Mutagenetix > Incidental Mutation

Incidental Mutation 'R7421:Ces1e'

575663

Institutional Source

Beutler Lab

Gene Symbol

Ces1e

Ensembl Gene

ENSMUSG00000061959

Gene Name

carboxylesterase 1E

Synonyms

Es22, egasyn, Eg, Es-22

MMRRC Submission

045499-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7421 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93927846-93956233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93941703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 257 (V257I)

Ref Sequence

ENSEMBL: ENSMUSP00000034173 (fasta)

Gene Model

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

AlphaFold

Q64176

Predicted Effect

probably benign
Transcript: ENSMUST00000034173
AA Change: V257I

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

SMART Domains

Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959
AA Change: V257I

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

probably benign
Transcript: ENSMUST00000176282
AA Change: V256I

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

SMART Domains

Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959
AA Change: V256I

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

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aar2	T	C	2: 156,397,915 (GRCm39)	I309T	possibly damaging	Het
Abca12	A	C	1: 71,286,295 (GRCm39)	L2513*	probably null	Het
Abca13	G	C	11: 9,460,463 (GRCm39)	V4158L	probably benign	Het
Acaca	A	G	11: 84,254,562 (GRCm39)	T1880A	possibly damaging	Het
Arhgap5	C	T	12: 52,564,783 (GRCm39)	R585C	probably benign	Het
Arsk	A	C	13: 76,210,634 (GRCm39)	I471S	possibly damaging	Het
Asb7	T	C	7: 66,309,868 (GRCm39)	D116G	probably damaging	Het
Atad2	A	G	15: 57,998,322 (GRCm39)	S17P	probably benign	Het
Atf5	T	C	7: 44,464,562 (GRCm39)	E10G	probably damaging	Het
B3gntl1	G	T	11: 121,515,004 (GRCm39)	P255T	probably benign	Het
Cacna1s	A	G	1: 136,014,540 (GRCm39)	N649S	probably damaging	Het
Ccnc	A	G	4: 21,743,291 (GRCm39)	Y192C	probably damaging	Het
Cd28	A	G	1: 60,802,459 (GRCm39)	N126S	probably benign	Het
Cep57	A	G	9: 13,721,969 (GRCm39)	S360P	possibly damaging	Het
Chd1	A	G	17: 15,969,660 (GRCm39)	K913R	probably benign	Het
Cluap1	A	T	16: 3,758,657 (GRCm39)	D373V	probably damaging	Het
Cnmd	T	C	14: 79,882,947 (GRCm39)	I160V	probably benign	Het
Col6a4	G	A	9: 105,897,994 (GRCm39)	P1686S	probably damaging	Het
Coro7	G	T	16: 4,486,615 (GRCm39)	A186E	probably benign	Het
Cuta	T	C	17: 27,158,431 (GRCm39)		probably benign	Het
Dnah2	G	A	11: 69,383,631 (GRCm39)	H1098Y	probably benign	Het
Duox1	T	A	2: 122,153,711 (GRCm39)	C345S	probably damaging	Het
Ephb4	T	A	5: 137,352,687 (GRCm39)	I90K	possibly damaging	Het
Erich3	T	A	3: 154,439,198 (GRCm39)	M280K	probably damaging	Het
Fcer2a	T	A	8: 3,740,335 (GRCm39)	H4L	probably benign	Het
Grk1	A	T	8: 13,455,316 (GRCm39)	I67F	probably damaging	Het
Grm8	A	C	6: 27,762,476 (GRCm39)	S250A	possibly damaging	Het
H2-Q6	A	G	17: 35,644,204 (GRCm39)	E62G	possibly damaging	Het
Inppl1	C	T	7: 101,482,144 (GRCm39)	R144H	probably damaging	Het
Itga3	G	T	11: 94,959,681 (GRCm39)	P33Q	probably benign	Het
Itgax	G	A	7: 127,739,604 (GRCm39)	S672N	probably damaging	Het
Itpk1	A	T	12: 102,540,324 (GRCm39)	V253E	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Mrps7	T	C	11: 115,495,717 (GRCm39)	V85A	probably benign	Het
Muc2	T	C	7: 141,301,863 (GRCm39)	L427P		Het
Myef2	G	T	2: 124,952,537 (GRCm39)	Q185K	probably benign	Het
Or1e1b-ps1	G	T	11: 73,846,335 (GRCm39)	C273F	unknown	Het
Or4a76	T	A	2: 89,460,915 (GRCm39)	D109V	probably damaging	Het
Pcdh15	G	A	10: 74,289,897 (GRCm39)	M905I	possibly damaging	Het
Pgm5	C	T	19: 24,686,663 (GRCm39)	V515M	probably benign	Het
Pik3r1	A	G	13: 101,825,644 (GRCm39)	I381T	probably damaging	Het
Pla2g4f	A	G	2: 120,137,737 (GRCm39)	M341T	probably benign	Het
Prmt2	A	G	10: 76,056,912 (GRCm39)	F204L	probably benign	Het
Pwwp3a	T	A	10: 80,068,587 (GRCm39)	S244T	probably benign	Het
Rasa2	A	G	9: 96,493,500 (GRCm39)	V50A	unknown	Het
Scn7a	A	C	2: 66,505,876 (GRCm39)	I1671S	probably benign	Het
Sco2	G	A	15: 89,255,923 (GRCm39)	R244C	possibly damaging	Het
Skic3	A	T	13: 76,296,944 (GRCm39)	K1100N	probably benign	Het
Slfn1	A	G	11: 83,011,967 (GRCm39)	M28V	possibly damaging	Het
Slfn9	A	T	11: 82,872,197 (GRCm39)	C846*	probably null	Het
Slfn9	A	G	11: 82,878,562 (GRCm39)	I189T	probably damaging	Het
Svil	T	A	18: 5,056,109 (GRCm39)	S327R	probably benign	Het
Tcaf3	A	T	6: 42,573,776 (GRCm39)	N145K	probably benign	Het
Trarg1	G	A	11: 76,585,051 (GRCm39)	R147Q	unknown	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Upp2	G	T	2: 58,661,586 (GRCm39)	V130F	possibly damaging	Het
Vnn3	G	A	10: 23,741,666 (GRCm39)	A324T	probably benign	Het
Wasf2	A	G	4: 132,912,412 (GRCm39)	E88G	unknown	Het
Zfp39	A	T	11: 58,780,933 (GRCm39)	C610S	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
R5966:Ces1e	UTSW	8	93,946,001 (GRCm39)	critical splice donor site	probably null
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
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'- TGCTTGCTGCCATATCGAAAC -3'
(R):5'- TCAAGGTGATCAAACAGAGTCC -3'

Sequencing Primer
(F):5'- GCTGCCATATCGAAACTTGTACTGAG -3'
(R):5'- AGAGTCCAAACGCTGGTCC -3'

Posted On

2019-10-07