Mutagenetix > Incidental Mutation

Incidental Mutation 'R7045:Cs'

547261

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000005683

Gene Name

citrate synthase

Synonyms

Cis, 9030605P22Rik, 2610511A05Rik, ahl4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128173603-128198348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128188586 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 104 (M104K)

Ref Sequence

ENSEMBL: ENSMUSP00000005826 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005826]

AlphaFold

Q9CZU6

Predicted Effect

probably benign
Transcript: ENSMUST00000005826
AA Change: M104K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000005826
Gene: ENSMUSG00000005683
AA Change: M104K

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Citrate_synt	71	449	3.3e-120	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a central metabolic pathway enzyme, catalyzing the first step of the tricarboxylic acid cycle in which acetyl coenzyme A and oxaloacetate are converted to citrate and coenzyme A. This enzyme is found in nearly all cells capable of oxidative metabolism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a point mutation exhibit hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	A	T	12: 112,628,735 (GRCm39)	Y18*	probably null	Het
Ank2	C	A	3: 126,806,393 (GRCm39)	A583S	probably damaging	Het
Aoc1l3	T	C	6: 48,965,546 (GRCm39)	V518A	possibly damaging	Het
Atp8b4	T	C	2: 126,214,115 (GRCm39)	N706S	probably benign	Het
Bace2	A	G	16: 97,200,865 (GRCm39)	N111S	probably damaging	Het
Cnp	A	T	11: 100,471,184 (GRCm39)	R275S	probably benign	Het
Ctcfl	G	A	2: 172,954,167 (GRCm39)	T310I	probably damaging	Het
Cyp2d40	T	C	15: 82,645,763 (GRCm39)	I81V	probably benign	Het
Ddx19a	A	G	8: 111,719,706 (GRCm39)	V30A	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Dock6	G	A	9: 21,733,107 (GRCm39)	A1062V	probably damaging	Het
Dpysl2	T	C	14: 67,067,395 (GRCm39)	D172G	probably benign	Het
Eml2	A	G	7: 18,935,504 (GRCm39)	D638G	probably damaging	Het
Epb41l4b	C	A	4: 57,103,522 (GRCm39)	A105S	possibly damaging	Het
Fat4	A	G	3: 38,942,750 (GRCm39)	I548V	probably benign	Het
Gabrb2	G	A	11: 42,484,758 (GRCm39)	A272T	probably damaging	Het
Gask1a	T	C	9: 121,794,707 (GRCm39)	L287P	probably damaging	Het
Hcn1	C	T	13: 118,111,998 (GRCm39)	P654L	unknown	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,122,349 (GRCm39)	G477C	probably damaging	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Kiss1r	A	G	10: 79,755,259 (GRCm39)		probably null	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Loxl4	G	T	19: 42,595,074 (GRCm39)	N200K	probably damaging	Het
Lrba	T	C	3: 86,192,398 (GRCm39)	V104A	probably benign	Het
Lyst	T	A	13: 13,812,293 (GRCm39)	C902S	probably damaging	Het
Lyst	T	A	13: 13,809,485 (GRCm39)	V385D	probably benign	Het
Mrpl28	T	C	17: 26,345,261 (GRCm39)	F227S	probably benign	Het
Mtmr3	A	T	11: 4,448,896 (GRCm39)	V289E	possibly damaging	Het
Ndst3	A	G	3: 123,465,732 (GRCm39)	V80A	probably damaging	Het
Nid2	C	T	14: 19,829,749 (GRCm39)	A680V	possibly damaging	Het
Nudcd1	T	C	15: 44,269,226 (GRCm39)	N145D	probably benign	Het
Nup210	A	T	6: 91,031,433 (GRCm39)	I812N	probably damaging	Het
Or2ak6	A	T	11: 58,592,495 (GRCm39)		probably benign	Het
Or2g7	C	T	17: 38,378,862 (GRCm39)	H267Y	probably benign	Het
Or2y17	A	T	11: 49,231,757 (GRCm39)	T133S	probably damaging	Het
Or52n4b	A	G	7: 108,144,452 (GRCm39)	K238R	probably damaging	Het
Or5b114-ps1	C	A	19: 13,352,336 (GRCm39)	N3K	probably damaging	Het
Or8c11	T	A	9: 38,289,729 (GRCm39)	M184K	probably damaging	Het
Or8k16	A	G	2: 85,520,255 (GRCm39)	S161G	possibly damaging	Het
Pcdhb6	A	C	18: 37,469,329 (GRCm39)	Q750P	possibly damaging	Het
Plppr4	T	C	3: 117,153,683 (GRCm39)	Y72C	probably damaging	Het
Rasgrf2	G	T	13: 92,159,100 (GRCm39)		probably benign	Het
Sbk2	A	G	7: 4,961,905 (GRCm39)	I127T	probably damaging	Het
Smchd1	A	C	17: 71,722,039 (GRCm39)	S817A	probably benign	Het
Speer4b	A	T	5: 27,705,123 (GRCm39)	N83K	probably damaging	Het
Strc	A	T	2: 121,201,207 (GRCm39)	L1296Q	probably damaging	Het
Thap11	C	A	8: 106,582,215 (GRCm39)	R75S	possibly damaging	Het
Unc13a	A	C	8: 72,111,407 (GRCm39)	L268R	possibly damaging	Het
Zfp39	A	T	11: 58,781,269 (GRCm39)	C498S	unknown	Het
Zfp507	T	C	7: 35,494,978 (GRCm39)	T22A	possibly damaging	Het
Zfp85	T	C	13: 67,897,712 (GRCm39)	Y120C	probably benign	Het
Zfp882	G	A	8: 72,667,093 (GRCm39)		probably null	Het

Other mutations in Cs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Cs	APN	10	128,195,912 (GRCm39)	missense	probably damaging	0.98
IGL00572:Cs	APN	10	128,196,833 (GRCm39)	unclassified	probably benign
IGL02693:Cs	APN	10	128,185,678 (GRCm39)	splice site	probably benign
R1792:Cs	UTSW	10	128,195,948 (GRCm39)	missense	possibly damaging	0.84
R3606:Cs	UTSW	10	128,195,892 (GRCm39)	missense	probably benign	0.35
R4032:Cs	UTSW	10	128,196,913 (GRCm39)	missense	probably damaging	1.00
R4657:Cs	UTSW	10	128,189,006 (GRCm39)	missense	probably benign	0.00
R5654:Cs	UTSW	10	128,187,086 (GRCm39)	missense	possibly damaging	0.80
R7896:Cs	UTSW	10	128,189,004 (GRCm39)	missense	probably damaging	1.00
R7913:Cs	UTSW	10	128,186,310 (GRCm39)	missense	possibly damaging	0.88
R9028:Cs	UTSW	10	128,188,952 (GRCm39)	missense
R9629:Cs	UTSW	10	128,196,885 (GRCm39)	missense	probably damaging	1.00
R9650:Cs	UTSW	10	128,196,856 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- AATAGCCAGGTGTGCTCGTG -3'
(R):5'- TTTAAACTCTAGCTATGGGCAGG -3'

Sequencing Primer
(F):5'- TGGTACAAGTGCCACACTG -3'
(R):5'- CAGGTGGAGAGTACATTTTGACTAG -3'

Posted On

2019-05-13