Mutagenetix > Incidental Mutation

Incidental Mutation 'R2891:Ireb2'

260100

Institutional Source

Beutler Lab

Gene Symbol

Ireb2

Ensembl Gene

ENSMUSG00000032293

Gene Name

iron responsive element binding protein 2

Synonyms

Irp2, D9Ertd85e

MMRRC Submission

040479-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2891 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54771073-54819814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54807274 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 612 (H612L)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

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

AlphaFold

Q811J3

Predicted Effect

probably benign
Transcript: ENSMUST00000034843
AA Change: H612L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: H612L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213482

Predicted Effect

unknown
Transcript: ENSMUST00000214023
AA Change: H92L

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	C	5: 81,841,366 (GRCm39)	Y816H	probably damaging	Het
Clcn6	C	T	4: 148,097,073 (GRCm39)		probably null	Het
Farp1	C	T	14: 121,494,148 (GRCm39)	A543V	probably damaging	Het
Hhat	T	C	1: 192,277,394 (GRCm39)	Y355C	probably damaging	Het
Kcnj3	A	T	2: 55,337,027 (GRCm39)	I298F	probably damaging	Het
Kdr	A	G	5: 76,107,496 (GRCm39)	F1016L	probably damaging	Het
Klf7	T	C	1: 64,081,521 (GRCm39)	Y269C	probably damaging	Het
Klhl9	T	C	4: 88,639,207 (GRCm39)	I345V	probably benign	Het
Miga2	A	T	2: 30,268,306 (GRCm39)		probably null	Het
Nadk	A	G	4: 155,671,817 (GRCm39)	N232S	possibly damaging	Het
Ncoa6	T	A	2: 155,279,881 (GRCm39)	D45V	possibly damaging	Het
Pcnx2	A	G	8: 126,617,797 (GRCm39)	S153P	probably damaging	Het
Per2	C	A	1: 91,373,325 (GRCm39)	Q154H	probably damaging	Het
Pik3ap1	G	A	19: 41,364,500 (GRCm39)	A73V	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Rapsn	A	T	2: 90,867,169 (GRCm39)	D157V	probably damaging	Het
Shprh	T	G	10: 11,040,100 (GRCm39)	S4R	probably damaging	Het
Taar8a	G	A	10: 23,953,028 (GRCm39)	V211I	probably benign	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het

Other mutations in Ireb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Ireb2	APN	9	54,806,766 (GRCm39)	splice site	probably benign
IGL01576:Ireb2	APN	9	54,799,794 (GRCm39)	missense	probably damaging	1.00
IGL01844:Ireb2	APN	9	54,772,641 (GRCm39)	missense	probably benign	0.01
bonkers	UTSW	9	54,803,779 (GRCm39)	missense	probably benign	0.00
homicidal	UTSW	9	54,793,851 (GRCm39)	nonsense	probably null
remorseless	UTSW	9	54,789,617 (GRCm39)	missense	possibly damaging	0.83
tony_stark	UTSW	9	54,811,245 (GRCm39)	missense	probably damaging	1.00
R0143:Ireb2	UTSW	9	54,793,193 (GRCm39)	missense	probably benign	0.06
R0279:Ireb2	UTSW	9	54,793,877 (GRCm39)	missense	probably benign
R0400:Ireb2	UTSW	9	54,803,782 (GRCm39)	missense	probably benign
R0565:Ireb2	UTSW	9	54,807,267 (GRCm39)	missense	probably damaging	1.00
R0686:Ireb2	UTSW	9	54,811,460 (GRCm39)	missense	probably benign	0.44
R0706:Ireb2	UTSW	9	54,799,770 (GRCm39)	missense	probably benign
R0894:Ireb2	UTSW	9	54,803,861 (GRCm39)	missense	probably damaging	1.00
R1101:Ireb2	UTSW	9	54,816,986 (GRCm39)	missense	probably benign	0.35
R1680:Ireb2	UTSW	9	54,788,802 (GRCm39)	missense	probably damaging	1.00
R2074:Ireb2	UTSW	9	54,788,733 (GRCm39)	missense	probably benign
R2080:Ireb2	UTSW	9	54,803,836 (GRCm39)	missense	possibly damaging	0.85
R3153:Ireb2	UTSW	9	54,793,230 (GRCm39)	critical splice donor site	probably null
R3154:Ireb2	UTSW	9	54,793,230 (GRCm39)	critical splice donor site	probably null
R3844:Ireb2	UTSW	9	54,799,789 (GRCm39)	missense	probably damaging	0.99
R4128:Ireb2	UTSW	9	54,788,716 (GRCm39)	missense	probably benign	0.32
R4803:Ireb2	UTSW	9	54,814,098 (GRCm39)	missense	probably benign	0.01
R5097:Ireb2	UTSW	9	54,802,668 (GRCm39)	missense	probably benign	0.04
R5159:Ireb2	UTSW	9	54,799,831 (GRCm39)	missense	probably benign
R5227:Ireb2	UTSW	9	54,803,885 (GRCm39)	critical splice donor site	probably null
R5767:Ireb2	UTSW	9	54,807,800 (GRCm39)	missense	probably benign
R6005:Ireb2	UTSW	9	54,816,089 (GRCm39)	missense	probably damaging	1.00
R6127:Ireb2	UTSW	9	54,789,652 (GRCm39)	missense	probably benign
R6155:Ireb2	UTSW	9	54,793,811 (GRCm39)	missense	probably damaging	1.00
R6170:Ireb2	UTSW	9	54,794,656 (GRCm39)	missense	probably benign	0.00
R6341:Ireb2	UTSW	9	54,816,064 (GRCm39)	missense	probably damaging	0.99
R6707:Ireb2	UTSW	9	54,811,245 (GRCm39)	missense	probably damaging	1.00
R6973:Ireb2	UTSW	9	54,789,671 (GRCm39)	missense	probably benign	0.00
R7108:Ireb2	UTSW	9	54,813,925 (GRCm39)	missense	probably damaging	1.00
R7126:Ireb2	UTSW	9	54,793,851 (GRCm39)	nonsense	probably null
R7314:Ireb2	UTSW	9	54,799,794 (GRCm39)	missense	probably damaging	1.00
R7396:Ireb2	UTSW	9	54,789,617 (GRCm39)	missense	possibly damaging	0.83
R7472:Ireb2	UTSW	9	54,791,338 (GRCm39)	missense	probably benign	0.11
R7590:Ireb2	UTSW	9	54,803,779 (GRCm39)	missense	probably benign	0.00
R7842:Ireb2	UTSW	9	54,816,970 (GRCm39)	missense	probably benign	0.01
R7894:Ireb2	UTSW	9	54,789,620 (GRCm39)	missense	probably damaging	1.00
R8443:Ireb2	UTSW	9	54,811,265 (GRCm39)	missense	possibly damaging	0.94
R8902:Ireb2	UTSW	9	54,799,786 (GRCm39)	missense	probably benign	0.03
R9323:Ireb2	UTSW	9	54,811,523 (GRCm39)	critical splice donor site	probably null
R9505:Ireb2	UTSW	9	54,813,921 (GRCm39)	missense	probably damaging	1.00
R9643:Ireb2	UTSW	9	54,789,730 (GRCm39)	missense	possibly damaging	0.69
RF006:Ireb2	UTSW	9	54,788,768 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TCTCAGGAAACGTAACTTGTGG -3'
(R):5'- TGGAGACAGTGCACATAAGTATGC -3'

Sequencing Primer
(F):5'- TGTTGTCTGGATCTCACC -3'
(R):5'- TGGCATAAGCCACCACTA -3'

Posted On

2015-01-23