Mutagenetix > Incidental Mutation

Incidental Mutation 'R8161:Csl'

633529

Institutional Source

Beutler Lab

Gene Symbol

Csl

Ensembl Gene

ENSMUSG00000046934

Gene Name

citrate synthase like

Synonyms

1700007H16Rik

MMRRC Submission

067587-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.576) question?

Stock #

R8161 (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 99594182 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 294 (N294K)

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: N294K

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

SMART Domains

Protein: ENSMUSP00000052373
Gene: ENSMUSG00000046934
AA Change: N294K

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	T	C	9: 101,815,968 (GRCm39)	L51P	probably damaging	Het
Adgrb3	A	T	1: 25,133,003 (GRCm39)	M1121K	probably benign	Het
Ank2	T	C	3: 126,825,778 (GRCm39)	N371S		Het
Arhgef5	T	A	6: 43,260,885 (GRCm39)	C1437S	probably damaging	Het
Atp8b1	A	T	18: 64,690,058 (GRCm39)	L558Q	probably damaging	Het
Bsn	T	C	9: 108,016,729 (GRCm39)	K94R	probably benign	Het
Cacna2d1	T	A	5: 16,519,935 (GRCm39)	V435D	probably damaging	Het
Chd3	T	C	11: 69,241,711 (GRCm39)	N1474S	probably damaging	Het
Chd7	A	G	4: 8,855,038 (GRCm39)	D2089G	probably damaging	Het
Col11a2	T	A	17: 34,270,264 (GRCm39)	M492K	unknown	Het
Col16a1	A	T	4: 129,954,262 (GRCm39)	T502S	unknown	Het
Dnah5	T	A	15: 28,350,850 (GRCm39)	M2624K	possibly damaging	Het
Dync1li1	C	A	9: 114,535,251 (GRCm39)	H172N	probably damaging	Het
Eef1a1	C	T	9: 78,387,672 (GRCm39)	V59I	probably benign	Het
Ephb1	T	C	9: 102,072,012 (GRCm39)	K256E	probably damaging	Het
Erlin2	C	A	8: 27,518,970 (GRCm39)	T78N	probably damaging	Het
Fbxo10	A	G	4: 45,044,793 (GRCm39)	L614P	probably damaging	Het
Fer1l4	A	T	2: 155,866,555 (GRCm39)	D1555E	probably benign	Het
Gabrr2	A	G	4: 33,082,566 (GRCm39)	D230G	probably damaging	Het
Gen1	A	T	12: 11,291,465 (GRCm39)	S840T	probably benign	Het
Glyctk	G	A	9: 106,034,892 (GRCm39)	T58I	probably benign	Het
Gm12258	G	A	11: 58,750,138 (GRCm39)	A438T	unknown	Het
Gm14305	A	G	2: 176,413,298 (GRCm39)	T397A	probably benign	Het
Hnrnpu	G	T	1: 178,165,067 (GRCm39)	R24S	possibly damaging	Het
Iffo2	A	G	4: 139,302,265 (GRCm39)	N3D	possibly damaging	Het
Insr	C	T	8: 3,308,660 (GRCm39)	M125I	probably damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kcnj16	T	A	11: 110,915,341 (GRCm39)	M1K	probably null	Het
Kcns3	G	A	12: 11,169,764 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,579,562 (GRCm39)	V578A	probably benign	Het
Krt79	T	C	15: 101,839,137 (GRCm39)	K444R	probably damaging	Het
Mtg2	T	C	2: 179,727,368 (GRCm39)	V340A	probably benign	Het
Mtr	A	C	13: 12,236,372 (GRCm39)	L618R	probably damaging	Het
Myo6	T	A	9: 80,124,991 (GRCm39)	D23E	unknown	Het
Nos1ap	A	G	1: 170,218,328 (GRCm39)	V27A	probably damaging	Het
Npc1	A	T	18: 12,328,129 (GRCm39)	I1060K	possibly damaging	Het
Nrbp1	T	A	5: 31,401,193 (GRCm39)	L23*	probably null	Het
Or10ag52	T	C	2: 87,044,148 (GRCm39)	I304T	probably damaging	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or6c6c	A	T	10: 129,540,753 (GRCm39)	K2I	possibly damaging	Het
Or8b3	C	A	9: 38,314,803 (GRCm39)	T211K	probably damaging	Het
Or9s13	G	A	1: 92,548,078 (GRCm39)	R150H	probably benign	Het
Pcdhgc5	A	T	18: 37,954,615 (GRCm39)	T630S	probably damaging	Het
Pgm2	C	A	5: 64,269,503 (GRCm39)	T530K	probably damaging	Het
Phf20l1	A	T	15: 66,475,922 (GRCm39)	N185I	probably damaging	Het
Pkp2	A	G	16: 16,031,313 (GRCm39)	D26G	probably damaging	Het
Rangap1	C	T	15: 81,594,696 (GRCm39)	E378K	probably benign	Het
Rapgef1	A	C	2: 29,569,210 (GRCm39)	I43L	probably benign	Het
Rbfox1	A	G	16: 7,094,892 (GRCm39)	T111A		Het
Rptn	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA	3: 93,304,000 (GRCm39)		probably benign	Het
Spata16	A	T	3: 26,894,811 (GRCm39)	M287L	probably benign	Het
Speer4a2	T	C	5: 26,289,690 (GRCm39)	S246G	possibly damaging	Het
Stau2	A	G	1: 16,416,049 (GRCm39)	M470T	probably benign	Het
Tcf12	T	C	9: 71,922,933 (GRCm39)	Y70C	probably damaging	Het
Tsc22d1	C	T	14: 76,654,460 (GRCm39)	T313M	probably benign	Het
Vmn1r52	T	A	6: 90,156,239 (GRCm39)	M181K	possibly damaging	Het
Zbtb48	A	T	4: 152,106,567 (GRCm39)	C345S	probably damaging	Het
Zfp628	G	A	7: 4,921,958 (GRCm39)	R60Q	probably damaging	Het
Zfp638	T	C	6: 83,906,713 (GRCm39)	S293P	possibly damaging	Het
Zkscan17	G	A	11: 59,393,770 (GRCm39)	P183S	probably benign	Het
Zscan12	G	T	13: 21,547,897 (GRCm39)	K26N	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
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'- TCGCTGACAGGAATAGCGAG -3'
(R):5'- TTGAGGCCATTGACTCTAAGC -3'

Sequencing Primer
(F):5'- AATAGCGAGGGTCAGTCTTCCTC -3'
(R):5'- CCATTGACTCTAAGCTGGACTGG -3'

Posted On

2020-07-13