Mutagenetix > Incidental Mutation

Incidental Mutation 'P0012:Ces1h'

7555

Institutional Source

Beutler Lab

Gene Symbol

Ces1h

Ensembl Gene

ENSMUSG00000074156

Gene Name

carboxylesterase 1H

Synonyms

2310039D24Rik

MMRRC Submission

038266-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

P0012 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

94078471-94106353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94080138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 459 (K459E)

Ref Sequence

ENSEMBL: ENSMUSP00000121729 (fasta)

Gene Model

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

AlphaFold

D3Z298

Predicted Effect

unknown
Transcript: ENSMUST00000145041
AA Change: K459E

SMART Domains

Protein: ENSMUSP00000121729
Gene: ENSMUSG00000074156
AA Change: K459E

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 85.5%
3x: 81.0%
10x: 67.7%
20x: 52.2%

Validation Efficiency

85% (579/685)

Allele List at MGI

Other mutations in this stock

Total: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	C	7: 82,223,465 (GRCm39)	N156T	probably benign	Het
Akap3	T	C	6: 126,841,564 (GRCm39)	F61S	possibly damaging	Het
Arhgap1	T	C	2: 91,500,608 (GRCm39)	V379A	probably benign	Het
Fbn1	T	C	2: 125,211,241 (GRCm39)		probably benign	Het
Hrh2	T	C	13: 54,368,447 (GRCm39)	F141S	probably benign	Het
Igkv3-4	A	T	6: 70,649,231 (GRCm39)	N77Y	probably benign	Het
Nup205	T	C	6: 35,173,478 (GRCm39)	M496T	possibly damaging	Het
Tas2r124	T	C	6: 132,732,503 (GRCm39)	Y271H	possibly damaging	Het
Tnfrsf11b	A	G	15: 54,123,194 (GRCm39)		probably benign	Het

Other mutations in Ces1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Ces1h	APN	8	94,084,091 (GRCm39)	missense	probably benign	0.03
IGL00227:Ces1h	APN	8	94,079,098 (GRCm39)	missense	unknown
IGL02343:Ces1h	APN	8	94,078,654 (GRCm39)	makesense	probably null
IGL02490:Ces1h	APN	8	94,083,627 (GRCm39)	critical splice donor site	probably null
H8786:Ces1h	UTSW	8	94,089,550 (GRCm39)	missense	probably damaging	0.99
R0395:Ces1h	UTSW	8	94,083,706 (GRCm39)	missense	unknown
R0538:Ces1h	UTSW	8	94,083,628 (GRCm39)	critical splice donor site	probably null
R0562:Ces1h	UTSW	8	94,083,771 (GRCm39)	missense	unknown
R0569:Ces1h	UTSW	8	94,078,774 (GRCm39)	missense	unknown
R1854:Ces1h	UTSW	8	94,085,450 (GRCm39)	missense	probably benign	0.13
R5945:Ces1h	UTSW	8	94,090,254 (GRCm39)	missense	probably benign	0.04
R5950:Ces1h	UTSW	8	94,089,587 (GRCm39)	missense	probably benign
R6015:Ces1h	UTSW	8	94,083,691 (GRCm39)	missense	unknown
R6275:Ces1h	UTSW	8	94,099,274 (GRCm39)	missense	probably benign	0.23
R6317:Ces1h	UTSW	8	94,084,046 (GRCm39)	missense	unknown
R6647:Ces1h	UTSW	8	94,078,654 (GRCm39)	makesense	probably null
R6981:Ces1h	UTSW	8	94,080,123 (GRCm39)	missense	unknown
R7800:Ces1h	UTSW	8	94,106,322 (GRCm39)	missense
R7861:Ces1h	UTSW	8	94,084,053 (GRCm39)	missense	unknown
R8121:Ces1h	UTSW	8	94,080,104 (GRCm39)	missense	unknown
R8897:Ces1h	UTSW	8	94,080,093 (GRCm39)	missense	unknown
R9355:Ces1h	UTSW	8	94,101,149 (GRCm39)	missense
X0027:Ces1h	UTSW	8	94,089,506 (GRCm39)	missense	probably benign	0.00
X0066:Ces1h	UTSW	8	94,078,662 (GRCm39)	missense	unknown
Z1177:Ces1h	UTSW	8	94,093,468 (GRCm39)	critical splice acceptor site	probably null

Posted On

2012-10-04