Mutagenetix > Incidental Mutations

Incidental Mutation 'R5308:Ces1b'

501118

Institutional Source

Beutler Lab

Gene Symbol

Ces1b

Ensembl Gene

ENSMUSG00000078964

Gene Name

carboxylesterase 1B

Synonyms

Gm5158

MMRRC Submission

042891-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R5308 (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 93067017 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 315 (K315E)

Ref Sequence

ENSEMBL: ENSMUSP00000105210 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109582
AA Change: K315E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: K315E

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: 99.2%
3x: 97.7%
10x: 95.4%
20x: 91.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	G	3: 124,406,350	G531A	probably damaging	Het
2410089E03Rik	G	A	15: 8,260,690		probably null	Het
4921504E06Rik	T	C	2: 19,524,081	D163G	probably damaging	Het
4931406P16Rik	T	A	7: 34,245,755	K355*	probably null	Het
Abcd4	C	T	12: 84,603,293		probably null	Het
Alg9	T	C	9: 50,822,711	S570P	possibly damaging	Het
Angptl3	C	A	4: 99,034,486	H255N	probably benign	Het
Ank3	G	A	10: 70,002,565	R1566K	possibly damaging	Het
Cdc37	A	T	9: 21,140,764	D326E	probably benign	Het
Cdk13	T	C	13: 17,772,313	K6R	probably damaging	Het
Cfap61	G	A	2: 146,109,988	G190S	probably damaging	Het
Ckap4	T	C	10: 84,528,374	E275G	probably benign	Het
Csf3r	A	G	4: 126,035,344	D349G	probably benign	Het
Cyp2d37-ps	T	C	15: 82,689,811		noncoding transcript	Het
Dmbt1	T	A	7: 131,041,021	C190S	probably damaging	Het
Dnah11	A	G	12: 118,085,680	F1670L	possibly damaging	Het
Dnah5	A	T	15: 28,229,651	I144F	possibly damaging	Het
Eno2	C	A	6: 124,767,093	V84L	probably damaging	Het
Ercc4	G	T	16: 13,130,164	R325L	probably damaging	Het
Fam71e1	T	C	7: 44,500,182	V109A	probably damaging	Het
Fcgr2b	T	G	1: 170,965,710	Q250P	probably benign	Het
Gcfc2	T	C	6: 81,943,543		probably null	Het
Glb1l2	C	T	9: 26,764,759	G509D	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Grn	A	G	11: 102,436,192	N160D	possibly damaging	Het
Hexdc	T	A	11: 121,222,269	V510D	probably damaging	Het
Igfbp1	G	A	11: 7,199,919		probably null	Het
Itga11	T	A	9: 62,755,769	M589K	probably benign	Het
Itpr1	A	T	6: 108,356,511	S51C	probably damaging	Het
Klra3	T	C	6: 130,334,307		probably null	Het
Mad2l1	T	C	6: 66,537,691		probably null	Het
Matn3	CGGGGCTCGGGGGC	CGGGGC	12: 8,952,308		probably null	Het
Myo9a	T	A	9: 59,863,961	Y939N	probably damaging	Het
Nxpe3	C	T	16: 55,866,471	S58N	probably benign	Het
Olfr1195	T	C	2: 88,683,405	E109G	probably benign	Het
Olfr1295	C	T	2: 111,564,554	A297T	probably damaging	Het
Olfr345	T	A	2: 36,640,694	Y218*	probably null	Het
Olfr402	T	A	11: 74,155,571	M139K	probably damaging	Het
Paics	T	C	5: 76,956,632	S35P	probably damaging	Het
Pcnt	A	C	10: 76,356,325	Y2717*	probably null	Het
Pifo	T	C	3: 106,001,103	T107A	probably benign	Het
Plekho2	T	A	9: 65,558,675	N144Y	probably damaging	Het
Plscr5	T	C	9: 92,198,512	F17S	possibly damaging	Het
Prrc2a	C	T	17: 35,161,047	R192H	unknown	Het
Rbm27	T	A	18: 42,327,210	M735K	probably damaging	Het
Rfc1	T	A	5: 65,279,461	K625N	probably damaging	Het
Ric8b	T	A	10: 84,947,747	F156L	probably benign	Het
Romo1	C	A	2: 156,144,553	A32E	possibly damaging	Het
Rpl26	T	A	11: 68,904,458	Y135N	probably damaging	Het
Sacs	T	C	14: 61,192,400	V636A	probably benign	Het
Scyl2	A	T	10: 89,642,007	I710N	probably benign	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc4a1	T	A	11: 102,359,077	I154F	probably damaging	Het
Snx11	A	G	11: 96,770,709	S157P	probably damaging	Het
Snx18	G	A	13: 113,616,847	Q517*	probably null	Het
Stard4	G	T	18: 33,203,625	N212K	probably damaging	Het
Strn3	A	G	12: 51,629,385	Y454H	probably damaging	Het
Stx17	A	T	4: 48,182,851		probably benign	Het
Tas2r121	G	A	6: 132,700,517	T164I	possibly damaging	Het
Tbc1d8	T	C	1: 39,389,409	Y485C	probably damaging	Het
Tmem45b	T	C	9: 31,429,084	M8V	probably damaging	Het
Usp28	T	C	9: 49,037,201	F844L	probably damaging	Het
Usp32	T	A	11: 85,017,718	N1054I	probably benign	Het
Xpa	T	A	4: 46,185,659	E106D	probably benign	Het
Zfp85	C	T	13: 67,748,855	C366Y	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
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
R5816:Ces1b	UTSW	8	93073262	missense	probably benign	0.05
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'- TCCTTGCACCATCTCAGGAC -3'
(R):5'- TCAATTATGGTCCTAGGATAGCCATC -3'

Sequencing Primer
(F):5'- CCATCTCAGGACCTAGTTTGTATAG -3'
(R):5'- ACACTGGATCATTCTTCACATAAC -3'

Posted On

2017-12-01