Mutagenetix > Incidental Mutation

Incidental Mutation 'R6275:Ces1h'

507583

Institutional Source

Beutler Lab

Gene Symbol

Ces1h

Ensembl Gene

ENSMUSG00000074156

Gene Name

carboxylesterase 1H

Synonyms

2310039D24Rik

MMRRC Submission

044445-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R6275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93351843-93379725 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93372646 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 93 (L93I)

Ref Sequence

ENSEMBL: ENSMUSP00000121729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000145041]

AlphaFold

D3Z298

Predicted Effect

probably benign
Transcript: ENSMUST00000145041
AA Change: L93I

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121729
Gene: ENSMUSG00000074156
AA Change: L93I

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	289	2.4e-56	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212027

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.4%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,997,791 (GRCm38)	L30H	probably damaging	Het
Abcb6	T	C	1: 75,172,551 (GRCm38)		probably null	Het
Acsbg1	T	A	9: 54,609,772 (GRCm38)	M586L	probably benign	Het
Ano6	A	T	15: 95,913,433 (GRCm38)	Y159F	probably damaging	Het
C1ql1	A	G	11: 102,939,749 (GRCm38)	I254T	probably damaging	Het
Ccdc81	T	C	7: 89,882,311 (GRCm38)	D318G	possibly damaging	Het
Ccr7	C	T	11: 99,145,663 (GRCm38)	M144I	probably damaging	Het
Cdca3	C	T	6: 124,832,664 (GRCm38)		probably null	Het
Cntfr	T	C	4: 41,663,216 (GRCm38)	D197G	possibly damaging	Het
Cyp2d12	C	A	15: 82,556,658 (GRCm38)	P126T	probably benign	Het
Dnah10	A	G	5: 124,785,184 (GRCm38)	T2225A	probably damaging	Het
Edrf1	A	T	7: 133,667,582 (GRCm38)	N1147Y	possibly damaging	Het
Eif1ad15	T	C	12: 88,321,225 (GRCm38)	D86G	possibly damaging	Het
Eif1ad16	T	C	12: 88,018,485 (GRCm38)	N96S	probably benign	Het
Ermap	C	T	4: 119,178,550 (GRCm38)	V414M	probably damaging	Het
Fam13a	A	G	6: 58,954,257 (GRCm38)	I446T	probably damaging	Het
Fgfbp3	T	C	19: 36,918,753 (GRCm38)	H155R	possibly damaging	Het
Folr1	T	A	7: 101,859,535 (GRCm38)	N61I	probably damaging	Het
Fsip1	T	C	2: 118,205,102 (GRCm38)	I431V	probably benign	Het
Gm5493	A	T	17: 22,750,070 (GRCm38)	E74D	probably benign	Het
H2-Oa	A	G	17: 34,094,566 (GRCm38)	D197G	probably benign	Het
Hps1	T	C	19: 42,769,607 (GRCm38)	E169G	probably null	Het
Il17rc	A	T	6: 113,480,347 (GRCm38)	M372L	probably benign	Het
Itga10	A	G	3: 96,658,185 (GRCm38)	S1042G	probably benign	Het
Jchain	A	T	5: 88,521,353 (GRCm38)	V147E	probably damaging	Het
Laptm4b	A	G	15: 34,283,327 (GRCm38)	T211A	probably benign	Het
Mal2	T	C	15: 54,571,639 (GRCm38)		probably null	Het
Mov10l1	T	A	15: 89,026,620 (GRCm38)	I1071N	probably damaging	Het
Mpp2	T	A	11: 102,060,969 (GRCm38)	Y401F	probably damaging	Het
Myh15	A	G	16: 49,145,247 (GRCm38)	T1172A	probably benign	Het
Or51q1	T	A	7: 103,979,974 (GRCm38)	S261T	probably damaging	Het
Pcnx1	G	T	12: 81,918,607 (GRCm38)	S516I	probably benign	Het
Pidd1	C	T	7: 141,439,795 (GRCm38)	A685T	probably damaging	Het
Psg28	A	C	7: 18,430,440 (GRCm38)	Y116D	probably damaging	Het
Psmd11	T	C	11: 80,438,632 (GRCm38)		probably benign	Het
Rapgefl1	T	A	11: 98,851,120 (GRCm38)	Y637N	probably damaging	Het
Rbm25	T	A	12: 83,644,432 (GRCm38)	M66K	probably damaging	Het
Rnf38	T	A	4: 44,152,408 (GRCm38)	H52L	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGTGGCGGCGG	7: 97,579,923 (GRCm38)		probably benign	Het
Sec62	A	G	3: 30,809,836 (GRCm38)	Q89R	probably damaging	Het
Serpina6	T	A	12: 103,648,720 (GRCm38)	Q289L	probably benign	Het
Sf3b2	A	C	19: 5,283,650 (GRCm38)	I640S	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,403,480 (GRCm38)		probably benign	Het
Slc26a11	T	C	11: 119,359,299 (GRCm38)	F127L	probably benign	Het
Spata31h1	T	C	10: 82,285,368 (GRCm38)	D3936G	probably damaging	Het
Stac3	T	A	10: 127,507,746 (GRCm38)	Y252*	probably null	Het
Stoml3	G	A	3: 53,507,506 (GRCm38)	A240T	probably damaging	Het
Tanc1	A	T	2: 59,843,510 (GRCm38)	H1653L	probably benign	Het
Tll1	A	T	8: 64,051,367 (GRCm38)	L665*	probably null	Het
Tnr	A	C	1: 159,861,270 (GRCm38)	Q434P	probably damaging	Het
Tpgs1	C	A	10: 79,675,520 (GRCm38)	D165E	probably benign	Het
Tsc2	A	G	17: 24,600,420 (GRCm38)	V1185A	probably benign	Het
Tulp4	A	G	17: 6,198,736 (GRCm38)	H203R	probably damaging	Het
Txnl4a	T	A	18: 80,218,765 (GRCm38)	M72K	possibly damaging	Het
Usp42	G	A	5: 143,714,972 (GRCm38)	R1099W	probably damaging	Het
Zfp292	G	A	4: 34,808,883 (GRCm38)	A1387V	possibly damaging	Het
Zfp994	A	T	17: 22,199,991 (GRCm38)	L659*	probably null	Het

Other mutations in Ces1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Ces1h	APN	8	93,357,463 (GRCm38)	missense	probably benign	0.03
IGL00227:Ces1h	APN	8	93,352,470 (GRCm38)	missense	unknown
IGL02343:Ces1h	APN	8	93,352,026 (GRCm38)	makesense	probably null
IGL02490:Ces1h	APN	8	93,356,999 (GRCm38)	critical splice donor site	probably null
H8786:Ces1h	UTSW	8	93,362,922 (GRCm38)	missense	probably damaging	0.99
P0012:Ces1h	UTSW	8	93,353,510 (GRCm38)	missense	unknown
R0395:Ces1h	UTSW	8	93,357,078 (GRCm38)	missense	unknown
R0538:Ces1h	UTSW	8	93,357,000 (GRCm38)	critical splice donor site	probably null
R0562:Ces1h	UTSW	8	93,357,143 (GRCm38)	missense	unknown
R0569:Ces1h	UTSW	8	93,352,146 (GRCm38)	missense	unknown
R1854:Ces1h	UTSW	8	93,358,822 (GRCm38)	missense	probably benign	0.13
R5945:Ces1h	UTSW	8	93,363,626 (GRCm38)	missense	probably benign	0.04
R5950:Ces1h	UTSW	8	93,362,959 (GRCm38)	missense	probably benign
R6015:Ces1h	UTSW	8	93,357,063 (GRCm38)	missense	unknown
R6317:Ces1h	UTSW	8	93,357,418 (GRCm38)	missense	unknown
R6647:Ces1h	UTSW	8	93,352,026 (GRCm38)	makesense	probably null
R6981:Ces1h	UTSW	8	93,353,495 (GRCm38)	missense	unknown
R7800:Ces1h	UTSW	8	93,379,694 (GRCm38)	missense
R7861:Ces1h	UTSW	8	93,357,425 (GRCm38)	missense	unknown
R8121:Ces1h	UTSW	8	93,353,476 (GRCm38)	missense	unknown
R8897:Ces1h	UTSW	8	93,353,465 (GRCm38)	missense	unknown
R9355:Ces1h	UTSW	8	93,374,521 (GRCm38)	missense
X0027:Ces1h	UTSW	8	93,362,878 (GRCm38)	missense	probably benign	0.00
X0066:Ces1h	UTSW	8	93,352,034 (GRCm38)	missense	unknown
Z1177:Ces1h	UTSW	8	93,366,840 (GRCm38)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTGATCTGGATGCTGGAAC -3'
(R):5'- GGCTCATAATTGCCTCATTGGG -3'

Sequencing Primer
(F):5'- CTGGATGCTGGAACTCAGGAGTC -3'
(R):5'- TGGGTATCTGATACAGTCCCAAG -3'

Posted On

2018-03-15