Mutagenetix > Incidental Mutation

Incidental Mutation 'R2483:Ces1a'

250665

Institutional Source

Beutler Lab

Gene Symbol

Ces1a

Ensembl Gene

ENSMUSG00000071047

Gene Name

carboxylesterase 1A

Synonyms

Gm4976

MMRRC Submission

040407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2483 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93020214-93048192 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93027341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 345 (Y345H)

Ref Sequence

ENSEMBL: ENSMUSP00000092836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095211]

AlphaFold

E9PYP1

Predicted Effect

probably damaging
Transcript: ENSMUST00000095211
AA Change: Y345H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092836
Gene: ENSMUSG00000071047
AA Change: Y345H

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	5.7e-169	PFAM
Pfam:Abhydrolase_3	136	286	8.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210764

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230050P20Rik	A	T	9: 20,873,177	I186F	possibly damaging	Het
Adcy1	A	G	11: 7,130,348	T364A	probably benign	Het
Adpgk	G	A	9: 59,313,753	V281I	probably benign	Het
Akap9	C	A	5: 3,976,235	Q1297K	possibly damaging	Het
Ankrd13d	T	C	19: 4,281,940	E110G	probably damaging	Het
Ankrd53	A	G	6: 83,763,262	E104G	possibly damaging	Het
Ano6	A	T	15: 95,965,974	T792S	probably benign	Het
Atm	A	T	9: 53,510,266	V715D	probably damaging	Het
Avl9	A	G	6: 56,736,843	D362G	probably benign	Het
Bin1	T	A	18: 32,414,227	S152R	probably damaging	Het
Bscl2	T	A	19: 8,841,150	C40S	probably benign	Het
Btaf1	A	G	19: 36,981,086	T668A	probably benign	Het
Btrc	A	G	19: 45,516,058	D397G	probably damaging	Het
C530008M17Rik	A	T	5: 76,856,409	I206F	probably damaging	Het
Cables2	A	T	2: 180,260,429	V379E	probably damaging	Het
Cacna2d2	T	C	9: 107,512,022	L228P	probably damaging	Het
Cd109	A	T	9: 78,667,357	D541V	probably damaging	Het
Cdh26	A	T	2: 178,466,589	S327C	probably damaging	Het
Cep78	T	C	19: 15,960,980	K535E	probably damaging	Het
Col6a5	C	A	9: 105,864,148	R2524I	probably damaging	Het
Dctn1	G	A	6: 83,194,187	R661H	probably damaging	Het
Ddias	T	C	7: 92,859,592	T372A	probably benign	Het
Dffb	T	C	4: 153,965,519	T296A	probably damaging	Het
Dock8	A	G	19: 25,079,877	Q216R	probably benign	Het
Emx1	T	C	6: 85,188,255	S105P	probably benign	Het
Ep400	T	C	5: 110,719,236	Y1014C	unknown	Het
Fam193a	A	T	5: 34,465,758	K1230M	possibly damaging	Het
Fgf9	A	G	14: 58,109,571	Q207R	probably benign	Het
Gm5460	G	A	14: 34,045,818	C461Y	possibly damaging	Het
Gpc1	T	C	1: 92,855,938	I249T	probably benign	Het
Htr1d	T	C	4: 136,443,504	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,738	S364C	probably damaging	Het
Igfn1	T	C	1: 135,969,537	E1097G	probably benign	Het
Igkv1-133	A	T	6: 67,724,960	Q16L	probably benign	Het
Kcnh5	A	T	12: 75,114,471	I221N	probably damaging	Het
Kmt2a	A	G	9: 44,848,966	Y529H	probably damaging	Het
Kyat1	T	C	2: 30,186,698	H218R	possibly damaging	Het
Lamb2	T	G	9: 108,480,559	C94G	probably damaging	Het
Met	A	T	6: 17,549,086	D979V	probably damaging	Het
Midn	A	G	10: 80,150,310	D78G	probably benign	Het
Myh1	A	T	11: 67,211,226	M811L	probably benign	Het
Myh7	T	C	14: 54,973,381	E1693G	probably damaging	Het
Myo15b	A	G	11: 115,864,739	T979A	probably benign	Het
Myo18b	A	T	5: 112,858,408	C879S	probably damaging	Het
Myom1	A	G	17: 71,077,812	T733A	probably damaging	Het
Ndufa9	A	T	6: 126,844,399	M76K	possibly damaging	Het
Nectin3	A	G	16: 46,395,179	C74R	possibly damaging	Het
Obscn	A	G	11: 59,080,146	F2514L	probably damaging	Het
Olfr1241	G	A	2: 89,483,127	Q3*	probably null	Het
Olfr510	CAAATA	CA	7: 108,667,662		probably null	Het
Olfr653	T	C	7: 104,579,942	S99P	probably damaging	Het
P2ry2	A	T	7: 100,998,499	S200T	probably benign	Het
Pcdha5	G	T	18: 36,961,489	M350I	probably benign	Het
Pcdha5	G	A	18: 36,961,781	V448M	probably damaging	Het
Pex12	C	T	11: 83,297,629	R180H	possibly damaging	Het
Pkd1l1	A	T	11: 8,962,701	V168E	probably damaging	Het
Prokr2	T	A	2: 132,381,175	D149V	probably damaging	Het
Rnf123	A	G	9: 108,063,521	V707A	probably benign	Het
Ryr2	T	C	13: 11,759,703	E1189G	probably damaging	Het
Scarf1	T	C	11: 75,515,291	F134L	probably damaging	Het
Sfxn5	A	G	6: 85,332,278		probably null	Het
Slc17a5	A	T	9: 78,538,274	V433D	probably damaging	Het
Snapc1	A	G	12: 73,964,643	T28A	probably benign	Het
Soat1	T	C	1: 156,431,099	Y528C	probably damaging	Het
Spem1	G	A	11: 69,821,518	R107C	possibly damaging	Het
Srcap	T	C	7: 127,542,147	S1639P	probably damaging	Het
Sycp2	A	T	2: 178,374,595	N691K	probably damaging	Het
Syne2	A	T	12: 76,095,537	I6183F	probably damaging	Het
Tas2r110	A	T	6: 132,868,470	M155L	probably benign	Het
Tenm3	G	A	8: 48,240,270	T1859I	probably damaging	Het
Thsd7b	T	A	1: 130,103,072	V1048D	probably damaging	Het
Tmem55b	C	G	14: 50,930,292	V59L	probably damaging	Het
Ttc37	A	G	13: 76,182,867	E1472G	probably damaging	Het
Vav3	T	C	3: 109,341,166	L43P	probably damaging	Het
Vmn1r30	A	T	6: 58,435,452	F132I	probably benign	Het
Vmn2r24	A	G	6: 123,816,038	R775G	probably damaging	Het
Vps13c	T	A	9: 67,975,907		probably null	Het
Vps37c	T	A	19: 10,706,205		probably null	Het
Wwp2	A	G	8: 107,548,535	D388G	probably damaging	Het
Xirp2	A	T	2: 67,524,992	T3366S	probably benign	Het
Zbtb49	A	C	5: 38,203,357		probably benign	Het

Other mutations in Ces1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Ces1a	APN	8	93020467	missense	probably damaging	1.00
IGL00556:Ces1a	APN	8	93045059	missense	probably benign	0.03
IGL00841:Ces1a	APN	8	93039536	nonsense	probably null
IGL01510:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01511:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01518:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01519:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01520:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01526:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01527:Ces1a	APN	8	93045098	missense	probably damaging	1.00
IGL01828:Ces1a	APN	8	93025201	missense	probably damaging	0.96
IGL01934:Ces1a	APN	8	93032650	missense	probably damaging	0.99
IGL02456:Ces1a	APN	8	93039498	missense	possibly damaging	0.56
IGL02712:Ces1a	APN	8	93036040	missense	probably damaging	1.00
IGL02982:Ces1a	APN	8	93044975	missense	probably damaging	1.00
IGL03178:Ces1a	APN	8	93020889	missense	probably damaging	1.00
IGL03377:Ces1a	APN	8	93039488	missense	probably damaging	1.00
R0556:Ces1a	UTSW	8	93045112	missense	probably benign	0.01
R0613:Ces1a	UTSW	8	93025581	missense	probably benign	0.11
R0627:Ces1a	UTSW	8	93042043	missense	probably benign	0.03
R0686:Ces1a	UTSW	8	93022449	missense	probably damaging	1.00
R0724:Ces1a	UTSW	8	93039513	missense	probably damaging	0.98
R0930:Ces1a	UTSW	8	93022416	missense	probably benign	0.00
R1063:Ces1a	UTSW	8	93022416	missense	probably benign	0.00
R1215:Ces1a	UTSW	8	93032690	missense	probably damaging	1.00
R1381:Ces1a	UTSW	8	93034031	missense	probably damaging	0.98
R1417:Ces1a	UTSW	8	93022416	missense	probably benign	0.00
R1850:Ces1a	UTSW	8	93027326	missense	probably damaging	1.00
R2072:Ces1a	UTSW	8	93048075	missense	probably benign	0.29
R2074:Ces1a	UTSW	8	93048075	missense	probably benign	0.29
R2075:Ces1a	UTSW	8	93048075	missense	probably benign	0.29
R2114:Ces1a	UTSW	8	93039551	missense	possibly damaging	0.93
R2213:Ces1a	UTSW	8	93025225	missense	probably damaging	1.00
R2346:Ces1a	UTSW	8	93025319	missense	probably benign	0.07
R2347:Ces1a	UTSW	8	93025319	missense	probably benign	0.07
R4515:Ces1a	UTSW	8	93020904	missense	probably damaging	1.00
R4587:Ces1a	UTSW	8	93025304	missense	probably damaging	1.00
R4691:Ces1a	UTSW	8	93032659	missense	probably benign	0.00
R4992:Ces1a	UTSW	8	93045022	missense	probably benign	0.08
R5074:Ces1a	UTSW	8	93032675	missense	possibly damaging	0.77
R6086:Ces1a	UTSW	8	93027353	missense	probably benign	0.03
R7390:Ces1a	UTSW	8	93044841	splice site	probably null
R8926:Ces1a	UTSW	8	93025213	missense	probably benign	0.05
R9365:Ces1a	UTSW	8	93048099	missense	probably benign	0.00
R9582:Ces1a	UTSW	8	93039528	missense	probably benign	0.33
R9636:Ces1a	UTSW	8	93032635	missense	probably benign	0.17
Z1088:Ces1a	UTSW	8	93025607	missense	probably benign	0.02
Z1176:Ces1a	UTSW	8	93036085	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- GGGCAAAACTGGATCATCTTGG -3'
(R):5'- ACGTACCTTGAACTTCTGTGG -3'

Sequencing Primer
(F):5'- GCAAAACTGGATCATCTTGGAGTCTG -3'
(R):5'- AACTTCTGTGGTCACTGCCCAG -3'

Posted On

2014-12-04