Incidental Mutation 'IGL01576:Ireb2'
| ID |
91265 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ireb2
|
| Ensembl Gene |
ENSMUSG00000032293 |
| Gene Name |
iron responsive element binding protein 2 |
| Synonyms |
Irp2, D9Ertd85e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
54771073-54819814 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 54799794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 412
(Y412H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034843]
|
| AlphaFold |
Q811J3 |
| 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
| 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 |
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,531,293 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,816,121 (GRCm39) |
E541G |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,962 (GRCm39) |
D571V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,984,365 (GRCm39) |
N4459S |
possibly damaging |
Het |
| Brsk2 |
T |
C |
7: 141,535,292 (GRCm39) |
I38T |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,258,602 (GRCm39) |
R563* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,276,180 (GRCm39) |
|
probably null |
Het |
| Chml |
T |
C |
1: 175,515,271 (GRCm39) |
T217A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,307,813 (GRCm39) |
N3042K |
probably damaging |
Het |
| Efcab2 |
T |
G |
1: 178,264,957 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,208,174 (GRCm39) |
E397G |
probably damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,094 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,227 (GRCm39) |
E128G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,096 (GRCm39) |
D663G |
probably damaging |
Het |
| Fndc10 |
T |
A |
4: 155,779,433 (GRCm39) |
V159D |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,633,164 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Gpr63 |
G |
T |
4: 25,008,445 (GRCm39) |
D390Y |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,876,409 (GRCm39) |
|
probably null |
Het |
| Igdcc3 |
A |
G |
9: 65,085,152 (GRCm39) |
T199A |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,739,047 (GRCm39) |
V285A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,062,101 (GRCm39) |
S443G |
possibly damaging |
Het |
| Med22 |
C |
T |
2: 26,799,004 (GRCm39) |
|
probably null |
Het |
| Or7c70 |
G |
T |
10: 78,683,207 (GRCm39) |
L181I |
possibly damaging |
Het |
| Pals2 |
G |
A |
6: 50,140,472 (GRCm39) |
R164Q |
probably benign |
Het |
| Pcnt |
T |
G |
10: 76,204,656 (GRCm39) |
D2583A |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,977,054 (GRCm39) |
R598Q |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,906,575 (GRCm39) |
V646A |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,319 (GRCm39) |
V412D |
probably damaging |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,123 (GRCm39) |
S129R |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,346,526 (GRCm39) |
I349V |
probably benign |
Het |
| Rorb |
C |
T |
19: 18,934,698 (GRCm39) |
G224D |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,757 (GRCm39) |
I508F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,628,079 (GRCm39) |
V619M |
probably damaging |
Het |
| Tgm7 |
A |
T |
2: 120,931,514 (GRCm39) |
D216E |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,329,200 (GRCm39) |
D493G |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,583,598 (GRCm39) |
C749S |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,519 (GRCm39) |
N284D |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation