Mutagenetix > Incidental Mutation

Incidental Mutation 'R8064:Csl'

619911

Institutional Source

Beutler Lab

Gene Symbol

Csl

Ensembl Gene

ENSMUSG00000046934

Gene Name

citrate synthase like

Synonyms

1700007H16Rik

MMRRC Submission

067500-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

R8064 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99593567-99595346 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99594407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 219 (N219K)

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

probably damaging
Transcript: ENSMUST00000056085
AA Change: N219K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052373
Gene: ENSMUSG00000046934
AA Change: N219K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	A	T	8: 25,171,566 (GRCm39)	V755D	probably benign	Het
Adgrb3	A	T	1: 25,459,637 (GRCm39)		probably null	Het
Anapc2	T	C	2: 25,166,418 (GRCm39)	V395A	probably benign	Het
Apol11b	A	G	15: 77,519,417 (GRCm39)	V221A	not run	Het
Arhgef28	T	A	13: 98,115,002 (GRCm39)	Y616F	probably benign	Het
Brdt	C	A	5: 107,525,862 (GRCm39)	S905*	probably null	Het
Ccdc54	T	A	16: 50,410,327 (GRCm39)	H313L	probably benign	Het
Chuk	A	G	19: 44,071,115 (GRCm39)	L530P	probably damaging	Het
Cyp2j5	A	G	4: 96,546,948 (GRCm39)	S189P	probably damaging	Het
Cyp4a14	A	T	4: 115,352,155 (GRCm39)	C86S	probably benign	Het
Dgkg	TCTCCT	TCT	16: 22,399,344 (GRCm39)		probably null	Het
F11	C	T	8: 45,698,810 (GRCm39)	G445S	probably benign	Het
Fer	T	A	17: 64,214,418 (GRCm39)	I117N	probably benign	Het
Gpat3	A	T	5: 101,039,522 (GRCm39)	I290F	probably benign	Het
H2-M10.2	C	T	17: 36,595,442 (GRCm39)	V283M	probably damaging	Het
Hpse	G	A	5: 100,836,766 (GRCm39)	P408S	probably benign	Het
Hyou1	T	A	9: 44,296,882 (GRCm39)	N515K	possibly damaging	Het
Idh1	A	G	1: 65,205,338 (GRCm39)	L209P	probably damaging	Het
Igkv16-104	A	T	6: 68,402,875 (GRCm39)	Y56F	possibly damaging	Het
Ins2	A	G	7: 142,232,553 (GRCm39)	L77P	probably benign	Het
Kcnn2	A	T	18: 45,692,426 (GRCm39)	M1L	probably benign	Het
Kdm3b	A	T	18: 34,946,460 (GRCm39)		probably null	Het
Lysmd4	T	C	7: 66,873,398 (GRCm39)	F11S	probably damaging	Het
Macf1	T	A	4: 123,353,167 (GRCm39)	D3625V	possibly damaging	Het
Mlkl	T	A	8: 112,038,700 (GRCm39)	E459V	probably benign	Het
Nsd3	A	T	8: 26,190,698 (GRCm39)	K210*	probably null	Het
Or10ag57	C	T	2: 87,218,853 (GRCm39)	T268I	probably benign	Het
Or10q1b	T	C	19: 13,682,386 (GRCm39)	F65S	probably damaging	Het
Or52n4	T	A	7: 104,294,561 (GRCm39)	Q6L	probably benign	Het
Pcsk5	T	C	19: 17,692,225 (GRCm39)	N153S	probably damaging	Het
Rac3	T	A	11: 120,614,401 (GRCm39)	V182E	probably benign	Het
Ripk3	T	G	14: 56,025,383 (GRCm39)	E60D	possibly damaging	Het
Sacs	T	A	14: 61,429,624 (GRCm39)	I561N	possibly damaging	Het
Smad7	A	G	18: 75,527,153 (GRCm39)	Y333C	probably damaging	Het
Snhg11	T	G	2: 158,218,121 (GRCm39)	M1R	probably null	Het
Sp100	C	T	1: 85,608,860 (GRCm39)	R330*	probably null	Het
Spen	T	C	4: 141,203,011 (GRCm39)	K1872R	possibly damaging	Het
Spon1	T	A	7: 113,635,856 (GRCm39)	I690N	probably damaging	Het
Taok1	G	A	11: 77,440,130 (GRCm39)	R626*	probably null	Het
Tecta	C	T	9: 42,306,251 (GRCm39)	G59D	possibly damaging	Het
Tmem8b	T	C	4: 43,690,139 (GRCm39)	F399S	probably damaging	Het
Trank1	C	T	9: 111,181,144 (GRCm39)	Q389*	probably null	Het
Vmn1r33	G	T	6: 66,588,911 (GRCm39)	S214R	probably benign	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Vps35l	T	C	7: 118,353,147 (GRCm39)	I238T	probably damaging	Het
Zfp335	G	A	2: 164,749,620 (GRCm39)	T259I	probably damaging	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
R2284:Csl	UTSW	10	99,594,321 (GRCm39)	missense	possibly damaging	0.84
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
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'- TTCAAGGCTGCTGCAAAGG -3'
(R):5'- AATTGCACCCCATGTCTCAGC -3'

Sequencing Primer
(F):5'- CTGCTGCAAAGGACAGGTAAG -3'
(R):5'- ATGTCTCAGCTCAGTGCAG -3'

Posted On

2020-01-23