Mutagenetix > Incidental Mutation

Incidental Mutation 'R1965:Aco1'

218263

Institutional Source

Beutler Lab

Gene Symbol

Aco1

Ensembl Gene

ENSMUSG00000028405

Gene Name

aconitase 1

Synonyms

Irp1, Aco-1, Irebp

MMRRC Submission

039978-MU

Accession Numbers

Essential gene?

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

Stock #

R1965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40143081-40198338 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 40175730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 157 (L157R)

Ref Sequence

ENSEMBL: ENSMUSP00000100038 (fasta)

Gene Model

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

AlphaFold

P28271

Predicted Effect

probably damaging
Transcript: ENSMUST00000102973
AA Change: L157R

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

SMART Domains

Protein: ENSMUSP00000100038
Gene: ENSMUSG00000028405
AA Change: L157R

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

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	T	4: 106,606,550 (GRCm39)	L513Q	probably damaging	Het
Amd1	A	G	10: 40,170,755 (GRCm39)	I52T	probably benign	Het
Ap2b1	T	C	11: 83,237,721 (GRCm39)	I557T	probably benign	Het
Arel1	T	A	12: 84,987,173 (GRCm39)		probably null	Het
Arg1	T	A	10: 24,792,762 (GRCm39)		probably null	Het
Atf1	A	T	15: 100,152,052 (GRCm39)	M135L	probably benign	Het
Atf2	T	C	2: 73,681,242 (GRCm39)	E77G	possibly damaging	Het
Axin1	G	T	17: 26,403,199 (GRCm39)	A394S	probably damaging	Het
Axin1	A	T	17: 26,409,202 (GRCm39)	Q734L	probably damaging	Het
Brd8	G	C	18: 34,735,819 (GRCm39)	A886G	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Celf3	T	C	3: 94,392,634 (GRCm39)	V35A	probably damaging	Het
Cfap299	T	A	5: 98,494,093 (GRCm39)	D32E	probably damaging	Het
Ckap2	T	C	8: 22,665,803 (GRCm39)	T415A	possibly damaging	Het
Crybg3	T	C	16: 59,323,600 (GRCm39)	Y1066C	probably damaging	Het
Csmd3	T	C	15: 47,713,144 (GRCm39)	H1506R	probably benign	Het
Dnah10	A	G	5: 124,852,267 (GRCm39)	D1808G	probably damaging	Het
Dsc3	C	T	18: 20,113,729 (GRCm39)	G398R	probably damaging	Het
Emc2	A	G	15: 43,390,863 (GRCm39)	Q293R	probably damaging	Het
Evc2	A	G	5: 37,520,876 (GRCm39)	N251D	possibly damaging	Het
Fam151a	A	T	4: 106,591,112 (GRCm39)		probably benign	Het
Fbxw16	T	A	9: 109,270,289 (GRCm39)	I151F	probably damaging	Het
Fmnl2	A	G	2: 53,004,880 (GRCm39)	D658G	probably damaging	Het
Fnip2	G	A	3: 79,400,779 (GRCm39)	T314I	probably benign	Het
Foxc2	T	A	8: 121,843,413 (GRCm39)	S20R	probably damaging	Het
Fpr-rs6	C	T	17: 20,402,918 (GRCm39)	G148R	probably damaging	Het
Fsip2	T	C	2: 82,823,124 (GRCm39)	S6286P	possibly damaging	Het
Fyb2	A	T	4: 104,770,846 (GRCm39)	I54F	probably benign	Het
Gbf1	T	C	19: 46,260,003 (GRCm39)	F999L	probably damaging	Het
Gldc	G	A	19: 30,114,513 (GRCm39)	R466*	probably null	Het
Gm12695	T	A	4: 96,651,082 (GRCm39)	S124C	probably benign	Het
Gm4846	A	T	1: 166,314,533 (GRCm39)	I370N	possibly damaging	Het
Gsdmc3	T	C	15: 63,730,296 (GRCm39)	T423A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kcnmb3	T	C	3: 32,526,492 (GRCm39)	Y233C	probably damaging	Het
Kidins220	A	G	12: 25,044,905 (GRCm39)	D191G	probably damaging	Het
Kmt2a	A	G	9: 44,732,757 (GRCm39)		probably benign	Het
Krt1	T	C	15: 101,757,427 (GRCm39)	D261G	probably benign	Het
Lrba	A	G	3: 86,513,175 (GRCm39)		probably null	Het
Myo1f	C	T	17: 33,817,146 (GRCm39)	R730*	probably null	Het
Ncoa7	C	A	10: 30,530,426 (GRCm39)	E30*	probably null	Het
Neurod4	T	A	10: 130,106,918 (GRCm39)	K119*	probably null	Het
Npy5r	T	C	8: 67,133,929 (GRCm39)	D288G	probably benign	Het
Nr3c2	A	T	8: 77,636,092 (GRCm39)	I398L	probably damaging	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or12j4	C	A	7: 140,046,574 (GRCm39)	F153L	probably benign	Het
Or4b1	T	C	2: 89,979,748 (GRCm39)	S201G	probably damaging	Het
Or4k35	T	C	2: 111,099,938 (GRCm39)	Y258C	probably damaging	Het
Or51v8	A	T	7: 103,320,103 (GRCm39)	I45N	probably damaging	Het
Or5g25	T	C	2: 85,478,090 (GRCm39)	T192A	possibly damaging	Het
Or5w8	A	G	2: 87,687,759 (GRCm39)	K80R	probably benign	Het
Or9m1b	A	G	2: 87,836,648 (GRCm39)	F149S	probably damaging	Het
P3r3urf	G	A	4: 116,031,376 (GRCm39)	C82Y	probably damaging	Het
Pcf11	A	T	7: 92,310,809 (GRCm39)	M393K	probably benign	Het
Pck2	T	C	14: 55,779,964 (GRCm39)	V71A	probably benign	Het
Pdzd8	G	T	19: 59,288,554 (GRCm39)	L949I	probably benign	Het
Pdzrn4	G	A	15: 92,644,190 (GRCm39)		probably null	Het
Phospho1	A	G	11: 95,721,705 (GRCm39)	N125S	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Ppid	A	T	3: 79,509,606 (GRCm39)	K308*	probably null	Het
Ppp1r1b	A	G	11: 98,246,189 (GRCm39)	E57G	probably damaging	Het
Prtg	T	G	9: 72,755,604 (GRCm39)	S269A	probably benign	Het
Rbbp5	T	A	1: 132,422,035 (GRCm39)	S312T	probably damaging	Het
Rbm11	T	A	16: 75,395,656 (GRCm39)		probably null	Het
Retreg1	A	G	15: 25,970,250 (GRCm39)	T139A	probably damaging	Het
Riok3	T	A	18: 12,270,019 (GRCm39)	H120Q	probably damaging	Het
Rln1	A	T	19: 29,311,995 (GRCm39)	M1K	probably null	Het
Rpp30	C	T	19: 36,066,549 (GRCm39)	S94L	probably damaging	Het
Sccpdh	C	T	1: 179,511,879 (GRCm39)	P117L	probably damaging	Het
Serac1	T	C	17: 6,099,274 (GRCm39)	K506E	possibly damaging	Het
Serping1	G	T	2: 84,596,072 (GRCm39)	T454K	probably damaging	Het
Slc1a2	T	A	2: 102,570,245 (GRCm39)	N174K	probably damaging	Het
Slc2a2	A	G	3: 28,773,634 (GRCm39)	Q313R	probably damaging	Het
Slc46a2	T	A	4: 59,914,249 (GRCm39)	S225C	probably damaging	Het
Smarcc2	G	A	10: 128,310,627 (GRCm39)	E419K	probably damaging	Het
Stkld1	T	A	2: 26,836,744 (GRCm39)		probably null	Het
Szt2	A	G	4: 118,241,162 (GRCm39)	M1704T	probably benign	Het
Tasor	T	G	14: 27,164,511 (GRCm39)	C272W	probably damaging	Het
Tfcp2l1	C	T	1: 118,580,653 (GRCm39)	Q116*	probably null	Het
Timm44	A	G	8: 4,310,603 (GRCm39)	M383T	possibly damaging	Het
Tnpo2	G	A	8: 85,771,946 (GRCm39)		probably null	Het
Tnrc6b	A	G	15: 80,764,640 (GRCm39)	K714R	probably damaging	Het
Wdfy3	A	G	5: 102,099,178 (GRCm39)	L290P	probably damaging	Het
Wdr59	A	G	8: 112,177,709 (GRCm39)	F898L	probably damaging	Het
Zfp120	A	T	2: 149,959,318 (GRCm39)	C335S	probably damaging	Het
Zfp518a	T	C	19: 40,901,954 (GRCm39)	S628P	probably benign	Het
Zfp879	A	T	11: 50,724,355 (GRCm39)	C234S	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
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
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'- ACTCGTCAGCAGCTTGTCTC -3'
(R):5'- TCTTGCCAAATACTCCAGGTTCAC -3'

Sequencing Primer
(F):5'- TCAGTTTCCCAGCAGGTGAC -3'
(R):5'- CACTTGGTGAATGATTCCCGAGC -3'

Posted On

2014-08-01