Incidental Mutation 'R2073:Ankub1'
ID 227309
Institutional Source Beutler Lab
Gene Symbol Ankub1
Ensembl Gene ENSMUSG00000074591
Gene Name ankyrin repeat and ubiquitin domain containing 1
Synonyms LOC242037, Gm410
MMRRC Submission 040078-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2073 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 57574843-57599958 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57599713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 19 (H19Y)
Ref Sequence ENSEMBL: ENSMUSP00000142589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099091] [ENSMUST00000197088] [ENSMUST00000200665]
AlphaFold Q3UUE9
Predicted Effect possibly damaging
Transcript: ENSMUST00000099091
AA Change: H19Y

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591
AA Change: H19Y

DomainStartEndE-ValueType
Blast:UBQ 1 78 3e-41 BLAST
SCOP:d1euvb_ 1 78 3e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000197088
AA Change: H19Y

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: H19Y

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 noncoding transcript
Transcript: ENSMUST00000199989
Predicted Effect possibly damaging
Transcript: ENSMUST00000200665
AA Change: H19Y

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T C 7: 130,959,242 (GRCm39) R153G probably benign Het
5730596B20Rik C A 6: 52,155,962 (GRCm39) Y9* probably null Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Acot3 A G 12: 84,100,230 (GRCm39) H2R possibly damaging Het
Adamts13 T A 2: 26,896,326 (GRCm39) C1240S probably damaging Het
Adra1b T C 11: 43,726,698 (GRCm39) N73S probably damaging Het
Aebp2 G A 6: 140,579,420 (GRCm39) S219N probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ank T C 15: 27,565,108 (GRCm39) S270P probably benign Het
Ankle1 G A 8: 71,861,973 (GRCm39) R492H possibly damaging Het
Anln C A 9: 22,244,464 (GRCm39) W1083L probably benign Het
Apaf1 G T 10: 90,867,556 (GRCm39) S763* probably null Het
Apba3 A G 10: 81,105,128 (GRCm39) T134A probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Bod1l C T 5: 41,976,532 (GRCm39) S1594N probably benign Het
C7 T C 15: 5,019,910 (GRCm39) M746V probably benign Het
Cdkn2a T A 4: 89,212,730 (GRCm39) I11F possibly damaging Het
Cideb T C 14: 55,992,617 (GRCm39) M100V possibly damaging Het
Cntnap5c T C 17: 58,612,547 (GRCm39) L862P possibly damaging Het
Coch A T 12: 51,649,472 (GRCm39) D261V probably benign Het
Cyp2ab1 A G 16: 20,132,639 (GRCm39) F220L possibly damaging Het
Ddx10 A T 9: 53,151,805 (GRCm39) D73E probably benign Het
Dgkg A G 16: 22,384,067 (GRCm39) F462S probably damaging Het
Dlgap3 C T 4: 127,089,159 (GRCm39) H252Y probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dnaaf6rt A G 1: 31,262,077 (GRCm39) S20G probably benign Het
Dnai4 G A 4: 102,907,390 (GRCm39) T632M probably damaging Het
Dtnb A G 12: 3,831,273 (GRCm39) T658A probably benign Het
Duox2 T A 2: 122,125,639 (GRCm39) S323C probably damaging Het
Dync1h1 T A 12: 110,581,026 (GRCm39) I251N probably damaging Het
Eml5 A G 12: 98,768,705 (GRCm39) S1457P probably damaging Het
Fam114a1 T A 5: 65,153,247 (GRCm39) probably null Het
Fcho1 A T 8: 72,163,133 (GRCm39) L632Q probably damaging Het
Gm12695 T C 4: 96,612,182 (GRCm39) Y527C possibly damaging Het
Gm16223 T C 5: 42,371,942 (GRCm39) C111R unknown Het
H2-Q4 T A 17: 35,599,378 (GRCm39) S154T possibly damaging Het
Hhat A G 1: 192,409,687 (GRCm39) F125L possibly damaging Het
Ier5l T A 2: 30,363,068 (GRCm39) D319V probably damaging Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
M1ap A G 6: 82,958,863 (GRCm39) I165V probably benign Het
Map2k4 A C 11: 65,584,282 (GRCm39) F334V probably damaging Het
Mmp19 G A 10: 128,630,848 (GRCm39) R156H probably damaging Het
Mpped2 T A 2: 106,575,147 (GRCm39) Y77* probably null Het
Nhs T A X: 160,625,717 (GRCm39) H544L probably damaging Het
Nr4a1 C A 15: 101,171,948 (GRCm39) H541N probably damaging Het
Or4a74 A G 2: 89,439,822 (GRCm39) V208A probably benign Het
Or5b122 A T 19: 13,562,965 (GRCm39) Q99L probably damaging Het
Pak6 A C 2: 118,519,332 (GRCm39) N17T probably damaging Het
Pcnt T A 10: 76,216,214 (GRCm39) T2225S possibly damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phf21a A G 2: 92,178,381 (GRCm39) D357G probably damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plch2 A T 4: 155,074,366 (GRCm39) L754Q probably damaging Het
Plekhd1 A G 12: 80,768,066 (GRCm39) N335D probably benign Het
Pole C A 5: 110,473,417 (GRCm39) T1737N probably damaging Het
Potefam1 T C 2: 111,030,763 (GRCm39) E382G probably damaging Het
Pramel6 G A 2: 87,339,088 (GRCm39) S96N probably damaging Het
Prdm14 A C 1: 13,195,954 (GRCm39) Y36D possibly damaging Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Rfc1 A T 5: 65,459,282 (GRCm39) D225E probably damaging Het
Sec16a A G 2: 26,330,251 (GRCm39) I588T probably damaging Het
Setd6 G A 8: 96,443,416 (GRCm39) V60M probably damaging Het
Sgk3 A G 1: 9,961,649 (GRCm39) I432V probably benign Het
Six2 A G 17: 85,994,933 (GRCm39) S150P probably damaging Het
Slc1a6 T C 10: 78,635,964 (GRCm39) V343A possibly damaging Het
Slc43a3 T C 2: 84,774,956 (GRCm39) probably null Het
Smc3 A G 19: 53,619,964 (GRCm39) D620G probably benign Het
Smg6 C G 11: 74,821,120 (GRCm39) P464A probably damaging Het
Sox11 T C 12: 27,392,278 (GRCm39) T44A possibly damaging Het
Spata22 A G 11: 73,227,052 (GRCm39) R89G possibly damaging Het
Spmip6 A G 4: 41,507,519 (GRCm39) probably null Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Syne2 A G 12: 76,062,353 (GRCm39) D4226G possibly damaging Het
Tecpr2 T C 12: 110,934,863 (GRCm39) S1370P possibly damaging Het
Tek A G 4: 94,715,966 (GRCm39) I463V probably benign Het
Trib1 T A 15: 59,526,189 (GRCm39) I253N probably damaging Het
Triobp G T 15: 78,858,095 (GRCm39) G1232V probably damaging Het
Trpm6 G A 19: 18,853,406 (GRCm39) V1809M probably damaging Het
Tsc22d4 A G 5: 137,760,749 (GRCm39) K57E possibly damaging Het
Vmn2r109 T A 17: 20,784,974 (GRCm39) K15N probably benign Het
Wnt9a A G 11: 59,222,055 (GRCm39) N318D probably damaging Het
Wwp1 A G 4: 19,662,181 (GRCm39) V138A possibly damaging Het
Zfp37 A T 4: 62,109,945 (GRCm39) M411K probably damaging Het
Zfp715 T A 7: 42,960,544 (GRCm39) T16S probably benign Het
Zfp932 A G 5: 110,157,684 (GRCm39) T461A possibly damaging Het
Zscan29 A T 2: 120,991,336 (GRCm39) C817* probably null 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
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
R7566:Ankub1 UTSW 3 57,573,039 (GRCm39) nonsense probably null
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'- GCTCAGTTTGTTATCTAAGATCCCC -3'
(R):5'- GACAATGACAGCTGCCTCTG -3'

Sequencing Primer
(F):5'- CAGATCTTCAACTGTAAGGCA -3'
(R):5'- GGCCATCAATTTGGTCCTCAATCG -3'
Posted On 2014-09-17