Incidental Mutation 'R7077:Ola1'
ID 549259
Institutional Source Beutler Lab
Gene Symbol Ola1
Ensembl Gene ENSMUSG00000027108
Gene Name Obg-like ATPase 1
Synonyms Gtpbp9, 2510025G09Rik, 2810405J23Rik, 2810409H07Rik
MMRRC Submission 045172-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.723) question?
Stock # R7077 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 72923145-73044791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72972308 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9CZ30
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: 81,605,893 (GRCm39) C623Y probably damaging Het
Ago3 T C 4: 126,265,325 (GRCm39) K322R probably null Het
Ankrd17 T C 5: 90,433,723 (GRCm39) H682R possibly damaging Het
Aoah A G 13: 21,094,276 (GRCm39) D187G probably damaging Het
Arhgap17 T C 7: 122,879,231 (GRCm39) D840G unknown Het
AW551984 C T 9: 39,502,723 (GRCm39) V650I probably benign Het
Bok T A 1: 93,616,911 (GRCm39) Y86N probably damaging Het
Ccdc146 T A 5: 21,510,272 (GRCm39) N580I possibly damaging Het
Ccng2 T C 5: 93,417,199 (GRCm39) S72P possibly damaging Het
Cfap74 T G 4: 155,540,134 (GRCm39) I977S unknown Het
Cobl T C 11: 12,203,441 (GRCm39) N1087S probably benign Het
Cyp21a1 C A 17: 35,021,333 (GRCm39) R346L probably damaging Het
Eif4a1 A C 11: 69,561,490 (GRCm39) F52L probably damaging Het
Eif4ebp2 A C 10: 61,269,580 (GRCm39) I120S probably damaging Het
Enpp2 A C 15: 54,764,787 (GRCm39) D146E probably benign Het
Exosc9 T C 3: 36,607,205 (GRCm39) Y30H probably damaging Het
Fam117a G A 11: 95,268,498 (GRCm39) G300S probably benign Het
Focad C A 4: 88,328,914 (GRCm39) A1709E unknown Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Fsip2 T C 2: 82,813,496 (GRCm39) F3272L probably benign Het
Gcnt2 G A 13: 41,013,896 (GRCm39) M22I probably benign Het
Gjd4 T C 18: 9,280,928 (GRCm39) E50G probably damaging Het
Gm10375 G T 14: 43,840,427 (GRCm39) T162K probably benign Het
Gm10837 C G 14: 122,728,142 (GRCm39) A6G unknown Het
Gm4924 T C 10: 82,215,057 (GRCm39) F952L unknown Het
Heatr1 T C 13: 12,433,045 (GRCm39) F1132L possibly damaging Het
Hnrnpu A G 1: 178,159,756 (GRCm39) Y442H unknown Het
Hp1bp3 C A 4: 137,966,929 (GRCm39) T408N probably damaging Het
Htra3 A G 5: 35,825,660 (GRCm39) V198A probably damaging Het
Katnal1 T C 5: 148,828,547 (GRCm39) T300A probably benign Het
Lipo5 G T 19: 33,445,170 (GRCm39) P133Q Het
Lrp1b A T 2: 41,660,858 (GRCm39) H197Q Het
Mdc1 C A 17: 36,156,839 (GRCm39) A82D probably damaging Het
Mstn A T 1: 53,103,408 (GRCm39) D248V probably benign Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Or52z1 A G 7: 103,436,593 (GRCm39) I297T probably damaging Het
Or5t7 T C 2: 86,507,236 (GRCm39) Y147C possibly damaging Het
Or7e166 T A 9: 19,624,428 (GRCm39) S102T probably benign Het
Or8c20 T A 9: 38,261,266 (GRCm39) Y290N probably damaging Het
Phldb1 T C 9: 44,623,201 (GRCm39) T618A possibly damaging Het
Pkd1 T G 17: 24,810,093 (GRCm39) W3565G probably damaging Het
Prl3a1 A T 13: 27,460,086 (GRCm39) N190I probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Ptpn11 C T 5: 121,281,633 (GRCm39) R484Q probably benign Het
Rapgef4 T C 2: 72,071,820 (GRCm39) M900T probably damaging Het
Slc1a2 A T 2: 102,607,855 (GRCm39) D501V probably benign Het
Smarcd3 G T 5: 24,799,960 (GRCm39) A270D probably damaging Het
Srgap2 A G 1: 131,272,187 (GRCm39) M33T Het
Tle1 G C 4: 72,076,612 (GRCm39) P139A probably benign Het
Tmem161b C A 13: 84,370,537 (GRCm39) probably benign Het
Tsbp1 C A 17: 34,659,856 (GRCm39) T93N possibly damaging Het
Zfp658 T A 7: 43,223,413 (GRCm39) S563T probably benign Het
Zswim9 G A 7: 12,993,679 (GRCm39) R826C probably damaging Het
Other mutations in Ola1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGAGGCTACAAGATCTCAGTTTC -3'
(R):5'- CAGCCGGTGTAAATTCCTAAGC -3'

Sequencing Primer
(F):5'- GGCTACAAGATCTCAGTTTCAAACAC -3'
(R):5'- TCCCTTTTCCAATCTCCCAC -3'
Posted On 2019-05-15