Incidental Mutation 'R7566:Ankub1'
ID 585433
Institutional Source Beutler Lab
Gene Symbol Ankub1
Ensembl Gene ENSMUSG00000074591
Gene Name ankyrin repeat and ubiquitin domain containing 1
Synonyms LOC242037, Gm410
MMRRC Submission 045628-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7566 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 57574843-57599958 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 57573039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 228 (R228*)
Ref Sequence ENSEMBL: ENSMUSP00000142589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099091] [ENSMUST00000197088] [ENSMUST00000200665]
AlphaFold Q3UUE9
Predicted Effect probably benign
Transcript: ENSMUST00000099091
SMART Domains Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591

DomainStartEndE-ValueType
Blast:UBQ 1 78 3e-41 BLAST
SCOP:d1euvb_ 1 78 3e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000197088
AA Change: R228*
SMART Domains Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: R228*

DomainStartEndE-ValueType
Blast:UBQ 1 78 5e-40 BLAST
ANK 191 220 6.7e-2 SMART
Blast:ANK 239 268 5e-12 BLAST
ANK 273 303 2.6e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200665
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (57/57)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T G 1: 12,021,252 (GRCm39) S420R probably damaging Het
Acat2 C T 17: 13,166,346 (GRCm39) D219N probably damaging Het
Anapc10 G A 8: 80,446,308 (GRCm39) R46Q possibly damaging Het
Arhgap21 T C 2: 20,917,102 (GRCm39) N91S probably benign Het
Arhgap32 T A 9: 32,162,018 (GRCm39) V323D probably benign Het
Bcas1 C T 2: 170,212,369 (GRCm39) probably null Het
Cd109 C T 9: 78,588,119 (GRCm39) P716S probably damaging Het
Chd4 C T 6: 125,078,866 (GRCm39) P267L possibly damaging Het
Cpne7 G T 8: 123,860,552 (GRCm39) V502F probably damaging Het
Cracd G A 5: 77,014,122 (GRCm39) probably null Het
Dlgap4 C T 2: 156,604,657 (GRCm39) A921V probably benign Het
Faap24 G T 7: 35,092,465 (GRCm39) R151S probably benign Het
Fam98a A G 17: 75,854,657 (GRCm39) S51P probably damaging Het
Fbxl8 A G 8: 105,994,938 (GRCm39) D150G possibly damaging Het
Fut10 A G 8: 31,749,950 (GRCm39) K412R probably benign Het
G0s2 T C 1: 192,955,076 (GRCm39) S3G probably benign Het
Gm1527 T C 3: 28,974,767 (GRCm39) Y527H probably benign Het
Gsdmc3 T C 15: 63,733,510 (GRCm39) K227R possibly damaging Het
Gtf2ird2 A G 5: 134,242,848 (GRCm39) Y354C probably damaging Het
Hmcn2 T A 2: 31,344,869 (GRCm39) N4685K probably damaging Het
Itgad A T 7: 127,791,279 (GRCm39) Y717F probably benign Het
Kcnh5 C T 12: 75,161,166 (GRCm39) W247* probably null Het
Kcnt1 C A 2: 25,806,048 (GRCm39) S1212R probably benign Het
Kirrel1 A G 3: 86,995,791 (GRCm39) V381A probably damaging Het
Loxl1 T A 9: 58,219,481 (GRCm39) Q230L probably damaging Het
Magi1 T C 6: 93,655,308 (GRCm39) E1446G probably benign Het
Man1a A G 10: 53,795,330 (GRCm39) V550A possibly damaging Het
Mgat4d T C 8: 84,084,652 (GRCm39) S132P probably damaging Het
Muc16 T A 9: 18,549,925 (GRCm39) H5456L probably benign Het
Nhsl1 A G 10: 18,391,867 (GRCm39) K207R probably damaging Het
Nlrp4a A C 7: 26,148,670 (GRCm39) probably null Het
Nr6a1 T C 2: 38,621,085 (GRCm39) M407V possibly damaging Het
Or13c7b A G 4: 43,820,711 (GRCm39) S217P probably damaging Het
Or2b2b T G 13: 21,858,737 (GRCm39) I126L possibly damaging Het
Or2z2 G T 11: 58,346,489 (GRCm39) F95L probably benign Het
Or6c206 T C 10: 129,097,469 (GRCm39) I213T probably damaging Het
Ovgp1 A G 3: 105,881,626 (GRCm39) probably benign Het
Ovol3 G T 7: 29,933,791 (GRCm39) F110L probably damaging Het
Pcsk5 T C 19: 17,549,821 (GRCm39) T724A probably benign Het
Phtf2 G T 5: 20,970,799 (GRCm39) T653N probably damaging Het
Plch1 A T 3: 63,688,663 (GRCm39) probably null Het
Prkce A T 17: 86,800,757 (GRCm39) E391V probably benign Het
Prob1 A G 18: 35,788,038 (GRCm39) V72A probably benign Het
Prrc2b C A 2: 32,084,402 (GRCm39) P289Q probably benign Het
Ptbp3 A T 4: 59,514,280 (GRCm39) N114K probably benign Het
Rho T A 6: 115,909,135 (GRCm39) L57H probably damaging Het
Slc44a5 A C 3: 153,975,626 (GRCm39) D679A probably damaging Het
Slit2 A T 5: 48,407,239 (GRCm39) D898V probably damaging Het
Spag16 C T 1: 69,909,487 (GRCm39) R195C probably damaging Het
Tmprss11a T G 5: 86,591,993 (GRCm39) D60A possibly damaging Het
Ttn T A 2: 76,565,293 (GRCm39) R28311S probably damaging Het
Wfikkn1 T C 17: 26,097,352 (GRCm39) D324G probably damaging Het
Zan A C 5: 137,410,845 (GRCm39) probably null Het
Zfp945 A T 17: 23,070,727 (GRCm39) C412S possibly damaging Het
Other mutations in Ankub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Ankub1 APN 3 57,597,817 (GRCm39) missense possibly damaging 0.93
IGL03137:Ankub1 APN 3 57,597,778 (GRCm39) missense probably damaging 1.00
R0506:Ankub1 UTSW 3 57,597,796 (GRCm39) missense probably damaging 0.97
R0892:Ankub1 UTSW 3 57,597,800 (GRCm39) missense probably benign 0.24
R2073:Ankub1 UTSW 3 57,599,713 (GRCm39) missense possibly damaging 0.68
R2104:Ankub1 UTSW 3 57,580,296 (GRCm39) nonsense probably null
R4869:Ankub1 UTSW 3 57,597,751 (GRCm39) missense probably damaging 1.00
R5714:Ankub1 UTSW 3 57,580,258 (GRCm39) missense probably benign 0.41
R6229:Ankub1 UTSW 3 57,572,528 (GRCm39) missense probably benign 0.00
R6929:Ankub1 UTSW 3 57,572,854 (GRCm39) nonsense probably null
R7086:Ankub1 UTSW 3 57,597,746 (GRCm39) missense probably damaging 0.99
R7200:Ankub1 UTSW 3 57,580,406 (GRCm39) missense probably benign 0.00
R7290:Ankub1 UTSW 3 57,580,345 (GRCm39) missense probably damaging 1.00
R7305:Ankub1 UTSW 3 57,599,938 (GRCm39) start gained probably benign
R7336:Ankub1 UTSW 3 57,573,108 (GRCm39) missense probably benign 0.00
R7407:Ankub1 UTSW 3 57,572,624 (GRCm39) missense probably benign
R7569:Ankub1 UTSW 3 57,573,039 (GRCm39) nonsense probably null
R7872:Ankub1 UTSW 3 57,572,807 (GRCm39) missense probably damaging 1.00
R8177:Ankub1 UTSW 3 57,597,837 (GRCm39) missense possibly damaging 0.82
R8734:Ankub1 UTSW 3 57,599,706 (GRCm39) missense probably benign 0.15
R8774:Ankub1 UTSW 3 57,597,802 (GRCm39) missense probably damaging 1.00
R8774-TAIL:Ankub1 UTSW 3 57,597,802 (GRCm39) missense probably damaging 1.00
R8973:Ankub1 UTSW 3 57,572,932 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TGTTTCGATGCGATGGCCAG -3'
(R):5'- GCTGTACCAATATCCCAGACCTTC -3'

Sequencing Primer
(F):5'- AATTAACAGCTGGCCAGC -3'
(R):5'- ACCCTGCTTACGGTTAGCATAAGG -3'
Posted On 2019-10-17