Mutagenetix > Incidental Mutation

Incidental Mutation 'R4708:Aco2'

355444

Institutional Source

Beutler Lab

Gene Symbol

Aco2

Ensembl Gene

ENSMUSG00000022477

Gene Name

aconitase 2, mitochondrial

Synonyms

Aco3, Irp1, D10Wsu183e, Aco-2

MMRRC Submission

042017-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R4708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81756664-81799338 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 81794117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023116] [ENSMUST00000229068]

AlphaFold

Q99KI0

Predicted Effect

probably null
Transcript: ENSMUST00000023116

SMART Domains

Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477

Domain	Start	End	E-Value	Type
Pfam:Aconitase	65	503	2.2e-160	PFAM
Pfam:Aconitase_C	582	712	5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155704

Predicted Effect

probably benign
Transcript: ENSMUST00000229068

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230669

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

97% (68/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,261,309 (GRCm39)	G2D	probably damaging	Het
4930505A04Rik	T	C	11: 30,404,717 (GRCm39)	Y62C	probably damaging	Het
Aadacl4	A	C	4: 144,349,899 (GRCm39)	K385N	probably benign	Het
Abcb4	A	T	5: 8,965,125 (GRCm39)	T332S	possibly damaging	Het
Aplf	G	T	6: 87,640,739 (GRCm39)	S69Y	probably damaging	Het
Arhgap27	A	G	11: 103,224,388 (GRCm39)		probably benign	Het
B4galnt1	T	A	10: 127,005,684 (GRCm39)	Y262N	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Ccdc62	T	G	5: 124,068,925 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,579,871 (GRCm39)	I649K	probably benign	Het
Cd209b	T	C	8: 3,974,215 (GRCm39)	E99G	probably damaging	Het
Cep290	A	G	10: 100,359,126 (GRCm39)	K952R	probably benign	Het
Ces2a	A	G	8: 105,463,938 (GRCm39)	H190R	probably benign	Het
Clec14a	A	G	12: 58,314,489 (GRCm39)	S378P	probably benign	Het
Col27a1	A	G	4: 63,202,150 (GRCm39)	Q947R	probably benign	Het
Dennd3	A	G	15: 73,395,344 (GRCm39)	T146A	probably damaging	Het
Dpy19l4	T	A	4: 11,277,970 (GRCm39)	M486L	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Eif4enif1	T	G	11: 3,170,323 (GRCm39)	H125Q	probably damaging	Het
Fcgbp	A	T	7: 27,794,386 (GRCm39)	M1197L	probably benign	Het
Fubp3	C	T	2: 31,498,122 (GRCm39)	T92I	probably benign	Het
Gm19426	T	C	2: 84,573,803 (GRCm39)		probably null	Het
Gtf2ird2	A	G	5: 134,245,140 (GRCm39)	H466R	probably damaging	Het
Hdac5	T	C	11: 102,093,019 (GRCm39)	S573G	probably damaging	Het
Iars2	A	T	1: 185,021,554 (GRCm39)	M916K	probably benign	Het
Insr	A	T	8: 3,261,346 (GRCm39)		probably benign	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ivl	T	A	3: 92,479,057 (GRCm39)	K336I	probably damaging	Het
Kcng2	A	G	18: 80,366,067 (GRCm39)	I95T	probably damaging	Het
Lap3	A	G	5: 45,668,480 (GRCm39)	R431G	probably damaging	Het
Lrrc66	T	C	5: 73,787,005 (GRCm39)	H115R	probably benign	Het
Morc3	T	C	16: 93,670,126 (GRCm39)	V767A	probably benign	Het
Mttp	A	G	3: 137,839,859 (GRCm39)		probably benign	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nat9	G	A	11: 115,074,269 (GRCm39)	T133M	probably damaging	Het
Nectin4	T	C	1: 171,212,714 (GRCm39)	I349T	probably benign	Het
Nlrp4a	A	G	7: 26,163,533 (GRCm39)	E900G	probably benign	Het
Nlrp9c	A	T	7: 26,084,265 (GRCm39)	M438K	probably benign	Het
Or2y14	T	A	11: 49,405,216 (GRCm39)	Y250*	probably null	Het
Or52p2	A	T	7: 102,237,043 (GRCm39)	D302E	probably benign	Het
Or5b21	A	T	19: 12,839,261 (GRCm39)	I41F	probably benign	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pde6c	G	A	19: 38,169,341 (GRCm39)	E804K	possibly damaging	Het
Plscr2	A	G	9: 92,173,067 (GRCm39)	Y203C	probably damaging	Het
Ptprs	A	G	17: 56,735,067 (GRCm39)	W216R	probably damaging	Het
Rhof	T	A	5: 123,258,454 (GRCm39)	T126S	probably benign	Het
Riox2	A	G	16: 59,296,045 (GRCm39)	I49V	probably benign	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rusf1	A	G	7: 127,873,852 (GRCm39)	V345A	probably benign	Het
Shld2	A	G	14: 33,989,790 (GRCm39)	V372A	probably benign	Het
Spata31e2	A	T	1: 26,723,521 (GRCm39)	V553D	possibly damaging	Het
Tmc6	A	T	11: 117,659,774 (GRCm39)	C750S	probably benign	Het
Tmem231	C	A	8: 112,660,418 (GRCm39)		probably benign	Het
Tmem94	T	A	11: 115,677,121 (GRCm39)	I131N	possibly damaging	Het
Tmx3	T	C	18: 90,539,163 (GRCm39)		probably null	Het
Tnfrsf21	C	T	17: 43,349,123 (GRCm39)	T245I	possibly damaging	Het
Ttbk2	C	A	2: 120,570,342 (GRCm39)	R1201S	probably damaging	Het
Vmn2r102	A	T	17: 19,914,576 (GRCm39)	M714L	probably benign	Het
Vmn2r109	A	G	17: 20,761,605 (GRCm39)	L584S	probably damaging	Het
Vmn2r53	T	A	7: 12,335,129 (GRCm39)	H177L	probably benign	Het
Vnn1	T	A	10: 23,773,250 (GRCm39)	D92E	probably benign	Het
Zan	T	C	5: 137,444,974 (GRCm39)	I1762V	unknown	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het
Zfhx4	A	G	3: 5,310,563 (GRCm39)		probably null	Het
Zfp560	T	C	9: 20,263,214 (GRCm39)	E54G	possibly damaging	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zmynd11	A	C	13: 9,745,789 (GRCm39)	V188G	probably damaging	Het

Other mutations in Aco2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Aco2	APN	15	81,797,915 (GRCm39)	missense	possibly damaging	0.88
IGL02450:Aco2	APN	15	81,798,963 (GRCm39)	makesense	probably null
IGL03408:Aco2	APN	15	81,783,424 (GRCm39)	critical splice donor site	probably null
ANU22:Aco2	UTSW	15	81,797,915 (GRCm39)	missense	possibly damaging	0.88
R0066:Aco2	UTSW	15	81,787,666 (GRCm39)	splice site	probably benign
R0066:Aco2	UTSW	15	81,787,666 (GRCm39)	splice site	probably benign
R0254:Aco2	UTSW	15	81,773,557 (GRCm39)	missense	probably damaging	0.99
R0408:Aco2	UTSW	15	81,797,319 (GRCm39)	splice site	probably null
R0535:Aco2	UTSW	15	81,797,418 (GRCm39)	missense	possibly damaging	0.76
R0839:Aco2	UTSW	15	81,791,736 (GRCm39)	splice site	probably null
R1199:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R1201:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R1320:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R1321:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R1322:Aco2	UTSW	15	81,779,394 (GRCm39)	missense	probably damaging	1.00
R2082:Aco2	UTSW	15	81,797,896 (GRCm39)	missense	possibly damaging	0.83
R2275:Aco2	UTSW	15	81,779,465 (GRCm39)	missense	probably benign	0.37
R2297:Aco2	UTSW	15	81,788,109 (GRCm39)	missense	probably damaging	1.00
R4414:Aco2	UTSW	15	81,773,584 (GRCm39)	splice site	probably null
R4497:Aco2	UTSW	15	81,779,486 (GRCm39)	missense	probably damaging	1.00
R4498:Aco2	UTSW	15	81,779,486 (GRCm39)	missense	probably damaging	1.00
R5556:Aco2	UTSW	15	81,773,520 (GRCm39)	missense	probably damaging	1.00
R5568:Aco2	UTSW	15	81,787,787 (GRCm39)	missense	probably damaging	0.99
R6103:Aco2	UTSW	15	81,797,452 (GRCm39)	missense	probably benign	0.00
R6912:Aco2	UTSW	15	81,779,597 (GRCm39)	missense	probably benign
R7319:Aco2	UTSW	15	81,787,820 (GRCm39)	missense	probably damaging	1.00
R7552:Aco2	UTSW	15	81,788,142 (GRCm39)	missense	probably damaging	1.00
R7585:Aco2	UTSW	15	81,756,685 (GRCm39)	unclassified	probably benign
R8792:Aco2	UTSW	15	81,793,697 (GRCm39)	missense	probably damaging	1.00
R8838:Aco2	UTSW	15	81,796,128 (GRCm39)	missense	probably damaging	0.97
R8957:Aco2	UTSW	15	81,773,701 (GRCm39)	intron	probably benign
R9014:Aco2	UTSW	15	81,798,857 (GRCm39)	missense	probably benign
R9037:Aco2	UTSW	15	81,756,620 (GRCm39)	unclassified	probably benign
R9038:Aco2	UTSW	15	81,756,620 (GRCm39)	unclassified	probably benign
R9039:Aco2	UTSW	15	81,756,620 (GRCm39)	unclassified	probably benign
R9562:Aco2	UTSW	15	81,773,635 (GRCm39)	missense	probably null	0.30
R9565:Aco2	UTSW	15	81,773,635 (GRCm39)	missense	probably null	0.30
Z1177:Aco2	UTSW	15	81,779,513 (GRCm39)	missense	probably damaging	0.99
Z1177:Aco2	UTSW	15	81,779,511 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGGGCTAAGGCAATGCAG -3'
(R):5'- TTGGCTTCTAGGATGCAGCC -3'

Sequencing Primer
(F):5'- GGCATAGCCTTTCATGCTCCAG -3'
(R):5'- GGCTTCTTCCTGTCAGACAG -3'

Posted On

2015-10-21