Incidental Mutation 'IGL00970:Ruvbl2'
| ID |
27914 |
| 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 # |
IGL00970
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45071320-45084817 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45078994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 50
(L50P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107771]
[ENSMUST00000210439]
[ENSMUST00000211214]
[ENSMUST00000211666]
|
| AlphaFold |
Q9WTM5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107771
AA Change: L50P
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: L50P
| 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: ENSMUST00000210439
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211214
AA Change: L50P
PolyPhen 2
Score 0.591 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000211440
AA Change: L45P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211666
AA Change: L50P
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,144,149 (GRCm39) |
N910K |
possibly damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,311,938 (GRCm39) |
T184A |
probably benign |
Het |
| Cabp7 |
T |
C |
11: 4,688,931 (GRCm39) |
I180V |
probably benign |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,182 (GRCm39) |
T1752A |
probably benign |
Het |
| Dgkb |
T |
C |
12: 38,240,082 (GRCm39) |
L453P |
probably damaging |
Het |
| Disp2 |
A |
C |
2: 118,622,274 (GRCm39) |
D1002A |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,158,180 (GRCm39) |
P259S |
probably benign |
Het |
| Eif4a3l1 |
A |
G |
6: 136,306,109 (GRCm39) |
D169G |
probably damaging |
Het |
| Fam227b |
A |
T |
2: 125,968,980 (GRCm39) |
D31E |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,488,049 (GRCm39) |
V92A |
probably benign |
Het |
| Fhod1 |
C |
A |
8: 106,058,734 (GRCm39) |
V745L |
possibly damaging |
Het |
| Gprin3 |
T |
C |
6: 59,330,822 (GRCm39) |
E495G |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,453,104 (GRCm39) |
I247T |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,830,812 (GRCm39) |
|
probably benign |
Het |
| Hoatz |
T |
A |
9: 50,994,886 (GRCm39) |
K148* |
probably null |
Het |
| Hspg2 |
C |
A |
4: 137,269,901 (GRCm39) |
Q2311K |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,222,107 (GRCm39) |
Y400C |
probably benign |
Het |
| Lct |
A |
T |
1: 128,231,805 (GRCm39) |
D681E |
probably damaging |
Het |
| Lgalsl |
G |
T |
11: 20,776,493 (GRCm39) |
P133Q |
probably benign |
Het |
| Man2b2 |
C |
T |
5: 36,973,487 (GRCm39) |
W76* |
probably null |
Het |
| Mylk4 |
T |
C |
13: 32,899,905 (GRCm39) |
E326G |
probably damaging |
Het |
| Odam |
T |
G |
5: 88,034,467 (GRCm39) |
|
probably benign |
Het |
| Pabpc4 |
T |
C |
4: 123,180,608 (GRCm39) |
I110T |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,215,172 (GRCm39) |
D47V |
probably damaging |
Het |
| Plekhg4 |
C |
T |
8: 106,105,067 (GRCm39) |
R577C |
probably benign |
Het |
| Pnpo |
C |
A |
11: 96,834,618 (GRCm39) |
C26F |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,101,493 (GRCm39) |
I1071M |
probably benign |
Het |
| Prr23a2 |
A |
G |
9: 98,739,014 (GRCm39) |
D124G |
probably benign |
Het |
| Rexo1 |
C |
T |
10: 80,386,798 (GRCm39) |
V87I |
probably damaging |
Het |
| Robo2 |
C |
A |
16: 73,693,934 (GRCm39) |
V1502L |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,595,021 (GRCm39) |
K2534E |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,691,595 (GRCm39) |
H229R |
possibly damaging |
Het |
| Sesn3 |
A |
G |
9: 14,232,438 (GRCm39) |
D237G |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,003,662 (GRCm39) |
S1785P |
possibly damaging |
Het |
| Slc11a1 |
A |
G |
1: 74,419,821 (GRCm39) |
T165A |
probably damaging |
Het |
| Star |
G |
A |
8: 26,302,894 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,653,152 (GRCm39) |
N575Y |
probably damaging |
Het |
| Unc5d |
T |
C |
8: 29,186,456 (GRCm39) |
T598A |
probably benign |
Het |
| Vmn1r200 |
A |
T |
13: 22,579,893 (GRCm39) |
Q232L |
probably damaging |
Het |
| Wdr31 |
T |
C |
4: 62,375,757 (GRCm39) |
T233A |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,806,071 (GRCm39) |
R2669Q |
probably benign |
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 |
|
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 |
|
IGL02282:Ruvbl2
|
APN |
7 |
45,074,589 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation