Incidental Mutation 'R7314:Ireb2'
| ID |
567830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ireb2
|
| Ensembl Gene |
ENSMUSG00000032293 |
| Gene Name |
iron responsive element binding protein 2 |
| Synonyms |
Irp2, D9Ertd85e |
| MMRRC Submission |
045412-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7314 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L13Rik |
G |
A |
7: 29,989,320 (GRCm39) |
V177I |
unknown |
Het |
| 4930596D02Rik |
A |
G |
14: 35,533,606 (GRCm39) |
V54A |
probably benign |
Het |
| Abcc10 |
C |
A |
17: 46,626,330 (GRCm39) |
A704S |
probably damaging |
Het |
| Adss2 |
A |
G |
1: 177,595,317 (GRCm39) |
W408R |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,135,414 (GRCm39) |
E548G |
probably damaging |
Het |
| C4b |
C |
T |
17: 34,959,330 (GRCm39) |
V415I |
probably benign |
Het |
| Celsr3 |
T |
C |
9: 108,706,343 (GRCm39) |
V942A |
probably damaging |
Het |
| Cstf1 |
A |
G |
2: 172,214,954 (GRCm39) |
D25G |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,612,819 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
G |
A |
11: 65,880,677 (GRCm39) |
T2640I |
probably benign |
Het |
| Dnase2b |
T |
C |
3: 146,288,151 (GRCm39) |
I315V |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,295 (GRCm39) |
S397G |
probably benign |
Het |
| Eps8 |
A |
G |
6: 137,504,090 (GRCm39) |
V171A |
possibly damaging |
Het |
| Ghdc |
T |
C |
11: 100,659,928 (GRCm39) |
E273G |
probably damaging |
Het |
| Hmgn2-ps |
C |
T |
8: 73,058,839 (GRCm39) |
G63R |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,645,541 (GRCm39) |
S409T |
probably benign |
Het |
| Jph4 |
TCCATTCTCGTATACCCCA |
TCCA |
14: 55,347,196 (GRCm39) |
|
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,775,755 (GRCm39) |
Y268H |
probably damaging |
Het |
| Krt16 |
T |
C |
11: 100,138,695 (GRCm39) |
D197G |
probably damaging |
Het |
| Lca5 |
T |
C |
9: 83,277,563 (GRCm39) |
K594E |
possibly damaging |
Het |
| Lgi3 |
T |
C |
14: 70,769,552 (GRCm39) |
F84S |
probably damaging |
Het |
| Lingo3 |
T |
C |
10: 80,670,707 (GRCm39) |
I408V |
possibly damaging |
Het |
| Map3k7 |
G |
T |
4: 31,985,769 (GRCm39) |
E231* |
probably null |
Het |
| Nrip1 |
A |
G |
16: 76,088,078 (GRCm39) |
S1160P |
probably benign |
Het |
| Oas1g |
A |
T |
5: 121,016,526 (GRCm39) |
L301Q |
probably damaging |
Het |
| Obox3 |
T |
A |
7: 15,361,079 (GRCm39) |
Q62L |
possibly damaging |
Het |
| Or5d37 |
A |
G |
2: 87,923,458 (GRCm39) |
L274P |
probably benign |
Het |
| Or6b13 |
A |
T |
7: 139,782,326 (GRCm39) |
V119D |
probably damaging |
Het |
| Parp8 |
G |
T |
13: 117,004,996 (GRCm39) |
F727L |
probably benign |
Het |
| Pcdha1 |
T |
C |
18: 37,064,553 (GRCm39) |
Y406H |
probably damaging |
Het |
| Pcdhgb8 |
A |
G |
18: 37,896,052 (GRCm39) |
D374G |
probably damaging |
Het |
| Pdzd8 |
A |
T |
19: 59,289,783 (GRCm39) |
L539* |
probably null |
Het |
| Phkb |
A |
G |
8: 86,669,021 (GRCm39) |
|
probably null |
Het |
| Ppp1r13b |
T |
C |
12: 111,812,790 (GRCm39) |
E143G |
probably damaging |
Het |
| Rpap2 |
T |
C |
5: 107,768,245 (GRCm39) |
V361A |
probably damaging |
Het |
| Setd4 |
T |
C |
16: 93,384,711 (GRCm39) |
T326A |
probably benign |
Het |
| Smad9 |
A |
G |
3: 54,696,744 (GRCm39) |
N270D |
probably benign |
Het |
| Sntg2 |
A |
G |
12: 30,317,107 (GRCm39) |
S172P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,154,150 (GRCm39) |
L101P |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmprss11f |
T |
C |
5: 86,671,912 (GRCm39) |
T427A |
possibly damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,489 (GRCm39) |
V165A |
possibly damaging |
Het |
| Ubr3 |
T |
A |
2: 69,821,944 (GRCm39) |
L1402Q |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,850,622 (GRCm39) |
|
probably null |
Het |
| Zfp369 |
T |
C |
13: 65,439,918 (GRCm39) |
S201P |
probably 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 |
|
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 |
|
|
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'- ACTCGTATAAGCCGGTGTGG -3'
(R):5'- CTAAGAAGTCTGTGGGGCAC -3'
Sequencing Primer
(F):5'- TCTGGACTGCTCAGTGGAGAC -3'
(R):5'- CACTGCCCAAAGATACCTAGCTAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation