104	G	A	2: 88,586,800 (GRCm39)	T73I	probably damaging	Het
Or56b1b	T	A	7: 108,164,684 (GRCm39)	Q106L	probably damaging	Het
Otog	C	T	7: 45,926,917 (GRCm39)	T1222I	possibly damaging	Het
P4ha1	C	T	10: 59,172,970 (GRCm39)	T23M	probably damaging	Het
Pld1	A	T	3: 28,132,422 (GRCm39)	I537F	probably benign	Het
Plekhn1	A	G	4: 156,312,780 (GRCm39)		probably benign	Het
Pxdn	C	A	12: 30,034,439 (GRCm39)	S8*	probably null	Het
Rnf135	A	T	11: 80,084,784 (GRCm39)	I186F	probably damaging	Het
Rock2	T	C	12: 17,027,887 (GRCm39)		probably benign	Het
Rph3a	C	A	5: 121,101,973 (GRCm39)	G88*	probably null	Het
Sarm1	G	A	11: 78,365,806 (GRCm39)	Q740*	probably null	Het
Setd1b	C	A	5: 123,299,080 (GRCm39)		probably benign	Het
Sidt1	A	G	16: 44,102,249 (GRCm39)	S304P	possibly damaging	Het
Slc2a4	A	T	11: 69,837,181 (GRCm39)	V85E	probably damaging	Het
Swi5	A	G	2: 32,170,766 (GRCm39)	Y54H	probably damaging	Het
Sycp1	A	G	3: 102,823,111 (GRCm39)		probably benign	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tmem67	G	A	4: 12,087,930 (GRCm39)	T72M	probably damaging	Het
Tor1a	A	G	2: 30,857,737 (GRCm39)	Y44H	possibly damaging	Het
Ttll5	T	C	12: 86,042,827 (GRCm39)	Y1128H	probably benign	Het
Usp40	G	A	1: 87,908,680 (GRCm39)		probably benign	Het
Vmn2r18	A	T	5: 151,508,668 (GRCm39)	M152K	probably benign	Het
Xirp2	T	A	2: 67,343,724 (GRCm39)	D1988E	probably damaging	Het
Zfp420	A	G	7: 29,575,105 (GRCm39)	I442V	probably benign	Het
Zyx	A	G	6: 42,332,939 (GRCm39)	E363G	probably damaging	Het

Other mutations in Ces3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01069:Ces3b	APN	8	105,818,206 (GRCm39)	missense	probably benign	0.00
IGL01324:Ces3b	APN	8	105,819,884 (GRCm39)	missense	probably damaging	0.99
IGL02418:Ces3b	APN	8	105,812,279 (GRCm39)	missense	probably damaging	1.00
IGL02612:Ces3b	APN	8	105,811,901 (GRCm39)	missense	possibly damaging	0.83
IGL03400:Ces3b	APN	8	105,819,568 (GRCm39)	missense	probably damaging	1.00
R0244:Ces3b	UTSW	8	105,819,267 (GRCm39)	missense	probably damaging	1.00
R0800:Ces3b	UTSW	8	105,811,901 (GRCm39)	missense	possibly damaging	0.83
R1833:Ces3b	UTSW	8	105,812,271 (GRCm39)	missense	probably damaging	0.98
R2130:Ces3b	UTSW	8	105,819,607 (GRCm39)	critical splice donor site	probably null
R3790:Ces3b	UTSW	8	105,813,520 (GRCm39)	missense	possibly damaging	0.50
R4827:Ces3b	UTSW	8	105,813,527 (GRCm39)	missense	probably benign	0.12
R5411:Ces3b	UTSW	8	105,815,264 (GRCm39)	missense	possibly damaging	0.94
R5790:Ces3b	UTSW	8	105,819,270 (GRCm39)	missense	probably damaging	1.00
R5798:Ces3b	UTSW	8	105,815,072 (GRCm39)	missense	probably damaging	1.00
R5929:Ces3b	UTSW	8	105,819,797 (GRCm39)	missense	probably damaging	1.00
R6437:Ces3b	UTSW	8	105,819,238 (GRCm39)	missense	probably damaging	1.00
R6470:Ces3b	UTSW	8	105,815,285 (GRCm39)	missense	possibly damaging	0.87
R6943:Ces3b	UTSW	8	105,819,710 (GRCm39)	missense	probably damaging	1.00
R7828:Ces3b	UTSW	8	105,813,228 (GRCm39)	missense	probably damaging	1.00
R7856:Ces3b	UTSW	8	105,819,894 (GRCm39)	makesense	probably null
R8162:Ces3b	UTSW	8	105,817,385 (GRCm39)	missense	possibly damaging	0.83
R8924:Ces3b	UTSW	8	105,811,619 (GRCm39)	missense	probably benign	0.08
R9369:Ces3b	UTSW	8	105,813,502 (GRCm39)	missense	probably damaging	1.00
R9381:Ces3b	UTSW	8	105,811,670 (GRCm39)	missense	probably benign	0.30
R9651:Ces3b	UTSW	8	105,812,257 (GRCm39)	missense	probably damaging	1.00
R9652:Ces3b	UTSW	8	105,812,257 (GRCm39)	missense	probably damaging	1.00
R9653:Ces3b	UTSW	8	105,812,257 (GRCm39)	missense	probably damaging	1.00
Z1177:Ces3b	UTSW	8	105,811,715 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCAGGCAAGAGTAGAATCATCCAC -3'
(R):5'- GAAGGAGTCTCACCCAGTTTTCCAC -3'

Sequencing Primer
(F):5'- aggggtggtggtggtgg -3'
(R):5'- AAGTAAGCTTCCTTTGTGACGC -3'

Posted On

2013-05-23