Incidental Mutation 'IGL02282:Ruvbl2'
| ID |
289874 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ruvbl2
|
| Ensembl Gene |
ENSMUSG00000003868 |
| Gene Name |
RuvB-like AAA ATPase 2 |
| Synonyms |
p47, mp47 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02282
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45071320-45084817 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45074589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 183
(T183I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072453]
[ENSMUST00000107771]
[ENSMUST00000210271]
[ENSMUST00000210439]
[ENSMUST00000211214]
[ENSMUST00000211666]
|
| AlphaFold |
Q9WTM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072453
|
| SMART Domains |
Protein: ENSMUSP00000072276
Gene: ENSMUSG00000100916
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
GHB
|
25 |
131 |
2.2e-64 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107771
AA Change: T183I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: T183I
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
69 |
361 |
5.17e-10 |
SMART |
|
Blast:AAA
|
373 |
417 |
3e-17 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210439
AA Change: T163I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211214
AA Change: T183I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211440
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211666
AA Change: T183I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211478
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the second human homologue of the bacterial RuvB gene. Bacterial RuvB protein is a DNA helicase essential for homologous recombination and DNA double-strand break repair. Functional analysis showed that this gene product has both ATPase and DNA helicase activities. This gene is physically linked to the CGB/LHB gene cluster on chromosome 19q13.3, and is very close (55 nt) to the LHB gene, in the opposite orientation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit lethality. Mice heterozygous for a knock-out allele exhibit impaired T cell development and maximal T dependent antibody responses. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(12) : Targeted, knock-out(1) Gene trapped(11) |
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,983,351 (GRCm39) |
D1545G |
probably damaging |
Het |
| Baiap3 |
A |
C |
17: 25,468,351 (GRCm39) |
D234E |
probably benign |
Het |
| Bltp2 |
C |
T |
11: 78,175,054 (GRCm39) |
P1730S |
probably benign |
Het |
| Cand1 |
T |
A |
10: 119,046,614 (GRCm39) |
T959S |
probably benign |
Het |
| Ctdspl2 |
A |
G |
2: 121,807,959 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
C |
7: 26,008,472 (GRCm39) |
M205L |
probably benign |
Het |
| Dlx5 |
G |
A |
6: 6,881,762 (GRCm39) |
A42V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,682,669 (GRCm39) |
I267T |
possibly damaging |
Het |
| Dnajb6 |
A |
G |
5: 29,957,416 (GRCm39) |
D66G |
probably damaging |
Het |
| Fgf8 |
T |
C |
19: 45,725,529 (GRCm39) |
H201R |
possibly damaging |
Het |
| Gpc1 |
A |
G |
1: 92,785,689 (GRCm39) |
K460E |
probably damaging |
Het |
| Gzme |
A |
T |
14: 56,355,826 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,878,697 (GRCm39) |
G17D |
probably damaging |
Het |
| Il4 |
G |
A |
11: 53,509,001 (GRCm39) |
T59M |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,125,924 (GRCm39) |
|
probably null |
Het |
| Mill1 |
G |
T |
7: 17,997,129 (GRCm39) |
|
probably null |
Het |
| Npbwr1 |
A |
T |
1: 5,987,184 (GRCm39) |
M110K |
possibly damaging |
Het |
| Opalin |
A |
T |
19: 41,054,943 (GRCm39) |
S84T |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,632,622 (GRCm39) |
D276E |
probably damaging |
Het |
| Or7g30 |
A |
G |
9: 19,352,914 (GRCm39) |
Y235C |
probably benign |
Het |
| Or8b35 |
A |
T |
9: 37,904,318 (GRCm39) |
I177F |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,881 (GRCm39) |
L737P |
probably damaging |
Het |
| Phip |
G |
A |
9: 82,795,743 (GRCm39) |
S626L |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,919,322 (GRCm39) |
D435G |
probably damaging |
Het |
| Prss37 |
A |
G |
6: 40,492,317 (GRCm39) |
V178A |
possibly damaging |
Het |
| Ptpn7 |
A |
G |
1: 135,062,572 (GRCm39) |
I104V |
probably damaging |
Het |
| Ptprn |
A |
G |
1: 75,229,800 (GRCm39) |
Y700H |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,314,534 (GRCm39) |
T555S |
probably damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,020,614 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,539,026 (GRCm39) |
R41H |
probably damaging |
Het |
| Rps3 |
A |
G |
7: 99,128,479 (GRCm39) |
|
probably null |
Het |
| Sema4c |
A |
T |
1: 36,589,284 (GRCm39) |
|
probably null |
Het |
| Shoc1 |
A |
C |
4: 59,111,114 (GRCm39) |
Y53D |
unknown |
Het |
| Taar8b |
T |
A |
10: 23,967,453 (GRCm39) |
K247I |
possibly damaging |
Het |
| Tacr3 |
A |
T |
3: 134,566,834 (GRCm39) |
I236F |
probably benign |
Het |
| Ttc21b |
A |
G |
2: 66,022,081 (GRCm39) |
I1168T |
probably damaging |
Het |
| Ttc9b |
A |
T |
7: 27,355,336 (GRCm39) |
D202V |
probably damaging |
Het |
| Vmn2r26 |
T |
G |
6: 124,038,584 (GRCm39) |
C720G |
probably damaging |
Het |
| Vmn2r37 |
A |
G |
7: 9,209,761 (GRCm39) |
S584P |
probably benign |
Het |
| Wnk2 |
T |
A |
13: 49,221,601 (GRCm39) |
D1208V |
probably damaging |
Het |
| Zfp988 |
T |
A |
4: 147,416,125 (GRCm39) |
C186* |
probably null |
Het |
| Zp3 |
A |
G |
5: 136,013,205 (GRCm39) |
N179S |
possibly damaging |
Het |
|
| Other mutations in Ruvbl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00435:Ruvbl2
|
APN |
7 |
45,074,596 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL00970:Ruvbl2
|
APN |
7 |
45,078,994 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL01084:Ruvbl2
|
APN |
7 |
45,071,947 (GRCm39) |
splice site |
probably null |
|
|
IGL01382:Ruvbl2
|
APN |
7 |
45,072,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01798:Ruvbl2
|
APN |
7 |
45,071,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01936:Ruvbl2
|
APN |
7 |
45,078,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Worker
|
UTSW |
7 |
45,080,742 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R0510:Ruvbl2
|
UTSW |
7 |
45,080,730 (GRCm39) |
splice site |
probably benign |
|
|
R0570:Ruvbl2
|
UTSW |
7 |
45,071,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Ruvbl2
|
UTSW |
7 |
45,073,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1591:Ruvbl2
|
UTSW |
7 |
45,074,135 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1679:Ruvbl2
|
UTSW |
7 |
45,074,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1758:Ruvbl2
|
UTSW |
7 |
45,074,586 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2113:Ruvbl2
|
UTSW |
7 |
45,073,527 (GRCm39) |
splice site |
probably null |
|
|
R3017:Ruvbl2
|
UTSW |
7 |
45,071,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3806:Ruvbl2
|
UTSW |
7 |
45,071,614 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4940:Ruvbl2
|
UTSW |
7 |
45,074,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6045:Ruvbl2
|
UTSW |
7 |
45,074,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6222:Ruvbl2
|
UTSW |
7 |
45,074,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6754:Ruvbl2
|
UTSW |
7 |
45,078,182 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6947:Ruvbl2
|
UTSW |
7 |
45,074,373 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7366:Ruvbl2
|
UTSW |
7 |
45,071,573 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8179:Ruvbl2
|
UTSW |
7 |
45,072,196 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8410:Ruvbl2
|
UTSW |
7 |
45,080,756 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8534:Ruvbl2
|
UTSW |
7 |
45,079,118 (GRCm39) |
splice site |
probably null |
|
|
R9205:Ruvbl2
|
UTSW |
7 |
45,083,741 (GRCm39) |
start gained |
probably benign |
|
|
R9410:Ruvbl2
|
UTSW |
7 |
45,071,618 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation