Mutagenetix > Incidental Mutation

Incidental Mutation 'H8786:Ces1h'

44450

Institutional Source

Beutler Lab

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 #

H8786 (G3) of strain 617

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

94078471-94106353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 94089550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 283 (V283G)

Ref Sequence

ENSEMBL: ENSMUSP00000121729 (fasta)

Gene Model

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

AlphaFold

D3Z298

Predicted Effect

probably damaging
Transcript: ENSMUST00000145041
AA Change: V283G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121729
Gene: ENSMUSG00000074156
AA Change: V283G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212027

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	A	G	2: 19,498,905 (GRCm39)	Y363H	probably benign	Het
4933402N03Rik	T	A	7: 130,740,906 (GRCm39)	R103S	probably damaging	Het
Aars1	A	G	8: 111,772,187 (GRCm39)	D459G	probably benign	Het
Adam25	A	T	8: 41,207,261 (GRCm39)	M176L	probably benign	Het
Adcy5	A	G	16: 35,087,551 (GRCm39)	I471V	probably damaging	Het
Ano8	A	T	8: 71,931,388 (GRCm39)		probably benign	Het
Arhgef28	T	A	13: 98,083,461 (GRCm39)	Q1136L	probably damaging	Het
Atp13a3	A	T	16: 30,178,543 (GRCm39)	C164*	probably null	Het
Avl9	G	A	6: 56,734,295 (GRCm39)	A625T	probably damaging	Het
Avpr1a	A	T	10: 122,285,373 (GRCm39)	M222L	probably benign	Het
B4galnt4	A	T	7: 140,651,235 (GRCm39)	M939L	probably damaging	Het
B4galt6	A	G	18: 20,822,001 (GRCm39)	F331S	probably benign	Het
C2cd2	G	T	16: 97,680,840 (GRCm39)	Q325K	possibly damaging	Het
Caml	T	G	13: 55,776,409 (GRCm39)	L216R	probably damaging	Het
Cd200r4	A	G	16: 44,653,736 (GRCm39)	T132A	possibly damaging	Het
Clptm1	A	T	7: 19,369,629 (GRCm39)	V427D	possibly damaging	Het
Drd1	T	A	13: 54,207,122 (GRCm39)	N357I	possibly damaging	Het
Foxq1	C	G	13: 31,743,441 (GRCm39)	S181W	probably damaging	Het
Gfra2	C	T	14: 71,215,818 (GRCm39)	T169M	possibly damaging	Het
Gm42542	T	C	6: 68,872,634 (GRCm39)		probably null	Het
Hoxa13	CGG	CGNGG	6: 52,260,636 (GRCm38)		probably null	Het
Hsd11b1	C	A	1: 192,922,560 (GRCm39)	A166S	probably benign	Het
Kcnab3	T	A	11: 69,219,093 (GRCm39)	F101L	probably damaging	Het
Klf6	C	A	13: 5,911,790 (GRCm39)	H51Q	probably damaging	Het
Krtap4-8	G	A	11: 99,670,898 (GRCm39)	P191L	unknown	Het
Lrrk2	T	A	15: 91,557,561 (GRCm39)	N26K	probably benign	Het
Mrgprd	T	C	7: 144,876,004 (GRCm39)	S292P	probably benign	Het
Ms4a8a	A	G	19: 11,053,725 (GRCm39)	I127T	possibly damaging	Het
Myo7a	T	G	7: 97,744,985 (GRCm39)	N280T	possibly damaging	Het
Nipal4	A	G	11: 46,041,304 (GRCm39)	F297S	probably damaging	Het
Npas1	A	G	7: 16,195,275 (GRCm39)	I351T	possibly damaging	Het
Or12k7	A	G	2: 36,958,341 (GRCm39)	E8G	probably benign	Het
Or4a72	C	A	2: 89,405,623 (GRCm39)	G149V	probably damaging	Het
Or9e1	A	T	11: 58,732,146 (GRCm39)	I69F	probably benign	Het
Parp11	A	G	6: 127,448,598 (GRCm39)	T72A	probably damaging	Het
Pik3c3	T	C	18: 30,427,396 (GRCm39)	V300A	probably damaging	Het
Pik3cb	T	C	9: 98,928,612 (GRCm39)	E881G	possibly damaging	Het
Polr2h	T	A	16: 20,539,281 (GRCm39)	L57*	probably null	Het
Rela	T	A	19: 5,697,046 (GRCm39)	S418T	probably benign	Het
Rptn	A	G	3: 93,305,180 (GRCm39)	T838A	possibly damaging	Het
Sez6l2	T	A	7: 126,560,955 (GRCm39)	N413K	possibly damaging	Het
Slc6a2	A	G	8: 93,721,268 (GRCm39)	I466V	probably benign	Het
Slco4c1	A	T	1: 96,768,876 (GRCm39)	C329S	probably damaging	Het
Sppl2c	A	G	11: 104,077,691 (GRCm39)	M164V	probably benign	Het
Spta1	G	A	1: 174,007,405 (GRCm39)	V212M	probably damaging	Het
Sqor	A	C	2: 122,634,288 (GRCm39)	I142L	probably benign	Het
Suco	T	C	1: 161,680,420 (GRCm39)	E317G	probably damaging	Het
Tlk2	T	A	11: 105,145,805 (GRCm39)	I337N	possibly damaging	Het
Tln1	A	T	4: 43,544,589 (GRCm39)	N1113K	probably damaging	Het
Tmc2	A	G	2: 130,068,182 (GRCm39)	Y234C	probably damaging	Het
Tmem167	A	C	13: 90,246,585 (GRCm39)	K36N	probably damaging	Het
Trim72	T	C	7: 127,603,963 (GRCm39)	L103P	probably damaging	Het
Tut4	T	C	4: 108,408,012 (GRCm39)		probably null	Het
Urb1	T	A	16: 90,566,357 (GRCm39)	M1477L	probably benign	Het
Vwa2	T	A	19: 56,898,164 (GRCm39)	M721K	possibly damaging	Het
Zfp143	T	G	7: 109,693,575 (GRCm39)	D636E	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCAGTCATTCCACAAGACATACGTGC -3'
(R):5'- GGCCCCTAGAAACCACATTTGCTC -3'

Sequencing Primer
(F):5'- aggagggaaggaaagggg -3'
(R):5'- CTCATTTAGAGTGTTTCAGGAAGCC -3'

Posted On

2013-06-11