Mutagenetix > Incidental Mutations

Incidental Mutation 'R1371:Ces1f'

157319

Institutional Source

Beutler Lab

Gene Symbol

Ces1f

Ensembl Gene

ENSMUSG00000031725

Gene Name

carboxylesterase 1F

Synonyms

TGH-2, CesML1

MMRRC Submission

039435-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1371 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

93256236-93279747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 93279649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 18 (G18R)

Ref Sequence

ENSEMBL: ENSMUSP00000034178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034178] [ENSMUST00000140026]

AlphaFold

Q91WU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000034178
AA Change: G18R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: G18R

Domain	Start	End	E-Value	Type
Pfam:COesterase	1	545	2.5e-166	PFAM
Pfam:Abhydrolase_3	136	244	4e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133879

Predicted Effect

unknown
Transcript: ENSMUST00000140026
AA Change: E18K

SMART Domains

Protein: ENSMUSP00000116525
Gene: ENSMUSG00000031725
AA Change: E18K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,953,553	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,899,616	T457M	probably damaging	Het
Akr1b10	C	T	6: 34,392,459	T208I	probably benign	Het
Aldh16a1	G	T	7: 45,147,250	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Asgr1	T	G	11: 70,056,097	C56W	probably benign	Het
Atp11b	T	C	3: 35,806,769	I335T	probably damaging	Het
BC061237	A	G	14: 44,504,305		probably benign	Het
Bdh1	G	T	16: 31,456,902	K280N	probably benign	Het
Bmp1	C	T	14: 70,492,466	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,280,603	E285G	probably benign	Het
Cfap43	T	A	19: 47,835,606	I109L	possibly damaging	Het
Cma2	T	C	14: 55,972,826	L56S	probably damaging	Het
Edc4	A	G	8: 105,890,750		probably benign	Het
F3	T	C	3: 121,732,510	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,445,003	S972C	probably damaging	Het
H2afy2	A	T	10: 61,749,333	D177E	possibly damaging	Het
Heatr1	T	G	13: 12,417,632	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,196,894		probably benign	Het
Ice1	T	C	13: 70,596,221	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,442,713	N194D	probably damaging	Het
Ip6k1	G	A	9: 108,045,823	V385M	probably damaging	Het
Lig1	G	A	7: 13,288,685	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,647,153	V41I	probably damaging	Het
Mst1r	T	A	9: 107,917,225	V1201E	probably damaging	Het
Myof	T	C	19: 37,903,668		probably benign	Het
Nbas	G	T	12: 13,482,378		probably benign	Het
Ndst1	A	G	18: 60,707,647	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983	G343R	probably damaging	Het
Olfr13	A	T	6: 43,174,300	T105S	probably benign	Het
Olfr1385	T	A	11: 49,494,823	C97S	probably damaging	Het
Olfr462	A	T	11: 87,889,296	I200N	probably damaging	Het
Pde4d	T	C	13: 109,117,061	S141P	probably benign	Het
Pigm	A	T	1: 172,376,814	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,662,767	I88F	probably benign	Het
Prss16	T	A	13: 22,008,686		probably benign	Het
Psmc4	G	A	7: 28,042,797		probably benign	Het
Ptger3	T	A	3: 157,567,728	C237*	probably null	Het
Recql	G	A	6: 142,372,875	T214M	probably damaging	Het
Rfx7	T	A	9: 72,619,575	V1349D	probably damaging	Het
Ros1	A	G	10: 52,087,945	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,946,809	S83T	probably benign	Het
Sall4	A	G	2: 168,756,474	Y149H	probably benign	Het
Smad1	A	G	8: 79,349,578		probably benign	Het
Snrnp70	T	C	7: 45,380,705		probably benign	Het
Spef2	C	A	15: 9,725,108		probably benign	Het
Sptlc1	T	C	13: 53,351,624	T253A	probably benign	Het
Zbbx	T	C	3: 75,052,477	Y595C	possibly damaging	Het
Zfp382	T	C	7: 30,133,689	V255A	probably benign	Het

Other mutations in Ces1f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Ces1f	APN	8	93267992	missense	probably benign
IGL01143:Ces1f	APN	8	93271830	critical splice donor site	probably null
IGL01571:Ces1f	APN	8	93258368	missense	probably benign	0.00
IGL01731:Ces1f	APN	8	93267320	missense	possibly damaging	0.73
IGL01733:Ces1f	APN	8	93270014	missense	probably damaging	1.00
IGL02124:Ces1f	APN	8	93265860	missense	possibly damaging	0.54
IGL03058:Ces1f	APN	8	93269972	critical splice donor site	probably null
IGL03124:Ces1f	APN	8	93275384	missense	probably benign
3-1:Ces1f	UTSW	8	93275431	missense	probably benign	0.29
G5030:Ces1f	UTSW	8	93274219	missense	probably benign	0.03
R0025:Ces1f	UTSW	8	93271885	missense	probably benign	0.27
R0025:Ces1f	UTSW	8	93271885	missense	probably benign	0.27
R0113:Ces1f	UTSW	8	93279699	start codon destroyed	probably null	0.93
R0201:Ces1f	UTSW	8	93267329	missense	probably null	0.01
R0306:Ces1f	UTSW	8	93276544	splice site	probably benign
R0317:Ces1f	UTSW	8	93263391	missense	probably benign	0.05
R0558:Ces1f	UTSW	8	93275389	missense	probably benign
R0791:Ces1f	UTSW	8	93271889	missense	possibly damaging	0.52
R0833:Ces1f	UTSW	8	93270024	missense	probably damaging	0.98
R0836:Ces1f	UTSW	8	93270024	missense	probably damaging	0.98
R1087:Ces1f	UTSW	8	93258295	missense	probably damaging	1.00
R1118:Ces1f	UTSW	8	93267242	splice site	probably benign
R1147:Ces1f	UTSW	8	93258281	missense	possibly damaging	0.89
R1147:Ces1f	UTSW	8	93258281	missense	possibly damaging	0.89
R1183:Ces1f	UTSW	8	93268005	missense	probably benign	0.01
R1480:Ces1f	UTSW	8	93274154	missense	probably benign	0.07
R1522:Ces1f	UTSW	8	93271889	missense	possibly damaging	0.52
R1681:Ces1f	UTSW	8	93275414	missense	probably benign	0.00
R1865:Ces1f	UTSW	8	93274265	splice site	probably benign
R2437:Ces1f	UTSW	8	93270139	splice site	probably null
R3038:Ces1f	UTSW	8	93256598	missense	probably damaging	1.00
R4199:Ces1f	UTSW	8	93256889	missense	probably benign	0.00
R4406:Ces1f	UTSW	8	93263322	missense	probably benign
R5385:Ces1f	UTSW	8	93265760	nonsense	probably null
R5450:Ces1f	UTSW	8	93265795	missense	probably benign	0.04
R5627:Ces1f	UTSW	8	93279699	start codon destroyed	probably null	0.93
R6182:Ces1f	UTSW	8	93256496	missense	probably benign	0.43
R6256:Ces1f	UTSW	8	93265794	missense	probably damaging	1.00
R6379:Ces1f	UTSW	8	93279651	missense	probably benign
R6443:Ces1f	UTSW	8	93275365	missense	probably benign	0.00
R6967:Ces1f	UTSW	8	93267997	missense	probably benign	0.00
R7158:Ces1f	UTSW	8	93268016	missense	probably benign	0.00
R7323:Ces1f	UTSW	8	93271844	missense	probably damaging	1.00
R7654:Ces1f	UTSW	8	93271934	missense	probably benign	0.00
R7810:Ces1f	UTSW	8	93256918	missense	probably damaging	1.00
R7812:Ces1f	UTSW	8	93258310	missense	probably benign	0.00
R7864:Ces1f	UTSW	8	93274141	missense	possibly damaging	0.65
R7999:Ces1f	UTSW	8	93262995	missense	possibly damaging	0.77
R9048:Ces1f	UTSW	8	93263067	missense	probably benign	0.32
R9289:Ces1f	UTSW	8	93265863	missense	probably benign	0.06
R9389:Ces1f	UTSW	8	93269972	critical splice donor site	probably null
X0026:Ces1f	UTSW	8	93270056	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CTTGATCTCAGAGTGTCCTGCACC -3'
(R):5'- ACTGCCTGGAGGTATTTGCTTGAC -3'

Sequencing Primer
(F):5'- CATGGTGTAGGCCACTTAGAG -3'
(R):5'- GCCTGTCCATGCAAGATGTT -3'

Posted On

2014-02-18