Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Ces1b'

617457

Institutional Source

Beutler Lab

Gene Symbol

Ces1b

Ensembl Gene

ENSMUSG00000078964

Gene Name

carboxylesterase 1B

Synonyms

Gm5158

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93056728-93080017 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 93069315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105210 (fasta)

Gene Model

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

AlphaFold

D3Z5G7

Predicted Effect

probably null
Transcript: ENSMUST00000109582

SMART Domains

Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854 (GRCm38)	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236 (GRCm38)	S296A	unknown	Het
Ambp	G	T	4: 63,144,197 (GRCm38)	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593 (GRCm38)	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735 (GRCm38)	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149 (GRCm38)		probably null	Het
Aspa	A	C	11: 73,322,206 (GRCm38)	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174 (GRCm38)	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779 (GRCm38)	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404 (GRCm38)	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806 (GRCm38)	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301 (GRCm38)	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108 (GRCm38)	S247T	probably benign	Het
Chd7	T	A	4: 8,751,605 (GRCm38)	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766 (GRCm38)	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803 (GRCm38)	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555 (GRCm38)	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566 (GRCm38)	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402 (GRCm38)	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766 (GRCm38)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114 (GRCm38)	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577 (GRCm38)	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668 (GRCm38)	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014 (GRCm38)	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530 (GRCm38)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330 (GRCm38)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820 (GRCm38)	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308 (GRCm38)	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm38)	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344 (GRCm38)	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591 (GRCm38)	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520 (GRCm38)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720 (GRCm38)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376 (GRCm38)	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446 (GRCm38)	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970 (GRCm38)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795 (GRCm38)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873 (GRCm38)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703 (GRCm38)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239 (GRCm38)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680 (GRCm38)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557 (GRCm38)	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299 (GRCm38)	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561 (GRCm38)	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365 (GRCm38)	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613 (GRCm38)	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767 (GRCm38)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272 (GRCm38)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892 (GRCm38)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794 (GRCm38)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287 (GRCm38)	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061 (GRCm38)	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510 (GRCm38)	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966 (GRCm38)	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785 (GRCm38)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293 (GRCm38)	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776 (GRCm38)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861 (GRCm38)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479 (GRCm38)	R46G		Het
Rrbp1	C	A	2: 143,956,792 (GRCm38)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232 (GRCm38)	T676S	probably benign	Het
Setdb1	T	A	3: 95,347,085 (GRCm38)	D195V	probably damaging	Het
Setdb1	A	T	3: 95,338,599 (GRCm38)	F672I	probably damaging	Het
Slc12a8	A	G	16: 33,625,086 (GRCm38)	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276 (GRCm38)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189 (GRCm38)	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277 (GRCm38)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309 (GRCm38)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854 (GRCm38)	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340 (GRCm38)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765 (GRCm38)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101 (GRCm38)	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376 (GRCm38)	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062 (GRCm38)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447 (GRCm38)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827 (GRCm38)	Q57*	probably null	Het
Trio	C	G	15: 27,749,866 (GRCm38)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043 (GRCm38)	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471 (GRCm38)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504 (GRCm38)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338 (GRCm38)	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254 (GRCm38)	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020 (GRCm38)	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068 (GRCm38)	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924 (GRCm38)	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098 (GRCm38)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568 (GRCm38)		probably null	Het

Other mutations in Ces1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Ces1b	APN	8	93,071,994 (GRCm38)	missense	probably damaging	0.98
IGL01939:Ces1b	APN	8	93,079,431 (GRCm38)	missense	probably damaging	1.00
IGL02314:Ces1b	APN	8	93,064,896 (GRCm38)	missense	possibly damaging	0.95
IGL02338:Ces1b	APN	8	93,057,047 (GRCm38)	missense	possibly damaging	0.77
IGL02647:Ces1b	APN	8	93,057,044 (GRCm38)	missense	probably benign	0.00
IGL02833:Ces1b	APN	8	93,079,410 (GRCm38)	missense	probably damaging	1.00
IGL03038:Ces1b	APN	8	93,067,052 (GRCm38)	missense	probably benign
IGL03149:Ces1b	APN	8	93,064,874 (GRCm38)	splice site	probably benign
FR4548:Ces1b	UTSW	8	93,068,092 (GRCm38)	missense	probably null
IGL02802:Ces1b	UTSW	8	93,056,966 (GRCm38)	missense	possibly damaging	0.64
R0382:Ces1b	UTSW	8	93,076,052 (GRCm38)	splice site	probably benign
R0893:Ces1b	UTSW	8	93,079,428 (GRCm38)	missense	probably benign	0.11
R0959:Ces1b	UTSW	8	93,068,147 (GRCm38)	missense	probably damaging	1.00
R1386:Ces1b	UTSW	8	93,068,077 (GRCm38)	missense	probably benign	0.02
R1440:Ces1b	UTSW	8	93,068,108 (GRCm38)	missense	probably damaging	0.97
R1667:Ces1b	UTSW	8	93,056,904 (GRCm38)	missense	possibly damaging	0.75
R2113:Ces1b	UTSW	8	93,068,155 (GRCm38)	missense	probably benign
R2193:Ces1b	UTSW	8	93,079,877 (GRCm38)	missense	probably benign	0.00
R2508:Ces1b	UTSW	8	93,073,341 (GRCm38)	missense	possibly damaging	0.75
R4656:Ces1b	UTSW	8	93,057,414 (GRCm38)	missense	probably damaging	0.96
R4776:Ces1b	UTSW	8	93,063,030 (GRCm38)	missense	possibly damaging	0.92
R5108:Ces1b	UTSW	8	93,071,913 (GRCm38)	missense	probably damaging	1.00
R5117:Ces1b	UTSW	8	93,073,209 (GRCm38)	critical splice donor site	probably null
R5308:Ces1b	UTSW	8	93,067,017 (GRCm38)	missense	probably benign	0.00
R5381:Ces1b	UTSW	8	93,065,019 (GRCm38)	missense	probably benign	0.02
R5392:Ces1b	UTSW	8	93,071,962 (GRCm38)	missense	probably damaging	0.98
R5614:Ces1b	UTSW	8	93,068,208 (GRCm38)	missense	probably benign	0.00
R5816:Ces1b	UTSW	8	93,073,262 (GRCm38)	missense	probably benign	0.05
R6554:Ces1b	UTSW	8	93,064,991 (GRCm38)	missense	probably benign	0.03
R6576:Ces1b	UTSW	8	93,056,919 (GRCm38)	missense	probably benign	0.06
R6601:Ces1b	UTSW	8	93,079,481 (GRCm38)	missense	probably benign
R6662:Ces1b	UTSW	8	93,064,069 (GRCm38)	missense	probably benign	0.33
R6753:Ces1b	UTSW	8	93,067,020 (GRCm38)	nonsense	probably null
R6904:Ces1b	UTSW	8	93,060,410 (GRCm38)	missense	probably damaging	0.96
R7267:Ces1b	UTSW	8	93,079,504 (GRCm38)	missense	possibly damaging	0.58
R7371:Ces1b	UTSW	8	93,057,354 (GRCm38)	critical splice donor site	probably null
R7396:Ces1b	UTSW	8	93,063,129 (GRCm38)	missense	probably benign	0.00
R7992:Ces1b	UTSW	8	93,060,359 (GRCm38)	missense	probably benign	0.34
R8728:Ces1b	UTSW	8	93,071,948 (GRCm38)	missense	probably benign
R8809:Ces1b	UTSW	8	93,060,321 (GRCm38)	missense	probably damaging	1.00
R8809:Ces1b	UTSW	8	93,060,320 (GRCm38)	missense	probably damaging	1.00
R9268:Ces1b	UTSW	8	93,071,955 (GRCm38)	missense	probably damaging	1.00
R9476:Ces1b	UTSW	8	93,073,262 (GRCm38)	missense	probably damaging	0.97
R9638:Ces1b	UTSW	8	93,079,906 (GRCm38)	missense	probably benign
R9667:Ces1b	UTSW	8	93,065,009 (GRCm38)	missense	probably benign	0.02
R9745:Ces1b	UTSW	8	93,063,997 (GRCm38)	missense	probably benign
R9757:Ces1b	UTSW	8	93,079,873 (GRCm38)	missense	probably benign	0.02
X0024:Ces1b	UTSW	8	93,063,017 (GRCm38)	missense	probably benign
Z1088:Ces1b	UTSW	8	93,064,966 (GRCm38)	missense	probably damaging	0.96
Z1177:Ces1b	UTSW	8	93,076,154 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGTGAACCAAAAGGCAGTC -3'
(R):5'- GAATGCAGCTGCCATTAGAC -3'

Sequencing Primer
(F):5'- AGTCCTTCTGCCCAGCTAATTTTAC -3'
(R):5'- GAAATTCCCTCACAGCTGTGG -3'

Posted On

2020-01-23