Mutagenetix > Incidental Mutation

Incidental Mutation 'R7896:Cs'

609695

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000005683

Gene Name

citrate synthase

Synonyms

Cis, 9030605P22Rik, 2610511A05Rik, ahl4

MMRRC Submission

045948-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128173603-128198348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128189004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 171 (A171V)

Ref Sequence

ENSEMBL: ENSMUSP00000005826 (fasta)

Gene Model

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

AlphaFold

Q9CZU6

Predicted Effect

probably damaging
Transcript: ENSMUST00000005826
AA Change: A171V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005826
Gene: ENSMUSG00000005683
AA Change: A171V

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

Meta Mutation Damage Score

0.7076

Coding Region Coverage

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

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,840,792 (GRCm39)	T894A	probably damaging	Het
Abcc10	T	A	17: 46,635,235 (GRCm39)	H256L	probably benign	Het
Abcc6	A	G	7: 45,626,803 (GRCm39)	L1418P	probably damaging	Het
Actn2	G	A	13: 12,309,203 (GRCm39)	A290V	possibly damaging	Het
Actrt2	A	T	4: 154,751,652 (GRCm39)	D161E	probably benign	Het
Adam19	T	A	11: 46,028,370 (GRCm39)	C668S	probably damaging	Het
Alg8	T	C	7: 97,040,123 (GRCm39)	L435S	probably damaging	Het
Amz2	G	A	11: 109,327,413 (GRCm39)	E322K	possibly damaging	Het
Ankrd12	T	A	17: 66,292,680 (GRCm39)	R918*	probably null	Het
Atp5pb	A	G	3: 105,863,259 (GRCm39)	I59T	probably damaging	Het
Bach1	T	A	16: 87,515,893 (GRCm39)	C145S	possibly damaging	Het
Bcl6b	G	T	11: 70,117,848 (GRCm39)	S309*	probably null	Het
Birc6	G	T	17: 74,929,077 (GRCm39)	R2323L	probably damaging	Het
Catspere2	A	T	1: 177,938,740 (GRCm39)	M538L	probably benign	Het
Ccdc154	A	T	17: 25,390,800 (GRCm39)	M647L	probably benign	Het
Cdc14a	T	C	3: 116,088,482 (GRCm39)	T447A	probably benign	Het
Chst9	C	T	18: 15,585,846 (GRCm39)	R239H	probably damaging	Het
D3Ertd751e	T	A	3: 41,710,508 (GRCm39)	F107I	probably benign	Het
D430041D05Rik	T	C	2: 104,088,385 (GRCm39)	D197G	probably benign	Het
Dcdc2c	G	A	12: 28,520,619 (GRCm39)	Q486*	probably null	Het
Dolk	A	T	2: 30,175,961 (GRCm39)	V28E	possibly damaging	Het
Dpf2	C	T	19: 5,954,333 (GRCm39)	S191N	probably benign	Het
Eml3	T	A	19: 8,911,171 (GRCm39)	F267I	possibly damaging	Het
Entrep2	T	C	7: 64,426,557 (GRCm39)	H232R	probably damaging	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Foxo3	T	C	10: 42,073,732 (GRCm39)	S262G	possibly damaging	Het
Gm1527	T	G	3: 28,975,742 (GRCm39)		probably null	Het
Gm49380	G	A	9: 44,024,096 (GRCm39)	L51F	probably damaging	Het
Gm9195	A	T	14: 72,693,178 (GRCm39)	H1582Q	unknown	Het
Grip1	A	G	10: 119,814,450 (GRCm39)	Q327R	possibly damaging	Het
Gstt1	A	G	10: 75,619,976 (GRCm39)	F207S	probably damaging	Het
Itsn1	G	A	16: 91,615,446 (GRCm39)	R397H	unknown	Het
Kif16b	A	G	2: 142,675,995 (GRCm39)		probably null	Het
Kif5a	A	G	10: 127,077,873 (GRCm39)	V407A	probably benign	Het
Lrrc57	C	A	2: 120,438,372 (GRCm39)	D134Y	probably damaging	Het
Map1a	A	G	2: 121,135,657 (GRCm39)	T2158A	probably benign	Het
Mink1	A	G	11: 70,503,108 (GRCm39)	N1068S	possibly damaging	Het
Mmp8	A	T	9: 7,564,978 (GRCm39)	I295F	probably damaging	Het
Muc21	G	A	17: 35,930,917 (GRCm39)	P1090S	unknown	Het
Mup18	G	T	4: 61,590,925 (GRCm39)		probably null	Het
Myo1h	G	T	5: 114,474,372 (GRCm39)		probably null	Het
Nap1l5	C	T	6: 58,883,505 (GRCm39)	G52S	probably damaging	Het
Npr3	A	G	15: 11,883,448 (GRCm39)	F327S	probably damaging	Het
Nrxn2	C	A	19: 6,582,083 (GRCm39)	Q1673K	possibly damaging	Het
Or13a20	G	T	7: 140,232,814 (GRCm39)	L307F	probably benign	Het
Or2r3	T	A	6: 42,449,100 (GRCm39)	D4V	probably benign	Het
Paf1	T	C	7: 28,096,072 (GRCm39)	Y260H	probably damaging	Het
Pcmtd2	T	C	2: 181,496,776 (GRCm39)	I251T	probably damaging	Het
Pde9a	C	T	17: 31,678,941 (GRCm39)	Q261*	probably null	Het
Ppip5k1	T	C	2: 121,177,811 (GRCm39)	D332G	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Ppp1r36	A	G	12: 76,474,923 (GRCm39)		probably null	Het
Pprc1	T	C	19: 46,049,888 (GRCm39)	L67P	unknown	Het
Prkdc	T	G	16: 15,526,767 (GRCm39)	L1346R	probably damaging	Het
Prl7c1	A	T	13: 27,962,070 (GRCm39)	M79K	possibly damaging	Het
Ptprb	C	T	10: 116,205,362 (GRCm39)		probably null	Het
R3hdm1	T	A	1: 128,096,703 (GRCm39)		probably null	Het
Ralgapa1	A	G	12: 55,744,663 (GRCm39)	V1276A	probably benign	Het
Rapsn	T	C	2: 90,875,300 (GRCm39)	L361P	probably benign	Het
Rbm22	G	T	18: 60,702,505 (GRCm39)	A275S	probably benign	Het
Rsph3a	A	G	17: 8,164,940 (GRCm39)	Y100C	probably damaging	Het
Rsrp1	A	T	4: 134,651,274 (GRCm39)	M13L	unknown	Het
Rtn4	T	G	11: 29,655,536 (GRCm39)	D169E	probably damaging	Het
Setd7	C	A	3: 51,444,077 (GRCm39)		probably null	Het
Slc38a2	A	G	15: 96,591,466 (GRCm39)	I206T	probably damaging	Het
Slc9a8	T	C	2: 167,307,278 (GRCm39)	F321L	probably benign	Het
Sppl2c	A	G	11: 104,077,956 (GRCm39)	D252G	possibly damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,689,458 (GRCm39)		probably benign	Het
Syne2	A	G	12: 76,082,397 (GRCm39)	T117A	probably damaging	Het
Szt2	A	T	4: 118,260,110 (GRCm39)	F79I	possibly damaging	Het
Tlr3	T	A	8: 45,850,090 (GRCm39)	K860*	probably null	Het
Ttn	T	C	2: 76,625,018 (GRCm39)	S15187G	probably benign	Het
Ubr5	A	G	15: 38,041,817 (GRCm39)	V204A	probably benign	Het
Unc5c	A	T	3: 141,476,922 (GRCm39)	T363S	possibly damaging	Het
Usp40	G	A	1: 87,906,201 (GRCm39)	T678I	possibly damaging	Het
Vmn1r62	A	T	7: 5,678,609 (GRCm39)	T97S	probably damaging	Het
Vmn1r85	T	A	7: 12,818,448 (GRCm39)	H232L	probably benign	Het
Vmn2r67	A	G	7: 84,785,920 (GRCm39)	I695T	probably damaging	Het
Zfp383	C	A	7: 29,611,626 (GRCm39)	D35E	probably damaging	Het
Zfp65	A	T	13: 67,877,174 (GRCm39)		probably null	Het
Zfp692	A	G	11: 58,205,062 (GRCm39)	K437R	probably damaging	Het
Zfp831	A	T	2: 174,488,921 (GRCm39)	T1199S	possibly damaging	Het
Zfr	T	A	15: 12,146,463 (GRCm39)	I338N	probably damaging	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
R7045:Cs	UTSW	10	128,188,586 (GRCm39)	missense	probably benign	0.00
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'- GAGAAGTATCAGCAGAGTCTGACC -3'
(R):5'- ACATTTTGGGGACTGAACTTGG -3'

Sequencing Primer
(F):5'- CCTGAGTGGATTGTACTGAACCC -3'
(R):5'- TGAACTTGGGGCCTCACTCATG -3'

Posted On

2019-12-20