Mutagenetix > Incidental Mutation

Incidental Mutation 'R8728:Ces1b'

662579

Institutional Source

Beutler Lab

Gene Symbol

Ces1b

Ensembl Gene

ENSMUSG00000078964

Gene Name

carboxylesterase 1B

Synonyms

Gm5158

MMRRC Submission

068576-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8728 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93783356-93806645 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93798576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 203 (D203E)

Ref Sequence

ENSEMBL: ENSMUSP00000105210 (fasta)

Gene Model

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

AlphaFold

D3Z5G7

Predicted Effect

probably benign
Transcript: ENSMUST00000109582
AA Change: D203E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: D203E

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	G	14: 66,295,086 (GRCm39)	L253P	probably damaging	Het
Adamts20	C	T	15: 94,229,281 (GRCm39)	G946D	probably benign	Het
Afdn	A	G	17: 14,119,207 (GRCm39)	R1648G	probably damaging	Het
Ak9	G	A	10: 41,282,959 (GRCm39)	A1242T		Het
Anxa9	T	C	3: 95,209,979 (GRCm39)	K127E	probably damaging	Het
Atp6v0a2	T	C	5: 124,796,152 (GRCm39)	S739P	probably benign	Het
Bloc1s6	A	T	2: 122,588,026 (GRCm39)	M122L	possibly damaging	Het
Bltp3b	A	T	10: 89,618,582 (GRCm39)	M274L	probably benign	Het
Bms1	A	G	6: 118,369,331 (GRCm39)	I990T	possibly damaging	Het
Ccdc9b	T	C	2: 118,587,793 (GRCm39)	T514A	probably benign	Het
Cdk14	G	A	5: 5,470,117 (GRCm39)		silent	Het
Celsr3	T	C	9: 108,723,940 (GRCm39)	L2899S	probably benign	Het
Cnnm1	A	G	19: 43,473,365 (GRCm39)	N753S	probably benign	Het
Col19a1	C	T	1: 24,365,113 (GRCm39)	G501R	probably damaging	Het
Cym	A	G	3: 107,125,991 (GRCm39)	F91L	possibly damaging	Het
Cyp2c67	T	G	19: 39,614,605 (GRCm39)	R307S	probably damaging	Het
Cyp3a59	G	A	5: 146,035,122 (GRCm39)		probably null	Het
Cyp4a31	G	A	4: 115,422,225 (GRCm39)	E70K	probably benign	Het
Dagla	G	A	19: 10,225,771 (GRCm39)	R798C	probably damaging	Het
Dcaf1	C	T	9: 106,724,005 (GRCm39)	R478C	possibly damaging	Het
Dcbld1	T	C	10: 52,109,929 (GRCm39)	L28P	probably benign	Het
Ddr2	T	C	1: 169,829,552 (GRCm39)	D234G	possibly damaging	Het
Fam83a	T	A	15: 57,873,062 (GRCm39)	M297K	possibly damaging	Het
Galnt18	T	A	7: 111,119,243 (GRCm39)	D426V	probably damaging	Het
Gm29735	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA	7: 141,710,266 (GRCm39)		probably benign	Het
Gm43302	T	C	5: 105,438,793 (GRCm39)	I32V	probably benign	Het
Gm9944	T	C	4: 144,179,601 (GRCm39)	Y96C	unknown	Het
Hdac1-ps	A	G	17: 78,800,332 (GRCm39)	K441R	probably benign	Het
Impdh2	C	T	9: 108,437,562 (GRCm39)		probably benign	Het
Iws1	G	A	18: 32,216,334 (GRCm39)	R358Q	probably damaging	Het
Kctd18	G	T	1: 58,002,289 (GRCm39)	D179E	probably damaging	Het
Krt13	T	G	11: 100,012,318 (GRCm39)	S2R	probably null	Het
Krt78	A	T	15: 101,856,225 (GRCm39)	S529T	probably benign	Het
Krtap4-7	C	G	11: 99,534,788 (GRCm39)	C25S	unknown	Het
Lama1	T	C	17: 68,125,663 (GRCm39)	I2940T		Het
Lmnb2	A	G	10: 80,740,913 (GRCm39)		probably null	Het
Lrrc27	A	T	7: 138,822,555 (GRCm39)	E482V	probably damaging	Het
Lrrc72	G	A	12: 36,258,656 (GRCm39)	T67M	probably benign	Het
Malrd1	T	A	2: 15,701,753 (GRCm39)	C789*	probably null	Het
Mei1	T	G	15: 81,966,182 (GRCm39)	V268G		Het
Mical3	C	A	6: 120,950,514 (GRCm39)	A966S	probably damaging	Het
Mmp10	C	T	9: 7,502,480 (GRCm39)	P29L	probably benign	Het
Mroh2b	T	C	15: 4,935,122 (GRCm39)	F186L	probably damaging	Het
Muc4	A	T	16: 32,754,952 (GRCm38)	T1609S	unknown	Het
Myrfl	A	T	10: 116,634,545 (GRCm39)	C616*	probably null	Het
Ncor1	C	T	11: 62,221,685 (GRCm39)	A946T	probably benign	Het
Or10al6	C	A	17: 38,082,642 (GRCm39)	L33M	probably damaging	Het
Or2t48	T	C	11: 58,420,027 (GRCm39)	T262A	probably benign	Het
Pbp2	T	C	6: 135,287,104 (GRCm39)	Y81C	probably benign	Het
Plekhh1	C	A	12: 79,115,862 (GRCm39)	Q802K	possibly damaging	Het
Pnldc1	A	T	17: 13,116,165 (GRCm39)	F279Y	probably damaging	Het
Psmb5	A	T	14: 54,855,261 (GRCm39)	L63Q	probably damaging	Het
Rasa3	C	T	8: 13,636,873 (GRCm39)		probably null	Het
Rbm4b	G	A	19: 4,812,219 (GRCm39)	M209I	probably benign	Het
Rnf38	A	G	4: 44,131,615 (GRCm39)	S421P	probably benign	Het
Sema5a	T	C	15: 32,562,703 (GRCm39)	V238A	probably damaging	Het
Sesn1	G	T	10: 41,779,771 (GRCm39)	G402W	probably damaging	Het
Six4	A	G	12: 73,159,180 (GRCm39)	V260A	probably benign	Het
Srrm2	G	A	17: 24,038,831 (GRCm39)	R1825Q	unknown	Het
Stat1	G	A	1: 52,178,353 (GRCm39)	W262*	probably null	Het
Tcf20	A	T	15: 82,739,158 (GRCm39)	D764E	probably damaging	Het
Tgm2	T	C	2: 157,962,065 (GRCm39)	N585D	probably benign	Het
Tmf1	A	T	6: 97,133,821 (GRCm39)	L1039H	probably damaging	Het
Trak2	A	G	1: 58,974,934 (GRCm39)	V86A	probably benign	Het
Ttc39b	A	G	4: 83,171,247 (GRCm39)	I202T	probably damaging	Het
Vmn1r30	A	G	6: 58,412,460 (GRCm39)	F124S	probably benign	Het
Vwa7	T	A	17: 35,236,133 (GRCm39)	F29Y	probably damaging	Het
Wdr64	A	T	1: 175,559,079 (GRCm39)	M281L	probably benign	Het
Zfand2a	C	T	5: 139,467,753 (GRCm39)	V40M	possibly damaging	Het
Zfp865	G	C	7: 5,034,819 (GRCm39)	A935P	probably damaging	Het

Other mutations in Ces1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Ces1b	APN	8	93,798,622 (GRCm39)	missense	probably damaging	0.98
IGL01939:Ces1b	APN	8	93,806,059 (GRCm39)	missense	probably damaging	1.00
IGL02314:Ces1b	APN	8	93,791,524 (GRCm39)	missense	possibly damaging	0.95
IGL02338:Ces1b	APN	8	93,783,675 (GRCm39)	missense	possibly damaging	0.77
IGL02647:Ces1b	APN	8	93,783,672 (GRCm39)	missense	probably benign	0.00
IGL02833:Ces1b	APN	8	93,806,038 (GRCm39)	missense	probably damaging	1.00
IGL03038:Ces1b	APN	8	93,793,680 (GRCm39)	missense	probably benign
IGL03149:Ces1b	APN	8	93,791,502 (GRCm39)	splice site	probably benign
FR4548:Ces1b	UTSW	8	93,794,720 (GRCm39)	missense	probably null
IGL02802:Ces1b	UTSW	8	93,783,594 (GRCm39)	missense	possibly damaging	0.64
R0382:Ces1b	UTSW	8	93,802,680 (GRCm39)	splice site	probably benign
R0893:Ces1b	UTSW	8	93,806,056 (GRCm39)	missense	probably benign	0.11
R0959:Ces1b	UTSW	8	93,794,775 (GRCm39)	missense	probably damaging	1.00
R1386:Ces1b	UTSW	8	93,794,705 (GRCm39)	missense	probably benign	0.02
R1440:Ces1b	UTSW	8	93,794,736 (GRCm39)	missense	probably damaging	0.97
R1667:Ces1b	UTSW	8	93,783,532 (GRCm39)	missense	possibly damaging	0.75
R2113:Ces1b	UTSW	8	93,794,783 (GRCm39)	missense	probably benign
R2193:Ces1b	UTSW	8	93,806,505 (GRCm39)	missense	probably benign	0.00
R2508:Ces1b	UTSW	8	93,799,969 (GRCm39)	missense	possibly damaging	0.75
R4656:Ces1b	UTSW	8	93,784,042 (GRCm39)	missense	probably damaging	0.96
R4776:Ces1b	UTSW	8	93,789,658 (GRCm39)	missense	possibly damaging	0.92
R5108:Ces1b	UTSW	8	93,798,541 (GRCm39)	missense	probably damaging	1.00
R5117:Ces1b	UTSW	8	93,799,837 (GRCm39)	critical splice donor site	probably null
R5308:Ces1b	UTSW	8	93,793,645 (GRCm39)	missense	probably benign	0.00
R5381:Ces1b	UTSW	8	93,791,647 (GRCm39)	missense	probably benign	0.02
R5392:Ces1b	UTSW	8	93,798,590 (GRCm39)	missense	probably damaging	0.98
R5614:Ces1b	UTSW	8	93,794,836 (GRCm39)	missense	probably benign	0.00
R5816:Ces1b	UTSW	8	93,799,890 (GRCm39)	missense	probably benign	0.05
R6554:Ces1b	UTSW	8	93,791,619 (GRCm39)	missense	probably benign	0.03
R6576:Ces1b	UTSW	8	93,783,547 (GRCm39)	missense	probably benign	0.06
R6601:Ces1b	UTSW	8	93,806,109 (GRCm39)	missense	probably benign
R6662:Ces1b	UTSW	8	93,790,697 (GRCm39)	missense	probably benign	0.33
R6753:Ces1b	UTSW	8	93,793,648 (GRCm39)	nonsense	probably null
R6904:Ces1b	UTSW	8	93,787,038 (GRCm39)	missense	probably damaging	0.96
R7267:Ces1b	UTSW	8	93,806,132 (GRCm39)	missense	possibly damaging	0.58
R7371:Ces1b	UTSW	8	93,783,982 (GRCm39)	critical splice donor site	probably null
R7396:Ces1b	UTSW	8	93,789,757 (GRCm39)	missense	probably benign	0.00
R7992:Ces1b	UTSW	8	93,786,987 (GRCm39)	missense	probably benign	0.34
R8022:Ces1b	UTSW	8	93,795,943 (GRCm39)	critical splice donor site	probably null
R8809:Ces1b	UTSW	8	93,786,949 (GRCm39)	missense	probably damaging	1.00
R8809:Ces1b	UTSW	8	93,786,948 (GRCm39)	missense	probably damaging	1.00
R9268:Ces1b	UTSW	8	93,798,583 (GRCm39)	missense	probably damaging	1.00
R9476:Ces1b	UTSW	8	93,799,890 (GRCm39)	missense	probably damaging	0.97
R9638:Ces1b	UTSW	8	93,806,534 (GRCm39)	missense	probably benign
R9667:Ces1b	UTSW	8	93,791,637 (GRCm39)	missense	probably benign	0.02
R9745:Ces1b	UTSW	8	93,790,625 (GRCm39)	missense	probably benign
R9757:Ces1b	UTSW	8	93,806,501 (GRCm39)	missense	probably benign	0.02
X0024:Ces1b	UTSW	8	93,789,645 (GRCm39)	missense	probably benign
Z1088:Ces1b	UTSW	8	93,791,594 (GRCm39)	missense	probably damaging	0.96
Z1177:Ces1b	UTSW	8	93,802,782 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAAACATGTTGTGCTGGATTG -3'
(R):5'- ACATGCAAATTCCCTCCAGTG -3'

Sequencing Primer
(F):5'- GCTGGATTGACTGTGTTCTAAC -3'
(R):5'- AAATTCCCTCCAGTGCTGTGATG -3'

Posted On

2021-03-08