Mutagenetix > Incidental Mutation

Incidental Mutation 'R2284:Csl'

243252

Institutional Source

Beutler Lab

Gene Symbol

Csl

Ensembl Gene

ENSMUSG00000046934

Gene Name

citrate synthase like

Synonyms

1700007H16Rik

MMRRC Submission

040283-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

R2284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99593567-99595346 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99594321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 248 (D248V)

Ref Sequence

ENSEMBL: ENSMUSP00000052373 (fasta)

Gene Model

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

AlphaFold

Q80X68

PDB Structure

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056085
AA Change: D248V

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052373
Gene: ENSMUSG00000046934
AA Change: D248V

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	C	T	16: 22,976,237 (GRCm39)	Q213*	probably null	Het
Adsl	C	T	15: 80,848,096 (GRCm39)	P278L	probably damaging	Het
Bcas2	T	C	3: 103,085,678 (GRCm39)	S187P	probably damaging	Het
Ccdc88a	T	C	11: 29,444,099 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,491,193 (GRCm39)		probably benign	Het
Dip2a	A	C	10: 76,149,027 (GRCm39)	V247G	probably benign	Het
Fat2	T	C	11: 55,173,186 (GRCm39)	D2509G	probably damaging	Het
Gldn	G	A	9: 54,193,849 (GRCm39)	W14*	probably null	Het
Gm5698	C	T	1: 31,016,964 (GRCm39)	R29Q	possibly damaging	Het
Gm5830	A	T	1: 78,945,415 (GRCm39)		noncoding transcript	Het
Gtf2ird2	A	G	5: 134,246,025 (GRCm39)	D761G	probably benign	Het
Hdac10	T	C	15: 89,011,607 (GRCm39)	Q159R	probably benign	Het
Hhatl	T	C	9: 121,618,648 (GRCm39)	Y118C	probably damaging	Het
Iho1	C	T	9: 108,298,672 (GRCm39)	E49K	probably damaging	Het
Klrd1	A	G	6: 129,575,344 (GRCm39)	H127R	probably benign	Het
Krtap31-1	C	T	11: 99,799,081 (GRCm39)	Q95*	probably null	Het
Map2	C	T	1: 66,453,227 (GRCm39)	P548S	probably damaging	Het
Mki67	A	G	7: 135,301,674 (GRCm39)	V1120A	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Muc6	T	C	7: 141,217,837 (GRCm39)	T2279A	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nlrp1b	A	G	11: 71,047,110 (GRCm39)	S1084P	probably benign	Het
Nr2f1	C	A	13: 78,343,581 (GRCm39)	V81F	probably damaging	Het
Nrxn3	T	A	12: 89,477,135 (GRCm39)	N803K	probably damaging	Het
Or5l14	A	G	2: 87,793,137 (GRCm39)	L33P	probably damaging	Het
Ptpre	A	G	7: 135,271,510 (GRCm39)	H375R	probably benign	Het
Tsc1	G	A	2: 28,555,109 (GRCm39)	V200I	possibly damaging	Het
Vmn1r42	A	G	6: 89,821,681 (GRCm39)	I296T	probably benign	Het
Vmn1r67	A	T	7: 10,181,600 (GRCm39)	H288L	probably damaging	Het
Vmn2r45	A	T	7: 8,488,765 (GRCm39)	N88K	probably benign	Het
Wt1	A	G	2: 105,002,666 (GRCm39)	T511A	probably benign	Het

Other mutations in Csl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02523:Csl	APN	10	99,594,675 (GRCm39)	missense	probably benign	0.39
R1519:Csl	UTSW	10	99,593,817 (GRCm39)	missense	probably damaging	1.00
R2882:Csl	UTSW	10	99,594,787 (GRCm39)	missense	probably damaging	1.00
R4128:Csl	UTSW	10	99,594,462 (GRCm39)	missense	probably benign	0.02
R4424:Csl	UTSW	10	99,594,453 (GRCm39)	missense	possibly damaging	0.82
R4819:Csl	UTSW	10	99,593,944 (GRCm39)	missense	possibly damaging	0.81
R4876:Csl	UTSW	10	99,594,402 (GRCm39)	missense	possibly damaging	0.93
R5700:Csl	UTSW	10	99,594,877 (GRCm39)	missense	probably damaging	0.97
R6463:Csl	UTSW	10	99,594,960 (GRCm39)	missense	probably damaging	0.99
R8064:Csl	UTSW	10	99,594,407 (GRCm39)	missense	probably damaging	1.00
R8161:Csl	UTSW	10	99,594,182 (GRCm39)	missense	probably damaging	1.00
R8296:Csl	UTSW	10	99,594,161 (GRCm39)	missense	probably damaging	1.00
R8317:Csl	UTSW	10	99,594,900 (GRCm39)	missense	probably damaging	1.00
R8696:Csl	UTSW	10	99,594,826 (GRCm39)	missense	probably damaging	1.00
R9134:Csl	UTSW	10	99,594,237 (GRCm39)	missense	probably damaging	1.00
R9395:Csl	UTSW	10	99,595,020 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GATGCATCTTCGCCAACTTC -3'
(R):5'- CCGAACTAAGTACTGGGAGCTC -3'

Sequencing Primer
(F):5'- GACAAGCACCTCCTGATTTGCTAG -3'
(R):5'- CTAAGTACTGGGAGCTCACCTATG -3'

Posted On

2014-10-16