Mutagenetix > Incidental Mutations

Incidental Mutation 'R2882:Csl'

260352

Institutional Source

Beutler Lab

Gene Symbol

Csl

Ensembl Gene

ENSMUSG00000046934

Gene Name

citrate synthase like

Synonyms

MMRRC Submission

040470-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R2882 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99757706-99759658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 99758925 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 93 (F93L)

Ref Sequence

ENSEMBL: ENSMUSP00000052373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056085]

PDB Structure

Substrate induced remodeling of the active site regulates HtrA1 activity [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000056085
AA Change: F93L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000052373
Gene: ENSMUSG00000046934
AA Change: F93L

Domain	Start	End	E-Value	Type
Pfam:Citrate_synt	71	449	6.2e-119	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222959

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	A	13: 59,742,943	Q354H	probably benign	Het
AF529169	C	T	9: 89,602,802	V181I	possibly damaging	Het
Atp9a	T	C	2: 168,706,214	Y7C	probably damaging	Het
Atxn3	C	A	12: 101,937,411	L178F	probably damaging	Het
Cep112	T	C	11: 108,519,212	S211P	possibly damaging	Het
Cyp4f40	A	G	17: 32,668,073	I173V	probably benign	Het
Dcaf17	A	G	2: 71,082,027	I319V	possibly damaging	Het
Dock5	T	C	14: 67,839,620	Y258C	probably damaging	Het
Dpp10	T	C	1: 123,445,203	E236G	probably damaging	Het
Dpyd	A	G	3: 119,065,030	D631G	probably damaging	Het
Ewsr1	C	A	11: 5,078,523		probably benign	Het
Fat2	C	A	11: 55,311,305	L314F	probably damaging	Het
Gsdmc	T	C	15: 63,779,795	I259V	probably benign	Het
Hydin	C	T	8: 110,566,923	L3501F	possibly damaging	Het
Kdm2a	A	G	19: 4,331,184		probably null	Het
Klra1	A	T	6: 130,377,863		probably null	Het
Kremen1	CGGG	CGGGGGG	11: 5,201,791		probably benign	Het
Mlh3	A	T	12: 85,267,566	H615Q	probably damaging	Het
Mmp12	A	G	9: 7,358,236	Y374C	probably damaging	Het
Mpp2	T	C	11: 102,064,633	E97G	probably benign	Het
Oasl2	C	T	5: 114,911,023	R175C	probably damaging	Het
Olfr348	A	T	2: 36,787,190	I222F	probably damaging	Het
Pcdhac2	A	T	18: 37,145,812	Q615L	probably damaging	Het
Ppm1h	T	A	10: 122,941,334	Y502N	probably damaging	Het
Slc5a11	GGTGC	G	7: 123,239,372		probably null	Het
Tex15	T	A	8: 33,574,907	L1455*	probably null	Het
Tgm6	T	C	2: 130,137,439	V163A	probably benign	Het
Tlr5	C	T	1: 182,973,893	T240M	probably damaging	Het
Washc4	T	C	10: 83,579,501	I785T	possibly damaging	Het

Other mutations in Csl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02523:Csl	APN	10	99758813	missense	probably benign	0.39
R1519:Csl	UTSW	10	99757955	missense	probably damaging	1.00
R2284:Csl	UTSW	10	99758459	missense	possibly damaging	0.84
R4128:Csl	UTSW	10	99758600	missense	probably benign	0.02
R4424:Csl	UTSW	10	99758591	missense	possibly damaging	0.82
R4819:Csl	UTSW	10	99758082	missense	possibly damaging	0.81
R4876:Csl	UTSW	10	99758540	missense	possibly damaging	0.93
R5700:Csl	UTSW	10	99759015	missense	probably damaging	0.97
R6463:Csl	UTSW	10	99759098	missense	probably damaging	0.99
R8064:Csl	UTSW	10	99758545	missense	probably damaging	1.00
R8161:Csl	UTSW	10	99758320	missense	probably damaging	1.00
R8296:Csl	UTSW	10	99758299	missense	probably damaging	1.00
R8317:Csl	UTSW	10	99759038	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAAATTGTCCAGCATGGTGAC -3'
(R):5'- CCAGTGCTTCTTCCACGAAC -3'

Sequencing Primer
(F):5'- TCCAGCATGGTGACGACATG -3'
(R):5'- CTTCTTCCACGAACTTGAAAGACGTG -3'

Posted On

2015-01-23