Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00160:Ces1h'

306571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces1h

Ensembl Gene

ENSMUSG00000074156

Gene Name

carboxylesterase 1H

Synonyms

2310039D24Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00160

Quality Score

Status

Chromosome

Chromosomal Location

94078471-94106353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94084091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 373 (D373G)

Ref Sequence

ENSEMBL: ENSMUSP00000121729 (fasta)

Gene Model

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

AlphaFold

D3Z298

Predicted Effect

probably benign
Transcript: ENSMUST00000145041
AA Change: D373G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121729
Gene: ENSMUSG00000074156
AA Change: D373G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,563,219 (GRCm39)	A387V	probably benign	Het
Adamts3	C	T	5: 90,009,184 (GRCm39)	V160I	probably damaging	Het
Arhgef26	T	C	3: 62,247,804 (GRCm39)	V296A	probably benign	Het
Bdp1	A	T	13: 100,197,706 (GRCm39)	M893K	probably benign	Het
Camk2d	T	A	3: 126,631,921 (GRCm39)	C407*	probably null	Het
Ces2f	A	T	8: 105,676,605 (GRCm39)	N100Y	probably damaging	Het
Ces2f	A	T	8: 105,676,604 (GRCm39)	Q99H	probably damaging	Het
Dlg5	T	C	14: 24,241,229 (GRCm39)	T223A	probably damaging	Het
Dnai7	T	A	6: 145,121,016 (GRCm39)	H601L	probably benign	Het
Dnmt3l	A	G	10: 77,893,189 (GRCm39)	D322G	probably damaging	Het
Fam243	T	C	16: 92,117,890 (GRCm39)	K133E	possibly damaging	Het
Fbxl20	C	T	11: 97,981,500 (GRCm39)	G396D	possibly damaging	Het
Garre1	G	A	7: 33,938,431 (GRCm39)	H1035Y	possibly damaging	Het
Gldc	T	C	19: 30,092,640 (GRCm39)	T760A	probably damaging	Het
Gm6483	T	A	8: 19,741,663 (GRCm39)		noncoding transcript	Het
Hcrtr2	A	T	9: 76,135,437 (GRCm39)	V460D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mrgpra2a	A	T	7: 47,076,286 (GRCm39)	M324K	probably damaging	Het
N4bp3	C	T	11: 51,536,143 (GRCm39)	A230T	probably benign	Het
Nphs1	T	G	7: 30,181,976 (GRCm39)	W1204G	possibly damaging	Het
Obscn	C	A	11: 58,892,883 (GRCm39)	A6788S	probably benign	Het
Ofcc1	T	C	13: 40,296,280 (GRCm39)	D518G	probably damaging	Het
Optc	T	C	1: 133,829,846 (GRCm39)	Y188C	probably damaging	Het
Prss45	C	A	9: 110,670,073 (GRCm39)	A285E	probably damaging	Het
Rcan2	C	T	17: 44,347,960 (GRCm39)	T223I	possibly damaging	Het
Snrnp70	A	G	7: 45,026,778 (GRCm39)		probably null	Het
Sorbs1	T	A	19: 40,306,473 (GRCm39)	T1064S	probably damaging	Het
Sptb	T	C	12: 76,669,943 (GRCm39)	K462E	probably damaging	Het
Sstr1	A	G	12: 58,259,536 (GRCm39)	E53G	probably benign	Het
Stxbp2	A	T	8: 3,686,354 (GRCm39)		probably null	Het
Tex35	G	A	1: 156,927,326 (GRCm39)		probably benign	Het
Thnsl1	T	C	2: 21,217,260 (GRCm39)	F338S	possibly damaging	Het
Trpv1	C	T	11: 73,151,188 (GRCm39)	A424V	probably damaging	Het
Unc80	A	T	1: 66,693,554 (GRCm39)	H2535L	possibly damaging	Het
Usp46	T	C	5: 74,163,347 (GRCm39)	E333G	probably null	Het
Vmn1r27	T	C	6: 58,192,119 (GRCm39)	Y245C	probably benign	Het
Zfp488	T	C	14: 33,693,026 (GRCm39)	M46V	probably benign	Het
Zfp566	G	T	7: 29,777,936 (GRCm39)	Q82K	probably benign	Het
Znhit6	T	C	3: 145,283,915 (GRCm39)	S62P	probably damaging	Het
Znrf3	T	C	11: 5,239,039 (GRCm39)	H108R	probably damaging	Het

Other mutations in Ces1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
P0012:Ces1h	UTSW	8	94,080,138 (GRCm39)	missense	unknown
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

2015-04-16