Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Ces1f'

710487

Institutional Source

Beutler Lab

Gene Symbol

Ces1f

Ensembl Gene

ENSMUSG00000031725

Gene Name

carboxylesterase 1F

Synonyms

TGH-2, CesML1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9389 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93256236-93279747 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 93269972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034178 (fasta)

Gene Model

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

AlphaFold

Q91WU0

Predicted Effect

probably null
Transcript: ENSMUST00000034178

SMART Domains

Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140026

SMART Domains

Protein: ENSMUSP00000116525
Gene: ENSMUSG00000031725

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Ranbp3l	T	A	15: 9,057,223	N322K	probably damaging	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	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
R1371:Ces1f	UTSW	8	93279649	missense	probably damaging	0.98
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
R9598:Ces1f	UTSW	8	93256866	missense	probably benign	0.27
R9745:Ces1f	UTSW	8	93263112	missense	probably benign	0.18
X0026:Ces1f	UTSW	8	93270056	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CTAGAACTGGGGATGTCTACAGC -3'
(R):5'- TCCCTGCCGCAAATGTGTAC -3'

Sequencing Primer
(F):5'- ATGTCTACAGCTCTGGGGATAC -3'
(R):5'- GCCGCAAATGTGTACCTTTTATG -3'

Posted On

2022-04-18