Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02232:Aco1'

285736

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aco1

Ensembl Gene

ENSMUSG00000028405

Gene Name

aconitase 1

Synonyms

Irp1, Aco-1, Irebp

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.421) question?

Stock #

IGL02232

Quality Score

Status

Chromosome

Chromosomal Location

40143081-40198338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40175996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 210 (M210T)

Ref Sequence

ENSEMBL: ENSMUSP00000100038 (fasta)

Gene Model

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

AlphaFold

P28271

Predicted Effect

probably damaging
Transcript: ENSMUST00000102973
AA Change: M210T

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

SMART Domains

Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405
AA Change: M210T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142360

Coding Region Coverage

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810030O07Rik	A	G	X: 12,530,764 (GRCm39)	V199A	possibly damaging	Het
Actr10	G	A	12: 70,990,289 (GRCm39)	E114K	probably benign	Het
Adam6b	T	C	12: 113,454,764 (GRCm39)	M527T	probably benign	Het
Ahi1	C	T	10: 20,857,274 (GRCm39)	T623M	probably damaging	Het
Aldh8a1	T	C	10: 21,271,545 (GRCm39)	W424R	probably damaging	Het
Apeh	A	T	9: 107,969,071 (GRCm39)	S299T	probably benign	Het
Bbs5	A	C	2: 69,485,895 (GRCm39)	I147L	probably benign	Het
Bmp2k	T	G	5: 97,179,109 (GRCm39)		probably benign	Het
C2cd6	A	G	1: 59,101,651 (GRCm39)	F336S	probably damaging	Het
Cd274	T	A	19: 29,359,938 (GRCm39)	L248M	probably damaging	Het
Chsy3	T	A	18: 59,542,383 (GRCm39)	M507K	possibly damaging	Het
Clip2	T	C	5: 134,531,984 (GRCm39)	N572S	probably damaging	Het
Commd9	A	G	2: 101,731,324 (GRCm39)	T170A	probably benign	Het
Cpt1c	G	A	7: 44,609,580 (GRCm39)	S674L	probably damaging	Het
Dhx33	C	A	11: 70,878,030 (GRCm39)	R671L	probably damaging	Het
Dnah5	G	A	15: 28,299,386 (GRCm39)	E1583K	probably damaging	Het
Eed	G	T	7: 89,621,493 (GRCm39)	N51K	probably damaging	Het
Efcab14	A	G	4: 115,617,261 (GRCm39)		probably benign	Het
Ephb2	A	C	4: 136,384,762 (GRCm39)	M884R	probably damaging	Het
Foxn2	G	T	17: 88,770,479 (GRCm39)	A109S	probably benign	Het
Fut1	A	T	7: 45,268,871 (GRCm39)	D220V	probably damaging	Het
Gm6468	C	T	5: 95,429,066 (GRCm39)		noncoding transcript	Het
Gm7964	A	T	7: 83,405,515 (GRCm39)		noncoding transcript	Het
Gm9772	C	T	17: 22,226,031 (GRCm39)		probably benign	Het
Golph3	G	T	15: 12,349,578 (GRCm39)	M199I	probably benign	Het
Itpr1	A	G	6: 108,394,884 (GRCm39)	N1666D	probably damaging	Het
Itprid1	A	G	6: 55,944,922 (GRCm39)	T548A	unknown	Het
Kif12	C	T	4: 63,084,732 (GRCm39)	E529K	probably benign	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Lrrc52	T	A	1: 167,293,949 (GRCm39)	N112I	probably damaging	Het
Msi1	T	A	5: 115,579,506 (GRCm39)		probably null	Het
Nasp	T	G	4: 116,461,997 (GRCm39)	E170A	probably damaging	Het
Necab2	T	A	8: 120,189,391 (GRCm39)	V187E	probably damaging	Het
Obscn	T	C	11: 58,929,804 (GRCm39)	E5790G	probably damaging	Het
Or7e176	A	T	9: 20,171,511 (GRCm39)	D125V	probably damaging	Het
Or9a7	A	G	6: 40,520,980 (GRCm39)	L311P	probably damaging	Het
Pard3b	C	T	1: 62,205,541 (GRCm39)	T445I	probably damaging	Het
Pcdh10	A	G	3: 45,335,377 (GRCm39)	I564V	probably benign	Het
Pcdhb22	T	A	18: 37,653,602 (GRCm39)	L690Q	probably damaging	Het
Pemt	T	A	11: 59,867,680 (GRCm39)	T115S	probably damaging	Het
Plcl2	A	G	17: 50,913,669 (GRCm39)	N226S	possibly damaging	Het
Ppp6r1	A	G	7: 4,636,341 (GRCm39)	S750P	probably damaging	Het
Prtg	T	C	9: 72,758,771 (GRCm39)	V375A	probably damaging	Het
Psd3	A	C	8: 68,356,797 (GRCm39)	M673R	probably damaging	Het
Ptprt	T	C	2: 161,372,437 (GRCm39)	I1392V	probably damaging	Het
Rlf	G	A	4: 121,039,811 (GRCm39)	T200I	probably benign	Het
Robo1	G	A	16: 72,768,872 (GRCm39)	G479D	possibly damaging	Het
Rpe65	A	G	3: 159,309,988 (GRCm39)	D87G	possibly damaging	Het
Sema3g	T	C	14: 30,943,181 (GRCm39)	V148A	probably damaging	Het
Sgms2	G	A	3: 131,116,833 (GRCm39)	P341S	probably benign	Het
Skint7	A	T	4: 111,839,225 (GRCm39)	Q173L	possibly damaging	Het
Slc2a9	G	A	5: 38,594,013 (GRCm39)	A150V	probably benign	Het
Slc35c2	A	G	2: 165,124,801 (GRCm39)	L58P	probably damaging	Het
Slc7a6	G	A	8: 106,923,206 (GRCm39)	C495Y	possibly damaging	Het
Smurf1	G	A	5: 144,823,248 (GRCm39)	P458L	probably damaging	Het
Spag1	C	T	15: 36,221,710 (GRCm39)	T601I	probably benign	Het
Spink8	A	T	9: 109,649,665 (GRCm39)	Q49L	possibly damaging	Het
Spout1	A	T	2: 30,065,266 (GRCm39)	Y284N	probably damaging	Het
Srrm1	A	T	4: 135,080,427 (GRCm39)	M1K	probably null	Het
Stxbp5l	A	G	16: 37,150,257 (GRCm39)	L116P	probably damaging	Het
Tlr9	T	C	9: 106,102,136 (GRCm39)	F476L	probably damaging	Het
Tmem41b	A	G	7: 109,577,960 (GRCm39)	V108A	probably damaging	Het
Tra2b	A	G	16: 22,067,790 (GRCm39)		probably benign	Het
Trio	G	T	15: 27,902,647 (GRCm39)	H271Q	probably benign	Het
Ttn	A	G	2: 76,723,263 (GRCm39)		probably benign	Het
Usp51	A	T	X: 151,791,669 (GRCm39)	H421L	probably damaging	Het
Vmn2r29	A	T	7: 7,244,810 (GRCm39)	W355R	probably damaging	Het
Vpreb1a	T	C	16: 16,686,603 (GRCm39)	N96D	possibly damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het
Zp3r	C	A	1: 130,524,404 (GRCm39)	C213F	probably damaging	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
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
R2072:Aco1	UTSW	4	40,183,605 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16