Incidental Mutation 'R4650:Ola1'
ID 351201
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: 0.723) question?
Stock # R4650 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 72923145-73044791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72972309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 221 (T221A)
Ref Sequence ENSEMBL: ENSMUSP00000107686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028517] [ENSMUST00000100015] [ENSMUST00000112055]
AlphaFold Q9CZ30
Predicted Effect probably damaging
Transcript: ENSMUST00000028517
AA Change: T221A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: T221A

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: T221A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097592
Gene: ENSMUSG00000027108
AA Change: T221A

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: T221A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107686
Gene: ENSMUSG00000027108
AA Change: T221A

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110025L11Rik T A 16: 88,860,603 (GRCm39) Y77F unknown Het
4933409G03Rik G A 2: 68,436,559 (GRCm39) E168K unknown Het
Aldoa A G 7: 126,396,879 (GRCm39) S71P possibly damaging Het
Arhgef12 A G 9: 42,893,266 (GRCm39) V979A probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Brd8 T C 18: 34,739,752 (GRCm39) T674A probably benign Het
Cacna1d C T 14: 29,817,365 (GRCm39) M1232I probably benign Het
Capza1 A G 3: 104,752,296 (GRCm39) V14A probably damaging Het
Cdk2 A T 10: 128,538,364 (GRCm39) I135N probably damaging Het
Celf4 A T 18: 25,629,302 (GRCm39) M407K possibly damaging Het
Cenpf A T 1: 189,392,235 (GRCm39) D532E probably benign Het
Cideb A G 14: 55,992,688 (GRCm39) V76A possibly damaging Het
Dbpht2 C G 12: 74,345,933 (GRCm39) noncoding transcript Het
Dis3l2 A G 1: 86,918,043 (GRCm39) D550G possibly damaging Het
Dnah1 A T 14: 31,006,844 (GRCm39) probably null Het
Edc4 T A 8: 106,619,307 (GRCm39) L1293* probably null Het
Elp5 A G 11: 69,860,398 (GRCm39) V203A possibly damaging Het
Fndc7 T C 3: 108,770,135 (GRCm39) N597S probably benign Het
Gjb3 T C 4: 127,220,484 (GRCm39) Y16C probably damaging Het
Gm5773 A G 3: 93,680,712 (GRCm39) D128G probably benign Het
Gnb1l T C 16: 18,363,025 (GRCm39) probably null Het
Gon4l G A 3: 88,770,859 (GRCm39) D514N possibly damaging Het
Grhl3 T A 4: 135,276,547 (GRCm39) probably null Het
Hoxc10 T C 15: 102,875,698 (GRCm39) S136P probably benign Het
Ift22 G A 5: 136,940,655 (GRCm39) V107I probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lamc1 T G 1: 153,104,523 (GRCm39) S59R probably damaging Het
Lgi4 G A 7: 30,768,554 (GRCm39) A518T probably benign Het
Lhx2 T A 2: 38,250,052 (GRCm39) N290K probably damaging Het
Ltbp4 A T 7: 27,013,734 (GRCm39) C1092S probably damaging Het
Macf1 T C 4: 123,367,412 (GRCm39) I2450V probably benign Het
Mefv A G 16: 3,535,682 (GRCm39) L82P probably damaging Het
Myb A G 10: 21,028,840 (GRCm39) L86P probably damaging Het
Myh3 C T 11: 66,977,270 (GRCm39) T333M probably damaging Het
Nek11 T C 9: 105,225,279 (GRCm39) N78D possibly damaging Het
Nmi C A 2: 51,838,646 (GRCm39) C296F probably benign Het
Nphs1 A T 7: 30,181,895 (GRCm39) T1163S probably benign Het
Npy4r C T 14: 33,868,181 (GRCm39) G369D possibly damaging Het
Or51d1 A G 7: 102,348,027 (GRCm39) D194G probably damaging Het
Or8c11 T C 9: 38,289,699 (GRCm39) F168S probably damaging Het
Pfkfb2 A T 1: 130,633,200 (GRCm39) N184K possibly damaging Het
Plce1 T C 19: 38,513,088 (GRCm39) V129A probably benign Het
Prps2 T C X: 166,135,288 (GRCm39) D183G probably damaging Het
Pth A T 7: 112,985,026 (GRCm39) *116K probably null Het
R3hdm1 T C 1: 128,112,181 (GRCm39) S422P probably damaging Het
Rhox2a G C X: 36,508,962 (GRCm39) R43P probably benign Het
Rwdd3 A G 3: 120,952,826 (GRCm39) F55S probably damaging Het
Serpinb9d A T 13: 33,386,836 (GRCm39) L301F probably benign Het
Slc35e4 A G 11: 3,862,677 (GRCm39) C171R probably damaging Het
Slco1a4 A T 6: 141,758,424 (GRCm39) I529K possibly damaging Het
Styk1 A T 6: 131,277,532 (GRCm39) W370R probably damaging Het
Tmprss11e C A 5: 86,875,212 (GRCm39) W18L probably damaging Het
Trpv1 A C 11: 73,129,089 (GRCm39) E2A probably benign Het
Unc13b T A 4: 43,261,035 (GRCm39) I1799N probably damaging Het
Vmn1r213 G A 13: 23,196,422 (GRCm39) C335Y possibly damaging Het
Vps37c C T 19: 10,690,273 (GRCm39) S245L probably benign Het
Wrn T C 8: 33,745,537 (GRCm39) T1191A probably benign Het
Zfp13 A G 17: 23,799,112 (GRCm39) L153P probably damaging Het
Zfp472 T G 17: 33,196,631 (GRCm39) S235R possibly 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
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'- GCTACAAGATCTCAGTTTCAAACAC -3'
(R):5'- TGTCAGCCGGTGTAAATTCC -3'

Sequencing Primer
(F):5'- CAGTTTCAAACACTTTATTGCACC -3'
(R):5'- GTCAGCCGGTGTAAATTCCTAAGC -3'
Posted On 2015-10-08