Incidental Mutation 'R7590:Ireb2'
| ID |
587360 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ireb2
|
| Ensembl Gene |
ENSMUSG00000032293 |
| Gene Name |
iron responsive element binding protein 2 |
| Synonyms |
Irp2, D9Ertd85e |
| MMRRC Submission |
045669-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7590 (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 A
at 54803779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 490
(V490D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034843]
|
| AlphaFold |
Q811J3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034843
AA Change: V490D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000034843
Gene: ENSMUSG00000032293
AA Change: V490D
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,829,341 (GRCm39) |
T1373S |
probably damaging |
Het |
| Bbox1 |
A |
T |
2: 110,098,577 (GRCm39) |
N333K |
probably benign |
Het |
| Bcl11b |
T |
A |
12: 107,969,402 (GRCm39) |
M1L |
probably benign |
Het |
| C1s2 |
T |
A |
6: 124,609,087 (GRCm39) |
I157F |
probably damaging |
Het |
| Casp1 |
T |
A |
9: 5,306,710 (GRCm39) |
M384K |
probably damaging |
Het |
| Chpt1 |
A |
G |
10: 88,316,688 (GRCm39) |
S257P |
probably damaging |
Het |
| Dennd4a |
G |
A |
9: 64,795,869 (GRCm39) |
G731D |
probably benign |
Het |
| Dlk2 |
A |
T |
17: 46,609,609 (GRCm39) |
S21C |
probably benign |
Het |
| Ell2 |
T |
C |
13: 75,918,854 (GRCm39) |
L620P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,752,435 (GRCm39) |
V414A |
probably benign |
Het |
| Fmo1 |
T |
A |
1: 162,687,251 (GRCm39) |
|
probably benign |
Het |
| Fyb2 |
A |
G |
4: 104,802,443 (GRCm39) |
N115S |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
| Hecw1 |
A |
G |
13: 14,438,668 (GRCm39) |
V905A |
probably damaging |
Het |
| Itprid2 |
G |
T |
2: 79,488,454 (GRCm39) |
V846F |
possibly damaging |
Het |
| Lbr |
A |
G |
1: 181,649,076 (GRCm39) |
S348P |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,409,330 (GRCm39) |
D191E |
possibly damaging |
Het |
| Mlip |
A |
T |
9: 77,137,325 (GRCm39) |
D527E |
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,167,679 (GRCm39) |
Y1088C |
probably damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nckap5 |
G |
T |
1: 125,954,270 (GRCm39) |
Q761K |
probably benign |
Het |
| Neb |
A |
T |
2: 52,133,854 (GRCm39) |
D3376E |
probably damaging |
Het |
| Nek10 |
A |
G |
14: 15,006,693 (GRCm38) |
*1116W |
probably null |
Het |
| Or2t43 |
T |
C |
11: 58,458,085 (GRCm39) |
I29V |
probably benign |
Het |
| Or52d3 |
T |
C |
7: 104,229,149 (GRCm39) |
S99P |
probably damaging |
Het |
| Or5p1 |
A |
T |
7: 107,916,386 (GRCm39) |
H95L |
probably benign |
Het |
| Pak2 |
A |
T |
16: 31,871,014 (GRCm39) |
I56K |
probably benign |
Het |
| Pgm5 |
T |
C |
19: 24,686,629 (GRCm39) |
Y526C |
probably damaging |
Het |
| Phc2 |
T |
A |
4: 128,641,820 (GRCm39) |
L714H |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,232 (GRCm39) |
D223E |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
| Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
| Rbm6 |
A |
T |
9: 107,668,949 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,495,466 (GRCm39) |
M352T |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,022,213 (GRCm39) |
V548I |
possibly damaging |
Het |
| Slc13a4 |
T |
A |
6: 35,256,398 (GRCm39) |
I321F |
possibly damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,771 (GRCm39) |
S85P |
possibly damaging |
Het |
| Speer4a2 |
G |
T |
5: 26,290,764 (GRCm39) |
H136N |
possibly damaging |
Het |
| Ssb |
G |
A |
2: 69,697,634 (GRCm39) |
A122T |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ten1 |
T |
C |
11: 116,096,466 (GRCm39) |
L40P |
possibly damaging |
Het |
| Tex10 |
A |
C |
4: 48,467,725 (GRCm39) |
V358G |
probably damaging |
Het |
| Tmprss11c |
A |
T |
5: 86,387,332 (GRCm39) |
H195Q |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,085,810 (GRCm39) |
V31A |
possibly damaging |
Het |
| Trim29 |
G |
A |
9: 43,222,788 (GRCm39) |
A206T |
probably damaging |
Het |
| Trim71 |
A |
C |
9: 114,391,893 (GRCm39) |
V98G |
probably benign |
Het |
| Trpm6 |
C |
G |
19: 18,809,945 (GRCm39) |
L1114V |
probably benign |
Het |
| Usp1 |
A |
G |
4: 98,822,489 (GRCm39) |
D601G |
possibly damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,485,194 (GRCm39) |
I767F |
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 |
|
|
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 |
|
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'- ATGAATTGGACCTTCTGAATGGTG -3'
(R):5'- CAGTAATTCTCCCCTTGCACAG -3'
Sequencing Primer
(F):5'- GTGGACCTTATGTGTCACAGTAGAAC -3'
(R):5'- AGTAATTCTCCCCTTGCACAGTATAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation