Incidental Mutation 'R5227:Ireb2'
ID |
402684 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ireb2
|
Ensembl Gene |
ENSMUSG00000032293 |
Gene Name |
iron responsive element binding protein 2 |
Synonyms |
Irp2, D9Ertd85e |
MMRRC Submission |
042800-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5227 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
54771073-54819814 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 54803885 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034843
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034843]
[ENSMUST00000034843]
[ENSMUST00000034843]
|
AlphaFold |
Q811J3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034843
|
SMART Domains |
Protein: ENSMUSP00000034843 Gene: ENSMUSG00000032293
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 null
Transcript: ENSMUST00000034843
|
SMART Domains |
Protein: ENSMUSP00000034843 Gene: ENSMUSG00000032293
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 null
Transcript: ENSMUST00000034843
|
SMART Domains |
Protein: ENSMUSP00000034843 Gene: ENSMUSG00000032293
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: 99.5%
- 3x: 99.0%
- 10x: 98.2%
- 20x: 97.2%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
T |
C |
17: 84,999,249 (GRCm39) |
L115P |
probably damaging |
Het |
Adgrb3 |
A |
C |
1: 25,133,033 (GRCm39) |
M481R |
possibly damaging |
Het |
Adgrd1 |
C |
A |
5: 129,199,647 (GRCm39) |
N161K |
probably benign |
Het |
Alx4 |
T |
A |
2: 93,507,725 (GRCm39) |
V340D |
probably damaging |
Het |
Arid1a |
A |
G |
4: 133,407,716 (GRCm39) |
S2264P |
unknown |
Het |
Azi2 |
A |
T |
9: 117,876,526 (GRCm39) |
H14L |
probably damaging |
Het |
Camsap2 |
A |
G |
1: 136,202,629 (GRCm39) |
|
probably benign |
Het |
Ccpg1 |
T |
A |
9: 72,919,354 (GRCm39) |
L323* |
probably null |
Het |
Cpsf1 |
A |
T |
15: 76,483,148 (GRCm39) |
I943N |
probably damaging |
Het |
Crebrf |
T |
A |
17: 26,978,739 (GRCm39) |
Y476N |
probably damaging |
Het |
Defb10 |
T |
A |
8: 22,351,894 (GRCm39) |
Y46* |
probably null |
Het |
Dock3 |
A |
G |
9: 106,863,269 (GRCm39) |
L703P |
probably damaging |
Het |
Ebf2 |
A |
T |
14: 67,484,518 (GRCm39) |
I181F |
probably damaging |
Het |
Eif3e |
T |
A |
15: 43,114,917 (GRCm39) |
M420L |
probably benign |
Het |
Emilin3 |
T |
A |
2: 160,751,185 (GRCm39) |
Q188L |
probably damaging |
Het |
Fbxl4 |
C |
T |
4: 22,376,840 (GRCm39) |
T92M |
probably damaging |
Het |
Fer1l6 |
C |
T |
15: 58,453,752 (GRCm39) |
Q687* |
probably null |
Het |
Fkrp |
T |
C |
7: 16,544,635 (GRCm39) |
E409G |
possibly damaging |
Het |
Fzd9 |
T |
C |
5: 135,278,460 (GRCm39) |
D475G |
probably benign |
Het |
Gabbr1 |
C |
T |
17: 37,380,958 (GRCm39) |
T767I |
possibly damaging |
Het |
Gdf2 |
G |
A |
14: 33,663,451 (GRCm39) |
|
probably null |
Het |
Gpatch1 |
T |
C |
7: 35,008,776 (GRCm39) |
N82D |
probably benign |
Het |
Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
Kansl1 |
T |
G |
11: 104,247,640 (GRCm39) |
H570P |
probably benign |
Het |
Kcna10 |
T |
G |
3: 107,101,744 (GRCm39) |
M125R |
probably damaging |
Het |
Lrp1b |
T |
G |
2: 40,741,805 (GRCm39) |
I3041L |
possibly damaging |
Het |
Mbtd1 |
T |
C |
11: 93,815,474 (GRCm39) |
F354S |
possibly damaging |
Het |
Mideas |
A |
T |
12: 84,199,661 (GRCm39) |
F1020I |
probably benign |
Het |
Mov10 |
T |
C |
3: 104,709,894 (GRCm39) |
T331A |
probably benign |
Het |
Ms4a8a |
A |
T |
19: 11,045,780 (GRCm39) |
S243T |
probably damaging |
Het |
Ndufa11 |
T |
C |
17: 57,024,867 (GRCm39) |
S10P |
probably benign |
Het |
Olfml3 |
A |
G |
3: 103,643,737 (GRCm39) |
Y215H |
possibly damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,705 (GRCm39) |
F251I |
possibly damaging |
Het |
Or56b2j |
A |
G |
7: 104,353,529 (GRCm39) |
I252V |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,763,574 (GRCm39) |
S4016P |
probably benign |
Het |
Pcyox1 |
G |
C |
6: 86,368,726 (GRCm39) |
A264G |
probably damaging |
Het |
Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
Pnisr |
A |
G |
4: 21,874,587 (GRCm39) |
|
probably benign |
Het |
Prc1 |
T |
C |
7: 79,962,927 (GRCm39) |
S574P |
probably damaging |
Het |
Ranbp3l |
T |
A |
15: 9,037,186 (GRCm39) |
V16D |
probably damaging |
Het |
Rfx1 |
T |
C |
8: 84,800,687 (GRCm39) |
V96A |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,537,211 (GRCm39) |
|
probably null |
Het |
Siglecf |
T |
C |
7: 43,001,364 (GRCm39) |
Y111H |
probably damaging |
Het |
Snx14 |
G |
A |
9: 88,280,347 (GRCm39) |
T536I |
possibly damaging |
Het |
Spindoc |
A |
G |
19: 7,351,512 (GRCm39) |
V204A |
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,915,812 (GRCm39) |
|
probably benign |
Het |
Swt1 |
G |
A |
1: 151,278,727 (GRCm39) |
Q227* |
probably null |
Het |
Tg |
A |
G |
15: 66,631,416 (GRCm39) |
I562V |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,851,179 (GRCm39) |
I677F |
probably damaging |
Het |
Vmn1r49 |
G |
A |
6: 90,049,753 (GRCm39) |
T83I |
probably benign |
Het |
Vmn1r90 |
T |
C |
7: 14,295,601 (GRCm39) |
K166E |
possibly damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,269,819 (GRCm39) |
I25T |
possibly damaging |
Het |
Vps13d |
A |
T |
4: 144,907,777 (GRCm39) |
|
probably null |
Het |
Zfp106 |
T |
C |
2: 120,354,449 (GRCm39) |
I170V |
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 |
R5159:Ireb2
|
UTSW |
9 |
54,799,831 (GRCm39) |
missense |
probably benign |
|
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'- TGATGTCCAAGTTGTGTTTCCTAC -3'
(R):5'- CAGTAATTCTCCCCTTGCACAG -3'
Sequencing Primer
(F):5'- GTCCTACCAAGTCTGTAATATTTGC -3'
(R):5'- AGTAATTCTCCCCTTGCACAGTATAC -3'
|
Posted On |
2016-07-22 |