Mutagenetix > Incidental Mutation

Incidental Mutation 'R9395:Csl'

710794

Institutional Source

Beutler Lab

Gene Symbol

Csl

Ensembl Gene

ENSMUSG00000046934

Gene Name

citrate synthase like

Synonyms

1700007H16Rik

MMRRC Submission

068965-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

R9395 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99593567-99595346 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99595020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 15 (N15I)

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: N15I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052373
Gene: ENSMUSG00000046934
AA Change: N15I

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: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh7	A	T	3: 137,927,477 (GRCm39)	I8F	probably damaging	Het
Ak1	A	G	2: 32,523,708 (GRCm39)	D207G	probably damaging	Het
Arhgef28	TAA	TA	13: 98,103,692 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Cgnl1	T	C	9: 71,539,954 (GRCm39)	M1097V	probably benign	Het
Chrm2	G	A	6: 36,501,196 (GRCm39)	G351D	possibly damaging	Het
Cntnap2	C	A	6: 45,978,244 (GRCm39)	R300S	probably damaging	Het
Cpa5	T	C	6: 30,631,280 (GRCm39)	L398P	probably damaging	Het
Csrp3	A	T	7: 48,489,231 (GRCm39)	V17D	probably damaging	Het
Cyb5d1	T	C	11: 69,284,531 (GRCm39)	N207S	probably benign	Het
Ecel1	A	T	1: 87,082,350 (GRCm39)	I121N	probably damaging	Het
Elapor2	T	C	5: 9,477,822 (GRCm39)	S407P	probably benign	Het
Gad2	T	C	2: 22,514,879 (GRCm39)	L119P	probably damaging	Het
Gpr139	A	T	7: 118,743,811 (GRCm39)	M258K	probably benign	Het
Hhipl1	A	G	12: 108,285,009 (GRCm39)	Y454C	probably damaging	Het
Ifitm10	A	T	7: 141,924,704 (GRCm39)	V45D	probably damaging	Het
Lpl	T	A	8: 69,353,952 (GRCm39)	I431N	probably damaging	Het
Myh14	A	T	7: 44,274,584 (GRCm39)	W1235R	possibly damaging	Het
Nacc2	A	G	2: 25,950,128 (GRCm39)	V536A	probably damaging	Het
Nalf2	C	T	X: 98,889,097 (GRCm39)	R321W	probably damaging	Het
Neu4	T	A	1: 93,950,218 (GRCm39)	L59Q	probably damaging	Het
Obscn	T	A	11: 58,946,871 (GRCm39)	I4088F	probably damaging	Het
Or8b37	T	C	9: 37,959,136 (GRCm39)	V206A	probably damaging	Het
Otof	G	A	5: 30,532,976 (GRCm39)	R1589C	probably damaging	Het
Pla2g3	C	T	11: 3,440,952 (GRCm39)	Q306*	probably null	Het
Pramel12	A	G	4: 143,145,605 (GRCm39)	E358G	probably benign	Het
Prl6a1	A	T	13: 27,499,400 (GRCm39)	H56L	possibly damaging	Het
Rev3l	T	C	10: 39,735,219 (GRCm39)		probably null	Het
Rims2	T	A	15: 39,155,664 (GRCm39)	F115Y	probably damaging	Het
Spcs2	T	C	7: 99,488,924 (GRCm39)	T221A	probably benign	Het
Stmn1	C	T	4: 134,200,146 (GRCm39)	A73V	probably damaging	Het
Syne1	T	A	10: 5,261,728 (GRCm39)	K2250I	probably damaging	Het
Tcf7l2	C	T	19: 55,920,200 (GRCm39)	Q578*	probably null	Het
Tgtp2	A	T	11: 48,950,083 (GRCm39)	M163K	probably benign	Het
Ttn	T	C	2: 76,542,006 (GRCm39)	N33660S	probably benign	Het
Txndc11	A	G	16: 10,902,683 (GRCm39)	F655L	probably benign	Het
Ubtf	G	A	11: 102,205,026 (GRCm39)	T86I	probably damaging	Het
Vmn2r89	T	A	14: 51,693,783 (GRCm39)	W378R	probably damaging	Het
Zic1	T	A	9: 91,247,070 (GRCm39)	M1L	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGCCCTCATCAGGATCAAG -3'
(R):5'- TTGAGCTCAGCCTTTCAACATC -3'

Sequencing Primer
(F):5'- TCAGGATCAAGAACCGATGTCTC -3'
(R):5'- TCAACATCACTGGCGGTTG -3'

Posted On

2022-04-18