Incidental Mutation 'R8250:Oip5'
ID 640270
Institutional Source Beutler Lab
Gene Symbol Oip5
Ensembl Gene ENSMUSG00000072980
Gene Name Opa interacting protein 5
Synonyms Lint-25, 5730547N13Rik
MMRRC Submission 067676-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R8250 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 119439993-119448950 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119446110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 133 (S133P)
Ref Sequence ENSEMBL: ENSMUSP00000115219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028771] [ENSMUST00000068225] [ENSMUST00000123818]
AlphaFold A2AQ14
Predicted Effect probably benign
Transcript: ENSMUST00000028771
SMART Domains Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 119 129 N/A INTRINSIC
coiled coil region 360 392 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000068225
SMART Domains Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 119 129 N/A INTRINSIC
Pfam:NUSAP 167 261 6e-27 PFAM
Pfam:NUSAP 256 421 2.3e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123818
AA Change: S133P

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115219
Gene: ENSMUSG00000072980
AA Change: S133P

DomainStartEndE-ValueType
Pfam:Yippee-Mis18 70 167 5.6e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to centromeres, where it is essential for recruitment of CENP-A through the mediator Holliday junction recognition protein. Expression of this gene is upregulated in several cancers, making it a putative therapeutic target. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,260,846 (GRCm39) E1027V probably damaging Het
Agbl2 G A 2: 90,627,908 (GRCm39) G238R probably damaging Het
Bltp1 T C 3: 36,971,811 (GRCm39) S515P probably damaging Het
Ccdc27 A T 4: 154,126,245 (GRCm39) D81E unknown Het
Csrnp3 A G 2: 65,852,562 (GRCm39) E330G probably damaging Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Fat1 A G 8: 45,406,336 (GRCm39) N1029S probably damaging Het
Ftcd T G 10: 76,417,461 (GRCm39) I300R probably damaging Het
Fxr1 T A 3: 34,101,178 (GRCm39) Y161* probably null Het
Gabrg2 C T 11: 41,858,379 (GRCm39) V250I probably benign Het
Gmcl1 T C 6: 86,698,384 (GRCm39) D171G possibly damaging Het
Grk2 A G 19: 4,339,962 (GRCm39) F375S probably damaging Het
Kat2b T A 17: 53,970,564 (GRCm39) I650N probably damaging Het
Lhfpl6 T C 3: 52,950,759 (GRCm39) I11T probably benign Het
Mbtd1 A G 11: 93,801,176 (GRCm39) Y141C probably damaging Het
Mon1b A T 8: 114,366,351 (GRCm39) E449V probably damaging Het
Mrpl47 T C 3: 32,785,382 (GRCm39) N112S probably damaging Het
Myo9a T A 9: 59,767,392 (GRCm39) H865Q probably damaging Het
Notch3 T C 17: 32,351,310 (GRCm39) N1895S probably damaging Het
Nuggc A G 14: 65,879,318 (GRCm39) I693V probably benign Het
Opcml A G 9: 28,586,566 (GRCm39) I95V probably damaging Het
Or10v1 A T 19: 11,873,741 (GRCm39) M119L probably damaging Het
Or52l1 T C 7: 104,830,518 (GRCm39) M16V Het
Or8k20 T C 2: 86,106,498 (GRCm39) E111G probably damaging Het
P2rx3 A C 2: 84,852,735 (GRCm39) V221G probably damaging Het
Prr27 A G 5: 87,990,556 (GRCm39) N56S possibly damaging Het
Psmd11 T C 11: 80,336,752 (GRCm39) S135P possibly damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sall3 T C 18: 81,016,743 (GRCm39) D395G probably benign Het
Scube2 T C 7: 109,463,377 (GRCm39) N62S probably benign Het
Sema6a A T 18: 47,423,182 (GRCm39) S275T probably damaging Het
Sirpb1a A T 3: 15,444,104 (GRCm39) L382Q possibly damaging Het
Snrpn T A 7: 59,636,633 (GRCm39) probably null Het
Sox5 A T 6: 144,100,777 (GRCm39) S71T possibly damaging Het
Synpo2l G T 14: 20,712,344 (GRCm39) T321K probably benign Het
Tex15 G A 8: 34,055,233 (GRCm39) E285K probably null Het
Tmem126b G A 7: 90,118,317 (GRCm39) L188F probably damaging Het
Ttll2 T C 17: 7,618,767 (GRCm39) T387A probably benign Het
Ttn A G 2: 76,667,155 (GRCm39) Y11484H unknown Het
Vmn2r76 T A 7: 85,875,231 (GRCm39) Y582F possibly damaging Het
Zfp786 A T 6: 47,797,729 (GRCm39) L403Q possibly damaging Het
Other mutations in Oip5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Oip5 APN 2 119,442,314 (GRCm39) missense possibly damaging 0.86
R0086:Oip5 UTSW 2 119,448,410 (GRCm39) splice site probably benign
R1855:Oip5 UTSW 2 119,442,271 (GRCm39) missense probably benign 0.05
R4722:Oip5 UTSW 2 119,443,492 (GRCm39) critical splice donor site probably null
R4960:Oip5 UTSW 2 119,448,342 (GRCm39) small deletion probably benign
R5546:Oip5 UTSW 2 119,440,808 (GRCm39) missense unknown
R5560:Oip5 UTSW 2 119,443,540 (GRCm39) missense probably damaging 1.00
R6246:Oip5 UTSW 2 119,446,101 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGTAGTGCCTAGCCTTTTGCATC -3'
(R):5'- TGAGAGCCAGTGAACTTGATG -3'

Sequencing Primer
(F):5'- CTTCTTTGGTTATAAACACCTGGAC -3'
(R):5'- GCCAGTGAACTTGATGAAGTCTATCC -3'
Posted On 2020-07-28