Incidental Mutation 'R5159:Ireb2'
ID |
396881 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ireb2
|
Ensembl Gene |
ENSMUSG00000032293 |
Gene Name |
iron responsive element binding protein 2 |
Synonyms |
Irp2, D9Ertd85e |
MMRRC Submission |
042741-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5159 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
54771073-54819814 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 54799831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 424
(N424S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034843]
|
AlphaFold |
Q811J3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034843
AA Change: N424S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034843 Gene: ENSMUSG00000032293 AA Change: N424S
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
|
Meta Mutation Damage Score |
0.0588 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
100% (63/63) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,839,352 (GRCm39) |
T412A |
probably benign |
Het |
Aldh5a1 |
T |
A |
13: 25,097,776 (GRCm39) |
M420L |
possibly damaging |
Het |
Armc2 |
A |
G |
10: 41,884,711 (GRCm39) |
S77P |
probably damaging |
Het |
Avil |
A |
G |
10: 126,856,317 (GRCm39) |
|
probably null |
Het |
Bltp3a |
A |
G |
17: 28,100,530 (GRCm39) |
H323R |
probably damaging |
Het |
Bmp5 |
T |
A |
9: 75,801,035 (GRCm39) |
F388L |
probably damaging |
Het |
Brca2 |
T |
G |
5: 150,465,573 (GRCm39) |
V1779G |
possibly damaging |
Het |
Cblb |
T |
A |
16: 51,932,483 (GRCm39) |
S147T |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,519,233 (GRCm39) |
E409G |
probably benign |
Het |
Cdc34b |
C |
T |
11: 94,632,886 (GRCm39) |
R29W |
probably damaging |
Het |
Clic6 |
T |
A |
16: 92,324,954 (GRCm39) |
Y371N |
probably benign |
Het |
Col5a2 |
A |
G |
1: 45,425,991 (GRCm39) |
|
probably null |
Het |
Coro1a |
A |
T |
7: 126,302,221 (GRCm39) |
V42D |
probably damaging |
Het |
Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
Crb1 |
A |
C |
1: 139,170,756 (GRCm39) |
V817G |
probably damaging |
Het |
Cyp2c39 |
A |
G |
19: 39,549,378 (GRCm39) |
T299A |
possibly damaging |
Het |
Dock5 |
G |
A |
14: 68,029,738 (GRCm39) |
R1019C |
probably benign |
Het |
Exoc8 |
T |
C |
8: 125,622,952 (GRCm39) |
T472A |
probably benign |
Het |
Fancc |
A |
G |
13: 63,469,679 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
T |
A |
7: 27,852,733 (GRCm39) |
M1340K |
probably benign |
Het |
Inpp5d |
T |
C |
1: 87,604,064 (GRCm39) |
L244P |
probably damaging |
Het |
Krt35 |
T |
C |
11: 99,984,875 (GRCm39) |
D261G |
probably damaging |
Het |
Lipc |
T |
A |
9: 70,720,192 (GRCm39) |
I272L |
probably benign |
Het |
Lpcat3 |
A |
G |
6: 124,676,357 (GRCm39) |
|
probably benign |
Het |
Lzts1 |
T |
C |
8: 69,591,236 (GRCm39) |
D304G |
probably benign |
Het |
Mdn1 |
A |
G |
4: 32,774,008 (GRCm39) |
I5540V |
possibly damaging |
Het |
Msln |
T |
C |
17: 25,970,563 (GRCm39) |
S231G |
probably benign |
Het |
Mup8 |
G |
A |
4: 60,221,062 (GRCm39) |
T101M |
probably benign |
Het |
Myh8 |
T |
C |
11: 67,179,179 (GRCm39) |
I524T |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,589,189 (GRCm39) |
C1679R |
probably damaging |
Het |
Pcdhb1 |
T |
C |
18: 37,399,416 (GRCm39) |
S456P |
possibly damaging |
Het |
Pcdhga5 |
A |
G |
18: 37,828,719 (GRCm39) |
N389S |
probably benign |
Het |
Pitrm1 |
C |
A |
13: 6,617,507 (GRCm39) |
S620R |
probably benign |
Het |
Plod3 |
T |
A |
5: 137,023,932 (GRCm39) |
|
probably benign |
Het |
Por |
A |
T |
5: 135,759,771 (GRCm39) |
Q194L |
probably benign |
Het |
Prkag3 |
A |
T |
1: 74,780,646 (GRCm39) |
Y396N |
probably damaging |
Het |
R3hcc1 |
T |
C |
14: 69,935,053 (GRCm39) |
|
probably null |
Het |
Rcan3 |
C |
T |
4: 135,152,592 (GRCm39) |
S43N |
probably damaging |
Het |
Rhot1 |
A |
G |
11: 80,111,098 (GRCm39) |
T31A |
probably damaging |
Het |
Rnps1 |
T |
G |
17: 24,637,486 (GRCm39) |
S43A |
unknown |
Het |
Rp1 |
T |
C |
1: 4,416,426 (GRCm39) |
D1562G |
possibly damaging |
Het |
Rps19-ps13 |
A |
G |
18: 40,859,428 (GRCm39) |
|
noncoding transcript |
Het |
Serpina3c |
A |
T |
12: 104,115,771 (GRCm39) |
S258T |
possibly damaging |
Het |
Smc2 |
G |
A |
4: 52,460,181 (GRCm39) |
R519Q |
possibly damaging |
Het |
Sorbs2 |
A |
T |
8: 46,248,767 (GRCm39) |
T593S |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,787,885 (GRCm39) |
T955A |
probably benign |
Het |
Stfa3 |
T |
C |
16: 36,272,581 (GRCm39) |
K40E |
probably damaging |
Het |
Tmem87b |
A |
G |
2: 128,666,378 (GRCm39) |
E75G |
probably benign |
Het |
Tmprss15 |
T |
C |
16: 78,800,298 (GRCm39) |
Q595R |
probably benign |
Het |
Trak1 |
A |
T |
9: 121,289,478 (GRCm39) |
I597F |
probably damaging |
Het |
Trat1 |
T |
C |
16: 48,555,300 (GRCm39) |
D144G |
probably damaging |
Het |
Trim25 |
T |
C |
11: 88,890,358 (GRCm39) |
V15A |
probably benign |
Het |
Tulp1 |
A |
C |
17: 28,578,034 (GRCm39) |
|
probably null |
Het |
Txndc15 |
T |
A |
13: 55,865,734 (GRCm39) |
M66K |
probably benign |
Het |
Vmn1r206 |
T |
A |
13: 22,804,775 (GRCm39) |
N144I |
probably damaging |
Het |
Wwc2 |
T |
C |
8: 48,353,796 (GRCm39) |
T113A |
probably benign |
Het |
Xpo5 |
A |
C |
17: 46,528,535 (GRCm39) |
E313D |
probably damaging |
Het |
Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
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 |
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 |
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'- TTTCCACGTGCAGTCTGGAC -3'
(R):5'- GCACTTAGTACATTGCTGGAATG -3'
Sequencing Primer
(F):5'- TCTGGACTGCTCAGTGGAGAC -3'
(R):5'- GCTGGAATGTTCTACAAATTTGC -3'
|
Posted On |
2016-06-21 |