Mutagenetix > Incidental Mutation

Incidental Mutation 'R0143:Ireb2'

22448

Institutional Source

Beutler Lab

Gene Symbol

Ireb2

Ensembl Gene

ENSMUSG00000032293

Gene Name

iron responsive element binding protein 2

Synonyms

Irp2, D9Ertd85e

MMRRC Submission

038428-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0143 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

54771073-54819814 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54793193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 223 (F223L)

Ref Sequence

ENSEMBL: ENSMUSP00000034843 (fasta)

Gene Model

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

AlphaFold

Q811J3

Predicted Effect

probably benign
Transcript: ENSMUST00000034843
AA Change: F223L

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: F223L

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

Meta Mutation Damage Score

0.0899

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (76/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	A	T	18: 61,988,288 (GRCm39)	I145N	probably benign	Het
Ankrd1	G	A	19: 36,096,713 (GRCm39)	A38V	probably benign	Het
Ankrd34b	A	G	13: 92,576,268 (GRCm39)	E500G	probably damaging	Het
Arhgef12	T	C	9: 42,916,890 (GRCm39)	T419A	probably damaging	Het
B3galt2	A	T	1: 143,523,072 (GRCm39)	N403Y	possibly damaging	Het
Bbx	C	T	16: 50,100,755 (GRCm39)	E47K	probably benign	Het
C4b	G	A	17: 34,953,193 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,324,693 (GRCm39)		probably null	Het
Cdh3	T	C	8: 107,237,857 (GRCm39)	V17A	probably benign	Het
Cog7	A	T	7: 121,550,387 (GRCm39)	L379Q	probably damaging	Het
Cul9	T	C	17: 46,837,336 (GRCm39)	N1044S	possibly damaging	Het
Cyp4b1	C	T	4: 115,493,071 (GRCm39)	D258N	probably damaging	Het
Ddx39a	T	C	8: 84,447,179 (GRCm39)	V113A	probably benign	Het
Dennd4b	A	T	3: 90,179,671 (GRCm39)	H643L	probably damaging	Het
Dpy19l3	T	C	7: 35,413,640 (GRCm39)	T334A	probably benign	Het
Dsg3	T	C	18: 20,669,882 (GRCm39)	L632S	probably damaging	Het
Dtx4	G	A	19: 12,463,846 (GRCm39)	T312I	probably damaging	Het
Dusp18	C	T	11: 3,847,243 (GRCm39)	R78C	probably benign	Het
Fes	A	C	7: 80,033,643 (GRCm39)	F203V	probably benign	Het
Fhad1	C	A	4: 141,656,957 (GRCm39)		probably benign	Het
Gjb2	T	C	14: 57,337,526 (GRCm39)		silent	Het
Gm5828	T	C	1: 16,838,579 (GRCm39)		noncoding transcript	Het
Gsdma	A	C	11: 98,557,080 (GRCm39)	E65A	probably damaging	Het
Hck	T	A	2: 152,976,140 (GRCm39)		probably null	Het
Henmt1	A	T	3: 108,861,118 (GRCm39)	H47L	probably damaging	Het
Hivep2	T	C	10: 14,005,099 (GRCm39)	F566L	probably damaging	Het
Hnrnpl	T	C	7: 28,513,617 (GRCm39)		probably benign	Het
Igsf3	T	C	3: 101,342,917 (GRCm39)	I518T	probably damaging	Het
Isoc2a	T	C	7: 4,894,331 (GRCm39)		probably null	Het
Krt73	T	A	15: 101,709,208 (GRCm39)	R200W	probably damaging	Het
Lgals9	T	A	11: 78,854,361 (GRCm39)	I308F	probably damaging	Het
Lrp1	A	G	10: 127,429,811 (GRCm39)	F420L	probably damaging	Het
Mep1b	T	C	18: 21,228,164 (GRCm39)		probably benign	Het
Mex3a	G	T	3: 88,443,562 (GRCm39)	A213S	probably benign	Het
Mmp13	T	C	9: 7,276,558 (GRCm39)	F218L	probably damaging	Het
Ncf1	G	T	5: 134,255,991 (GRCm39)		probably benign	Het
Notch2	A	G	3: 98,053,433 (GRCm39)	D2032G	probably damaging	Het
Or10h28	T	C	17: 33,488,471 (GRCm39)	S258P	probably damaging	Het
Or5p1	A	G	7: 107,916,202 (GRCm39)	I34V	probably benign	Het
Or9i1b	A	C	19: 13,896,614 (GRCm39)	I77L	probably damaging	Het
Pex16	G	A	2: 92,210,802 (GRCm39)	G312D	probably damaging	Het
Pex5	A	T	6: 124,375,448 (GRCm39)	W525R	probably damaging	Het
Plcb4	T	A	2: 135,818,131 (GRCm39)	I799N	probably damaging	Het
Poldip3	G	A	15: 83,012,144 (GRCm39)	L372F	probably damaging	Het
Polg2	C	A	11: 106,668,352 (GRCm39)	V174L	probably benign	Het
Prrt4	C	G	6: 29,170,670 (GRCm39)	G594A	probably damaging	Het
Prss1	A	G	6: 41,440,522 (GRCm39)	D199G	probably damaging	Het
Rbms2	T	A	10: 127,973,823 (GRCm39)	Q207L	probably benign	Het
Retreg2	A	G	1: 75,123,074 (GRCm39)	D334G	possibly damaging	Het
Slc6a15	T	G	10: 103,253,929 (GRCm39)	C622G	probably benign	Het
Spdya	T	A	17: 71,865,635 (GRCm39)	D84E	probably damaging	Het
Stat3	A	T	11: 100,785,982 (GRCm39)	S432T	possibly damaging	Het
Tiam1	A	T	16: 89,695,088 (GRCm39)	V123E	probably benign	Het
Tnpo3	A	G	6: 29,565,651 (GRCm39)		probably benign	Het
Tnrc6c	A	C	11: 117,643,811 (GRCm39)	N1481H	probably damaging	Het
Top3b	T	C	16: 16,701,389 (GRCm39)	S234P	probably damaging	Het
Tor1aip2	A	T	1: 155,935,294 (GRCm39)	T10S	probably benign	Het
Tpsab1	T	A	17: 25,562,418 (GRCm39)	H303L	probably benign	Het
Traf3	T	A	12: 111,228,010 (GRCm39)	V407D	probably damaging	Het
Trim33	T	A	3: 103,259,417 (GRCm39)	D1035E	probably benign	Het
Ttc38	T	C	15: 85,737,920 (GRCm39)	V402A	possibly damaging	Het
Ube4b	C	T	4: 149,439,914 (GRCm39)	R646H	possibly damaging	Het
Usp8	C	A	2: 126,597,009 (GRCm39)		probably benign	Het
Zdbf2	A	T	1: 63,347,233 (GRCm39)	I1871F	probably benign	Het
Zfp345	T	A	2: 150,314,475 (GRCm39)	Q354L	probably benign	Het
Zfp462	C	A	4: 55,023,402 (GRCm39)		probably benign	Het
Zfp81	G	A	17: 33,554,095 (GRCm39)	H240Y	possibly damaging	Het
Zfp830	A	G	11: 82,655,994 (GRCm39)	D266G	possibly damaging	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
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
R2891:Ireb2	UTSW	9	54,807,274 (GRCm39)	missense	probably benign	0.01
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'- TGATAAAGCTCACTGTCCCGTTTCC -3'
(R):5'- CGTTAGCCAACTGCTCAATCTGACC -3'

Sequencing Primer
(F):5'- AGCACTCGTGTGGTGCTAAC -3'
(R):5'- gcagttaggaagatggagacag -3'

Posted On

2013-04-16