Incidental Mutation 'R0892:Ankub1'
ID83526
Institutional Source Beutler Lab
Gene Symbol Ankub1
Ensembl Gene ENSMUSG00000074591
Gene Nameankrin repeat and ubiquitin domain containing 1
SynonymsGm410, LOC242037
MMRRC Submission 039055-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0892 (G1)
Quality Score225
Status Not validated
Chromosome3
Chromosomal Location57657393-57692799 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57690379 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 57 (R57G)
Ref Sequence ENSEMBL: ENSMUSP00000096689 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099091] [ENSMUST00000197088] [ENSMUST00000200665]
Predicted Effect probably benign
Transcript: ENSMUST00000099091
AA Change: R57G

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591
AA Change: R57G

DomainStartEndE-ValueType
Blast:UBQ 1 78 3e-41 BLAST
SCOP:d1euvb_ 1 78 3e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197088
AA Change: R57G

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: R57G

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: 99.5%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008L16Rik A G 12: 55,382,248 probably null Het
Abca13 T A 11: 9,298,305 V2684E probably benign Het
Bcr C T 10: 75,125,063 A442V probably benign Het
Cd46 T C 1: 195,082,612 T226A possibly damaging Het
Dmkn C T 7: 30,767,404 R114C probably damaging Het
Ell2 A T 13: 75,763,639 N348I probably damaging Het
Epg5 T A 18: 77,968,628 I830N possibly damaging Het
Gm15737 C T 6: 92,879,740 probably benign Het
Gpa33 A G 1: 166,157,642 N182S probably damaging Het
Gpr37 A T 6: 25,688,207 I297N probably damaging Het
Hpse2 T C 19: 43,388,146 K56E probably benign Het
Lamc1 G A 1: 153,332,254 H96Y possibly damaging Het
Mapre2 A G 18: 23,858,143 N189S probably benign Het
Msmo1 T A 8: 64,722,553 I148F possibly damaging Het
Myh6 T C 14: 54,947,054 T1607A probably benign Het
Olfr1484 T A 19: 13,585,517 V28D probably damaging Het
Oog2 A T 4: 144,196,499 T445S probably benign Het
Plag1 G A 4: 3,904,532 Q220* probably null Het
Pom121l2 A G 13: 21,982,474 E305G possibly damaging Het
Sbsn A T 7: 30,754,819 Q50L possibly damaging Het
Slc25a42 A G 8: 70,191,947 L34P probably damaging Het
Sptbn1 C A 11: 30,142,201 R521S probably damaging Het
St14 A T 9: 31,100,428 V394E probably benign Het
Tatdn3 T C 1: 191,062,805 D18G probably benign Het
Trappc8 A G 18: 20,831,608 probably null Het
Other mutations in Ankub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Ankub1 APN 3 57690396 missense possibly damaging 0.93
IGL03137:Ankub1 APN 3 57690357 missense probably damaging 1.00
R0506:Ankub1 UTSW 3 57690375 missense probably damaging 0.97
R2073:Ankub1 UTSW 3 57692292 missense possibly damaging 0.68
R2104:Ankub1 UTSW 3 57672875 nonsense probably null
R4869:Ankub1 UTSW 3 57690330 missense probably damaging 1.00
R5714:Ankub1 UTSW 3 57672837 missense probably benign 0.41
R6229:Ankub1 UTSW 3 57665107 missense probably benign 0.00
R6929:Ankub1 UTSW 3 57665433 nonsense probably null
R7086:Ankub1 UTSW 3 57690325 missense probably damaging 0.99
R7200:Ankub1 UTSW 3 57672985 missense probably benign 0.00
R7290:Ankub1 UTSW 3 57672924 missense probably damaging 1.00
R7305:Ankub1 UTSW 3 57692517 start gained probably benign
R7336:Ankub1 UTSW 3 57665687 missense probably benign 0.00
R7407:Ankub1 UTSW 3 57665203 missense probably benign
R7566:Ankub1 UTSW 3 57665618 nonsense probably null
R7569:Ankub1 UTSW 3 57665618 nonsense probably null
R7872:Ankub1 UTSW 3 57665386 missense probably damaging 1.00
R8177:Ankub1 UTSW 3 57690416 missense possibly damaging 0.82
Predicted Primers
Posted On2013-11-08