Incidental Mutation 'IGL03137:Ankub1'
ID410571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ankub1
Ensembl Gene ENSMUSG00000074591
Gene Nameankrin repeat and ubiquitin domain containing 1
SynonymsGm410, LOC242037
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03137
Quality Score
Status
Chromosome3
Chromosomal Location57657393-57692799 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 57690357 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 64 (D64G)
Ref Sequence ENSEMBL: ENSMUSP00000142589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099091] [ENSMUST00000197088] [ENSMUST00000200665]
Predicted Effect probably damaging
Transcript: ENSMUST00000099091
AA Change: D64G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096689
Gene: ENSMUSG00000074591
AA Change: D64G

DomainStartEndE-ValueType
Blast:UBQ 1 78 3e-41 BLAST
SCOP:d1euvb_ 1 78 3e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000197088
AA Change: D64G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142589
Gene: ENSMUSG00000074591
AA Change: D64G

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,034,602 M569K probably damaging Het
AI481877 G T 4: 59,094,162 F187L probably benign Het
Apobec2 C T 17: 48,423,275 W121* probably null Het
Arid2 A G 15: 96,371,318 N1104S probably benign Het
Brap T C 5: 121,665,093 probably benign Het
Cilp A C 9: 65,278,168 N515T probably benign Het
Cpeb2 T A 5: 43,261,724 probably benign Het
Creb1 C T 1: 64,576,215 T242I possibly damaging Het
Ddx60 T C 8: 61,988,083 V1062A possibly damaging Het
Dock8 A G 19: 25,155,948 E1153G probably benign Het
Gk5 A G 9: 96,176,292 probably benign Het
Gm5478 G T 15: 101,644,382 N60K probably benign Het
Hmcn2 T A 2: 31,362,230 V904D probably damaging Het
Hnmt T A 2: 24,048,739 H29L probably damaging Het
Hsf1 A G 15: 76,496,449 probably benign Het
Igkv1-122 C A 6: 68,017,416 T96K probably damaging Het
Iyd T C 10: 3,551,987 I211T probably damaging Het
Kcnn1 G T 8: 70,850,737 H34N probably damaging Het
Krtap5-3 G T 7: 142,202,209 probably benign Het
Map3k19 C T 1: 127,824,315 R433K probably benign Het
Mss51 A C 14: 20,487,132 C89W probably damaging Het
Myh9 A T 15: 77,791,089 I276N probably damaging Het
Myof T C 19: 37,974,889 E420G probably damaging Het
Nfatc2ip C A 7: 126,390,568 V215L possibly damaging Het
Olfr1113 A T 2: 87,213,156 Y88F probably benign Het
Olfr631 T C 7: 103,929,594 M257T probably benign Het
Olfr73 G A 2: 88,034,410 A243V probably benign Het
Pcdhb4 T C 18: 37,308,516 I293T probably damaging Het
Pdcd6ip A G 9: 113,657,145 S729P possibly damaging Het
Pick1 C A 15: 79,245,301 H169N possibly damaging Het
Ppp4r4 A C 12: 103,581,384 K212T probably damaging Het
Racgap1 A G 15: 99,628,741 S314P probably damaging Het
Rasef C A 4: 73,734,483 E594* probably null Het
Ryr3 T G 2: 112,910,397 K522Q probably benign Het
Six5 T C 7: 19,097,147 probably benign Het
Slc26a9 G T 1: 131,763,877 E619D probably benign Het
Sqor A G 2: 122,808,071 I412V probably benign Het
Srrt T A 5: 137,296,117 probably benign Het
Sult1e1 C T 5: 87,578,616 R213K probably benign Het
Tmc2 T A 2: 130,240,130 L411H probably damaging Het
Tmem63b T A 17: 45,664,995 N511Y probably damaging Het
Ucp3 T A 7: 100,482,762 probably benign Het
Vmn1r201 A T 13: 22,474,804 I63F probably benign Het
Vps13c G T 9: 67,890,380 L522F probably damaging Het
Wwp1 T A 4: 19,678,408 T3S probably damaging Het
Zc3hav1 A G 6: 38,332,394 S498P probably benign Het
Other mutations in Ankub1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Ankub1 APN 3 57690396 missense possibly damaging 0.93
R0506:Ankub1 UTSW 3 57690375 missense probably damaging 0.97
R0892:Ankub1 UTSW 3 57690379 missense probably benign 0.24
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
Posted On2016-08-02