Mutagenetix > Incidental Mutation

Incidental Mutation 'R5568:Aco2'

437057

Institutional Source

Beutler Lab

Gene Symbol

Aco2

Ensembl Gene

ENSMUSG00000022477

Gene Name

aconitase 2, mitochondrial

Synonyms

Aco3, Irp1, D10Wsu183e, Aco-2

MMRRC Submission

043125-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5568 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81756664-81799338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81787787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 212 (D212E)

Ref Sequence

ENSEMBL: ENSMUSP00000023116 (fasta)

Gene Model

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

AlphaFold

Q99KI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000023116
AA Change: D212E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477
AA Change: D212E

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: ENSMUST00000155704

Predicted Effect

probably damaging
Transcript: ENSMUST00000229068
AA Change: D80E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231075

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,349,364 (GRCm39)	V207A	probably benign	Het
Abcc10	C	A	17: 46,614,834 (GRCm39)		probably null	Het
Abcc9	A	C	6: 142,634,742 (GRCm39)	V174G	possibly damaging	Het
Abl1	C	T	2: 31,669,086 (GRCm39)	A155V	probably damaging	Het
Adam26b	A	T	8: 43,973,529 (GRCm39)	M491K	probably benign	Het
Anapc5	G	A	5: 122,929,988 (GRCm39)		probably benign	Het
Atf7	A	G	15: 102,471,757 (GRCm39)	I46T	probably damaging	Het
Cacna1b	A	G	2: 24,497,612 (GRCm39)	S2100P	probably damaging	Het
Capn5	T	A	7: 97,775,137 (GRCm39)	D501V	probably damaging	Het
Cc2d2a	A	G	5: 43,866,433 (GRCm39)	M748V	probably damaging	Het
Cd300c2	T	C	11: 114,891,662 (GRCm39)	T71A	probably damaging	Het
Chmp2a	T	C	7: 12,767,758 (GRCm39)	M56V	probably benign	Het
Cilp	A	C	9: 65,187,515 (GRCm39)	R1203S	probably benign	Het
Clp1	T	A	2: 84,556,322 (GRCm39)	K53*	probably null	Het
Crhbp	T	A	13: 95,578,737 (GRCm39)	D128V	probably damaging	Het
Crispld1	T	A	1: 17,820,495 (GRCm39)	I292N	probably benign	Het
Cyp2c68	A	T	19: 39,677,526 (GRCm39)	I488N	probably benign	Het
Cyp3a57	A	T	5: 145,307,456 (GRCm39)	M149L	probably benign	Het
Ddx24	T	A	12: 103,390,547 (GRCm39)	Q59L	possibly damaging	Het
Ddx27	A	G	2: 166,871,439 (GRCm39)	H512R	possibly damaging	Het
Dlgap4	T	A	2: 156,604,821 (GRCm39)	*993K	probably null	Het
Dmxl2	A	T	9: 54,330,643 (GRCm39)		probably null	Het
Dus4l	A	T	12: 31,696,712 (GRCm39)	F88L	probably damaging	Het
Ep400	A	T	5: 110,904,071 (GRCm39)	V176E	probably damaging	Het
Fat3	T	A	9: 16,288,219 (GRCm39)	K435*	probably null	Het
Fsip2	T	C	2: 82,816,908 (GRCm39)	C4214R	probably benign	Het
Garin5a	T	G	7: 44,150,428 (GRCm39)	S207A	probably damaging	Het
Gfral	T	C	9: 76,072,087 (GRCm39)	*394W	probably null	Het
Glis1	T	C	4: 107,476,832 (GRCm39)	S518P	probably damaging	Het
H2-T10	A	G	17: 36,430,079 (GRCm39)		probably null	Het
Hsbp1l1	T	C	18: 80,278,679 (GRCm39)	T35A	possibly damaging	Het
Ighv5-12	A	G	12: 113,665,837 (GRCm39)	F87S	probably damaging	Het
Ints13	A	C	6: 146,477,855 (GRCm39)	D31E	probably damaging	Het
Kbtbd12	C	T	6: 88,595,609 (GRCm39)	D74N	probably damaging	Het
Klrb1c	A	G	6: 128,765,877 (GRCm39)		probably benign	Het
Kmt5b	A	T	19: 3,836,538 (GRCm39)	H25L	probably benign	Het
Krt28	A	T	11: 99,262,210 (GRCm39)	M260K	probably damaging	Het
Krt79	A	G	15: 101,838,220 (GRCm39)	S512P	probably damaging	Het
Lama1	A	T	17: 68,075,293 (GRCm39)		probably null	Het
Maneal	T	C	4: 124,750,937 (GRCm39)	E273G	possibly damaging	Het
Map4k3	T	A	17: 80,971,427 (GRCm39)	Y80F	possibly damaging	Het
Mbd6	A	G	10: 127,119,297 (GRCm39)	V946A	possibly damaging	Het
Mfsd14b	A	T	13: 65,219,936 (GRCm39)		probably null	Het
Mrpl46	C	G	7: 78,430,242 (GRCm39)	W176S	probably damaging	Het
Muc19	A	G	15: 91,768,468 (GRCm39)		noncoding transcript	Het
Mup3	T	G	4: 62,002,809 (GRCm39)	E184A	possibly damaging	Het
Myo9a	A	G	9: 59,781,911 (GRCm39)	H1699R	probably benign	Het
Ndrg2	T	A	14: 52,144,420 (GRCm39)	T269S	probably damaging	Het
Nfatc1	A	T	18: 80,693,037 (GRCm39)	V688D	probably benign	Het
Ninj2	T	C	6: 120,175,670 (GRCm39)	I101T	probably benign	Het
Nlrp10	T	A	7: 108,523,468 (GRCm39)	M671L	probably benign	Het
Npsr1	T	A	9: 24,224,510 (GRCm39)	L296I	probably damaging	Het
Or10d5	A	G	9: 39,861,983 (GRCm39)	L28P	probably benign	Het
Or52r1b	G	T	7: 102,691,517 (GRCm39)	R272L	possibly damaging	Het
Pacsin1	T	A	17: 27,927,022 (GRCm39)	D242E	probably damaging	Het
Pcdh1	T	C	18: 38,330,420 (GRCm39)	Y861C	probably damaging	Het
Pcdha12	T	C	18: 37,153,443 (GRCm39)	L54P	probably damaging	Het
Pcdhb18	T	A	18: 37,624,853 (GRCm39)	S728T	probably benign	Het
Phyhd1	T	A	2: 30,167,022 (GRCm39)	H108Q	probably damaging	Het
Plcb1	A	T	2: 135,212,513 (GRCm39)	I1035F	probably damaging	Het
Plcl1	T	C	1: 55,735,309 (GRCm39)	S217P	possibly damaging	Het
Plppr2	G	A	9: 21,852,425 (GRCm39)	R103H	probably damaging	Het
Plxnb2	G	A	15: 89,041,638 (GRCm39)	T1722I	probably damaging	Het
Pole3	T	C	4: 62,442,668 (GRCm39)	N53S	probably damaging	Het
Ptk6	A	T	2: 180,841,488 (GRCm39)	N140K	possibly damaging	Het
Rab12	C	T	17: 66,804,418 (GRCm39)	R180H	probably damaging	Het
Rab36	G	T	10: 74,888,311 (GRCm39)	V252L	probably benign	Het
Ranbp3	T	C	17: 57,008,543 (GRCm39)		probably null	Het
Rapgef2	A	G	3: 79,011,308 (GRCm39)	L259P	probably damaging	Het
Rigi	T	A	4: 40,222,140 (GRCm39)	M380L	probably benign	Het
Scaf4	GGCTGCTGCTGCTGCTGCTGCTGCTG	GGCTGCTGCTGCTGCTGCTGCTG	16: 90,026,745 (GRCm39)		probably benign	Het
Scd2	T	C	19: 44,288,142 (GRCm39)	F178S	probably damaging	Het
Shmt2	A	G	10: 127,356,250 (GRCm39)	S87P	probably damaging	Het
Slf1	T	A	13: 77,194,823 (GRCm39)	D834V	probably damaging	Het
Sorcs2	A	C	5: 36,203,874 (GRCm39)	Y540*	probably null	Het
Srpk2	T	A	5: 23,730,697 (GRCm39)	Q274L	possibly damaging	Het
Stradb	T	A	1: 59,031,901 (GRCm39)	M271K	possibly damaging	Het
Tfec	T	A	6: 16,867,592 (GRCm39)	Q16L	possibly damaging	Het
Tfg	T	C	16: 56,521,450 (GRCm39)	T63A	probably benign	Het
Ticrr	G	A	7: 79,339,715 (GRCm39)		probably null	Het
Ticrr	T	A	7: 79,345,044 (GRCm39)	C1636*	probably null	Het
Tln2	A	G	9: 67,219,147 (GRCm39)	I266T	probably damaging	Het
Tmcc1	G	C	6: 115,999,071 (GRCm39)	R323G	possibly damaging	Het
Tnnt3	A	G	7: 142,065,777 (GRCm39)	E138G	probably damaging	Het
Tpm2	C	A	4: 43,522,692 (GRCm39)	E75*	probably null	Het
Ttn	T	G	2: 76,580,922 (GRCm39)	T23324P	probably damaging	Het
Ubr4	T	G	4: 139,119,349 (GRCm39)	L176R	probably damaging	Het
Uhrf2	G	T	19: 30,016,488 (GRCm39)	D46Y	probably damaging	Het
Ulbp1	A	C	10: 7,423,281 (GRCm39)	S21A	unknown	Het
Usp17lb	C	T	7: 104,490,415 (GRCm39)	G170R	probably damaging	Het
Utp15	T	C	13: 98,394,433 (GRCm39)	N153S	probably benign	Het
Vcan	T	A	13: 89,836,790 (GRCm39)	E2918V	probably damaging	Het
Vmn1r174	T	A	7: 23,453,919 (GRCm39)	I195K	probably damaging	Het
Vmn1r76	C	T	7: 11,665,062 (GRCm39)	V16I	probably benign	Het
Xdh	T	C	17: 74,250,880 (GRCm39)	D24G	possibly damaging	Het
Xylb	T	A	9: 119,190,198 (GRCm39)	H68Q	probably benign	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
R4708:Aco2	UTSW	15	81,794,117 (GRCm39)	critical splice donor site	probably null
R5556:Aco2	UTSW	15	81,773,520 (GRCm39)	missense	probably damaging	1.00
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'- GGGTCCAACTTCAATTCTGTTC -3'
(R):5'- TGGGCTAGACAAGTACAGGC -3'

Sequencing Primer
(F):5'- GGTCCAACTTCAATTCTGTTCTGAAG -3'
(R):5'- CACGTAATGGAGCTTATATTCCCTTG -3'

Posted On

2016-10-24