Mutagenetix > Incidental Mutation

Incidental Mutation 'R2072:Aco1'

227205

Institutional Source

Beutler Lab

Gene Symbol

Aco1

Ensembl Gene

ENSMUSG00000028405

Gene Name

aconitase 1

Synonyms

Irp1, Aco-1, Irebp

MMRRC Submission

040077-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

R2072 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40143081-40198338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40183605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 508 (G508S)

Ref Sequence

ENSEMBL: ENSMUSP00000100038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102973]

AlphaFold

P28271

Predicted Effect

probably damaging
Transcript: ENSMUST00000102973
AA Change: G508S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405
AA Change: G508S

Domain	Start	End	E-Value	Type
Pfam:Aconitase	54	564	4.5e-180	PFAM
Pfam:Aconitase_C	692	821	1e-48	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the aconitase/IPM isomerase protein family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Depending on iron levels in the cytosol, the encoded protein can function as either an aconitase enzyme or as an mRNA binding protein. When cellular iron levels are high, the encoded protein functions as an aconitase, an essential enzyme in the TCA cycle that catalyzes the conversion of citrate to isocitrate. When cellular iron levels are low, the encoded protein regulates iron uptake and utilization by binding to iron-responsive elements in the untranslated regions of mRNAs for genes involved in iron metabolism. Disruption of this gene is associated with pulmonary hypertension and polycythemia. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display no obvious phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	C	5: 64,056,080 (GRCm39)	R272P	possibly damaging	Het
Ablim3	A	T	18: 61,990,159 (GRCm39)	D83E	possibly damaging	Het
Adamts13	C	A	2: 26,895,437 (GRCm39)	T1176N	probably benign	Het
Adgre5	T	C	8: 84,454,433 (GRCm39)	T357A	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ankrd33	T	C	15: 101,017,517 (GRCm39)	V310A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bnipl	C	T	3: 95,151,522 (GRCm39)	G232E	probably damaging	Het
Btbd17	A	T	11: 114,682,778 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,007,242 (GRCm39)	V173I	probably benign	Het
Ccdc122	T	C	14: 77,306,391 (GRCm39)		probably null	Het
Ces1a	T	A	8: 93,774,703 (GRCm39)	N12Y	probably benign	Het
Chrdl1	T	C	X: 142,086,414 (GRCm39)	I231V	probably benign	Het
Ciita	C	T	16: 10,336,217 (GRCm39)	T958I	probably benign	Het
Cnot1	G	T	8: 96,466,461 (GRCm39)	T1592K	possibly damaging	Het
Dcaf15	T	C	8: 84,828,370 (GRCm39)	D240G	probably damaging	Het
Dlgap1	C	T	17: 70,969,765 (GRCm39)	R524C	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dsg1c	A	G	18: 20,408,309 (GRCm39)	M453V	probably benign	Het
Ednrb	G	T	14: 104,054,535 (GRCm39)	N432K	probably benign	Het
Fcgbp	G	A	7: 27,819,814 (GRCm39)	G2514S	probably damaging	Het
Fez1	A	G	9: 36,779,241 (GRCm39)	K306R	probably benign	Het
Fmo4	A	G	1: 162,637,456 (GRCm39)	V12A	probably benign	Het
Fpgt	T	C	3: 154,793,511 (GRCm39)	Y172C	probably damaging	Het
Fsip2	T	A	2: 82,839,159 (GRCm39)	F6976I	possibly damaging	Het
Galnt12	C	T	4: 47,108,477 (GRCm39)	R205*	probably null	Het
Grik5	A	T	7: 24,714,738 (GRCm39)	M752K	possibly damaging	Het
Herc2	A	G	7: 55,876,712 (GRCm39)	N4516S	probably damaging	Het
Ifrd2	A	T	9: 107,469,744 (GRCm39)	D439V	probably damaging	Het
Igsf3	A	G	3: 101,346,831 (GRCm39)	T609A	probably benign	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
Lgi2	A	G	5: 52,695,847 (GRCm39)	S371P	probably damaging	Het
Marchf3	A	T	18: 56,944,925 (GRCm39)	V56E	possibly damaging	Het
Mib2	T	C	4: 155,744,158 (GRCm39)	D168G	probably damaging	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nlrp2	A	G	7: 5,328,005 (GRCm39)	S683P	probably damaging	Het
Onecut3	T	G	10: 80,330,848 (GRCm39)	L3V	unknown	Het
Or12j2	T	C	7: 139,916,566 (GRCm39)	S264P	possibly damaging	Het
Or4c35	C	A	2: 89,808,557 (GRCm39)	T145K	probably benign	Het
Or5b102	A	T	19: 13,041,044 (GRCm39)	M90L	probably benign	Het
Otogl	C	T	10: 107,616,904 (GRCm39)	C1791Y	probably damaging	Het
Paip1	T	C	13: 119,566,798 (GRCm39)	V128A	possibly damaging	Het
Pcnx2	A	T	8: 126,488,481 (GRCm39)	C1688S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phlpp2	T	C	8: 110,655,124 (GRCm39)	S605P	possibly damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plxnb2	G	T	15: 89,042,654 (GRCm39)	R1545S	probably damaging	Het
Ppp4c	T	C	7: 126,386,520 (GRCm39)		probably null	Het
Prune1	C	T	3: 95,162,719 (GRCm39)	R318Q	probably benign	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Psg27	A	G	7: 18,298,934 (GRCm39)	L129P	probably benign	Het
Psmc6	A	G	14: 45,567,323 (GRCm39)	K7E	possibly damaging	Het
Reln	A	T	5: 22,124,175 (GRCm39)	V2777E	probably damaging	Het
Rigi	A	T	4: 40,224,069 (GRCm39)		probably null	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Slc5a5	C	T	8: 71,345,083 (GRCm39)	G75R	possibly damaging	Het
Smarcd2	A	T	11: 106,156,133 (GRCm39)	L42*	probably null	Het
Smg1	T	C	7: 117,762,389 (GRCm39)		probably benign	Het
Smurf2	T	A	11: 106,732,595 (GRCm39)	Q335L	probably benign	Het
Sspo	A	T	6: 48,450,451 (GRCm39)	H2580L	probably benign	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syt1	A	G	10: 108,419,833 (GRCm39)	I276T	probably damaging	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar9	A	T	10: 23,984,877 (GRCm39)	C186S	probably damaging	Het
Tnrc6b	C	T	15: 80,767,166 (GRCm39)	P977L	possibly damaging	Het
Trp53bp2	A	G	1: 182,286,432 (GRCm39)	T1091A	probably benign	Het
Ttn	G	T	2: 76,768,120 (GRCm39)	T2947N	probably damaging	Het
Ube2q1	T	C	3: 89,686,878 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,840,638 (GRCm39)	E671G	probably benign	Het
Upf3a	A	G	8: 13,835,850 (GRCm39)	K56R	possibly damaging	Het
Vmn2r15	A	T	5: 109,434,619 (GRCm39)	M695K	possibly damaging	Het
Vmn2r3	A	T	3: 64,182,493 (GRCm39)	M402K	possibly damaging	Het
Zfp354b	T	A	11: 50,813,279 (GRCm39)	R549*	probably null	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp747	T	A	7: 126,973,142 (GRCm39)	T343S	possibly damaging	Het
Zfp853	T	A	5: 143,275,137 (GRCm39)	Q161L	unknown	Het

Other mutations in Aco1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Aco1	APN	4	40,180,290 (GRCm39)	critical splice donor site	probably null
IGL01081:Aco1	APN	4	40,197,576 (GRCm39)	missense	probably benign
IGL01364:Aco1	APN	4	40,181,380 (GRCm39)	splice site	probably null
IGL01733:Aco1	APN	4	40,175,738 (GRCm39)	splice site	probably benign
IGL02232:Aco1	APN	4	40,175,996 (GRCm39)	missense	probably damaging	1.00
IGL02709:Aco1	APN	4	40,180,199 (GRCm39)	missense	possibly damaging	0.86
IGL03164:Aco1	APN	4	40,167,116 (GRCm39)	missense	probably benign	0.30
IGL03208:Aco1	APN	4	40,186,424 (GRCm39)	missense	possibly damaging	0.55
IGL03324:Aco1	APN	4	40,186,363 (GRCm39)	missense	probably benign
IGL03353:Aco1	APN	4	40,175,893 (GRCm39)	missense	probably damaging	0.99
krebs	UTSW	4	40,180,210 (GRCm39)	nonsense	probably null
R0002:Aco1	UTSW	4	40,176,649 (GRCm39)	splice site	probably benign
R0486:Aco1	UTSW	4	40,177,783 (GRCm39)	missense	probably damaging	1.00
R0636:Aco1	UTSW	4	40,175,697 (GRCm39)	missense	probably damaging	1.00
R1344:Aco1	UTSW	4	40,179,008 (GRCm39)	missense	probably damaging	1.00
R1844:Aco1	UTSW	4	40,197,566 (GRCm39)	missense	probably benign	0.00
R1889:Aco1	UTSW	4	40,164,607 (GRCm39)	critical splice acceptor site	probably null
R1932:Aco1	UTSW	4	40,176,499 (GRCm39)	missense	probably damaging	1.00
R1959:Aco1	UTSW	4	40,167,193 (GRCm39)	critical splice donor site	probably null
R1965:Aco1	UTSW	4	40,175,730 (GRCm39)	missense	probably damaging	1.00
R1983:Aco1	UTSW	4	40,175,845 (GRCm39)	missense	probably benign	0.37
R2073:Aco1	UTSW	4	40,183,605 (GRCm39)	missense	probably damaging	1.00
R2074:Aco1	UTSW	4	40,183,605 (GRCm39)	missense	probably damaging	1.00
R3155:Aco1	UTSW	4	40,182,915 (GRCm39)	missense	probably damaging	1.00
R4595:Aco1	UTSW	4	40,167,139 (GRCm39)	missense	probably benign	0.43
R4999:Aco1	UTSW	4	40,176,507 (GRCm39)	missense	probably damaging	1.00
R5131:Aco1	UTSW	4	40,163,797 (GRCm39)	missense	probably benign
R5354:Aco1	UTSW	4	40,180,290 (GRCm39)	critical splice donor site	probably null
R5380:Aco1	UTSW	4	40,177,848 (GRCm39)	missense	probably damaging	1.00
R6352:Aco1	UTSW	4	40,186,367 (GRCm39)	missense	probably benign	0.10
R6353:Aco1	UTSW	4	40,186,367 (GRCm39)	missense	probably benign	0.10
R6380:Aco1	UTSW	4	40,185,028 (GRCm39)	missense	probably benign	0.02
R6540:Aco1	UTSW	4	40,186,367 (GRCm39)	missense	probably benign	0.10
R6751:Aco1	UTSW	4	40,188,330 (GRCm39)	splice site	probably null
R6760:Aco1	UTSW	4	40,180,210 (GRCm39)	nonsense	probably null
R6833:Aco1	UTSW	4	40,164,747 (GRCm39)	missense	probably benign	0.00
R6834:Aco1	UTSW	4	40,164,747 (GRCm39)	missense	probably benign	0.00
R7019:Aco1	UTSW	4	40,186,376 (GRCm39)	missense	probably damaging	1.00
R7852:Aco1	UTSW	4	40,180,263 (GRCm39)	missense	probably benign	0.00
R7912:Aco1	UTSW	4	40,184,983 (GRCm39)	missense	probably damaging	1.00
R8188:Aco1	UTSW	4	40,180,284 (GRCm39)	missense	probably benign	0.00
R8329:Aco1	UTSW	4	40,186,376 (GRCm39)	missense	possibly damaging	0.83
R8346:Aco1	UTSW	4	40,177,876 (GRCm39)	missense	probably damaging	1.00
R8796:Aco1	UTSW	4	40,179,037 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTCAACTCCTGTGTTAACAAGC -3'
(R):5'- CAGCACTCTCTAAAACTCTGCTATAG -3'

Sequencing Primer
(F):5'- GCTTTAAAATGTCAGTAGCATCCTG -3'
(R):5'- TTAGCTGCCCGACGTTACACAG -3'

Posted On

2014-09-17