Mutagenetix > Incidental Mutations

Incidental Mutation 'R5816:Ces1b'

449046

Institutional Source

Beutler Lab

Gene Symbol

Ces1b

Ensembl Gene

ENSMUSG00000078964

Gene Name

carboxylesterase 1B

Synonyms

Gm5158

MMRRC Submission

043214-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5816 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93056728-93080017 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93073262 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 162 (N162S)

Ref Sequence

ENSEMBL: ENSMUSP00000105210 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109582]

Predicted Effect

probably benign
Transcript: ENSMUST00000109582
AA Change: N162S

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: N162S

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	547	7.6e-168	PFAM
Pfam:Abhydrolase_3	136	245	8.5e-11	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,343,737	D1501G	probably damaging	Het
Aldh8a1	A	T	10: 21,395,430	I352F	probably damaging	Het
Bend7	G	A	2: 4,744,332	E87K	probably damaging	Het
Bend7	A	G	2: 4,752,899	R251G	probably benign	Het
Cep72	A	T	13: 74,049,031	S402T	probably benign	Het
Cer1	A	G	4: 82,882,883	V181A	probably damaging	Het
Cyp1a2	T	C	9: 57,681,053	N296S	probably benign	Het
Dst	C	T	1: 34,179,234	A1585V	probably benign	Het
Dzip1	G	A	14: 118,909,480	P339L	probably benign	Het
Eif4enif1	T	C	11: 3,242,401	I568T	probably benign	Het
Eif5a	C	T	11: 69,917,673	R109Q	possibly damaging	Het
Fam49a	A	G	12: 12,358,165	D64G	probably benign	Het
Foxj2	G	A	6: 122,833,736	S225N	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,965		probably benign	Het
Galnt14	T	C	17: 73,574,882	Y74C	probably damaging	Het
Glrb	T	A	3: 80,861,979	N147I	probably damaging	Het
Grb14	A	T	2: 64,917,284	M377K	probably damaging	Het
Kcng1	C	T	2: 168,268,723	E174K	possibly damaging	Het
Kdm3b	A	C	18: 34,828,469	E1433A	probably damaging	Het
Matn3	G	A	12: 8,970,571	R481H	probably damaging	Het
Mcm6	A	G	1: 128,348,455	V331A	probably benign	Het
Mdga2	T	C	12: 66,655,182	Y415C	probably damaging	Het
Med11	T	C	11: 70,452,285	S65P	probably damaging	Het
Metrnl	T	A	11: 121,708,112	S166T	probably benign	Het
Mllt6	A	G	11: 97,672,574	K328E	probably damaging	Het
Nek5	T	C	8: 22,096,736	K353R	probably benign	Het
Olfr599	A	G	7: 103,338,995	T314A	probably benign	Het
Olfr965	T	A	9: 39,719,230	M1K	probably null	Het
Pfkl	A	T	10: 78,002,022	N46K	possibly damaging	Het
Phactr3	A	G	2: 178,302,793	E428G	probably damaging	Het
Pkhd1	T	C	1: 20,058,678	S3934G	probably benign	Het
Pkhd1l1	A	G	15: 44,566,322	D3312G	probably benign	Het
Prmt8	G	A	6: 127,697,738	T309I	probably benign	Het
Psd3	A	T	8: 67,960,510	V742E	possibly damaging	Het
S100a14	A	G	3: 90,527,850	H56R	probably damaging	Het
Scaf8	T	A	17: 3,177,713	S406T	unknown	Het
Slc26a4	G	T	12: 31,528,685	H656Q	probably damaging	Het
Smarcc1	T	C	9: 110,197,644	V724A	possibly damaging	Het
Thbs2	C	T	17: 14,684,071		probably null	Het
Zbtb6	A	T	2: 37,429,215	F234I	probably benign	Het
Zfp536	C	T	7: 37,480,628	D851N	probably damaging	Het

Other mutations in Ces1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Ces1b	APN	8	93071994	missense	probably damaging	0.98
IGL01939:Ces1b	APN	8	93079431	missense	probably damaging	1.00
IGL02314:Ces1b	APN	8	93064896	missense	possibly damaging	0.95
IGL02338:Ces1b	APN	8	93057047	missense	possibly damaging	0.77
IGL02647:Ces1b	APN	8	93057044	missense	probably benign	0.00
IGL02833:Ces1b	APN	8	93079410	missense	probably damaging	1.00
IGL03038:Ces1b	APN	8	93067052	missense	probably benign
IGL03149:Ces1b	APN	8	93064874	splice site	probably benign
FR4548:Ces1b	UTSW	8	93068092	missense	probably null
IGL02802:Ces1b	UTSW	8	93056966	missense	possibly damaging	0.64
R0382:Ces1b	UTSW	8	93076052	splice site	probably benign
R0893:Ces1b	UTSW	8	93079428	missense	probably benign	0.11
R0959:Ces1b	UTSW	8	93068147	missense	probably damaging	1.00
R1386:Ces1b	UTSW	8	93068077	missense	probably benign	0.02
R1440:Ces1b	UTSW	8	93068108	missense	probably damaging	0.97
R1667:Ces1b	UTSW	8	93056904	missense	possibly damaging	0.75
R2113:Ces1b	UTSW	8	93068155	missense	probably benign
R2193:Ces1b	UTSW	8	93079877	missense	probably benign	0.00
R2508:Ces1b	UTSW	8	93073341	missense	possibly damaging	0.75
R4656:Ces1b	UTSW	8	93057414	missense	probably damaging	0.96
R4776:Ces1b	UTSW	8	93063030	missense	possibly damaging	0.92
R5108:Ces1b	UTSW	8	93071913	missense	probably damaging	1.00
R5117:Ces1b	UTSW	8	93073209	critical splice donor site	probably null
R5308:Ces1b	UTSW	8	93067017	missense	probably benign	0.00
R5381:Ces1b	UTSW	8	93065019	missense	probably benign	0.02
R5392:Ces1b	UTSW	8	93071962	missense	probably damaging	0.98
R5614:Ces1b	UTSW	8	93068208	missense	probably benign	0.00
R6554:Ces1b	UTSW	8	93064991	missense	probably benign	0.03
R6576:Ces1b	UTSW	8	93056919	missense	probably benign	0.06
R6601:Ces1b	UTSW	8	93079481	missense	probably benign
R6662:Ces1b	UTSW	8	93064069	missense	probably benign	0.33
R6753:Ces1b	UTSW	8	93067020	nonsense	probably null
R6904:Ces1b	UTSW	8	93060410	missense	probably damaging	0.96
R7267:Ces1b	UTSW	8	93079504	missense	possibly damaging	0.58
R7371:Ces1b	UTSW	8	93057354	critical splice donor site	probably null
R7396:Ces1b	UTSW	8	93063129	missense	probably benign	0.00
X0024:Ces1b	UTSW	8	93063017	missense	probably benign
Z1088:Ces1b	UTSW	8	93064966	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AAACCTTTCAATCAACCTCTGGTC -3'
(R):5'- GAGTCAGCCTTTTGCAACCTTC -3'

Sequencing Primer
(F):5'- AACCTCTGGTCTTATATCTAGACAC -3'
(R):5'- TGGTTTGATCAATGACCTCCAG -3'

Posted On

2016-12-20