Incidental Mutation 'IGL01958:Aktip'
ID 181480
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aktip
Ensembl Gene ENSMUSG00000031667
Gene Name AKT interacting protein
Synonyms Ft1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01958
Quality Score
Status
Chromosome 8
Chromosomal Location 91834267-91862122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 91852853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 159 (D159G)
Ref Sequence ENSEMBL: ENSMUSP00000119277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034091] [ENSMUST00000109609] [ENSMUST00000120213] [ENSMUST00000120349] [ENSMUST00000120426] [ENSMUST00000125257] [ENSMUST00000209311] [ENSMUST00000209444] [ENSMUST00000209518] [ENSMUST00000211136]
AlphaFold Q64362
Predicted Effect probably benign
Transcript: ENSMUST00000034091
SMART Domains Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666

DomainStartEndE-ValueType
low complexity region 8 30 N/A INTRINSIC
CYCLIN 44 131 5.81e-1 SMART
DUF3452 94 236 2.36e-77 SMART
low complexity region 301 313 N/A INTRINSIC
RB_A 414 606 3.42e-106 SMART
low complexity region 722 733 N/A INTRINSIC
low complexity region 758 771 N/A INTRINSIC
low complexity region 776 789 N/A INTRINSIC
low complexity region 804 818 N/A INTRINSIC
CYCLIN 845 1008 2.86e-6 SMART
Rb_C 1019 1135 5.42e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109609
AA Change: D159G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105238
Gene: ENSMUSG00000031667
AA Change: D159G

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120213
AA Change: D159G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112375
Gene: ENSMUSG00000031667
AA Change: D159G

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120349
AA Change: D159G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113769
Gene: ENSMUSG00000031667
AA Change: D159G

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120426
AA Change: D159G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667
AA Change: D159G

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125257
AA Change: D159G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119277
Gene: ENSMUSG00000031667
AA Change: D159G

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153201
Predicted Effect probably benign
Transcript: ENSMUST00000209311
Predicted Effect probably benign
Transcript: ENSMUST00000209444
Predicted Effect probably benign
Transcript: ENSMUST00000209518
Predicted Effect probably benign
Transcript: ENSMUST00000211136
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210426
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211618
Predicted Effect probably benign
Transcript: ENSMUST00000211050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211042
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mouse homolog of this gene produces fused toes and thymic hyperplasia in heterozygous mutant animals while homozygous mutants die in early development. This gene may play a role in apoptosis as these morphological abnormalities are caused by altered patterns of programmed cell death. The protein encoded by this gene is similar to the ubiquitin ligase domain of other ubiquitin-conjugating enzymes but lacks the conserved cysteine residue that enables those enzymes to conjugate ubiquitin to the target protein. This protein interacts directly with serine/threonine kinase protein kinase B (PKB)/Akt and modulates PKB activity by enhancing the phosphorylation of PKB's regulatory sites. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik T C 10: 95,629,659 (GRCm39) I29T probably damaging Het
Agps G A 2: 75,740,045 (GRCm39) probably null Het
Agxt2 A G 15: 10,393,794 (GRCm39) probably null Het
Ahnak T C 19: 8,992,273 (GRCm39) V4519A possibly damaging Het
Ankrd44 T C 1: 54,806,125 (GRCm39) I94V probably damaging Het
Asph T C 4: 9,474,904 (GRCm39) E674G possibly damaging Het
Atat1 T A 17: 36,219,735 (GRCm39) probably benign Het
Ccar1 G A 10: 62,626,714 (GRCm39) A20V possibly damaging Het
Cdc26 T C 4: 62,321,001 (GRCm39) D14G probably damaging Het
Cdh15 T C 8: 123,586,089 (GRCm39) F156S probably damaging Het
Dctn1 A G 6: 83,168,326 (GRCm39) T525A possibly damaging Het
Dnah8 T G 17: 31,074,869 (GRCm39) probably benign Het
Dnajc10 T A 2: 80,151,648 (GRCm39) probably benign Het
Dtl C A 1: 191,300,489 (GRCm39) W125L probably damaging Het
Fam3c G A 6: 22,318,954 (GRCm39) T149I probably damaging Het
Fgd6 A G 10: 93,974,170 (GRCm39) T1304A probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm6578 A G 6: 12,099,766 (GRCm39) noncoding transcript Het
Gnai1 A G 5: 18,478,568 (GRCm39) F199S probably damaging Het
Grb7 T A 11: 98,345,480 (GRCm39) V480D probably damaging Het
Hdc A G 2: 126,436,452 (GRCm39) L473P possibly damaging Het
Hmcn1 T C 1: 150,479,622 (GRCm39) N4614S probably benign Het
Il20ra A G 10: 19,634,791 (GRCm39) D344G probably benign Het
Ints1 C T 5: 139,745,843 (GRCm39) R1342Q possibly damaging Het
Itga9 T A 9: 118,465,562 (GRCm39) probably benign Het
Kat14 T C 2: 144,236,285 (GRCm39) L339P probably damaging Het
Klhl22 A G 16: 17,594,326 (GRCm39) I152V probably benign Het
Krtap5-2 C A 7: 141,729,459 (GRCm39) G74* probably null Het
Lrrc59 C A 11: 94,529,354 (GRCm39) probably null Het
Map3k13 A G 16: 21,710,873 (GRCm39) Q52R probably benign Het
Mb21d2 A G 16: 28,646,495 (GRCm39) probably benign Het
Mphosph9 A T 5: 124,463,053 (GRCm39) probably benign Het
Myrf A G 19: 10,187,742 (GRCm39) probably benign Het
Nek11 T C 9: 105,177,502 (GRCm39) T250A probably benign Het
Nek5 A T 8: 22,586,842 (GRCm39) V323E probably benign Het
Nfasc A T 1: 132,536,176 (GRCm39) C586* probably null Het
Nup210l T A 3: 90,111,231 (GRCm39) L1711Q possibly damaging Het
Parp8 T G 13: 117,013,108 (GRCm39) K644Q probably benign Het
Pcnt G T 10: 76,269,513 (GRCm39) Q252K probably damaging Het
Pianp A G 6: 124,977,646 (GRCm39) T181A possibly damaging Het
Pkd1 T C 17: 24,799,298 (GRCm39) V2839A probably damaging Het
Poli C T 18: 70,659,657 (GRCm39) R58H possibly damaging Het
Ptk7 T C 17: 46,890,353 (GRCm39) D447G probably benign Het
Rapgef5 A G 12: 117,694,386 (GRCm39) I637V probably benign Het
Rasip1 A T 7: 45,286,188 (GRCm39) R804* probably null Het
Relt A G 7: 100,500,350 (GRCm39) V113A probably benign Het
Rnf215 G T 11: 4,090,317 (GRCm39) C345F probably damaging Het
Scart2 T C 7: 139,854,040 (GRCm39) C348R probably damaging Het
Scn2a A G 2: 65,532,173 (GRCm39) D595G probably damaging Het
Serpina3k G A 12: 104,307,316 (GRCm39) V183M probably damaging Het
Snapc4 T C 2: 26,256,452 (GRCm39) probably benign Het
Sparcl1 A T 5: 104,240,406 (GRCm39) D339E probably benign Het
Tg T C 15: 66,631,335 (GRCm39) F535L probably benign Het
Zbtb45 C A 7: 12,740,203 (GRCm39) A471S probably benign Het
Zfp106 T A 2: 120,365,288 (GRCm39) K373M probably benign Het
Other mutations in Aktip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02351:Aktip APN 8 91,853,520 (GRCm39) missense possibly damaging 0.73
IGL02358:Aktip APN 8 91,853,520 (GRCm39) missense possibly damaging 0.73
IGL03085:Aktip APN 8 91,852,651 (GRCm39) critical splice donor site probably null
R1564:Aktip UTSW 8 91,857,709 (GRCm39) start codon destroyed probably null 0.94
R1809:Aktip UTSW 8 91,856,348 (GRCm39) missense probably damaging 1.00
R1851:Aktip UTSW 8 91,852,505 (GRCm39) missense possibly damaging 0.93
R4067:Aktip UTSW 8 91,852,466 (GRCm39) missense possibly damaging 0.87
R4455:Aktip UTSW 8 91,851,479 (GRCm39) missense probably benign 0.00
R5052:Aktip UTSW 8 91,856,279 (GRCm39) missense possibly damaging 0.47
R5330:Aktip UTSW 8 91,853,352 (GRCm39) missense probably damaging 0.98
R6134:Aktip UTSW 8 91,856,388 (GRCm39) missense probably damaging 1.00
R6178:Aktip UTSW 8 91,852,671 (GRCm39) missense probably damaging 0.98
R6984:Aktip UTSW 8 91,853,346 (GRCm39) missense probably damaging 1.00
R7672:Aktip UTSW 8 91,856,285 (GRCm39) missense possibly damaging 0.67
R8213:Aktip UTSW 8 91,851,494 (GRCm39) missense possibly damaging 0.51
R8386:Aktip UTSW 8 91,857,674 (GRCm39) missense probably benign 0.04
R8850:Aktip UTSW 8 91,853,402 (GRCm39) missense probably benign 0.00
R9712:Aktip UTSW 8 91,856,355 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07