Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01844:Ireb2'

178144

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ireb2

Ensembl Gene

ENSMUSG00000032293

Gene Name

iron responsive element binding protein 2

Synonyms

D9Ertd85e, Irp2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01844

Quality Score

Status

Chromosome

Chromosomal Location

54863789-54912530 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54865357 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 24 (K24E)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034843]

Predicted Effect

probably benign
Transcript: ENSMUST00000034843
AA Change: K24E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: K24E

Domain	Start	End	E-Value	Type
Pfam:Aconitase	59	155	6.5e-16	PFAM
Pfam:Aconitase	186	639	2e-129	PFAM
Pfam:Aconitase_C	767	896	1.5e-44	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous disruption of this gene results in microcytic anemia, altered body iron homeostasis, and variable behavioral and neurological phenotypes that may include pathological signs of neurodegeneration or brain iron accumulation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900055J20Rik	A	G	18: 40,257,320	I115M	probably damaging	Het
Abcg5	A	G	17: 84,682,025	I85T	probably damaging	Het
Amer2	A	G	14: 60,379,907	D391G	possibly damaging	Het
Atp13a3	A	T	16: 30,361,963	C83S	probably benign	Het
Bdh2	A	T	3: 135,288,319	Q54L	probably benign	Het
Cep128	A	G	12: 91,008,854	S1051P	probably benign	Het
Dopey1	A	G	9: 86,514,085	T865A	probably damaging	Het
Epha8	C	A	4: 136,931,049	*1005L	probably null	Het
Etl4	T	C	2: 20,806,682	V1509A	probably benign	Het
Gucy1b1	T	C	3: 82,046,526	E161G	possibly damaging	Het
Hepacam	T	A	9: 37,380,616	V80E	probably damaging	Het
Itch	T	A	2: 155,172,547	D101E	possibly damaging	Het
Itch	T	A	2: 155,172,486	F81Y	possibly damaging	Het
Klf7	C	A	1: 64,078,774	Q221H	probably benign	Het
Kptn	A	G	7: 16,123,972	T242A	probably benign	Het
Macf1	A	G	4: 123,440,692	F4420S	probably benign	Het
Mthfd2	A	G	6: 83,311,810		probably null	Het
Mtrf1l	A	C	10: 5,814,112	L284V	probably null	Het
Neb	C	T	2: 52,170,549	V2259I	probably benign	Het
Olfr1216	A	T	2: 89,013,470	V198E	possibly damaging	Het
Olfr1499	A	T	19: 13,814,816	M258K	possibly damaging	Het
Padi1	A	T	4: 140,829,435	C154S	probably damaging	Het
Paxip1	T	C	5: 27,751,038	T903A	probably benign	Het
Phactr2	T	A	10: 13,253,437	L292F	probably benign	Het
Pkhd1l1	G	A	15: 44,499,400		probably benign	Het
Pnpla7	T	C	2: 25,050,973		probably null	Het
Rif1	T	A	2: 52,112,543	I2003K	probably benign	Het
Rxfp3	A	T	15: 11,037,046	V80E	probably damaging	Het
Sart3	T	A	5: 113,745,648	K768*	probably null	Het
Slc35f5	C	T	1: 125,589,875	T470I	probably damaging	Het
Smg8	A	T	11: 87,080,276	Y890N	probably damaging	Het
Spata31	T	C	13: 64,921,154	V372A	possibly damaging	Het
Tbc1d30	A	T	10: 121,267,179	D649E	probably benign	Het
Tctn3	G	A	19: 40,612,137	T3I	probably damaging	Het
Tns3	G	A	11: 8,437,177	P1337S	possibly damaging	Het
Vmn2r15	T	A	5: 109,286,269	*856C	probably null	Het
Vmn2r61	A	T	7: 42,260,215	I55F	probably benign	Het
Zbtb41	C	T	1: 139,447,327	P842S	probably benign	Het
Zc3h13	A	G	14: 75,343,769		probably benign	Het

Other mutations in Ireb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Ireb2	APN	9	54899482	splice site	probably benign
IGL01576:Ireb2	APN	9	54892510	missense	probably damaging	1.00
bonkers	UTSW	9	54896495	missense	probably benign	0.00
homicidal	UTSW	9	54886567	nonsense	probably null
remorseless	UTSW	9	54882333	missense	possibly damaging	0.83
tony_stark	UTSW	9	54903961	missense	probably damaging	1.00
R0143:Ireb2	UTSW	9	54885909	missense	probably benign	0.06
R0279:Ireb2	UTSW	9	54886593	missense	probably benign
R0400:Ireb2	UTSW	9	54896498	missense	probably benign
R0565:Ireb2	UTSW	9	54899983	missense	probably damaging	1.00
R0686:Ireb2	UTSW	9	54904176	missense	probably benign	0.44
R0706:Ireb2	UTSW	9	54892486	missense	probably benign
R0894:Ireb2	UTSW	9	54896577	missense	probably damaging	1.00
R1101:Ireb2	UTSW	9	54909702	missense	probably benign	0.35
R1680:Ireb2	UTSW	9	54881518	missense	probably damaging	1.00
R2074:Ireb2	UTSW	9	54881449	missense	probably benign
R2080:Ireb2	UTSW	9	54896552	missense	possibly damaging	0.85
R2891:Ireb2	UTSW	9	54899990	missense	probably benign	0.01
R3153:Ireb2	UTSW	9	54885946	critical splice donor site	probably null
R3154:Ireb2	UTSW	9	54885946	critical splice donor site	probably null
R3844:Ireb2	UTSW	9	54892505	missense	probably damaging	0.99
R4128:Ireb2	UTSW	9	54881432	missense	probably benign	0.32
R4803:Ireb2	UTSW	9	54906814	missense	probably benign	0.01
R5097:Ireb2	UTSW	9	54895384	missense	probably benign	0.04
R5159:Ireb2	UTSW	9	54892547	missense	probably benign
R5227:Ireb2	UTSW	9	54896601	critical splice donor site	probably null
R5767:Ireb2	UTSW	9	54900516	missense	probably benign
R6005:Ireb2	UTSW	9	54908805	missense	probably damaging	1.00
R6127:Ireb2	UTSW	9	54882368	missense	probably benign
R6155:Ireb2	UTSW	9	54886527	missense	probably damaging	1.00
R6170:Ireb2	UTSW	9	54887372	missense	probably benign	0.00
R6341:Ireb2	UTSW	9	54908780	missense	probably damaging	0.99
R6707:Ireb2	UTSW	9	54903961	missense	probably damaging	1.00
R6973:Ireb2	UTSW	9	54882387	missense	probably benign	0.00
R7108:Ireb2	UTSW	9	54906641	missense	probably damaging	1.00
R7126:Ireb2	UTSW	9	54886567	nonsense	probably null
R7314:Ireb2	UTSW	9	54892510	missense	probably damaging	1.00
R7396:Ireb2	UTSW	9	54882333	missense	possibly damaging	0.83
R7472:Ireb2	UTSW	9	54884054	missense	probably benign	0.11
R7590:Ireb2	UTSW	9	54896495	missense	probably benign	0.00
R7842:Ireb2	UTSW	9	54909686	missense	probably benign	0.01
R7894:Ireb2	UTSW	9	54882336	missense	probably damaging	1.00
R8443:Ireb2	UTSW	9	54903981	missense	possibly damaging	0.94
RF006:Ireb2	UTSW	9	54881484	missense	possibly damaging	0.73

Posted On

2014-05-07