Incidental Mutation 'R4037:Ruvbl1'
| ID |
313755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ruvbl1
|
| Ensembl Gene |
ENSMUSG00000030079 |
| Gene Name |
RuvB-like AAA ATPase 1 |
| Synonyms |
Pontin52, 2510009G06Rik, Tip49a |
| MMRRC Submission |
040964-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R4037 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
88442391-88474548 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88450117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 96
(M96K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032165
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032165]
[ENSMUST00000129035]
|
| AlphaFold |
P60122 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032165
AA Change: M96K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032165
Gene: ENSMUSG00000030079
AA Change: M96K
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
62 |
365 |
1.51e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129035
AA Change: M36K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117925
Gene: ENSMUSG00000030079
AA Change: M36K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_19
|
1 |
77 |
1.3e-7 |
PFAM |
|
Pfam:TIP49
|
1 |
134 |
2.7e-60 |
PFAM |
|
Pfam:RuvB_N
|
2 |
52 |
5.5e-7 |
PFAM |
|
Pfam:AAA
|
6 |
80 |
1.5e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.9492 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
93% (37/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has both DNA-dependent ATPase and DNA helicase activities and belongs to the ATPases associated with diverse cellular activities (AAA+) protein family. The encoded protein associates with several multisubunit transcriptional complexes and with protein complexes involved in both ATP-dependent remodeling and histone modification. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a null allele show impaired proliferation of the pluripotent inner mass cells and embryonic lethality before implantation. Conditional ablation of this gene in hematopoietic tissues leads to bone marrow failure involving apoptotic loss of hematopoietic stem cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
G |
15: 64,597,319 (GRCm39) |
F881L |
probably benign |
Het |
| Capn6 |
A |
G |
X: 142,590,859 (GRCm39) |
W291R |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,398,033 (GRCm39) |
I776V |
probably damaging |
Het |
| Cpne5 |
C |
T |
17: 29,378,087 (GRCm39) |
R564H |
unknown |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dcc |
A |
G |
18: 72,483,468 (GRCm39) |
L17P |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Efcc1 |
C |
T |
6: 87,708,490 (GRCm39) |
Q206* |
probably null |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,776,987 (GRCm39) |
T226A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,648,253 (GRCm39) |
T678S |
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,403 (GRCm39) |
V193A |
probably benign |
Het |
| Man1c1 |
C |
T |
4: 134,320,650 (GRCm39) |
D217N |
probably damaging |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,249,290 (GRCm39) |
S1338L |
probably damaging |
Het |
| Ogfrl1 |
T |
C |
1: 23,418,045 (GRCm39) |
|
probably benign |
Het |
| Or4a73 |
C |
T |
2: 89,421,379 (GRCm39) |
V27I |
probably benign |
Het |
| Or4c113 |
A |
G |
2: 88,885,032 (GRCm39) |
V246A |
probably damaging |
Het |
| Pax4 |
A |
G |
6: 28,443,882 (GRCm39) |
I241T |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,514,793 (GRCm39) |
S537G |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,685,881 (GRCm39) |
I1880V |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,835,935 (GRCm39) |
N885D |
probably benign |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc36a2 |
T |
C |
11: 55,055,101 (GRCm39) |
D318G |
probably benign |
Het |
| Slc38a4 |
G |
A |
15: 96,894,923 (GRCm39) |
A531V |
probably benign |
Het |
| Stat3 |
C |
T |
11: 100,783,951 (GRCm39) |
G658R |
probably damaging |
Het |
| Tnfrsf11a |
A |
G |
1: 105,755,464 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
G |
T |
16: 32,489,614 (GRCm39) |
A298S |
probably damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
|
| Other mutations in Ruvbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Ruvbl1
|
APN |
6 |
88,461,385 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00473:Ruvbl1
|
APN |
6 |
88,468,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01768:Ruvbl1
|
APN |
6 |
88,474,253 (GRCm39) |
missense |
probably benign |
|
|
IGL03354:Ruvbl1
|
APN |
6 |
88,456,197 (GRCm39) |
nonsense |
probably null |
|
|
R0106:Ruvbl1
|
UTSW |
6 |
88,450,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Ruvbl1
|
UTSW |
6 |
88,450,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Ruvbl1
|
UTSW |
6 |
88,461,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0676:Ruvbl1
|
UTSW |
6 |
88,450,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1448:Ruvbl1
|
UTSW |
6 |
88,444,551 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1561:Ruvbl1
|
UTSW |
6 |
88,456,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Ruvbl1
|
UTSW |
6 |
88,456,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1623:Ruvbl1
|
UTSW |
6 |
88,462,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Ruvbl1
|
UTSW |
6 |
88,460,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2372:Ruvbl1
|
UTSW |
6 |
88,462,779 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2397:Ruvbl1
|
UTSW |
6 |
88,442,534 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2894:Ruvbl1
|
UTSW |
6 |
88,456,114 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4604:Ruvbl1
|
UTSW |
6 |
88,462,887 (GRCm39) |
missense |
probably benign |
|
|
R4684:Ruvbl1
|
UTSW |
6 |
88,468,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4714:Ruvbl1
|
UTSW |
6 |
88,461,412 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4835:Ruvbl1
|
UTSW |
6 |
88,474,211 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4939:Ruvbl1
|
UTSW |
6 |
88,460,021 (GRCm39) |
splice site |
probably null |
|
|
R5114:Ruvbl1
|
UTSW |
6 |
88,474,272 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5126:Ruvbl1
|
UTSW |
6 |
88,462,883 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5296:Ruvbl1
|
UTSW |
6 |
88,462,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5507:Ruvbl1
|
UTSW |
6 |
88,444,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5559:Ruvbl1
|
UTSW |
6 |
88,450,078 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5819:Ruvbl1
|
UTSW |
6 |
88,460,097 (GRCm39) |
splice site |
probably null |
|
|
R6048:Ruvbl1
|
UTSW |
6 |
88,459,973 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6155:Ruvbl1
|
UTSW |
6 |
88,456,107 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6564:Ruvbl1
|
UTSW |
6 |
88,456,208 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6704:Ruvbl1
|
UTSW |
6 |
88,456,187 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7681:Ruvbl1
|
UTSW |
6 |
88,444,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8071:Ruvbl1
|
UTSW |
6 |
88,450,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Ruvbl1
|
UTSW |
6 |
88,474,355 (GRCm39) |
missense |
probably benign |
|
|
R9274:Ruvbl1
|
UTSW |
6 |
88,474,334 (GRCm39) |
missense |
probably benign |
|
|
R9670:Ruvbl1
|
UTSW |
6 |
88,444,558 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGAATGTGCCTGTGAAG -3'
(R):5'- TTGACAACCAAGAAGCTGCAAG -3'
Sequencing Primer
(F):5'- AATGTGCCTGTGAAGGTAGAG -3'
(R):5'- AAGCTGCAAGGCACCTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation