Mutagenetix > Incidental Mutation

Incidental Mutation 'R7913:Cs'

610680

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000005683

Gene Name

citrate synthase

Synonyms

Cis, 9030605P22Rik, 2610511A05Rik, ahl4

MMRRC Submission

045961-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128173603-128198348 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 128186310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 34 (K34N)

Ref Sequence

ENSEMBL: ENSMUSP00000005826 (fasta)

Gene Model

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

AlphaFold

Q9CZU6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005826
AA Change: K34N

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005826
Gene: ENSMUSG00000005683
AA Change: K34N

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

0.6512

Coding Region Coverage

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

Validation Efficiency

100% (65/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	A	G	10: 90,896,133 (GRCm39)	V324A	probably damaging	Het
Aqp8	T	A	7: 123,063,495 (GRCm39)	I115N	possibly damaging	Het
Atrn	G	A	2: 130,812,131 (GRCm39)	C692Y	probably damaging	Het
Card10	A	T	15: 78,665,303 (GRCm39)	S717T	possibly damaging	Het
Cep78	T	C	19: 15,947,941 (GRCm39)	S408G	probably benign	Het
Col24a1	G	T	3: 145,137,621 (GRCm39)	G895*	probably null	Het
Dchs1	T	C	7: 105,408,435 (GRCm39)	E1799G	possibly damaging	Het
Dlg5	A	T	14: 24,187,192 (GRCm39)		probably null	Het
Dpy19l4	A	T	4: 11,265,859 (GRCm39)	Y696*	probably null	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Fgd2	G	T	17: 29,593,019 (GRCm39)	R423L	probably damaging	Het
Fmo4	T	C	1: 162,621,741 (GRCm39)	D490G	possibly damaging	Het
Gm5113	A	T	7: 29,877,648 (GRCm39)		probably benign	Het
Grid1	T	A	14: 35,291,654 (GRCm39)	W854R	probably damaging	Het
H2-M1	T	C	17: 36,981,129 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,309,842 (GRCm39)	M694K	probably benign	Het
Hsd17b6	T	C	10: 127,833,645 (GRCm39)	T79A	possibly damaging	Het
Hspa4	A	C	11: 53,153,134 (GRCm39)	V761G	probably benign	Het
Ifi203	T	C	1: 173,754,523 (GRCm39)	Y736C	probably damaging	Het
Mettl9	T	A	7: 120,675,524 (GRCm39)	L308Q	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Ncapd3	T	A	9: 26,959,522 (GRCm39)	C319*	probably null	Het
Ncs1	C	A	2: 31,177,296 (GRCm39)		probably null	Het
Nell1	T	A	7: 49,929,270 (GRCm39)	H392Q	possibly damaging	Het
Nlrp1b	C	A	11: 71,108,537 (GRCm39)	E321D	possibly damaging	Het
Nlrp9b	A	T	7: 19,779,725 (GRCm39)	H796L	probably benign	Het
Nudt16l1	C	A	16: 4,757,245 (GRCm39)	Q53K	possibly damaging	Het
Nyap1	A	G	5: 137,733,231 (GRCm39)	S601P	probably damaging	Het
Odf2l	C	T	3: 144,859,244 (GRCm39)	Q634*	probably null	Het
Or10al2	A	T	17: 37,982,999 (GRCm39)	E28D	probably benign	Het
Or12e14	A	G	2: 87,677,037 (GRCm39)	I141V	probably benign	Het
Or1e22	A	G	11: 73,377,224 (GRCm39)	V142A	probably benign	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or5b120	T	A	19: 13,480,571 (GRCm39)	V288E	probably damaging	Het
Or5m10	T	A	2: 85,718,074 (GRCm39)	L310H	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pik3c2b	T	C	1: 133,017,799 (GRCm39)		probably null	Het
Pramel21	T	A	4: 143,341,615 (GRCm39)	Y15N	possibly damaging	Het
Prl3c1	A	G	13: 27,383,393 (GRCm39)	I40V	probably benign	Het
R3hdm4	C	T	10: 79,747,779 (GRCm39)	A229T	probably damaging	Het
Rab3gap2	T	C	1: 184,995,013 (GRCm39)	S851P	possibly damaging	Het
Ralgapb	A	T	2: 158,307,859 (GRCm39)	I1056F	probably damaging	Het
Sec16b	T	C	1: 157,356,899 (GRCm39)	Y36H	probably benign	Het
Setd3	A	T	12: 108,073,924 (GRCm39)	V451D	probably benign	Het
Slc35e1	T	C	8: 73,238,506 (GRCm39)	K334R	probably damaging	Het
Synj1	A	T	16: 90,788,315 (GRCm39)	N184K	possibly damaging	Het
Syt1	T	C	10: 108,478,109 (GRCm39)	D105G	probably benign	Het
Taar7e	T	A	10: 23,913,902 (GRCm39)	C131S	possibly damaging	Het
Tead4	A	G	6: 128,220,331 (GRCm39)		probably null	Het
Tescl	C	A	7: 24,033,076 (GRCm39)	R83L	probably damaging	Het
Ufd1	G	T	16: 18,633,616 (GRCm39)	V14F	probably benign	Het
Ugt1a10	T	A	1: 87,983,477 (GRCm39)	Y92N	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r67	G	A	7: 84,801,036 (GRCm39)	T300I	possibly damaging	Het
Wt1	T	G	2: 104,997,205 (GRCm39)	S381A	probably damaging	Het
Zbtb44	C	T	9: 30,965,504 (GRCm39)	Q305*	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
R7045:Cs	UTSW	10	128,188,586 (GRCm39)	missense	probably benign	0.00
R7896:Cs	UTSW	10	128,189,004 (GRCm39)	missense	probably damaging	1.00
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'- TTGTCCATATCCAGGACATTCCATC -3'
(R):5'- TTTGTCAGAGGCGAATGAGG -3'

Sequencing Primer
(F):5'- ATATCCAGGACATTCCATCTCTAC -3'
(R):5'- TTTCACTGCACAGAACAGAACG -3'

Posted On

2019-12-20