Incidental Mutation 'R6984:Aktip'
ID 542842
Institutional Source Beutler Lab
Gene Symbol Aktip
Ensembl Gene ENSMUSG00000031667
Gene Name AKT interacting protein
Synonyms Ft1
MMRRC Submission 045091-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6984 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 91834267-91862122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91853346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 124 (F124I)
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: F124I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105238
Gene: ENSMUSG00000031667
AA Change: F124I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120213
AA Change: F124I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112375
Gene: ENSMUSG00000031667
AA Change: F124I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120349
AA Change: F124I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113769
Gene: ENSMUSG00000031667
AA Change: F124I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667
AA Change: F124I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000125257
AA Change: F124I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119277
Gene: ENSMUSG00000031667
AA Change: F124I

DomainStartEndE-ValueType
UBCc 77 222 3.97e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209311
Predicted Effect probably benign
Transcript: ENSMUST00000209444
Predicted Effect probably benign
Transcript: ENSMUST00000209518
Predicted Effect probably benign
Transcript: ENSMUST00000211050
Predicted Effect probably benign
Transcript: ENSMUST00000211136
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,383,937 (GRCm39) V676A probably benign Het
Abcb5 A G 12: 118,891,012 (GRCm39) M495T possibly damaging Het
Alpk2 C A 18: 65,438,749 (GRCm39) Q1348H possibly damaging Het
Apol11b T C 15: 77,519,546 (GRCm39) D178G probably benign Het
Asb15 A T 6: 24,566,336 (GRCm39) I430F probably benign Het
Chd2 A C 7: 73,134,159 (GRCm39) Y729* probably null Het
Cpb2 T C 14: 75,502,898 (GRCm39) V159A possibly damaging Het
Csf2rb A G 15: 78,229,719 (GRCm39) S429G probably damaging Het
Ctsw C T 19: 5,516,646 (GRCm39) R133H probably damaging Het
Dhx30 A G 9: 109,920,485 (GRCm39) probably null Het
Dnah8 G A 17: 30,958,712 (GRCm39) G2185R probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
Enthd1 A T 15: 80,444,309 (GRCm39) I82N probably damaging Het
Epx T A 11: 87,759,424 (GRCm39) D555V probably damaging Het
Fhdc1 T G 3: 84,351,823 (GRCm39) D1134A possibly damaging Het
Fip1l1 T A 5: 74,702,734 (GRCm39) V82D probably damaging Het
Fn1 A T 1: 71,665,238 (GRCm39) F960I probably damaging Het
Gsdmc2 A T 15: 63,696,898 (GRCm39) Y424* probably null Het
Hsd3b7 T A 7: 127,400,717 (GRCm39) I57N probably damaging Het
Ighv10-1 A T 12: 114,442,702 (GRCm39) D94E possibly damaging Het
Ighv3-3 A G 12: 114,160,350 (GRCm39) V20A possibly damaging Het
Kcnh3 G T 15: 99,126,433 (GRCm39) C220F probably benign Het
Kctd16 G A 18: 40,390,101 (GRCm39) probably benign Het
L3mbtl3 T C 10: 26,158,753 (GRCm39) K632E unknown Het
Lama1 G A 17: 68,086,107 (GRCm39) V1449M Het
Lgr6 A G 1: 134,915,740 (GRCm39) I336T possibly damaging Het
Lrp1b A C 2: 40,712,640 (GRCm39) D3117E probably damaging Het
Lrrc4b A T 7: 44,110,722 (GRCm39) E198V possibly damaging Het
Map2 A T 1: 66,454,395 (GRCm39) D1095V possibly damaging Het
Mapk8ip1 A T 2: 92,217,072 (GRCm39) S417T probably damaging Het
Med24 A G 11: 98,609,368 (GRCm39) V94A possibly damaging Het
Megf11 A G 9: 64,593,734 (GRCm39) I637V probably benign Het
Mpp7 C T 18: 7,441,623 (GRCm39) G182D probably damaging Het
Myh15 G A 16: 48,930,775 (GRCm39) G583D probably damaging Het
Naa15 A G 3: 51,380,021 (GRCm39) T750A probably benign Het
Or10d5b C T 9: 39,886,030 (GRCm39) V30I unknown Het
Or10v5 T A 19: 11,805,668 (GRCm39) T241S probably damaging Het
Or1e30 G A 11: 73,678,603 (GRCm39) V280M possibly damaging Het
Pgm1 A T 4: 99,786,851 (GRCm39) Q30L probably benign Het
Pi4kb C T 3: 94,904,245 (GRCm39) R238C probably damaging Het
Plec T C 15: 76,059,527 (GRCm39) E3497G probably damaging Het
Plpp4 C T 7: 128,992,616 (GRCm39) A218V possibly damaging Het
Plxnc1 G A 10: 94,667,392 (GRCm39) A1094V probably damaging Het
Pom121l2 A T 13: 22,166,191 (GRCm39) D154V probably benign Het
Prrt4 G T 6: 29,171,429 (GRCm39) P341Q probably benign Het
Psd3 A G 8: 68,270,697 (GRCm39) V21A possibly damaging Het
Rhot1 T A 11: 80,124,310 (GRCm39) C157* probably null Het
Rnase9 C T 14: 51,276,673 (GRCm39) V102M probably benign Het
Rpgrip1l A C 8: 91,987,426 (GRCm39) M877R probably benign Het
Ryr3 T C 2: 112,705,436 (GRCm39) Y806C probably damaging Het
Smox C T 2: 131,364,031 (GRCm39) A45V possibly damaging Het
Sympk A G 7: 18,771,968 (GRCm39) D344G probably benign Het
Tcf12 G A 9: 71,914,041 (GRCm39) Q76* probably null Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Ttc19 A G 11: 62,204,863 (GRCm39) Y318C probably damaging Het
Vmn2r17 T A 5: 109,600,533 (GRCm39) D610E probably benign Het
Wdr24 A G 17: 26,047,209 (GRCm39) T701A possibly damaging Het
Zfp268 T C 4: 145,347,186 (GRCm39) L30P probably 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
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
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'- GGTTGTGGGAGACATACATTCG -3'
(R):5'- AGCTGACTATCCTACCGCTC -3'

Sequencing Primer
(F):5'- CATTCGAGGAGACTGAGGTCATTAC -3'
(R):5'- GGAGTCTACGTACAGCCATCTTAC -3'
Posted On 2018-11-28