Incidental Mutation 'IGL00435:Ruvbl2'
| ID |
5255 |
| 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 # |
IGL00435
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45071320-45084817 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45074596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 181
(S181T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147502
(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: S181T
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868
AA Change: S181T
| 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: S161T
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211214
AA Change: S181T
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211440
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211666
AA Change: S181T
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
A |
T |
17: 68,152,796 (GRCm39) |
D657E |
probably damaging |
Het |
| Cd200l1 |
A |
T |
16: 45,264,483 (GRCm39) |
L25Q |
probably damaging |
Het |
| Cd68 |
T |
C |
11: 69,556,676 (GRCm39) |
T44A |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,733,678 (GRCm39) |
T555M |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,701,628 (GRCm39) |
Q169R |
probably damaging |
Het |
| Cs |
T |
C |
10: 128,195,912 (GRCm39) |
F374L |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,393,226 (GRCm39) |
E181G |
probably damaging |
Het |
| Efcab12 |
T |
C |
6: 115,800,625 (GRCm39) |
T133A |
probably benign |
Het |
| Esr2 |
G |
A |
12: 76,180,653 (GRCm39) |
R423W |
probably damaging |
Het |
| Eya4 |
T |
C |
10: 23,034,995 (GRCm39) |
Y120C |
probably benign |
Het |
| Fbxw8 |
A |
G |
5: 118,206,202 (GRCm39) |
M582T |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,863,953 (GRCm39) |
D2575V |
probably damaging |
Het |
| Ghsr |
A |
G |
3: 27,426,532 (GRCm39) |
E196G |
possibly damaging |
Het |
| Gm10024 |
G |
A |
10: 77,547,295 (GRCm39) |
|
probably benign |
Het |
| Gpr65 |
A |
G |
12: 98,241,815 (GRCm39) |
E156G |
probably damaging |
Het |
| Gtf3c3 |
T |
C |
1: 54,466,694 (GRCm39) |
Y249C |
possibly damaging |
Het |
| H2-T23 |
G |
A |
17: 36,342,673 (GRCm39) |
A155V |
probably damaging |
Het |
| Hadha |
A |
G |
5: 30,327,171 (GRCm39) |
S556P |
probably benign |
Het |
| Hdac7 |
T |
A |
15: 97,707,376 (GRCm39) |
K187N |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,255 (GRCm39) |
I332V |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,407,600 (GRCm39) |
D1198G |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,129,410 (GRCm39) |
L159P |
probably damaging |
Het |
| Me2 |
T |
C |
18: 73,903,713 (GRCm39) |
E585G |
probably benign |
Het |
| Nfu1 |
A |
T |
6: 86,992,577 (GRCm39) |
T64S |
probably damaging |
Het |
| Nsd3 |
A |
G |
8: 26,166,728 (GRCm39) |
D632G |
probably benign |
Het |
| Pcna |
T |
C |
2: 132,093,852 (GRCm39) |
D97G |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,265,612 (GRCm39) |
|
probably benign |
Het |
| Phactr1 |
C |
A |
13: 43,110,122 (GRCm39) |
R2S |
probably damaging |
Het |
| Psmd11 |
T |
A |
11: 80,361,210 (GRCm39) |
I347N |
possibly damaging |
Het |
| Rad21l |
T |
C |
2: 151,495,436 (GRCm39) |
T416A |
probably benign |
Het |
| Rxrb |
A |
G |
17: 34,253,049 (GRCm39) |
T109A |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,490,494 (GRCm39) |
Y3785F |
probably damaging |
Het |
| Sec16a |
T |
C |
2: 26,320,113 (GRCm39) |
T1442A |
probably benign |
Het |
| Slc6a14 |
T |
A |
X: 21,600,363 (GRCm39) |
|
probably benign |
Het |
| Slco2b1 |
G |
A |
7: 99,309,259 (GRCm39) |
Q691* |
probably null |
Het |
| Tent5c |
A |
G |
3: 100,380,672 (GRCm39) |
V28A |
probably damaging |
Het |
| Them5 |
A |
G |
3: 94,253,496 (GRCm39) |
T169A |
possibly damaging |
Het |
| Trav13-2 |
T |
C |
14: 53,872,688 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tst |
A |
T |
15: 78,289,661 (GRCm39) |
S125T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,630,868 (GRCm39) |
T14179A |
probably benign |
Het |
| Vps37b |
A |
G |
5: 124,148,850 (GRCm39) |
Y62H |
probably damaging |
Het |
|
| Other mutations in Ruvbl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation