Incidental Mutation 'R7077:Ola1'
ID549259
Institutional Source Beutler Lab
Gene Symbol Ola1
Ensembl Gene ENSMUSG00000027108
Gene NameObg-like ATPase 1
Synonyms2510025G09Rik, 2810409H07Rik, 2810405J23Rik, Gtpbp9
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.492) question?
Stock #R7077 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location73092801-73218924 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 73141964 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 221 (T221I)
Ref Sequence ENSEMBL: ENSMUSP00000028517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028517] [ENSMUST00000100015] [ENSMUST00000112055]
Predicted Effect probably damaging
Transcript: ENSMUST00000028517
AA Change: T221I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: T221I

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 damaging
Transcript: ENSMUST00000100015
AA Change: T221I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097592
Gene: ENSMUSG00000027108
AA Change: T221I

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 damaging
Transcript: ENSMUST00000112055
AA Change: T221I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107686
Gene: ENSMUSG00000027108
AA Change: T221I

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
Meta Mutation Damage Score 0.7105 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (54/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C T 12: 81,559,119 C623Y probably damaging Het
Ago3 T C 4: 126,371,532 K322R probably null Het
Ankrd17 T C 5: 90,285,864 H682R possibly damaging Het
Aoah A G 13: 20,910,106 D187G probably damaging Het
Arhgap17 T C 7: 123,280,008 D840G unknown Het
AW551984 C T 9: 39,591,427 V650I probably benign Het
BC051142 C A 17: 34,440,882 T93N possibly damaging Het
Bok T A 1: 93,689,189 Y86N probably damaging Het
Ccdc146 T A 5: 21,305,274 N580I possibly damaging Het
Ccng2 T C 5: 93,269,340 S72P possibly damaging Het
Cfap74 T G 4: 155,455,677 I977S unknown Het
Cobl T C 11: 12,253,441 N1087S probably benign Het
Cyp21a1 C A 17: 34,802,359 R346L probably damaging Het
Eif4a1 A C 11: 69,670,664 F52L probably damaging Het
Eif4ebp2 A C 10: 61,433,801 I120S probably damaging Het
Enpp2 A C 15: 54,901,391 D146E probably benign Het
Exosc9 T C 3: 36,553,056 Y30H probably damaging Het
Fam117a G A 11: 95,377,672 G300S probably benign Het
Focad C A 4: 88,410,677 A1709E unknown Het
Fsd1 G A 17: 55,993,876 R245H probably damaging Het
Fsip2 T C 2: 82,983,152 F3272L probably benign Het
Gcnt2 G A 13: 40,860,420 M22I probably benign Het
Gjd4 T C 18: 9,280,928 E50G probably damaging Het
Gm10375 G T 14: 43,602,970 T162K probably benign Het
Gm10837 C G 14: 122,490,730 A6G unknown Het
Gm4924 T C 10: 82,379,223 F952L unknown Het
Heatr1 T C 13: 12,418,164 F1132L possibly damaging Het
Hnrnpu A G 1: 178,332,191 Y442H unknown Het
Hp1bp3 C A 4: 138,239,618 T408N probably damaging Het
Htra3 A G 5: 35,668,316 V198A probably damaging Het
Katnal1 T C 5: 148,891,737 T300A probably benign Het
Lipo5 G T 19: 33,467,770 P133Q Het
Lrp1b A T 2: 41,770,846 H197Q Het
Mdc1 C A 17: 35,845,947 A82D probably damaging Het
Mstn A T 1: 53,064,249 D248V probably benign Het
Myo1d C T 11: 80,674,634 E426K probably damaging Het
Olfr1086 T C 2: 86,676,892 Y147C possibly damaging Het
Olfr67 A G 7: 103,787,386 I297T probably damaging Het
Olfr857 T A 9: 19,713,132 S102T probably benign Het
Olfr898 T A 9: 38,349,970 Y290N probably damaging Het
Phldb1 T C 9: 44,711,904 T618A possibly damaging Het
Pkd1 T G 17: 24,591,119 W3565G probably damaging Het
Prl3a1 A T 13: 27,276,103 N190I probably benign Het
Ptk2 G A 15: 73,221,809 P854S possibly damaging Het
Ptpn11 C T 5: 121,143,570 R484Q probably benign Het
Rapgef4 T C 2: 72,241,476 M900T probably damaging Het
Slc1a2 A T 2: 102,777,510 D501V probably benign Het
Smarcd3 G T 5: 24,594,962 A270D probably damaging Het
Srgap2 A G 1: 131,344,449 M33T Het
Tle1 G C 4: 72,158,375 P139A probably benign Het
Tmem161b C A 13: 84,222,418 probably benign Het
Zfp658 T A 7: 43,573,989 S563T probably benign Het
Zswim9 G A 7: 13,259,752 R826C probably damaging Het
Other mutations in Ola1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00864:Ola1 APN 2 73156897 missense probably benign 0.00
IGL01969:Ola1 APN 2 73100146 missense probably benign 0.01
IGL02605:Ola1 APN 2 73142300 splice site probably benign
IGL02987:Ola1 APN 2 73156898 missense probably benign 0.03
IGL03171:Ola1 APN 2 73156853 missense probably benign 0.24
R0602:Ola1 UTSW 2 73093712 missense probably damaging 1.00
R1167:Ola1 UTSW 2 73097194 missense probably damaging 0.99
R1474:Ola1 UTSW 2 73156844 missense probably damaging 1.00
R1650:Ola1 UTSW 2 73156894 missense possibly damaging 0.65
R1781:Ola1 UTSW 2 73156755 missense possibly damaging 0.92
R3732:Ola1 UTSW 2 73156860 missense probably damaging 1.00
R3732:Ola1 UTSW 2 73156860 missense probably damaging 1.00
R3733:Ola1 UTSW 2 73156860 missense probably damaging 1.00
R3918:Ola1 UTSW 2 73142339 missense probably benign 0.33
R4650:Ola1 UTSW 2 73141965 missense probably damaging 1.00
R5304:Ola1 UTSW 2 73199434 missense probably damaging 0.99
R5352:Ola1 UTSW 2 73099330 missense probably damaging 0.99
R5918:Ola1 UTSW 2 73156784 missense probably benign 0.18
R6062:Ola1 UTSW 2 73199498 missense probably damaging 1.00
R6858:Ola1 UTSW 2 73097230 missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGAGGCTACAAGATCTCAGTTTC -3'
(R):5'- CAGCCGGTGTAAATTCCTAAGC -3'

Sequencing Primer
(F):5'- GGCTACAAGATCTCAGTTTCAAACAC -3'
(R):5'- TCCCTTTTCCAATCTCCCAC -3'
Posted On2019-05-15