Incidental Mutation 'R8410:Ruvbl2'
ID |
652624 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ruvbl2
|
Ensembl Gene |
ENSMUSG00000003868 |
Gene Name |
RuvB-like AAA ATPase 2 |
Synonyms |
p47, mp47 |
MMRRC Submission |
067880-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8410 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45071320-45084817 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45080756 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 19
(I19V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103400
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003964]
[ENSMUST00000107771]
[ENSMUST00000210439]
[ENSMUST00000211150]
[ENSMUST00000211214]
[ENSMUST00000211666]
|
AlphaFold |
Q9WTM5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003964
|
SMART Domains |
Protein: ENSMUSP00000003964 Gene: ENSMUSG00000003865
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_5
|
28 |
274 |
5.2e-8 |
PFAM |
Pfam:Glycogen_syn
|
31 |
663 |
N/A |
PFAM |
low complexity region
|
670 |
686 |
N/A |
INTRINSIC |
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
low complexity region
|
716 |
733 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107771
AA Change: I19V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000103400 Gene: ENSMUSG00000003868 AA Change: I19V
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: I19V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211150
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211214
AA Change: I19V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211666
AA Change: I19V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Meta Mutation Damage Score |
0.0587 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
95% (40/42) |
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 |
1700001K19Rik |
A |
T |
12: 110,635,145 (GRCm39) |
M131K |
probably benign |
Het |
Alox15 |
T |
C |
11: 70,235,753 (GRCm39) |
T569A |
probably benign |
Het |
Arfgef1 |
A |
G |
1: 10,229,867 (GRCm39) |
V1278A |
possibly damaging |
Het |
Armc5 |
C |
T |
7: 127,839,323 (GRCm39) |
R214C |
probably damaging |
Het |
Asl |
A |
G |
5: 130,042,351 (GRCm39) |
F242L |
possibly damaging |
Het |
Atoh1 |
G |
A |
6: 64,706,634 (GRCm39) |
G110S |
probably benign |
Het |
Caskin1 |
T |
C |
17: 24,721,123 (GRCm39) |
F488L |
possibly damaging |
Het |
Chsy1 |
T |
A |
7: 65,775,211 (GRCm39) |
L180Q |
probably damaging |
Het |
D1Pas1 |
A |
T |
1: 186,700,512 (GRCm39) |
Q147L |
probably benign |
Het |
D930020B18Rik |
A |
G |
10: 121,521,435 (GRCm39) |
|
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,395,819 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,380,791 (GRCm39) |
E2512G |
possibly damaging |
Het |
Eci2 |
T |
C |
13: 35,162,018 (GRCm39) |
K351R |
probably benign |
Het |
Frem2 |
A |
G |
3: 53,446,598 (GRCm39) |
V2390A |
possibly damaging |
Het |
Frmpd2 |
G |
A |
14: 33,217,624 (GRCm39) |
A40T |
probably damaging |
Het |
Gapdhs |
G |
A |
7: 30,437,335 (GRCm39) |
P77S |
unknown |
Het |
Heatr5a |
T |
A |
12: 51,984,903 (GRCm39) |
I637F |
probably benign |
Het |
Jakmip1 |
G |
A |
5: 37,274,828 (GRCm39) |
V449M |
possibly damaging |
Het |
Myh14 |
G |
T |
7: 44,282,907 (GRCm39) |
F737L |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,944,684 (GRCm39) |
V560A |
probably damaging |
Het |
Or13n4 |
T |
A |
7: 106,423,745 (GRCm39) |
|
probably benign |
Het |
Or2v2 |
A |
T |
11: 49,004,511 (GRCm39) |
I14N |
possibly damaging |
Het |
Or4f4-ps1 |
T |
A |
2: 111,330,047 (GRCm39) |
M150K |
probably damaging |
Het |
Or6x1 |
C |
T |
9: 40,098,732 (GRCm39) |
T107I |
possibly damaging |
Het |
Prex2 |
G |
T |
1: 11,223,881 (GRCm39) |
R735L |
possibly damaging |
Het |
Rrm2 |
T |
C |
12: 24,758,622 (GRCm39) |
S55P |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
Slc15a5 |
A |
T |
6: 137,989,153 (GRCm39) |
M147K |
|
Het |
St3gal5 |
A |
G |
6: 72,119,281 (GRCm39) |
D158G |
probably benign |
Het |
Stac3 |
G |
A |
10: 127,339,199 (GRCm39) |
D103N |
probably damaging |
Het |
Syt2 |
G |
A |
1: 134,674,602 (GRCm39) |
E347K |
possibly damaging |
Het |
Tent5b |
A |
G |
4: 133,214,362 (GRCm39) |
Q411R |
possibly damaging |
Het |
Ticrr |
A |
G |
7: 79,317,423 (GRCm39) |
E319G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,539,985 (GRCm39) |
S34334P |
probably damaging |
Het |
Uqcrb |
C |
A |
13: 67,048,850 (GRCm39) |
R100L |
unknown |
Het |
Usp43 |
T |
G |
11: 67,747,146 (GRCm39) |
T854P |
probably damaging |
Het |
Vmn2r102 |
T |
C |
17: 19,898,196 (GRCm39) |
Y404H |
possibly damaging |
Het |
Wrn |
C |
T |
8: 33,759,048 (GRCm39) |
G970D |
probably damaging |
Het |
Zfp456 |
A |
G |
13: 67,520,915 (GRCm39) |
Y27H |
probably damaging |
Het |
Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
probably damaging |
Het |
Zyx |
A |
T |
6: 42,333,384 (GRCm39) |
N437Y |
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 |
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 |
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'- CCTCAGAGAGCATGTGACCAAC -3'
(R):5'- TTAGTGATTGATGGCCCAGAGG -3'
Sequencing Primer
(F):5'- GACCAACATGCACTTGTGTG -3'
(R):5'- ATGGCCCAGAGGGTGGTG -3'
|
Posted On |
2020-10-20 |