Incidental Mutation 'IGL01980:Ankrd60'
ID182716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankrd60
Ensembl Gene ENSMUSG00000027517
Gene Nameankyrin repeat domain 60
Synonyms1700019A24Rik, 1700030G11Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01980
Quality Score
Status
Chromosome2
Chromosomal Location173568666-173578365 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 173571203 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 164 (C164Y)
Ref Sequence ENSEMBL: ENSMUSP00000113291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109112] [ENSMUST00000119453]
Predicted Effect probably benign
Transcript: ENSMUST00000109112
AA Change: C44Y

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104740
Gene: ENSMUSG00000027517
AA Change: C44Y

DomainStartEndE-ValueType
ANK 73 102 2.83e0 SMART
ANK 106 135 2.13e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119453
AA Change: C164Y

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000113291
Gene: ENSMUSG00000027517
AA Change: C164Y

DomainStartEndE-ValueType
low complexity region 1 21 N/A INTRINSIC
Blast:UBQ 70 142 5e-39 BLAST
ANK 193 222 2.83e0 SMART
ANK 226 255 2.13e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147693
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a2 C T 4: 141,006,152 A979V probably benign Het
Col5a2 C T 1: 45,382,233 probably benign Het
Col6a6 T C 9: 105,780,985 N676S probably damaging Het
Cpa1 T C 6: 30,641,582 F192L possibly damaging Het
Entpd6 T A 2: 150,762,366 probably null Het
Fam185a A G 5: 21,459,173 K302E probably damaging Het
Il12rb2 T C 6: 67,360,535 K121E probably benign Het
Impg2 G A 16: 56,221,527 C178Y probably damaging Het
Kdm3b G T 18: 34,834,236 C1698F probably damaging Het
Llgl2 A G 11: 115,850,025 D451G probably damaging Het
Mgat4b T A 11: 50,230,713 L52Q probably damaging Het
Mmp9 C A 2: 164,950,916 S363R probably benign Het
Mtfmt A G 9: 65,437,074 Y94C probably benign Het
Myo7b G A 18: 31,961,900 L1881F possibly damaging Het
Olfr642 A T 7: 104,050,093 M87K probably benign Het
Olfr782 G T 10: 129,351,517 probably benign Het
Pex5 T C 6: 124,398,380 N524S probably damaging Het
Plppr1 A T 4: 49,319,992 Y206F possibly damaging Het
Polr3e A G 7: 120,940,296 probably benign Het
Rhbdd1 A G 1: 82,340,834 probably benign Het
Rims4 A T 2: 163,865,782 probably benign Het
Smarcal1 A T 1: 72,616,520 K653* probably null Het
Stt3b C T 9: 115,276,699 probably null Het
Syt8 C A 7: 142,440,140 L343M probably damaging Het
Tbc1d23 G A 16: 57,189,252 probably benign Het
Tfec T C 6: 16,845,466 I65V probably damaging Het
Tmem236 A T 2: 14,218,905 Q168H probably benign Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Tnip2 A G 5: 34,496,868 V288A probably benign Het
Ttc1 G A 11: 43,730,464 probably benign Het
Tubb4b-ps1 A C 5: 7,179,843 probably benign Het
Tut1 T C 19: 8,954,000 C21R probably damaging Het
Ubr4 C A 4: 139,429,602 Q2313K probably damaging Het
Unc5b T C 10: 60,780,187 E119G probably damaging Het
Vmn1r23 T A 6: 57,926,490 Q101L probably damaging Het
Vmn2r77 A G 7: 86,801,470 D188G probably benign Het
Vmn2r79 A G 7: 87,037,082 E557G possibly damaging Het
Zfp738 A G 13: 67,669,977 F632L possibly damaging Het
Other mutations in Ankrd60
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0060:Ankrd60 UTSW 2 173572613 start codon destroyed probably null 1.00
R0060:Ankrd60 UTSW 2 173572613 start codon destroyed probably null 1.00
R0569:Ankrd60 UTSW 2 173571066 missense probably damaging 1.00
R0587:Ankrd60 UTSW 2 173568851 missense possibly damaging 0.83
R2941:Ankrd60 UTSW 2 173568881 missense probably damaging 1.00
R4549:Ankrd60 UTSW 2 173572602 missense possibly damaging 0.89
R5322:Ankrd60 UTSW 2 173568817 missense possibly damaging 0.76
R5763:Ankrd60 UTSW 2 173578089 frame shift probably null
R5786:Ankrd60 UTSW 2 173578089 frame shift probably null
R5787:Ankrd60 UTSW 2 173578089 frame shift probably null
R5788:Ankrd60 UTSW 2 173578089 frame shift probably null
Posted On2014-05-07