Mutagenetix > Incidental Mutation

Incidental Mutation 'R1844:Aco1'

207522

Institutional Source

Beutler Lab

Gene Symbol

Aco1

Ensembl Gene

ENSMUSG00000028405

Gene Name

aconitase 1

Synonyms

Irp1, Aco-1, Irebp

MMRRC Submission

039869-MU

Accession Numbers

Essential gene?

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

Stock #

R1844 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40143081-40198338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40197566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 857 (K857E)

Ref Sequence

ENSEMBL: ENSMUSP00000100038 (fasta)

Gene Model

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

AlphaFold

P28271

Predicted Effect

probably benign
Transcript: ENSMUST00000102973
AA Change: K857E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405
AA Change: K857E

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: ENSMUST00000135787

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,249,080 (GRCm39)	N397D	probably benign	Het
Adgrf3	T	G	5: 30,404,211 (GRCm39)	D347A	probably damaging	Het
Ang6	C	T	14: 44,239,330 (GRCm39)	E133K	possibly damaging	Het
Arhgap23	T	A	11: 97,354,234 (GRCm39)	W205R	probably damaging	Het
Arhgef40	C	A	14: 52,235,080 (GRCm39)	R1086S	probably damaging	Het
Atr	G	T	9: 95,787,870 (GRCm39)	A1488S	probably benign	Het
Cabin1	A	T	10: 75,579,184 (GRCm39)		probably null	Het
Cby2	C	T	14: 75,820,850 (GRCm39)	V292I	probably benign	Het
Cdh22	A	C	2: 164,985,614 (GRCm39)	F324C	probably damaging	Het
Cep350	T	C	1: 155,724,374 (GRCm39)	I3075V	probably damaging	Het
Chd9	A	T	8: 91,683,323 (GRCm39)	K588*	probably null	Het
Clns1a	A	T	7: 97,346,066 (GRCm39)	I44F	probably damaging	Het
Colgalt1	T	C	8: 72,063,995 (GRCm39)	I51T	possibly damaging	Het
Cpt2	C	T	4: 107,761,452 (GRCm39)	E217K	possibly damaging	Het
Ctss	A	G	3: 95,454,105 (GRCm39)		probably null	Het
Cyp1a1	A	G	9: 57,609,980 (GRCm39)	T465A	probably benign	Het
Dbn1	A	G	13: 55,629,160 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 139,018,143 (GRCm39)		probably null	Het
Dnajc1	A	C	2: 18,298,838 (GRCm39)	Y49*	probably null	Het
Dock10	T	A	1: 80,520,918 (GRCm39)	I1188L	probably damaging	Het
Dsg1c	T	G	18: 20,416,096 (GRCm39)		probably null	Het
Efcab6	G	A	15: 83,851,822 (GRCm39)	T352I	possibly damaging	Het
Eps8l3	T	C	3: 107,786,902 (GRCm39)	L26P	possibly damaging	Het
Fbxw26	A	G	9: 109,553,946 (GRCm39)	V231A	probably benign	Het
Fetub	G	A	16: 22,754,419 (GRCm39)	E209K	possibly damaging	Het
Galc	A	T	12: 98,212,556 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,222,892 (GRCm39)	N65K	probably benign	Het
Gstp3	A	G	19: 4,107,540 (GRCm39)	I208T	probably benign	Het
Gtpbp3	A	G	8: 71,945,272 (GRCm39)	Y448C	probably benign	Het
Hdac7	G	T	15: 97,705,857 (GRCm39)	Q385K	probably damaging	Het
Hemgn	C	T	4: 46,396,655 (GRCm39)	V194M	possibly damaging	Het
Idh2	G	C	7: 79,748,625 (GRCm39)	T113R	probably benign	Het
Jarid2	A	C	13: 45,056,219 (GRCm39)	K336T	possibly damaging	Het
Kcnj4	C	T	15: 79,369,216 (GRCm39)	V255M	probably damaging	Het
Ldhb	C	A	6: 142,439,934 (GRCm39)	W202L	probably damaging	Het
Lmbrd2	T	A	15: 9,177,838 (GRCm39)	Y512*	probably null	Het
Lrp1	A	G	10: 127,431,152 (GRCm39)		probably null	Het
Map3k12	G	A	15: 102,411,970 (GRCm39)	P365S	probably damaging	Het
Map3k5	G	A	10: 19,979,909 (GRCm39)	D806N	probably benign	Het
Matn3	A	G	12: 9,017,662 (GRCm39)	E438G	possibly damaging	Het
Mcmbp	G	A	7: 128,325,698 (GRCm39)	L97F	probably damaging	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Mphosph8	T	C	14: 56,934,616 (GRCm39)	V855A	probably damaging	Het
Mycbp2	T	A	14: 103,393,150 (GRCm39)	H3027L	possibly damaging	Het
Nbea	C	T	3: 55,989,857 (GRCm39)	R333H	probably damaging	Het
Notch1	G	T	2: 26,350,446 (GRCm39)	H2231Q	probably benign	Het
Npas2	A	T	1: 39,364,456 (GRCm39)	H266L	probably damaging	Het
Oas3	A	G	5: 120,898,045 (GRCm39)	S833P	probably damaging	Het
Or1j15	T	C	2: 36,458,789 (GRCm39)	Y60H	probably damaging	Het
Or5ak24	T	C	2: 85,260,265 (GRCm39)	T303A	probably benign	Het
Or5w17	A	C	2: 87,584,334 (GRCm39)	M1R	probably null	Het
Or6c65	G	A	10: 129,603,725 (GRCm39)	R120H	probably benign	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pitpnm1	T	C	19: 4,162,395 (GRCm39)	V1075A	probably damaging	Het
Pkp3	G	A	7: 140,668,415 (GRCm39)	V555M	probably damaging	Het
Plekhm2	T	C	4: 141,359,685 (GRCm39)	T381A	probably benign	Het
Plppr3	A	G	10: 79,702,244 (GRCm39)		probably null	Het
Ppp2r5e	A	T	12: 75,516,540 (GRCm39)	F216I	possibly damaging	Het
Ppp3ca	T	A	3: 136,627,672 (GRCm39)	V412D	probably benign	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Psph	A	C	5: 129,843,532 (GRCm39)	I174R	probably damaging	Het
Ptov1	A	G	7: 44,514,991 (GRCm39)	Y207H	possibly damaging	Het
Ptprs	A	G	17: 56,741,510 (GRCm39)	S585P	probably damaging	Het
Rnf146	A	T	10: 29,223,720 (GRCm39)	H55Q	probably damaging	Het
Rnf213	T	A	11: 119,332,009 (GRCm39)	M2407K	probably damaging	Het
Rnls	A	C	19: 33,179,931 (GRCm39)	L55R	possibly damaging	Het
Rptor	T	C	11: 119,647,146 (GRCm39)	C246R	probably damaging	Het
Rrp12	C	T	19: 41,866,222 (GRCm39)		probably null	Het
Samd3	A	G	10: 26,127,672 (GRCm39)	D223G	probably damaging	Het
Sdad1	G	A	5: 92,453,155 (GRCm39)	Q68*	probably null	Het
Selenov	G	A	7: 27,989,847 (GRCm39)	T219M	probably damaging	Het
Shd	A	G	17: 56,278,554 (GRCm39)	D39G	possibly damaging	Het
Slc26a10	A	T	10: 127,014,279 (GRCm39)	V245E	probably damaging	Het
Slit1	A	G	19: 41,614,012 (GRCm39)	L820P	probably damaging	Het
Snap23	T	C	2: 120,421,163 (GRCm39)	F96L	probably benign	Het
Speer1k	T	C	5: 10,998,994 (GRCm39)		probably benign	Het
Spef1l	A	T	7: 139,556,005 (GRCm39)	I212N	probably benign	Het
Stkld1	A	G	2: 26,840,115 (GRCm39)	H395R	probably damaging	Het
Syt13	G	A	2: 92,771,165 (GRCm39)	G84D	probably damaging	Het
Terb2	T	A	2: 122,016,990 (GRCm39)	L37Q	probably damaging	Het
Themis	A	G	10: 28,657,753 (GRCm39)	Y107C	probably damaging	Het
Top2a	T	A	11: 98,906,895 (GRCm39)	T249S	probably benign	Het
Tspo2	A	T	17: 48,756,148 (GRCm39)	F71Y	probably damaging	Het
Ttc21b	T	A	2: 66,053,921 (GRCm39)	K753*	probably null	Het
Ttk	A	G	9: 83,736,915 (GRCm39)	Y458C	possibly damaging	Het
Ttn	T	C	2: 76,586,017 (GRCm39)	R21905G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,254 (GRCm39)	F88I	probably benign	Het
Vmn1r119	A	G	7: 20,746,121 (GRCm39)	L87P	probably damaging	Het
Vmn1r36	A	G	6: 66,693,747 (GRCm39)	F6L	probably benign	Het
Vmn2r15	T	A	5: 109,434,860 (GRCm39)	K615*	probably null	Het
Wdr18	G	A	10: 79,802,561 (GRCm39)		probably null	Het
Wdr6	A	T	9: 108,453,176 (GRCm39)	W236R	probably damaging	Het
Zbtb48	T	C	4: 152,110,955 (GRCm39)	T187A	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGTGGGCACATAAATTCCC -3'
(R):5'- AAGTAGATGTGGCTGCTCTG -3'

Sequencing Primer
(F):5'- GGCACATAAATTCCCAGGGTTCTTG -3'
(R):5'- CTGCTCTGCCAGGCCTC -3'

Posted On

2014-06-23