Incidental Mutation 'R5788:Ankrd60'
ID 448130
Institutional Source Beutler Lab
Gene Symbol Ankrd60
Ensembl Gene ENSMUSG00000027517
Gene Name ankyrin repeat domain 60
Synonyms 1700030G11Rik, 1700019A24Rik
MMRRC Submission 043382-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5788 (G1)
Quality Score 217
Status Validated
Chromosome 2
Chromosomal Location 173410451-173420066 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TGGCCACGCGG to TGG at 173419882 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109112] [ENSMUST00000119453]
AlphaFold A2AMD2
Predicted Effect probably benign
Transcript: ENSMUST00000109112
SMART Domains Protein: ENSMUSP00000104740
Gene: ENSMUSG00000027517

DomainStartEndE-ValueType
ANK 73 102 2.83e0 SMART
ANK 106 135 2.13e-4 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119453
SMART Domains Protein: ENSMUSP00000113291
Gene: ENSMUSG00000027517

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: ENSMUST00000132669
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147693
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151763
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A G 7: 131,045,328 (GRCm39) Y420C probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Amfr T A 8: 94,726,942 (GRCm39) R90S probably damaging Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Atp8a2 T A 14: 60,258,242 (GRCm39) D440V probably damaging Het
Bahcc1 A G 11: 120,177,178 (GRCm39) D2022G probably damaging Het
Bicd1 T C 6: 149,385,498 (GRCm39) F77S probably benign Het
Ccdc66 C T 14: 27,220,448 (GRCm39) R255H probably benign Het
Ckm A G 7: 19,153,372 (GRCm39) D152G probably benign Het
Cpsf7 T G 19: 10,518,082 (GRCm39) S431A possibly damaging Het
Csmd1 T C 8: 16,251,980 (GRCm39) T959A probably damaging Het
Dkk4 T C 8: 23,115,347 (GRCm39) C66R probably damaging Het
Espl1 T A 15: 102,232,465 (GRCm39) W2058R probably damaging Het
Evi5l A T 8: 4,256,800 (GRCm39) probably benign Het
Fancg A T 4: 43,007,130 (GRCm39) probably benign Het
Flg2 A T 3: 93,108,296 (GRCm39) H108L probably benign Het
Fzd2 A T 11: 102,496,293 (GRCm39) T246S probably benign Het
Gm10428 T G 11: 62,644,107 (GRCm39) probably benign Het
Gm1988 T A 7: 38,821,627 (GRCm39) noncoding transcript Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm7133 A T 1: 97,171,201 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,717,962 (GRCm39) N710S probably benign Het
Hcn2 T C 10: 79,552,945 (GRCm39) V148A possibly damaging Het
Hephl1 A G 9: 14,995,579 (GRCm39) L483S possibly damaging Het
Hinfp C T 9: 44,209,105 (GRCm39) E338K possibly damaging Het
Hsd17b4 G A 18: 50,306,776 (GRCm39) D494N probably damaging Het
Ipo4 C T 14: 55,866,277 (GRCm39) V801M probably benign Het
Kcns2 A C 15: 34,839,000 (GRCm39) Y121S probably benign Het
Kif1c T A 11: 70,599,654 (GRCm39) L462H probably damaging Het
Lrrk2 T G 15: 91,648,851 (GRCm39) V1615G possibly damaging Het
Naca G A 10: 127,876,011 (GRCm39) probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Ndufs2 A G 1: 171,066,954 (GRCm39) Y135H probably damaging Het
Nwd2 T C 5: 63,965,114 (GRCm39) V1566A probably benign Het
Or52d13 C T 7: 103,110,086 (GRCm39) V110I possibly damaging Het
Or52n4b T C 7: 108,144,551 (GRCm39) I271T probably damaging Het
Or5t17 A G 2: 86,832,645 (GRCm39) T111A probably benign Het
Or6c75 A G 10: 129,336,779 (GRCm39) M1V probably null Het
Or6c75 A T 10: 129,336,763 (GRCm39) L3F probably benign Het
Pcid2 C T 8: 13,150,320 (GRCm39) probably null Het
Pld4 A C 12: 112,730,551 (GRCm39) I145L probably benign Het
Pogk A T 1: 166,236,580 (GRCm39) probably benign Het
Rhbg C T 3: 88,152,874 (GRCm39) V280I probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rxfp3 A G 15: 11,036,250 (GRCm39) F374S possibly damaging Het
Son A G 16: 91,456,940 (GRCm39) probably benign Het
Specc1l G T 10: 75,112,755 (GRCm39) R994L probably damaging Het
Tas2r135 T A 6: 42,382,531 (GRCm39) D23E probably damaging Het
Teddm2 A T 1: 153,726,810 (GRCm39) H21Q probably benign Het
Tet1 T C 10: 62,675,737 (GRCm39) T780A possibly damaging Het
Thbs1 T A 2: 117,952,989 (GRCm39) D866E probably damaging Het
Tmed4 A G 11: 6,221,743 (GRCm39) W198R probably damaging Het
Ttn A T 2: 76,749,575 (GRCm39) C3825S probably benign Het
Uchl1 T A 5: 66,833,754 (GRCm39) probably benign Het
Wsb2 A G 5: 117,515,483 (GRCm39) T363A possibly damaging Het
Zfp266 A G 9: 20,417,332 (GRCm39) Y19H probably damaging Het
Zkscan17 A G 11: 59,378,086 (GRCm39) C366R probably 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
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
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'- GGCAGTTACGAGTGTCATGG -3'
(R):5'- GAACAGACAAGAGGTTCCCC -3'

Sequencing Primer
(F):5'- ACCCAGGGCAGGAGTGG -3'
(R):5'- GACTCCTGACGTCTATGT -3'
Posted On 2016-12-15