Incidental Mutation 'IGL00864:Ola1'
ID 12838
Institutional Source Australian Phenomics Network (link to record)
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: 0.723) question?
Stock # IGL00864
Quality Score
Status
Chromosome 2
Chromosomal Location 72923145-73044791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72987241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 130 (D130E)
Ref Sequence ENSEMBL: ENSMUSP00000107686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028517] [ENSMUST00000100015] [ENSMUST00000112055]
AlphaFold Q9CZ30
Predicted Effect probably benign
Transcript: ENSMUST00000028517
AA Change: D130E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: D130E

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000100015
AA Change: D130E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000097592
Gene: ENSMUSG00000027108
AA Change: D130E

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000112055
AA Change: D130E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107686
Gene: ENSMUSG00000027108
AA Change: D130E

DomainStartEndE-ValueType
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
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 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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,092,895 (GRCm39) D142G probably damaging Het
Ap2b1 A C 11: 83,223,984 (GRCm39) D195A probably damaging Het
Asxl3 T A 18: 22,655,503 (GRCm39) I1171K probably benign Het
Atm T C 9: 53,445,233 (GRCm39) S2G probably damaging Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Ephx1 A G 1: 180,818,016 (GRCm39) S356P probably damaging Het
H1f8 A G 6: 115,925,587 (GRCm39) K128R probably damaging Het
Il12rb2 A G 6: 67,313,738 (GRCm39) I6T probably benign Het
Itm2b T C 14: 73,600,575 (GRCm39) K242E probably damaging Het
Kcnq5 T A 1: 21,575,987 (GRCm39) Q239L probably damaging Het
Lmbrd2 T C 15: 9,175,297 (GRCm39) S403P probably damaging Het
Opcml G A 9: 28,812,886 (GRCm39) E193K probably damaging Het
Opcml A C 9: 28,812,887 (GRCm39) E193A probably damaging Het
Rab44 T C 17: 29,358,711 (GRCm39) S300P probably benign Het
Sergef C A 7: 46,165,087 (GRCm39) probably null Het
Slc6a2 T C 8: 93,722,622 (GRCm39) F540L probably benign Het
Spag6l A G 16: 16,598,597 (GRCm39) V298A probably benign Het
Svep1 G T 4: 58,068,533 (GRCm39) Y3084* probably null Het
Tbc1d4 T A 14: 101,682,002 (GRCm39) D1235V probably benign Het
Tlr9 T C 9: 106,102,206 (GRCm39) L499P probably damaging Het
Ttn G A 2: 76,544,178 (GRCm39) S24609F probably damaging Het
Other mutations in Ola1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3733: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
Posted On 2012-12-06