Mutagenetix > Incidental Mutation

Incidental Mutation 'R8757:Ces3a'

671696

Institutional Source

Beutler Lab

Gene Symbol

Ces3a

Ensembl Gene

ENSMUSG00000069922

Gene Name

carboxylesterase 3A

Synonyms

Es-male carboxylesterase, Es31

MMRRC Submission

068621-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R8757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105775233-105785045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105784129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 443 (H443R)

Ref Sequence

ENSEMBL: ENSMUSP00000090910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093222] [ENSMUST00000093223]

AlphaFold

Q63880

Predicted Effect

probably damaging
Transcript: ENSMUST00000093222
AA Change: H443R

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: H443R

Domain	Start	End	E-Value	Type
Pfam:COesterase	16	547	1.1e-163	PFAM
Pfam:Abhydrolase_3	147	305	5.2e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000093223
AA Change: H396R

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

SMART Domains

Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: H396R

Domain	Start	End	E-Value	Type
Pfam:COesterase	16	320	1.4e-111	PFAM
Pfam:Abhydrolase_3	147	319	4.8e-14	PFAM
Pfam:COesterase	312	500	1.2e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	T	C	11: 117,697,112 (GRCm39)	V237A	probably benign	Het
Abca15	G	A	7: 120,006,631 (GRCm39)	V1632M	probably damaging	Het
Adam20	A	T	8: 41,248,943 (GRCm39)	H351L	probably benign	Het
Ak9	T	C	10: 41,299,036 (GRCm39)	V1579A	unknown	Het
Apol7e	T	C	15: 77,602,065 (GRCm39)	V221A	probably benign	Het
Arid5b	T	C	10: 67,933,640 (GRCm39)	H754R	probably damaging	Het
Atp6v0d2	T	A	4: 19,910,649 (GRCm39)	R80S	probably benign	Het
Cers3	G	A	7: 66,435,850 (GRCm39)	V270M	probably damaging	Het
Cnot7	A	G	8: 40,947,080 (GRCm39)	V269A	probably benign	Het
Cntn1	T	G	15: 92,153,801 (GRCm39)	F485V	possibly damaging	Het
Copa	A	G	1: 171,947,081 (GRCm39)	I1068M	probably benign	Het
Dchs2	G	A	3: 83,261,567 (GRCm39)	V2612M	possibly damaging	Het
Dgkz	T	C	2: 91,775,922 (GRCm39)	T114A	probably benign	Het
Dock2	A	T	11: 34,586,067 (GRCm39)	D538E	probably benign	Het
Epn3	C	A	11: 94,386,848 (GRCm39)	G174V	possibly damaging	Het
Evx2	C	T	2: 74,486,226 (GRCm39)	A388T	probably benign	Het
Fancd2	T	C	6: 113,537,054 (GRCm39)	M553T	possibly damaging	Het
Ficd	G	T	5: 113,876,575 (GRCm39)	R250L	probably damaging	Het
Fmo2	A	G	1: 162,708,005 (GRCm39)	S377P	probably benign	Het
Gm19410	A	T	8: 36,276,119 (GRCm39)	Q1592L	possibly damaging	Het
Gm4792	T	A	10: 94,131,049 (GRCm39)	T87S	unknown	Het
Gm8947	C	A	1: 151,068,809 (GRCm39)	T214K	probably benign	Het
H6pd	C	T	4: 150,066,758 (GRCm39)	V551I	probably benign	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Heyl	C	T	4: 123,127,666 (GRCm39)	R3W	probably damaging	Het
Htr4	T	A	18: 62,545,335 (GRCm39)	V40E	probably damaging	Het
Ighg1	A	T	12: 113,292,657 (GRCm39)	L304*	probably null	Het
Igkv1-135	T	A	6: 67,587,470 (GRCm39)	W114R	possibly damaging	Het
Itga8	T	C	2: 12,266,940 (GRCm39)	D165G	probably damaging	Het
Kmt2a	A	T	9: 44,754,210 (GRCm39)	V1210E	unknown	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 99,808,888 (GRCm39)		probably null	Het
Lrrc37a	A	G	11: 103,348,766 (GRCm39)	V2643A	unknown	Het
Map4k5	A	G	12: 69,897,598 (GRCm39)		probably benign	Het
Mecom	A	T	3: 30,292,268 (GRCm39)	D14E		Het
Myo3a	G	T	2: 22,448,319 (GRCm39)	K969N	possibly damaging	Het
Nat3	T	C	8: 68,000,202 (GRCm39)	I27T	probably damaging	Het
Nr1d1	G	C	11: 98,660,073 (GRCm39)	R484G	probably damaging	Het
Nr2c1	T	C	10: 94,031,119 (GRCm39)	L560P	probably damaging	Het
Or52e8	T	C	7: 104,624,325 (GRCm39)	N293S	probably damaging	Het
Pik3cg	T	C	12: 32,255,006 (GRCm39)	D327G	probably damaging	Het
Ppihl	A	T	5: 44,070,999 (GRCm39)	N119I	probably benign	Het
Ppp1r13l	G	T	7: 19,103,981 (GRCm39)	G154V	probably damaging	Het
Psmc5	A	G	11: 106,153,687 (GRCm39)	D382G	probably benign	Het
Ptprz1	C	A	6: 22,972,716 (GRCm39)	Q209K	possibly damaging	Het
Rev1	A	C	1: 38,098,353 (GRCm39)	L730R	probably damaging	Het
Rin3	G	A	12: 102,339,861 (GRCm39)	V684I	probably damaging	Het
Ror1	T	A	4: 100,298,080 (GRCm39)	F484L	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Sema6d	G	A	2: 124,497,134 (GRCm39)	C136Y	probably damaging	Het
Sf3a2	T	A	10: 80,640,138 (GRCm39)	H316Q	unknown	Het
Slc18b1	T	C	10: 23,692,198 (GRCm39)		silent	Het
Sp100	T	C	1: 85,590,285 (GRCm39)	V93A	possibly damaging	Het
Spta1	C	T	1: 174,040,940 (GRCm39)	L1247F	probably damaging	Het
Syne1	T	A	10: 5,144,618 (GRCm39)	N21I	probably damaging	Het
Tbck	G	T	3: 132,392,587 (GRCm39)	M9I	probably benign	Het
Tln2	T	C	9: 67,274,500 (GRCm39)	Y376C	probably damaging	Het
Tmem199	T	A	11: 78,398,633 (GRCm39)		probably benign	Het
Ttf2	A	G	3: 100,857,648 (GRCm39)	L759P	probably damaging	Het
Ubqlnl	T	A	7: 103,799,206 (GRCm39)	H97L	probably damaging	Het
Zfp800	T	C	6: 28,244,270 (GRCm39)	I232V	probably benign	Het
Zfp831	A	G	2: 174,487,874 (GRCm39)	T850A	probably benign	Het
Zpld2	T	C	4: 133,930,282 (GRCm39)	T8A	unknown	Het

Other mutations in Ces3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Ces3a	APN	8	105,777,202 (GRCm39)	missense	probably damaging	1.00
IGL01557:Ces3a	APN	8	105,784,383 (GRCm39)	missense	probably damaging	1.00
IGL02092:Ces3a	APN	8	105,776,962 (GRCm39)	splice site	probably benign
IGL02140:Ces3a	APN	8	105,782,263 (GRCm39)	missense	probably benign	0.07
K3955:Ces3a	UTSW	8	105,777,259 (GRCm39)	splice site	probably benign
R0724:Ces3a	UTSW	8	105,776,827 (GRCm39)	missense	possibly damaging	0.73
R1066:Ces3a	UTSW	8	105,782,288 (GRCm39)	missense	probably benign	0.01
R1223:Ces3a	UTSW	8	105,784,661 (GRCm39)	missense	probably benign	0.00
R1224:Ces3a	UTSW	8	105,778,141 (GRCm39)	missense	probably damaging	1.00
R1340:Ces3a	UTSW	8	105,784,545 (GRCm39)	missense	probably damaging	1.00
R1513:Ces3a	UTSW	8	105,776,909 (GRCm39)	missense	probably damaging	1.00
R1740:Ces3a	UTSW	8	105,775,317 (GRCm39)	missense	probably damaging	1.00
R2192:Ces3a	UTSW	8	105,782,212 (GRCm39)	missense	probably benign
R3407:Ces3a	UTSW	8	105,777,199 (GRCm39)	missense	probably damaging	1.00
R4002:Ces3a	UTSW	8	105,784,093 (GRCm39)	missense	probably damaging	1.00
R4668:Ces3a	UTSW	8	105,780,055 (GRCm39)	missense	probably damaging	1.00
R5045:Ces3a	UTSW	8	105,777,248 (GRCm39)	critical splice donor site	probably null
R5331:Ces3a	UTSW	8	105,784,188 (GRCm39)	missense	probably damaging	1.00
R5450:Ces3a	UTSW	8	105,784,550 (GRCm39)	missense	possibly damaging	0.83
R5535:Ces3a	UTSW	8	105,778,196 (GRCm39)	missense	probably benign	0.34
R5640:Ces3a	UTSW	8	105,778,377 (GRCm39)	missense	probably benign	0.42
R5881:Ces3a	UTSW	8	105,777,198 (GRCm39)	missense	probably damaging	1.00
R6795:Ces3a	UTSW	8	105,777,228 (GRCm39)	missense	possibly damaging	0.94
R7112:Ces3a	UTSW	8	105,784,594 (GRCm39)	missense	probably damaging	1.00
R7323:Ces3a	UTSW	8	105,782,239 (GRCm39)	missense	possibly damaging	0.54
R7419:Ces3a	UTSW	8	105,783,056 (GRCm39)	missense	probably damaging	1.00
R7475:Ces3a	UTSW	8	105,780,322 (GRCm39)	splice site	probably null
R7793:Ces3a	UTSW	8	105,782,293 (GRCm39)	critical splice donor site	probably null
R7934:Ces3a	UTSW	8	105,775,345 (GRCm39)	critical splice donor site	probably null
R8512:Ces3a	UTSW	8	105,784,661 (GRCm39)	missense	probably benign	0.00
R8759:Ces3a	UTSW	8	105,784,129 (GRCm39)	missense	probably damaging	0.99
R9353:Ces3a	UTSW	8	105,776,547 (GRCm39)	missense	probably benign	0.17
Z1176:Ces3a	UTSW	8	105,780,234 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CAATGCCAGGAATGCTTGCC -3'
(R):5'- GGACAAATTTGGTTTAGAGTCAGG -3'

Sequencing Primer
(F):5'- GGAATGCTTGCCATCCACC -3'
(R):5'- GTCAGGTGAGGCTTAAACTATCCC -3'

Posted On

2021-04-30