Incidental Mutation 'R5052:Aktip'
ID 394703
Institutional Source Beutler Lab
Gene Symbol Aktip
Ensembl Gene ENSMUSG00000031667
Gene Name AKT interacting protein
Synonyms Ft1
MMRRC Submission 042642-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5052 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 91834267-91862122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 91856279 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 66 (T66I)
Ref Sequence ENSEMBL: ENSMUSP00000119277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109609] [ENSMUST00000120213] [ENSMUST00000120349] [ENSMUST00000120426] [ENSMUST00000125257] [ENSMUST00000209311] [ENSMUST00000209444]
AlphaFold Q64362
Predicted Effect possibly damaging
Transcript: ENSMUST00000109609
AA Change: T66I

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105238
Gene: ENSMUSG00000031667
AA Change: T66I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120213
AA Change: T66I

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000112375
Gene: ENSMUSG00000031667
AA Change: T66I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120349
AA Change: T66I

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113769
Gene: ENSMUSG00000031667
AA Change: T66I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120426
AA Change: T66I

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667
AA Change: T66I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000125257
AA Change: T66I

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119277
Gene: ENSMUSG00000031667
AA Change: T66I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153201
Predicted Effect probably benign
Transcript: ENSMUST00000209311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211042
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210426
Predicted Effect probably benign
Transcript: ENSMUST00000209444
Predicted Effect probably benign
Transcript: ENSMUST00000211050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211618
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.0%
  • 10x: 94.8%
  • 20x: 86.2%
Validation Efficiency 100% (58/58)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,563,162 (GRCm39) probably null Het
Adgrv1 T C 13: 81,676,940 (GRCm39) T1964A probably damaging Het
Agbl5 C T 5: 31,048,558 (GRCm39) T210I possibly damaging Het
Ak5 T C 3: 152,366,204 (GRCm39) T66A probably benign Het
Aldh1l2 T C 10: 83,344,556 (GRCm39) Y330C possibly damaging Het
Btbd19 T G 4: 116,979,454 (GRCm39) K122Q possibly damaging Het
Cd180 A G 13: 102,841,403 (GRCm39) T150A probably benign Het
Celsr2 A G 3: 108,319,674 (GRCm39) I1046T probably damaging Het
Cep170 C T 1: 176,621,117 (GRCm39) R20Q probably damaging Het
Cercam T A 2: 29,765,639 (GRCm39) N260K probably damaging Het
Cfh T A 1: 140,071,782 (GRCm39) H284L probably damaging Het
Chmp5 A G 4: 40,948,608 (GRCm39) M1V probably null Het
Elp3 A T 14: 65,815,389 (GRCm39) I220N probably damaging Het
Esyt2 A G 12: 116,331,416 (GRCm39) T765A probably damaging Het
Evi5l T C 8: 4,256,019 (GRCm39) probably benign Het
Gm5866 T G 5: 52,740,234 (GRCm39) noncoding transcript Het
Grik1 C A 16: 87,746,986 (GRCm39) G417V probably benign Het
Gtpbp1 T G 15: 79,600,170 (GRCm39) I399R probably damaging Het
Il17rc T C 6: 113,449,284 (GRCm39) C14R probably damaging Het
Ipo9 T C 1: 135,316,349 (GRCm39) probably null Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Map3k15 T C X: 158,771,742 (GRCm39) V105A possibly damaging Het
Mitf A G 6: 97,987,406 (GRCm39) T320A possibly damaging Het
Ncapd3 T G 9: 26,963,015 (GRCm39) L440R probably damaging Het
Nrxn2 C G 19: 6,505,234 (GRCm39) A359G probably damaging Het
P2rx3 T G 2: 84,829,368 (GRCm39) I371L probably benign Het
Pde1b C A 15: 103,436,075 (GRCm39) Q493K possibly damaging Het
Ptpn13 T C 5: 103,709,846 (GRCm39) F1503S probably damaging Het
Ptprz1 T G 6: 23,045,625 (GRCm39) W1283G probably damaging Het
Rasd2 T A 8: 75,948,564 (GRCm39) D163E possibly damaging Het
Rgs11 A G 17: 26,426,947 (GRCm39) probably benign Het
Scap T C 9: 110,182,220 (GRCm39) I37T possibly damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Slc25a54 A G 3: 109,010,016 (GRCm39) I172V probably benign Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Tacc2 T A 7: 130,336,744 (GRCm39) D171E probably damaging Het
Tmco4 A G 4: 138,785,817 (GRCm39) E629G probably benign Het
Trav7-1 T G 14: 52,892,765 (GRCm39) L106R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Utf1 T C 7: 139,524,814 (GRCm39) probably benign Het
Zdhhc13 A G 7: 48,474,479 (GRCm39) N577S possibly damaging Het
Zmym6 A G 4: 127,017,767 (GRCm39) N1183D possibly damaging Het
Other mutations in Aktip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01958:Aktip APN 8 91,852,853 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GAGCAACCTGGGAACAAGTCTG -3'
(R):5'- CTAGGACGGAGCTAACAGTGTG -3'

Sequencing Primer
(F):5'- AGTCTGAGCTGTACGATTAGTTCACC -3'
(R):5'- GAGTTGCCATAAATGCTCTCAC -3'
Posted On 2016-06-15