Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01324:Ces3b'

74185

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces3b

Ensembl Gene

ENSMUSG00000062181

Gene Name

carboxylesterase 3B

Synonyms

Gm4738, ES31L

Accession Numbers

Essential gene?

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

Stock #

IGL01324

Quality Score

Status

Chromosome

Chromosomal Location

105810385-105820561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105819884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 569 (E569V)

Ref Sequence

ENSEMBL: ENSMUSP00000090909 (fasta)

Gene Model

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

AlphaFold

Q8VCU1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074403
AA Change: E519V

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074004
Gene: ENSMUSG00000062181
AA Change: E519V

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 damaging
Transcript: ENSMUST00000093221
AA Change: E569V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090909
Gene: ENSMUSG00000062181
AA Change: E569V

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,980,396 (GRCm39)	G560D	probably damaging	Het
Ap1g1	T	A	8: 110,559,414 (GRCm39)	D239E	possibly damaging	Het
Ap2a1	T	A	7: 44,555,120 (GRCm39)	T482S	probably damaging	Het
BC004004	T	C	17: 29,501,225 (GRCm39)	L58P	probably damaging	Het
Camsap1	C	A	2: 25,823,635 (GRCm39)	V1472L	possibly damaging	Het
Commd6	G	A	14: 101,877,738 (GRCm39)		probably benign	Het
Ddx54	A	G	5: 120,761,703 (GRCm39)	D493G	probably benign	Het
Dync1h1	C	T	12: 110,593,299 (GRCm39)	R1189C	probably damaging	Het
Ern2	T	A	7: 121,782,413 (GRCm39)	I68F	possibly damaging	Het
Eya4	A	G	10: 22,992,449 (GRCm39)		probably null	Het
Gda	A	T	19: 21,387,250 (GRCm39)	I325K	probably damaging	Het
Gmnn	T	C	13: 24,936,105 (GRCm39)	T190A	probably benign	Het
Hdac4	G	A	1: 91,887,137 (GRCm39)	P801S	probably damaging	Het
Hnrnph3	A	T	10: 62,853,903 (GRCm39)	*72K	probably null	Het
Hoxd12	A	T	2: 74,505,480 (GRCm39)	N17I	probably damaging	Het
Incenp	G	A	19: 9,861,092 (GRCm39)	R497C	unknown	Het
Iqsec1	C	A	6: 90,666,685 (GRCm39)	R584L	probably damaging	Het
Kcnip1	A	G	11: 33,595,603 (GRCm39)	M1T	probably null	Het
Kcnu1	T	A	8: 26,339,735 (GRCm39)	S18T	probably benign	Het
Lepr	T	A	4: 101,625,265 (GRCm39)	D473E	probably benign	Het
Nfkbiz	T	C	16: 55,636,167 (GRCm39)	T564A	probably damaging	Het
Nsd3	C	T	8: 26,152,836 (GRCm39)	T392I	probably damaging	Het
Or10a5	T	C	7: 106,636,054 (GRCm39)	S231P	probably damaging	Het
Or10w1	T	C	19: 13,632,297 (GRCm39)	I163T	probably damaging	Het
P4ha2	A	G	11: 54,010,984 (GRCm39)	D333G	probably damaging	Het
Parg	T	C	14: 32,018,142 (GRCm39)		probably benign	Het
Psmc2	G	A	5: 22,005,007 (GRCm39)		probably null	Het
Rnf213	A	G	11: 119,338,063 (GRCm39)	Y3354C	probably damaging	Het
Siglec1	T	G	2: 130,927,461 (GRCm39)	D115A	probably damaging	Het
Slit3	G	T	11: 35,501,529 (GRCm39)	G421V	probably damaging	Het
Srgap3	T	A	6: 112,716,358 (GRCm39)	H590L	probably damaging	Het
Stk36	A	C	1: 74,664,769 (GRCm39)	T628P	possibly damaging	Het
Stx12	A	T	4: 132,590,576 (GRCm39)	M107K	probably benign	Het
Syne2	G	T	12: 76,090,526 (GRCm39)	V5105F	probably damaging	Het
Tecta	T	C	9: 42,256,727 (GRCm39)	S1650G	probably damaging	Het
Tlr1	T	C	5: 65,082,522 (GRCm39)	N685S	probably damaging	Het
Trio	A	G	15: 27,905,409 (GRCm39)	V60A	probably benign	Het
Ttyh3	G	A	5: 140,617,268 (GRCm39)	R334W	probably benign	Het
Ube2u	A	G	4: 100,336,422 (GRCm39)	E15G	possibly damaging	Het
Ush2a	G	T	1: 188,581,189 (GRCm39)	V3690L	probably benign	Het
Xab2	A	G	8: 3,671,232 (GRCm39)	V16A	possibly 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
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
R0282:Ces3b	UTSW	8	105,810,483 (GRCm39)	missense	probably benign	0.00
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

Posted On

2013-10-07