Mutagenetix > Incidental Mutation

Incidental Mutation 'R5966:Ces1e'

472104

Institutional Source

Beutler Lab

Gene Symbol

Ces1e

Ensembl Gene

ENSMUSG00000061959

Gene Name

carboxylesterase 1E

Synonyms

Es22, egasyn, Eg, Es-22

MMRRC Submission

044151-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5966 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93927846-93956233 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 93946001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034173] [ENSMUST00000176282] [ENSMUST00000176282]

AlphaFold

Q64176

Predicted Effect

probably null
Transcript: ENSMUST00000034173

SMART Domains

Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	546	1.7e-174	PFAM
Pfam:Abhydrolase_3	137	282	5.2e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175983

Predicted Effect

probably null
Transcript: ENSMUST00000176282

SMART Domains

Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	8.9e-166	PFAM
Pfam:Abhydrolase_3	136	292	2.7e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000176282

SMART Domains

Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	8.9e-166	PFAM
Pfam:Abhydrolase_3	136	292	2.7e-10	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.5%

Validation Efficiency

94% (79/84)

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous mutation lack stable microsomal beta-glucuronidase and display altered processing of lysosomal beta-glucuronidase in liver. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930009A15Rik	A	T	10: 115,415,717 (GRCm39)		probably benign	Het
Acaa2	T	C	18: 74,937,223 (GRCm39)	L369S	probably damaging	Het
Akna	A	G	4: 63,313,140 (GRCm39)	S328P	probably damaging	Het
Albfm1	A	G	5: 90,719,546 (GRCm39)	Y214C	probably damaging	Het
Apc	A	G	18: 34,354,140 (GRCm39)		probably benign	Het
Brca2	C	T	5: 150,466,716 (GRCm39)	T2160I	probably damaging	Het
Camsap2	A	G	1: 136,204,330 (GRCm39)	S1251P	probably damaging	Het
Ccdc110	A	G	8: 46,395,573 (GRCm39)	E488G	probably damaging	Het
Ccdc158	T	A	5: 92,797,908 (GRCm39)	I411F	probably damaging	Het
Cd163	C	T	6: 124,297,595 (GRCm39)	Q914*	probably null	Het
Cd22	T	C	7: 30,566,083 (GRCm39)	D827G	probably damaging	Het
Col14a1	T	C	15: 55,315,779 (GRCm39)		probably null	Het
Csmd3	T	A	15: 47,713,135 (GRCm39)	D1509V	probably damaging	Het
Ddx51	A	G	5: 110,804,717 (GRCm39)	D543G	probably damaging	Het
Diaph3	T	A	14: 87,222,261 (GRCm39)	I408F	probably damaging	Het
Dld	G	A	12: 31,390,325 (GRCm39)	P213L	probably damaging	Het
Dnah6	T	C	6: 73,037,262 (GRCm39)	T3327A	probably benign	Het
Dnttip2	T	A	3: 122,078,817 (GRCm39)		probably benign	Het
Dock10	T	C	1: 80,546,225 (GRCm39)	E791G	possibly damaging	Het
Ehd3	G	T	17: 74,134,356 (GRCm39)	W238C	probably damaging	Het
Ehd3	T	G	17: 74,134,361 (GRCm39)	L240R	probably damaging	Het
Ep400	A	G	5: 110,824,766 (GRCm39)	V2357A	unknown	Het
Fam20c	T	C	5: 138,741,932 (GRCm39)	V181A	probably damaging	Het
Gm4781	T	C	10: 100,232,814 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,058 (GRCm39)	S827T	unknown	Het
Grm3	A	T	5: 9,561,930 (GRCm39)	I640N	probably damaging	Het
Gstm7	A	G	3: 107,838,747 (GRCm39)		probably benign	Het
Hdac7	G	T	15: 97,700,372 (GRCm39)	H572Q	probably damaging	Het
Ift140	C	T	17: 25,313,735 (GRCm39)	Q1389*	probably null	Het
Igfn1	A	G	1: 135,893,152 (GRCm39)	V2099A	probably damaging	Het
Ik	A	G	18: 36,888,531 (GRCm39)	N443S	possibly damaging	Het
Impact	A	G	18: 13,123,601 (GRCm39)	K315E	probably benign	Het
Insr	C	A	8: 3,308,697 (GRCm39)	R113L	probably benign	Het
Jak2	T	A	19: 29,260,954 (GRCm39)	Y317N	possibly damaging	Het
Kif18a	T	A	2: 109,122,411 (GRCm39)	V162E	probably damaging	Het
L3mbtl3	A	G	10: 26,207,762 (GRCm39)	V319A	unknown	Het
Lepr	T	C	4: 101,649,324 (GRCm39)		probably benign	Het
Lmo7	C	T	14: 102,137,938 (GRCm39)	T647I	possibly damaging	Het
Mindy3	C	T	2: 12,405,854 (GRCm39)	R147Q	probably benign	Het
Mtr	T	C	13: 12,230,453 (GRCm39)		probably null	Het
Muc4	A	T	16: 32,576,652 (GRCm39)		probably benign	Het
Nrip1	G	A	16: 76,090,471 (GRCm39)	T362M	possibly damaging	Het
Or1j17	G	T	2: 36,578,074 (GRCm39)	R20L	probably null	Het
Or1q1	T	C	2: 36,886,957 (GRCm39)	I45T	possibly damaging	Het
Or5d45	A	G	2: 88,153,222 (GRCm39)	S276P	probably benign	Het
Ovol1	G	A	19: 5,601,630 (GRCm39)	R131C	probably damaging	Het
Pcca	T	C	14: 122,905,998 (GRCm39)	V323A	probably damaging	Het
Pcdhb14	A	T	18: 37,581,295 (GRCm39)	M134L	probably benign	Het
Pecam1	G	A	11: 106,581,887 (GRCm39)	T252M	probably benign	Het
Rnd3	T	A	2: 51,022,536 (GRCm39)	I169F	probably damaging	Het
Rnmt	T	A	18: 68,444,689 (GRCm39)	D219E	probably benign	Het
Rufy1	A	T	11: 50,292,315 (GRCm39)	F491L	probably benign	Het
Ryr2	G	T	13: 11,677,124 (GRCm39)	C3242*	probably null	Het
Smurf2	G	T	11: 106,766,727 (GRCm39)	R31S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,873 (GRCm39)	I1333T	probably damaging	Het
Stard9	G	A	2: 120,527,580 (GRCm39)	C1279Y	probably damaging	Het
Sugp2	T	C	8: 70,704,753 (GRCm39)		probably null	Het
Sulf1	A	T	1: 12,929,636 (GRCm39)	D301V	probably benign	Het
Tbcd	G	T	11: 121,492,737 (GRCm39)		probably benign	Het
Tlr11	T	C	14: 50,599,712 (GRCm39)	I566T	probably benign	Het
Tm9sf2	T	A	14: 122,374,921 (GRCm39)		probably benign	Het
Tnfaip8l1	T	C	17: 56,478,799 (GRCm39)	F30L	probably benign	Het
Trav15-2-dv6-2	T	A	14: 53,887,433 (GRCm39)	C118S	probably damaging	Het
Ttc13	A	G	8: 125,408,959 (GRCm39)		probably benign	Het
Ubqln3	A	T	7: 103,790,906 (GRCm39)	S395T	probably benign	Het
Urb2	A	G	8: 124,754,827 (GRCm39)	D178G	probably benign	Het
Usf3	A	G	16: 44,041,222 (GRCm39)	I1901V	probably benign	Het
Vmn1r173	A	T	7: 23,402,112 (GRCm39)	I116F	probably benign	Het
Vmn1r69	T	A	7: 10,314,717 (GRCm39)	T5S	probably benign	Het
Wbp1l	C	T	19: 46,642,619 (GRCm39)	R191*	probably null	Het
Wfikkn2	C	T	11: 94,129,688 (GRCm39)	R151H	probably damaging	Het

Other mutations in Ces1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00900:Ces1e	APN	8	93,944,245 (GRCm39)	missense	probably damaging	0.98
IGL01358:Ces1e	APN	8	93,940,778 (GRCm39)	missense	probably damaging	0.99
IGL01597:Ces1e	APN	8	93,937,001 (GRCm39)	missense	probably benign	0.01
IGL01875:Ces1e	APN	8	93,950,524 (GRCm39)	missense	probably benign	0.03
IGL02244:Ces1e	APN	8	93,938,977 (GRCm39)	splice site	probably null
IGL03260:Ces1e	APN	8	93,950,545 (GRCm39)	missense	probably benign	0.00
IGL03302:Ces1e	APN	8	93,950,521 (GRCm39)	critical splice donor site	probably null
chaingun	UTSW	8	93,950,586 (GRCm39)	missense	probably damaging	1.00
Chomper	UTSW	8	93,928,467 (GRCm39)	critical splice donor site	probably null
PIT4651001:Ces1e	UTSW	8	93,941,711 (GRCm39)	missense	probably benign	0.00
R0158:Ces1e	UTSW	8	93,946,057 (GRCm39)	missense	probably benign	0.09
R0317:Ces1e	UTSW	8	93,950,667 (GRCm39)	missense	probably benign	0.03
R0530:Ces1e	UTSW	8	93,946,149 (GRCm39)	splice site	probably benign
R0626:Ces1e	UTSW	8	93,950,671 (GRCm39)	missense	probably benign	0.01
R3013:Ces1e	UTSW	8	93,929,915 (GRCm39)	missense	probably benign	0.26
R3815:Ces1e	UTSW	8	93,928,467 (GRCm39)	critical splice donor site	probably null
R4810:Ces1e	UTSW	8	93,935,259 (GRCm39)	missense	probably benign	0.00
R4883:Ces1e	UTSW	8	93,950,716 (GRCm39)	missense	probably benign	0.07
R5155:Ces1e	UTSW	8	93,928,034 (GRCm39)	makesense	probably null
R5262:Ces1e	UTSW	8	93,950,586 (GRCm39)	missense	probably damaging	1.00
R5287:Ces1e	UTSW	8	93,935,240 (GRCm39)	missense	probably benign	0.00
R5403:Ces1e	UTSW	8	93,935,240 (GRCm39)	missense	probably benign	0.00
R5410:Ces1e	UTSW	8	93,937,070 (GRCm39)	missense	possibly damaging	0.94
R5813:Ces1e	UTSW	8	93,948,305 (GRCm39)	nonsense	probably null
R5891:Ces1e	UTSW	8	93,929,894 (GRCm39)	missense	possibly damaging	0.93
R6199:Ces1e	UTSW	8	93,944,163 (GRCm39)	missense	probably damaging	1.00
R6381:Ces1e	UTSW	8	93,944,206 (GRCm39)	missense	probably damaging	1.00
R6620:Ces1e	UTSW	8	93,950,546 (GRCm39)	missense	probably damaging	1.00
R6753:Ces1e	UTSW	8	93,941,756 (GRCm39)	missense	probably damaging	0.96
R7180:Ces1e	UTSW	8	93,941,772 (GRCm39)	missense	probably damaging	1.00
R7393:Ces1e	UTSW	8	93,937,045 (GRCm39)	missense	probably benign	0.31
R7421:Ces1e	UTSW	8	93,941,703 (GRCm39)	missense	probably benign	0.00
R8296:Ces1e	UTSW	8	93,929,947 (GRCm39)	missense	probably benign	0.11
R8901:Ces1e	UTSW	8	93,937,103 (GRCm39)	missense	probably damaging	1.00
R9766:Ces1e	UTSW	8	93,946,031 (GRCm39)	missense	probably damaging	1.00
X0014:Ces1e	UTSW	8	93,929,903 (GRCm39)	missense	probably damaging	1.00
Z1088:Ces1e	UTSW	8	93,937,046 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCTGCATCCTGAAGATTCCG -3'
(R):5'- CAGGGGAGCTTTCTGATGATC -3'

Sequencing Primer
(F):5'- TTGATCTCAATATGAGGGCCCAC -3'
(R):5'- CTGATGATCTGTGTTGCTGCATC -3'

Posted On

2017-03-31