Incidental Mutation 'IGL01576:Ireb2'
ID91265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ireb2
Ensembl Gene ENSMUSG00000032293
Gene Nameiron responsive element binding protein 2
SynonymsD9Ertd85e, Irp2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01576
Quality Score
Status
Chromosome9
Chromosomal Location54863789-54912530 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54892510 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 412 (Y412H)
Ref Sequence ENSEMBL: ENSMUSP00000034843 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034843]
Predicted Effect probably damaging
Transcript: ENSMUST00000034843
AA Change: Y412H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: Y412H

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000214023
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,554,330 probably benign Het
Ank3 A G 10: 69,980,291 E541G probably damaging Het
Arhgef5 A T 6: 43,274,028 D571V probably benign Het
Birc6 A G 17: 74,677,370 N4459S possibly damaging Het
Brsk2 T C 7: 141,981,555 I38T possibly damaging Het
Cacna2d4 A T 6: 119,281,641 R563* probably null Het
Car7 T A 8: 104,549,548 probably null Het
Chml T C 1: 175,687,705 T217A probably benign Het
Dnah7b T G 1: 46,268,653 N3042K probably damaging Het
Efcab2 T G 1: 178,437,392 probably benign Het
Espn T C 4: 152,123,717 E397G probably damaging Het
Fam20c A G 5: 138,807,339 T443A probably damaging Het
Fam221b T C 4: 43,666,227 E128G probably benign Het
Fat4 A G 3: 38,888,947 D663G probably damaging Het
Fndc10 T A 4: 155,694,976 V159D probably benign Het
Gm14496 A G 2: 181,991,371 Y49C possibly damaging Het
Gpr63 G T 4: 25,008,445 D390Y possibly damaging Het
Herc2 G A 7: 56,226,661 probably null Het
Igdcc3 A G 9: 65,177,870 T199A probably damaging Het
Lpin3 T C 2: 160,897,127 V285A probably benign Het
Mdga1 T C 17: 29,843,127 S443G possibly damaging Het
Med22 C T 2: 26,908,992 probably null Het
Mpp6 G A 6: 50,163,492 R164Q probably benign Het
Olfr1356 G T 10: 78,847,373 L181I possibly damaging Het
Pcnt T G 10: 76,368,822 D2583A probably damaging Het
Pkn3 G A 2: 30,087,042 R598Q probably damaging Het
Pnpla7 T C 2: 25,016,563 V646A probably damaging Het
Podxl A T 6: 31,524,384 V412D probably damaging Het
Rad51ap1 A T 6: 126,928,160 S129R probably damaging Het
Relb T C 7: 19,612,601 I349V probably benign Het
Rorb C T 19: 18,957,334 G224D probably damaging Het
Slc40a1 T A 1: 45,909,597 I508F probably damaging Het
Tanc1 G A 2: 59,797,735 V619M probably damaging Het
Tgm7 A T 2: 121,101,033 D216E probably damaging Het
Tmem132e A G 11: 82,438,374 D493G probably damaging Het
Zfp110 T A 7: 12,849,671 C749S probably damaging Het
Zscan4d T C 7: 11,162,592 N284D possibly damaging Het
Other mutations in Ireb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Ireb2 APN 9 54899482 splice site probably benign
IGL01844:Ireb2 APN 9 54865357 missense probably benign 0.01
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 On2013-12-09