Mutagenetix > Incidental Mutation

Incidental Mutation 'R7323:Ces3a'

568291

Institutional Source

Beutler Lab

Gene Symbol

Ces3a

Ensembl Gene

ENSMUSG00000069922

Gene Name

carboxylesterase 3A

Synonyms

Es-male carboxylesterase, Es31

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7323 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105775233-105785045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 105782239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 364 (H364P)

Ref Sequence

ENSEMBL: ENSMUSP00000090910 (fasta)

Gene Model

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

AlphaFold

Q63880

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093222
AA Change: H364P

PolyPhen 2 Score 0.538 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090910
Gene: ENSMUSG00000069922
AA Change: H364P

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 benign
Transcript: ENSMUST00000093223
AA Change: H317P

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090911
Gene: ENSMUSG00000069922
AA Change: H317P

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	C	A	5: 100,126,945 (GRCm39)	A9E	unknown	Het
6030452D12Rik	A	T	8: 107,227,411 (GRCm39)		probably null	Het
Abcb11	C	A	2: 69,117,979 (GRCm39)	Q466H	probably damaging	Het
Adam20	A	G	8: 41,248,421 (GRCm39)	D177G	probably benign	Het
Ampd1	A	T	3: 102,992,696 (GRCm39)	Q150L	probably benign	Het
Angpt2	A	C	8: 18,755,840 (GRCm39)	M209R	probably benign	Het
Aoc2	G	A	11: 101,219,371 (GRCm39)	R598Q	probably damaging	Het
Arap1	A	G	7: 101,049,418 (GRCm39)	D960G	probably damaging	Het
Bhlhe40	G	C	6: 108,642,242 (GRCm39)	L395F	probably benign	Het
Cacna1i	T	C	15: 80,275,854 (GRCm39)	C1882R	possibly damaging	Het
Ccr6	A	G	17: 8,475,611 (GRCm39)	N272S	possibly damaging	Het
Ces1f	A	T	8: 93,998,472 (GRCm39)	W175R	probably damaging	Het
Cfap54	T	C	10: 92,637,000 (GRCm39)	M3130V	probably benign	Het
Clca3b	G	A	3: 144,531,681 (GRCm39)	P708S	possibly damaging	Het
Cps1	A	T	1: 67,197,028 (GRCm39)	T360S	probably benign	Het
Cramp1	A	T	17: 25,201,379 (GRCm39)	M701K	possibly damaging	Het
Dnah1	A	G	14: 31,020,664 (GRCm39)	I1235T	probably damaging	Het
Efcab3	T	C	11: 104,920,837 (GRCm39)	L4676P	probably benign	Het
Ergic1	A	G	17: 26,860,644 (GRCm39)	E244G	probably damaging	Het
Fignl2	C	A	15: 100,951,382 (GRCm39)	R300L	unknown	Het
Fry	T	C	5: 150,419,814 (GRCm39)	M628T		Het
Fscn3	A	G	6: 28,431,544 (GRCm39)	T292A	possibly damaging	Het
Fsip2	A	T	2: 82,819,860 (GRCm39)	I5198L	probably benign	Het
Gm4181	T	A	14: 51,869,990 (GRCm39)	R104W	probably damaging	Het
Gnl1	G	A	17: 36,294,305 (GRCm39)	R308H	probably benign	Het
Gtf2h4	G	T	17: 35,980,857 (GRCm39)	L271I	probably damaging	Het
Helq	GTTT	GTT	5: 100,931,051 (GRCm39)		probably null	Het
Hhatl	A	T	9: 121,618,652 (GRCm39)	W117R	probably benign	Het
Hlx	A	G	1: 184,462,993 (GRCm39)	F220L	probably benign	Het
Il31ra	T	C	13: 112,688,497 (GRCm39)	I27V	probably damaging	Het
Itga8	T	G	2: 12,266,940 (GRCm39)	D165A	probably damaging	Het
Krt33a	A	C	11: 99,902,801 (GRCm39)	V341G	probably benign	Het
Lrrc3c	A	G	11: 98,490,266 (GRCm39)	M208V	possibly damaging	Het
Mapk8ip3	A	T	17: 25,120,135 (GRCm39)	S947T	probably benign	Het
Muc5b	A	G	7: 141,412,444 (GRCm39)	I1797V	unknown	Het
Myh2	A	T	11: 67,088,191 (GRCm39)	T1936S	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Or1l8	T	A	2: 36,817,986 (GRCm39)	I47F	probably damaging	Het
Or4c114	A	T	2: 88,904,811 (GRCm39)	I208K	probably damaging	Het
Or4e2	A	G	14: 52,688,670 (GRCm39)	I267V	probably benign	Het
Or5d40	A	G	2: 88,015,952 (GRCm39)	T244A	possibly damaging	Het
Phf3	A	G	1: 30,852,211 (GRCm39)	M1064T	probably benign	Het
Pkd1	A	G	17: 24,794,025 (GRCm39)	E1904G	probably benign	Het
Polrmt	A	G	10: 79,576,483 (GRCm39)	V491A	probably benign	Het
Ppm1j	C	A	3: 104,691,429 (GRCm39)	R306S	probably damaging	Het
Prkd2	T	C	7: 16,581,547 (GRCm39)	F134S	probably benign	Het
Prpf8	C	A	11: 75,382,610 (GRCm39)	Q439K	probably benign	Het
Prss50	A	T	9: 110,692,800 (GRCm39)	I307F	possibly damaging	Het
Rgs20	A	G	1: 4,982,535 (GRCm39)		probably null	Het
Rnf144b	A	G	13: 47,393,258 (GRCm39)	E199G	probably damaging	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc22a26	A	T	19: 7,768,259 (GRCm39)	V233E	probably damaging	Het
Slc27a2	T	G	2: 126,395,124 (GRCm39)	L17R	probably benign	Het
Slc6a17	A	G	3: 107,398,794 (GRCm39)	V269A	probably benign	Het
Srp54c	T	C	12: 55,304,237 (GRCm39)	V395A	probably benign	Het
Sspo	A	T	6: 48,438,581 (GRCm39)	S1550C	possibly damaging	Het
Tet1	A	G	10: 62,715,818 (GRCm39)		probably benign	Het
Themis	A	T	10: 28,609,497 (GRCm39)	H88L	probably benign	Het
Tmem63b	G	A	17: 45,971,773 (GRCm39)	T814M	possibly damaging	Het
Tnc	G	A	4: 63,889,469 (GRCm39)	T1679I	probably damaging	Het
Tnfrsf11a	A	G	1: 105,772,456 (GRCm39)	D581G	probably damaging	Het
Trim30d	A	C	7: 104,132,555 (GRCm39)	V244G	probably benign	Het
Trpv1	T	C	11: 73,151,163 (GRCm39)	S784P	possibly damaging	Het
Tulp1	G	A	17: 28,575,398 (GRCm39)	T103M	probably damaging	Het
Ubap2l	A	C	3: 89,922,713 (GRCm39)	V775G	unknown	Het
Vmn2r69	A	C	7: 85,060,972 (GRCm39)	I204R	possibly damaging	Het
Vmn2r72	T	A	7: 85,399,771 (GRCm39)	D426V	probably benign	Het
Vmn2r93	G	A	17: 18,533,497 (GRCm39)	W467*	probably null	Het
Wbp2nl	T	C	15: 82,198,542 (GRCm39)	*360Q	probably null	Het
Xylt1	G	A	7: 117,191,274 (GRCm39)		probably null	Het
Zc3h6	T	G	2: 128,835,331 (GRCm39)	N123K	unknown	Het
Zfp853	T	C	5: 143,275,110 (GRCm39)	Q185R	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
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
R8757:Ces3a	UTSW	8	105,784,129 (GRCm39)	missense	probably damaging	0.99
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'- TAAGCACCTCAATTCTCAGCAG -3'
(R):5'- CAAATGATCAGGGCTGGGATC -3'

Sequencing Primer
(F):5'- TCAGCAGTCAAAAGTCTCTCTG -3'
(R):5'- CCTGAATGCTGGGATGATAGTCACC -3'

Posted On

2019-06-26