Incidental Mutation 'R1650:Ola1'
ID 174154
Institutional Source Beutler Lab
Gene Symbol Ola1
Ensembl Gene ENSMUSG00000027108
Gene Name Obg-like ATPase 1
Synonyms Gtpbp9, 2510025G09Rik, 2810405J23Rik, 2810409H07Rik
MMRRC Submission 039686-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.723) question?
Stock # R1650 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 72923145-73044791 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 72987238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 131 (D131E)
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: D131E

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028517
Gene: ENSMUSG00000027108
AA Change: D131E

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: D131E

PolyPhen 2 Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097592
Gene: ENSMUSG00000027108
AA Change: D131E

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 possibly damaging
Transcript: ENSMUST00000112055
AA Change: D131E

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107686
Gene: ENSMUSG00000027108
AA Change: D131E

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
Meta Mutation Damage Score 0.0770 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.0%
  • 20x: 83.4%
Validation Efficiency 99% (86/87)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T G 2: 103,532,747 (GRCm39) V515G probably damaging Het
Ark2c A C 18: 77,550,113 (GRCm39) probably null Het
Arl5a A T 2: 52,302,117 (GRCm39) I99N probably damaging Het
Atp8b1 A G 18: 64,704,620 (GRCm39) probably benign Het
Bag4 T A 8: 26,267,452 (GRCm39) Q126L probably damaging Het
Ccser1 A G 6: 61,615,474 (GRCm39) T659A probably benign Het
Cenpn A G 8: 117,661,498 (GRCm39) D199G probably damaging Het
Cfhr3 A G 1: 139,521,564 (GRCm39) noncoding transcript Het
Clca3a2 T A 3: 144,797,973 (GRCm39) H164L probably damaging Het
Col5a1 C A 2: 27,812,171 (GRCm39) S84R unknown Het
Ctsc T A 7: 87,930,634 (GRCm39) L71* probably null Het
Cyp2c70 A G 19: 40,153,921 (GRCm39) Y223H probably benign Het
Dbt A G 3: 116,328,381 (GRCm39) probably null Het
Dlg2 T C 7: 92,080,259 (GRCm39) V614A probably damaging Het
Dll4 T C 2: 119,161,611 (GRCm39) S398P probably damaging Het
Dyrk4 T C 6: 126,876,792 (GRCm39) K62E probably benign Het
Fgf22 A T 10: 79,591,023 (GRCm39) Y24F probably damaging Het
Ggt5 A G 10: 75,440,595 (GRCm39) R239G probably benign Het
Gm11360 C T 13: 28,140,379 (GRCm39) A81V unknown Het
Htr5b T A 1: 121,455,891 (GRCm39) T10S probably benign Het
Igsf10 T C 3: 59,233,583 (GRCm39) R1717G probably damaging Het
Itsn2 T A 12: 4,687,767 (GRCm39) V556D probably damaging Het
Kdm3b T C 18: 34,942,168 (GRCm39) V553A possibly damaging Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lca5l T C 16: 95,980,140 (GRCm39) probably null Het
Lmbrd1 T C 1: 24,750,639 (GRCm39) W171R probably damaging Het
Lrp6 T C 6: 134,445,732 (GRCm39) Y1027C probably benign Het
Macf1 A T 4: 123,350,393 (GRCm39) Y1702* probably null Het
Mon2 T C 10: 122,831,682 (GRCm39) I1675V probably benign Het
Mtcl1 T A 17: 66,692,871 (GRCm39) K486M probably damaging Het
Nek1 A T 8: 61,489,110 (GRCm39) H338L probably benign Het
Olr1 T A 6: 129,484,052 (GRCm39) M7L probably benign Het
Or1f12 T C 13: 21,721,249 (GRCm39) N294D probably damaging Het
Or4k36 C T 2: 111,146,640 (GRCm39) A272V probably benign Het
Or5t18 A T 2: 86,637,091 (GRCm39) M84K possibly damaging Het
Or5w10 C A 2: 87,375,772 (GRCm39) V39L probably benign Het
Or7g27 T G 9: 19,249,943 (GRCm39) F62L possibly damaging Het
Or9m2 C T 2: 87,821,145 (GRCm39) A230V probably benign Het
Pan2 G A 10: 128,153,768 (GRCm39) E980K probably damaging Het
Pgm1 A G 4: 99,819,267 (GRCm39) K146E possibly damaging Het
Pgm1 C A 4: 99,819,276 (GRCm39) Q149K probably benign Het
Phlpp2 T C 8: 110,660,587 (GRCm39) probably benign Het
Plekhs1 G T 19: 56,459,474 (GRCm39) G75C probably damaging Het
Plin4 G A 17: 56,411,931 (GRCm39) T700I probably damaging Het
Podxl2 G A 6: 88,826,901 (GRCm39) P71L probably benign Het
Pot1a A T 6: 25,745,964 (GRCm39) V579D probably damaging Het
Poteg A G 8: 27,953,813 (GRCm39) D318G probably benign Het
Ppp4r3a A T 12: 101,010,878 (GRCm39) D554E probably damaging Het
Proser3 G A 7: 30,239,751 (GRCm39) A451V probably damaging Het
Shld2 T A 14: 33,981,574 (GRCm39) probably benign Het
Strc T C 2: 121,211,366 (GRCm39) probably benign Het
Syce1 C A 7: 140,358,300 (GRCm39) C216F possibly damaging Het
Syne2 A T 12: 75,951,033 (GRCm39) K395* probably null Het
Trim28 G A 7: 12,764,776 (GRCm39) G831D possibly damaging Het
Tyw1 A G 5: 130,317,752 (GRCm39) I434V possibly damaging Het
Ubox5 G A 2: 130,442,345 (GRCm39) A114V probably benign Het
Ubqln3 C T 7: 103,790,228 (GRCm39) V621I possibly damaging Het
Unc79 A G 12: 103,079,052 (GRCm39) D1543G possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Wrnip1 C A 13: 32,989,362 (GRCm39) H283Q probably benign Het
Zan A T 5: 137,392,863 (GRCm39) probably benign Het
Zcchc10 A T 11: 53,218,229 (GRCm39) K1* probably null Het
Zfp592 T A 7: 80,687,848 (GRCm39) S925T probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ACACCAAGGAAACTGGCAGTGC -3'
(R):5'- TGGCCTGCTTGAGAAGAGTTAAGAAC -3'

Sequencing Primer
(F):5'- TACCCCTAAGGTAGGCAGC -3'
(R):5'- AACTCGGTAGCAGTTTGCG -3'
Posted On 2014-04-24