Incidental Mutation 'R0060:Ankrd60'
ID 64390
Institutional Source Beutler Lab
Gene Symbol Ankrd60
Ensembl Gene ENSMUSG00000027517
Gene Name ankyrin repeat domain 60
Synonyms 1700030G11Rik, 1700019A24Rik
MMRRC Submission 038353-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0060 (G1)
Quality Score 90
Status Validated
Chromosome 2
Chromosomal Location 173410451-173420066 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 173414406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000104740 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109112] [ENSMUST00000119453]
AlphaFold A2AMD2
Predicted Effect probably null
Transcript: ENSMUST00000109112
AA Change: M1K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104740
Gene: ENSMUSG00000027517
AA Change: M1K

DomainStartEndE-ValueType
ANK 73 102 2.83e0 SMART
ANK 106 135 2.13e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000119453
AA Change: M121K

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113291
Gene: ENSMUSG00000027517
AA Change: M121K

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
Meta Mutation Damage Score 0.8771 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A C 11: 58,313,008 (GRCm39) probably benign Het
A630091E08Rik A G 7: 98,192,875 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,961,306 (GRCm39) T539A probably damaging Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Cabcoco1 A T 10: 68,369,692 (GRCm39) probably null Het
Capn7 T C 14: 31,087,561 (GRCm39) probably benign Het
Cd109 G A 9: 78,610,389 (GRCm39) E1145K probably damaging Het
Celsr1 A T 15: 85,806,399 (GRCm39) V2353D probably damaging Het
Cep350 C T 1: 155,804,372 (GRCm39) D904N probably damaging Het
Chl1 T A 6: 103,688,019 (GRCm39) probably benign Het
Colec10 G A 15: 54,302,542 (GRCm39) probably benign Het
Cst11 T A 2: 148,612,322 (GRCm39) Q105L probably damaging Het
Eps8l3 T C 3: 107,786,857 (GRCm39) L11S probably damaging Het
Gsdme A G 6: 50,198,009 (GRCm39) I317T possibly damaging Het
Itgad T C 7: 127,802,158 (GRCm39) S979P probably damaging Het
Mga T C 2: 119,791,442 (GRCm39) probably null Het
Nubpl T C 12: 52,357,470 (GRCm39) probably benign Het
Or2b4 T C 17: 38,116,891 (GRCm39) L285P probably damaging Het
Or5be3 T C 2: 86,864,118 (GRCm39) Y149C probably damaging Het
Pard3b G A 1: 61,678,474 (GRCm39) E25K probably damaging Het
Phactr1 T A 13: 42,836,197 (GRCm39) Y8* probably null Het
Phf14 T C 6: 11,953,316 (GRCm39) S352P probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Prap1 G T 7: 139,673,390 (GRCm39) probably benign Het
Prdm8 T A 5: 98,333,119 (GRCm39) F229I probably benign Het
Rfx6 T C 10: 51,553,936 (GRCm39) F11L probably benign Het
Rfx8 T A 1: 39,757,565 (GRCm39) probably benign Het
Rif1 C T 2: 52,001,129 (GRCm39) R1528C probably damaging Het
Ripk4 G A 16: 97,564,718 (GRCm39) probably benign Het
Satb1 T A 17: 52,047,231 (GRCm39) I695F probably damaging Het
Sema4d A G 13: 51,859,293 (GRCm39) probably benign Het
Slc30a4 T A 2: 122,527,104 (GRCm39) T381S probably benign Het
Suv39h2 T C 2: 3,465,953 (GRCm39) Y134C probably damaging Het
Tcerg1 C T 18: 42,657,073 (GRCm39) A185V unknown Het
Tep1 T A 14: 51,103,486 (GRCm39) D268V probably damaging Het
Tmem89 T A 9: 108,744,485 (GRCm39) V126D probably damaging Het
Trf T C 9: 103,098,121 (GRCm39) T46A probably benign Het
Trmt6 C T 2: 132,648,689 (GRCm39) R415Q possibly damaging Het
Trp53bp1 T C 2: 121,035,006 (GRCm39) K1625E probably damaging Het
Zcchc4 T A 5: 52,964,420 (GRCm39) I292N possibly damaging Het
Other mutations in Ankrd60
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01980:Ankrd60 APN 2 173,412,996 (GRCm39) missense probably benign 0.33
R0060:Ankrd60 UTSW 2 173,414,406 (GRCm39) start codon destroyed probably null 1.00
R0569:Ankrd60 UTSW 2 173,412,859 (GRCm39) missense probably damaging 1.00
R0587:Ankrd60 UTSW 2 173,410,644 (GRCm39) missense possibly damaging 0.83
R2941:Ankrd60 UTSW 2 173,410,674 (GRCm39) missense probably damaging 1.00
R4549:Ankrd60 UTSW 2 173,414,395 (GRCm39) missense possibly damaging 0.89
R5322:Ankrd60 UTSW 2 173,410,610 (GRCm39) missense possibly damaging 0.76
R5763:Ankrd60 UTSW 2 173,419,882 (GRCm39) frame shift probably null
R5786:Ankrd60 UTSW 2 173,419,882 (GRCm39) frame shift probably null
R5787:Ankrd60 UTSW 2 173,419,882 (GRCm39) frame shift probably null
R5788:Ankrd60 UTSW 2 173,419,882 (GRCm39) frame shift probably null
R7527:Ankrd60 UTSW 2 173,419,966 (GRCm39) missense probably benign 0.00
R7618:Ankrd60 UTSW 2 173,412,834 (GRCm39) splice site probably null
R7756:Ankrd60 UTSW 2 173,410,562 (GRCm39) makesense probably null
R7758:Ankrd60 UTSW 2 173,410,562 (GRCm39) makesense probably null
R8039:Ankrd60 UTSW 2 173,414,284 (GRCm39) critical splice donor site probably null
R9345:Ankrd60 UTSW 2 173,410,610 (GRCm39) missense possibly damaging 0.76
R9573:Ankrd60 UTSW 2 173,410,791 (GRCm39) missense possibly damaging 0.58
R9604:Ankrd60 UTSW 2 173,412,987 (GRCm39) missense probably benign 0.14
Predicted Primers PCR Primer
(F):5'- ACACTCTCCATGCAGAAAGCTCTTC -3'
(R):5'- AATTTCAGGCTCCTGTGCGACC -3'

Sequencing Primer
(F):5'- TTCACACTAAAGACTAAAGACTGGG -3'
(R):5'- TCCTGTGCGACCATCAAG -3'
Posted On 2013-08-06