Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03087:Ces1c'

418133

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ces1c

Ensembl Gene

ENSMUSG00000057400

Gene Name

carboxylesterase 1C

Synonyms

Ces-N, Es-N, Es-1, Ee-1, Es-4, Es1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

93825643-93857911 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93845042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 120 (I120V)

Ref Sequence

ENSEMBL: ENSMUSP00000148619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034189] [ENSMUST00000211843]

AlphaFold

P23953

Predicted Effect

probably benign
Transcript: ENSMUST00000034189
AA Change: I266V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034189
Gene: ENSMUSG00000057400
AA Change: I266V

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	534	4e-167	PFAM
Pfam:Abhydrolase_3	136	235	6.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000211843
AA Change: I120V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212091

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection against nerve agents such as chlorpyrifos and chlorpyrifos oxon but increased sensitivity to soman coumarin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 25,202,630 (GRCm39)		probably benign	Het
Acbd5	A	G	2: 22,979,722 (GRCm39)	T261A	probably benign	Het
Ap1g2	G	A	14: 55,340,493 (GRCm39)	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,173,066 (GRCm39)	T150A	probably benign	Het
Arid4a	G	T	12: 71,122,019 (GRCm39)	R478L	possibly damaging	Het
Bard1	T	C	1: 71,106,289 (GRCm39)	D446G	probably damaging	Het
Baz2a	T	C	10: 127,958,182 (GRCm39)	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,624,390 (GRCm39)	L279P	possibly damaging	Het
Bphl	A	T	13: 34,257,694 (GRCm39)	H275L	probably damaging	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
Dnah8	G	A	17: 31,003,118 (GRCm39)	V3606I	probably benign	Het
Eef2	A	G	10: 81,017,081 (GRCm39)	N696S	probably benign	Het
Eno4	A	G	19: 58,951,248 (GRCm39)	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,531,779 (GRCm39)		probably benign	Het
Fbxo25	T	C	8: 13,974,019 (GRCm39)		probably null	Het
Glt8d1	T	A	14: 30,732,053 (GRCm39)	F155I	probably damaging	Het
Golim4	A	T	3: 75,785,980 (GRCm39)	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,185,460 (GRCm39)	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,359,892 (GRCm39)	*333L	probably null	Het
Ift88	T	C	14: 57,715,414 (GRCm39)	S486P	probably benign	Het
Igsf9	T	C	1: 172,318,310 (GRCm39)	I150T	probably benign	Het
Jag2	G	A	12: 112,877,568 (GRCm39)	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,291,652 (GRCm39)	I280N	probably benign	Het
Kif18a	A	G	2: 109,148,462 (GRCm39)		probably benign	Het
Lct	A	G	1: 128,228,112 (GRCm39)	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,692,705 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,641 (GRCm39)	I437N	probably damaging	Het
Map3k1	A	G	13: 111,885,559 (GRCm39)	S1453P	probably benign	Het
Mcmdc2	A	G	1: 10,001,170 (GRCm39)	M482V	possibly damaging	Het
Mical1	T	C	10: 41,358,686 (GRCm39)	S535P	probably damaging	Het
Myh3	T	C	11: 66,981,798 (GRCm39)	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,785,499 (GRCm39)	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,486,280 (GRCm39)		probably benign	Het
Neurod6	A	T	6: 55,655,760 (GRCm39)	C292*	probably null	Het
Or12j3	T	A	7: 139,953,005 (GRCm39)	I173F	probably damaging	Het
Or4c12b	A	G	2: 89,647,015 (GRCm39)	E109G	probably damaging	Het
Or5j1	A	T	2: 86,879,356 (GRCm39)	S75T	possibly damaging	Het
Or6c76	A	T	10: 129,612,130 (GRCm39)	M116L	probably damaging	Het
Or7g16	T	C	9: 18,727,380 (GRCm39)	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,278,735 (GRCm39)	N572D	probably damaging	Het
Pfpl	A	G	19: 12,406,241 (GRCm39)	N164S	probably benign	Het
Pi4kb	A	G	3: 94,892,075 (GRCm39)	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,458,923 (GRCm39)	F10I	probably benign	Het
Rag2	G	A	2: 101,460,559 (GRCm39)	V290I	probably benign	Het
Rhot2	G	A	17: 26,060,115 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,603,908 (GRCm39)	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,488,830 (GRCm39)	A495D	possibly damaging	Het
Septin4	T	A	11: 87,476,071 (GRCm39)		probably benign	Het
Serpina5	G	T	12: 104,067,992 (GRCm39)	A18S	probably benign	Het
Slc25a11	T	C	11: 70,536,033 (GRCm39)	T234A	probably benign	Het
Slc44a2	C	T	9: 21,258,061 (GRCm39)	T435I	probably benign	Het
Tekt2	T	A	4: 126,218,660 (GRCm39)	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,274,389 (GRCm39)	V199A	possibly damaging	Het
Trap1	G	T	16: 3,862,565 (GRCm39)		probably null	Het
Trmt1	A	G	8: 85,421,862 (GRCm39)	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,177,668 (GRCm39)	R3184*	probably null	Het
Uroc1	G	T	6: 90,340,085 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,476 (GRCm39)	I10V	probably benign	Het
Zfhx2	G	A	14: 55,310,302 (GRCm39)	A748V	possibly damaging	Het

Other mutations in Ces1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Ces1c	APN	8	93,833,301 (GRCm39)	missense	probably benign	0.02
IGL00558:Ces1c	APN	8	93,825,899 (GRCm39)	missense	probably benign	0.03
IGL00787:Ces1c	APN	8	93,846,994 (GRCm39)	missense	possibly damaging	0.90
IGL00851:Ces1c	APN	8	93,849,745 (GRCm39)	missense	probably benign	0.00
IGL01598:Ces1c	APN	8	93,845,041 (GRCm39)	missense	probably benign
IGL02616:Ces1c	APN	8	93,833,243 (GRCm39)	missense	probably benign	0.01
IGL03203:Ces1c	APN	8	93,851,216 (GRCm39)	missense	probably damaging	1.00
R0119:Ces1c	UTSW	8	93,834,238 (GRCm39)	missense	probably benign	0.00
R0119:Ces1c	UTSW	8	93,833,345 (GRCm39)	unclassified	probably benign
R0255:Ces1c	UTSW	8	93,854,152 (GRCm39)	missense	probably benign
R0759:Ces1c	UTSW	8	93,857,492 (GRCm39)	nonsense	probably null
R1499:Ces1c	UTSW	8	93,854,233 (GRCm39)	missense	probably benign	0.01
R1926:Ces1c	UTSW	8	93,854,232 (GRCm39)	missense	possibly damaging	0.69
R2087:Ces1c	UTSW	8	93,834,230 (GRCm39)	missense	probably benign	0.00
R2142:Ces1c	UTSW	8	93,857,468 (GRCm39)	missense	probably benign
R2442:Ces1c	UTSW	8	93,849,840 (GRCm39)	missense	probably damaging	1.00
R2971:Ces1c	UTSW	8	93,830,821 (GRCm39)	missense	probably benign	0.01
R3079:Ces1c	UTSW	8	93,846,975 (GRCm39)	missense	probably damaging	1.00
R3080:Ces1c	UTSW	8	93,846,975 (GRCm39)	missense	probably damaging	1.00
R3609:Ces1c	UTSW	8	93,846,960 (GRCm39)	missense	probably damaging	1.00
R4131:Ces1c	UTSW	8	93,827,312 (GRCm39)	missense	probably damaging	1.00
R4633:Ces1c	UTSW	8	93,845,014 (GRCm39)	missense	probably benign	0.00
R4988:Ces1c	UTSW	8	93,827,336 (GRCm39)	missense	probably damaging	1.00
R5081:Ces1c	UTSW	8	93,854,197 (GRCm39)	missense	probably damaging	1.00
R5497:Ces1c	UTSW	8	93,857,343 (GRCm39)	missense	possibly damaging	0.91
R5586:Ces1c	UTSW	8	93,854,227 (GRCm39)	missense	probably benign	0.00
R7013:Ces1c	UTSW	8	93,857,392 (GRCm39)	missense	probably damaging	1.00
R7137:Ces1c	UTSW	8	93,857,470 (GRCm39)	missense	probably benign	0.02
R7611:Ces1c	UTSW	8	93,851,139 (GRCm39)	missense	probably benign	0.00
R7882:Ces1c	UTSW	8	93,833,231 (GRCm39)	missense	probably benign
R8280:Ces1c	UTSW	8	93,825,809 (GRCm39)	missense	possibly damaging	0.53
R8705:Ces1c	UTSW	8	93,857,518 (GRCm39)	missense	probably benign
R8752:Ces1c	UTSW	8	93,846,964 (GRCm39)	missense	probably damaging	1.00
R8896:Ces1c	UTSW	8	93,833,254 (GRCm39)	missense	probably benign
R9470:Ces1c	UTSW	8	93,830,746 (GRCm39)	critical splice donor site	probably null

Posted On

2016-08-02