Incidental Mutation 'R6754:Ruvbl2'
ID |
530959 |
Institutional Source |
Beutler Lab
|
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 # |
R6754 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
45071320-45084817 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45078182 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 97
(D97G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148040
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107771]
[ENSMUST00000210439]
[ENSMUST00000211214]
[ENSMUST00000211666]
|
AlphaFold |
Q9WTM5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107771
AA Change: D97G
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103400 Gene: ENSMUSG00000003868 AA Change: D97G
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
AA Change: D77G
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211214
AA Change: D97G
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
unknown
Transcript: ENSMUST00000211440
AA Change: D92G
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211478
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211666
AA Change: D97G
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
T |
C |
17: 57,190,358 (GRCm39) |
F352L |
probably damaging |
Het |
Acta2 |
T |
C |
19: 34,222,383 (GRCm39) |
D246G |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,890,488 (GRCm39) |
|
probably benign |
Het |
Bmpr2 |
T |
A |
1: 59,909,439 (GRCm39) |
I971N |
probably damaging |
Het |
C9 |
C |
A |
15: 6,519,424 (GRCm39) |
C8* |
probably null |
Het |
Casp2 |
T |
A |
6: 42,246,264 (GRCm39) |
N207K |
probably damaging |
Het |
Cd302 |
T |
G |
2: 60,102,451 (GRCm39) |
D56A |
probably benign |
Het |
Cecr2 |
C |
T |
6: 120,734,539 (GRCm39) |
P605S |
probably damaging |
Het |
Cep152 |
A |
G |
2: 125,429,588 (GRCm39) |
V723A |
probably damaging |
Het |
Col17a1 |
C |
T |
19: 47,639,160 (GRCm39) |
|
probably null |
Het |
Ctsk |
T |
C |
3: 95,409,996 (GRCm39) |
V168A |
probably damaging |
Het |
Cyp2c54 |
A |
T |
19: 40,060,004 (GRCm39) |
N176K |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
F5 |
A |
G |
1: 164,021,332 (GRCm39) |
D1269G |
probably damaging |
Het |
Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
Hivep2 |
G |
A |
10: 14,005,382 (GRCm39) |
G660D |
probably benign |
Het |
Hspb3 |
A |
T |
13: 113,799,688 (GRCm39) |
I114K |
probably damaging |
Het |
Irag1 |
G |
A |
7: 110,528,719 (GRCm39) |
P43S |
probably damaging |
Het |
Itgb7 |
T |
G |
15: 102,124,595 (GRCm39) |
*807C |
probably null |
Het |
Kbtbd2 |
A |
G |
6: 56,756,239 (GRCm39) |
V499A |
probably damaging |
Het |
Lemd3 |
A |
T |
10: 120,769,565 (GRCm39) |
I589N |
probably damaging |
Het |
Mettl13 |
T |
C |
1: 162,375,692 (GRCm39) |
Y45C |
probably damaging |
Het |
Mllt6 |
C |
T |
11: 97,565,273 (GRCm39) |
T571I |
probably damaging |
Het |
Nabp1 |
A |
G |
1: 51,513,699 (GRCm39) |
I99T |
probably damaging |
Het |
Ndufa4 |
A |
G |
6: 11,906,052 (GRCm39) |
V33A |
probably benign |
Het |
Nr1h5 |
A |
G |
3: 102,856,913 (GRCm39) |
S200P |
probably damaging |
Het |
Ntsr1 |
G |
A |
2: 180,184,476 (GRCm39) |
R393H |
probably benign |
Het |
Obi1 |
C |
T |
14: 104,740,850 (GRCm39) |
E191K |
probably damaging |
Het |
Or14j4 |
T |
C |
17: 37,921,046 (GRCm39) |
N199D |
probably benign |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Pcdhb21 |
A |
T |
18: 37,647,736 (GRCm39) |
K288N |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,190,510 (GRCm39) |
N351D |
probably benign |
Het |
Polg |
T |
C |
7: 79,109,584 (GRCm39) |
E411G |
probably damaging |
Het |
Prdm11 |
A |
G |
2: 92,844,137 (GRCm39) |
L31P |
probably damaging |
Het |
Rab27b |
G |
A |
18: 70,129,174 (GRCm39) |
T40I |
probably damaging |
Het |
Saxo4 |
A |
T |
19: 10,454,453 (GRCm39) |
Y328N |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,649,243 (GRCm39) |
V664A |
possibly damaging |
Het |
Sh2d3c |
T |
C |
2: 32,644,542 (GRCm39) |
S842P |
probably damaging |
Het |
Spam1 |
A |
G |
6: 24,796,315 (GRCm39) |
T89A |
probably damaging |
Het |
Stab1 |
C |
T |
14: 30,863,038 (GRCm39) |
G2187E |
probably benign |
Het |
Tff2 |
C |
A |
17: 31,363,207 (GRCm39) |
A6S |
probably benign |
Het |
Trim80 |
T |
C |
11: 115,339,000 (GRCm39) |
V610A |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,101,057 (GRCm39) |
V47A |
possibly damaging |
Het |
Ufl1 |
G |
A |
4: 25,267,796 (GRCm39) |
Q292* |
probably null |
Het |
Ulk1 |
A |
T |
5: 110,938,259 (GRCm39) |
V571E |
possibly damaging |
Het |
Usp24 |
A |
T |
4: 106,217,617 (GRCm39) |
N447Y |
probably damaging |
Het |
Vmn1r81 |
A |
T |
7: 11,993,774 (GRCm39) |
I278K |
probably 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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCGGTCAATCTGGATCTCTAC -3'
(R):5'- TGCAAGGTGACTCGTACTAAGAC -3'
Sequencing Primer
(F):5'- ACAGCACAGTCTGGGTCAG -3'
(R):5'- TGACTCGTACTAAGACAGAAGAGTAC -3'
|
Posted On |
2018-08-01 |