Incidental Mutation 'R3733:Ola1'
| ID |
271068 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ola1
|
| Ensembl Gene |
ENSMUSG00000027108 |
| Gene Name |
Obg-like ATPase 1 |
| Synonyms |
Gtpbp9, 2510025G09Rik, 2810405J23Rik, 2810409H07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.706)
|
| Stock # |
R3733 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
72923145-73044791 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 72987204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 143
(R143G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097592
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028517]
[ENSMUST00000100015]
[ENSMUST00000112055]
|
| AlphaFold |
Q9CZ30 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028517
AA Change: R143G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: R143G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:FeoB_N
|
23 |
74 |
2.2e-8 |
PFAM |
|
Pfam:MMR_HSR1
|
24 |
164 |
1.2e-22 |
PFAM |
|
Pfam:YchF-GTPase_C
|
305 |
388 |
9e-45 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100015
AA Change: R143G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097592
Gene: ENSMUSG00000027108
AA Change: R143G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:FeoB_N
|
23 |
74 |
1.4e-8 |
PFAM |
|
Pfam:MMR_HSR1
|
24 |
231 |
5.6e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112055
AA Change: R143G
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000107686
Gene: ENSMUSG00000027108
AA Change: R143G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Pfam:FeoB_N
|
23 |
74 |
1.5e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
24 |
259 |
3.2e-18 |
PFAM |
|
low complexity region
|
261 |
272 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152608
|
| Meta Mutation Damage Score |
0.5565 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 92.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTPase protein family. The encoded protein interacts with breast cancer-associated gene 1 (BRCA1) and BRCA1-associated RING domain protein (BARD1), and is involved in centrosome regulation. Overexpression of this gene has been observed in multiple types of cancer and may be associated with poor survival. Pseudogenes of this gene have been defined on chromosomes 17 and 22. [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a null allele display partial neonatal lethality, embryonic developmental delay, delayed development of lung and liver, and reduced body size. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
C |
A |
5: 81,942,793 (GRCm39) |
H1474Q |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,075 (GRCm39) |
I1578M |
probably damaging |
Het |
| Bcl7b |
A |
G |
5: 135,209,767 (GRCm39) |
T141A |
probably benign |
Het |
| Cfap97d1 |
C |
T |
11: 101,879,278 (GRCm39) |
Q17* |
probably null |
Het |
| Chrna3 |
T |
C |
9: 54,923,178 (GRCm39) |
K210R |
probably benign |
Het |
| Cpsf2 |
T |
C |
12: 101,953,567 (GRCm39) |
I199T |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
| D1Pas1 |
C |
A |
1: 186,700,294 (GRCm39) |
S74R |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,406,306 (GRCm39) |
V1019A |
possibly damaging |
Het |
| Fbxl21 |
T |
A |
13: 56,674,830 (GRCm39) |
H60Q |
probably benign |
Het |
| Fbxw7 |
A |
C |
3: 84,833,014 (GRCm39) |
K19Q |
possibly damaging |
Het |
| Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
| Gria4 |
C |
T |
9: 4,513,295 (GRCm39) |
M271I |
probably benign |
Het |
| Herc1 |
C |
T |
9: 66,352,922 (GRCm39) |
T2136I |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
A |
T |
2: 10,110,481 (GRCm39) |
F537I |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,284,198 (GRCm39) |
D533G |
probably damaging |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Lars1 |
T |
C |
18: 42,345,667 (GRCm39) |
E1003G |
probably benign |
Het |
| Layn |
T |
A |
9: 50,970,844 (GRCm39) |
N233I |
probably damaging |
Het |
| Lgi1 |
T |
C |
19: 38,294,694 (GRCm39) |
Y465H |
probably damaging |
Het |
| Lrig1 |
C |
T |
6: 94,588,557 (GRCm39) |
A531T |
possibly damaging |
Het |
| Mrps18b |
G |
A |
17: 36,221,759 (GRCm39) |
P97S |
probably damaging |
Het |
| Mtx2 |
C |
A |
2: 74,677,606 (GRCm39) |
A22E |
probably damaging |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,709,240 (GRCm39) |
S692G |
probably benign |
Het |
| Pkd2 |
G |
A |
5: 104,637,285 (GRCm39) |
|
probably null |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Sfxn5 |
T |
C |
6: 85,276,258 (GRCm39) |
|
probably benign |
Het |
| Siah2 |
A |
G |
3: 58,583,671 (GRCm39) |
V205A |
probably damaging |
Het |
| Spindoc |
A |
C |
19: 7,351,666 (GRCm39) |
L202R |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,733 (GRCm39) |
D251E |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Trpc3 |
A |
T |
3: 36,692,708 (GRCm39) |
D761E |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Wapl |
G |
A |
14: 34,458,721 (GRCm39) |
V928I |
probably damaging |
Het |
| Zfand3 |
A |
G |
17: 30,411,630 (GRCm39) |
K130R |
probably benign |
Het |
|
| Other mutations in Ola1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00864:Ola1
|
APN |
2 |
72,987,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01969:Ola1
|
APN |
2 |
72,930,490 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02605:Ola1
|
APN |
2 |
72,972,644 (GRCm39) |
splice site |
probably benign |
|
|
IGL02987:Ola1
|
APN |
2 |
72,987,242 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03171:Ola1
|
APN |
2 |
72,987,197 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0602:Ola1
|
UTSW |
2 |
72,924,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1167:Ola1
|
UTSW |
2 |
72,927,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1474:Ola1
|
UTSW |
2 |
72,987,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1650:Ola1
|
UTSW |
2 |
72,987,238 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1781:Ola1
|
UTSW |
2 |
72,987,099 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3732:Ola1
|
UTSW |
2 |
72,987,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Ola1
|
UTSW |
2 |
72,987,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3918:Ola1
|
UTSW |
2 |
72,972,683 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4650:Ola1
|
UTSW |
2 |
72,972,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5304:Ola1
|
UTSW |
2 |
73,029,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5352:Ola1
|
UTSW |
2 |
72,929,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5918:Ola1
|
UTSW |
2 |
72,987,128 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6062:Ola1
|
UTSW |
2 |
73,029,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6858:Ola1
|
UTSW |
2 |
72,927,574 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7077:Ola1
|
UTSW |
2 |
72,972,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Ola1
|
UTSW |
2 |
72,929,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8343:Ola1
|
UTSW |
2 |
73,029,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9031:Ola1
|
UTSW |
2 |
72,924,060 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9258:Ola1
|
UTSW |
2 |
72,929,732 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9641:Ola1
|
UTSW |
2 |
73,033,784 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTGCTTACAACAGAAATAC -3'
(R):5'- GAAGTGCTATGGCCTGCTTG -3'
Sequencing Primer
(F):5'- GTGCTTATTTTTAAACTGAGAACAGC -3'
(R):5'- CTATGGCCTGCTTGAGAAGAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation