Mutagenetix > Incidental Mutation

Incidental Mutation 'R6753:Ces1e'

530897

Institutional Source

Beutler Lab

Gene Symbol

Ces1e

Ensembl Gene

ENSMUSG00000061959

Gene Name

carboxylesterase 1E

Synonyms

Es22, egasyn, Eg, Es-22

MMRRC Submission

044870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93927846-93956233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93941756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 238 (N238I)

Ref Sequence

ENSEMBL: ENSMUSP00000135636 (fasta)

Gene Model

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

AlphaFold

Q64176

Predicted Effect

probably damaging
Transcript: ENSMUST00000034173
AA Change: N239I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959
AA Change: N239I

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 damaging
Transcript: ENSMUST00000176282
AA Change: N238I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959
AA Change: N238I

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 119,900,977 (GRCm39)	P1083S	probably benign	Het
Abcb5	T	A	12: 118,908,641 (GRCm39)	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,312,624 (GRCm39)	V67A	possibly damaging	Het
Agk	T	A	6: 40,345,504 (GRCm39)		probably null	Het
Akap10	A	T	11: 61,777,603 (GRCm39)	M586K	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Armc1	A	G	3: 19,198,562 (GRCm39)	F133L	possibly damaging	Het
Bank1	T	C	3: 135,799,069 (GRCm39)	E424G	probably damaging	Het
Cacna1a	A	G	8: 85,306,834 (GRCm39)	E1363G	probably damaging	Het
Cacna1d	C	A	14: 29,764,743 (GRCm39)	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,821,869 (GRCm39)	L606*	probably null	Het
Ccdc8	C	T	7: 16,730,562 (GRCm39)	Q684*	probably null	Het
Ces1b	T	A	8: 93,793,648 (GRCm39)	K314*	probably null	Het
Chd4	A	G	6: 125,091,263 (GRCm39)	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,949,611 (GRCm39)	D640E	probably damaging	Het
Col7a1	C	T	9: 108,787,196 (GRCm39)	T559I	unknown	Het
Comt	T	C	16: 18,226,771 (GRCm39)	K205R	probably benign	Het
Dbp	A	T	7: 45,357,828 (GRCm39)	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,276,493 (GRCm39)	T470A	possibly damaging	Het
Eml6	T	A	11: 29,704,987 (GRCm39)	D1519V	probably damaging	Het
Evpl	T	A	11: 116,128,732 (GRCm39)	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,711,186 (GRCm39)	I86N	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,889,503 (GRCm39)	S301P	probably benign	Het
Gas2l1	C	T	11: 5,014,254 (GRCm39)	V69I	probably damaging	Het
Gm2042	T	A	12: 87,924,854 (GRCm39)	I107K	probably damaging	Het
Gucy1b1	T	C	3: 81,947,054 (GRCm39)	D385G	probably null	Het
Ints1	T	A	5: 139,750,930 (GRCm39)	E824D	probably damaging	Het
Itfg1	T	C	8: 86,561,707 (GRCm39)	D142G	probably benign	Het
Jaml	A	G	9: 45,018,677 (GRCm39)	N359D	probably benign	Het
Kcnh7	T	A	2: 62,680,721 (GRCm39)	I289L	probably benign	Het
Klf12	G	A	14: 100,347,212 (GRCm39)	Q40*	probably null	Het
Mcm4	A	C	16: 15,447,226 (GRCm39)	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,917,358 (GRCm39)	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,764,208 (GRCm39)	V86M	probably damaging	Het
Mogs	T	C	6: 83,092,863 (GRCm39)	V101A	probably damaging	Het
Narf	T	A	11: 121,133,452 (GRCm39)	H84Q	probably benign	Het
Or5ak4	C	A	2: 85,162,142 (GRCm39)	M33I	probably benign	Het
Otog	A	C	7: 45,898,495 (GRCm39)	E204D	probably benign	Het
Parp8	G	A	13: 117,031,651 (GRCm39)	H354Y	possibly damaging	Het
Pcnx1	C	A	12: 82,011,254 (GRCm39)	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 110,351,081 (GRCm39)	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,453,059 (GRCm39)	E3995K	probably benign	Het
Prdm9	A	T	17: 15,765,218 (GRCm39)	Y521N	probably benign	Het
Prex2	A	G	1: 11,254,680 (GRCm39)	S1105G	probably damaging	Het
Prss35	T	A	9: 86,638,153 (GRCm39)	F308I	probably damaging	Het
Rab22a	C	T	2: 173,542,848 (GRCm39)	A167V	probably benign	Het
Rims2	A	G	15: 39,430,369 (GRCm39)	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,934,611 (GRCm39)	M253K	probably benign	Het
Ryr3	T	C	2: 112,482,955 (GRCm39)	D4269G	probably damaging	Het
Snx11	T	C	11: 96,660,732 (GRCm39)		probably benign	Het
Son	A	G	16: 91,454,076 (GRCm39)	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,797,813 (GRCm39)	R1880L	probably benign	Het
Sun1	G	A	5: 139,201,014 (GRCm39)		probably null	Het
Tprn	A	G	2: 25,154,050 (GRCm39)	R451G	probably benign	Het
Trbv30	T	A	6: 41,258,311 (GRCm39)	M1K	probably null	Het
Ttn	C	A	2: 76,568,565 (GRCm39)	G25697W	probably damaging	Het
Ubb	T	G	11: 62,442,353 (GRCm39)		probably null	Het
Unc13b	C	T	4: 43,239,331 (GRCm39)	R1038C	probably damaging	Het
Usp7	T	C	16: 8,514,775 (GRCm39)	M687V	probably benign	Het
Zfp160	G	A	17: 21,240,996 (GRCm39)	M21I	probably benign	Het
Zfp868	T	C	8: 70,064,747 (GRCm39)	N196S	probably benign	Het
Zup1	A	T	10: 33,804,025 (GRCm39)	I483N	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
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'- ACTTGGCCTAGTTGTGAGC -3'
(R):5'- ACTGAGGCAATCCCACATTG -3'

Sequencing Primer
(F):5'- GGCCTAGTTGTGAGCCCAAAAC -3'
(R):5'- CTGTGAGTGAGTCACTGA -3'

Posted On

2018-08-01