Incidental Mutation 'R5867:Akip1'
Institutional Source Beutler Lab
Gene Symbol Akip1
Ensembl Gene ENSMUSG00000031023
Gene NameA kinase (PRKA) interacting protein 1
SynonymsORF27, BCA3, ICRFP703B1614Q5.6, D930014E17Rik, ICRFP703N2430Q5.6, D7H11orf17
MMRRC Submission 043233-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5867 (G1)
Quality Score213
Status Not validated
Chromosomal Location109703690-109712189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 109707477 bp
Amino Acid Change Histidine to Arginine at position 127 (H127R)
Ref Sequence ENSEMBL: ENSMUSP00000033335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000033335] [ENSMUST00000106735] [ENSMUST00000143581] [ENSMUST00000207745]
Predicted Effect probably benign
Transcript: ENSMUST00000033334
SMART Domains Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022

Pfam:DUF4537 85 225 1.1e-41 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000033335
AA Change: H127R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000106735
SMART Domains Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022

Pfam:DUF4537 85 225 6.3e-44 PFAM
low complexity region 258 284 N/A INTRINSIC
low complexity region 334 347 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000143581
AA Change: T132A
SMART Domains Protein: ENSMUSP00000115021
Gene: ENSMUSG00000031023
AA Change: T132A

low complexity region 55 65 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207292
Predicted Effect probably benign
Transcript: ENSMUST00000207745
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that interacts with protein kinase A catalytic subunit, and regulates the effect of the cAMP-dependent protein kinase signaling pathway on the NF-kappa-B activation cascade. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 9,010,052 V2900A probably damaging Het
Alad A T 4: 62,512,966 Y56N probably damaging Het
Aldoart1 T A 4: 72,852,533 M13L probably benign Het
Ap1g1 C T 8: 109,818,982 A89V probably damaging Het
Ascc3 C T 10: 50,842,183 R1991* probably null Het
Cd209b T C 8: 3,924,246 I89V possibly damaging Het
Cd36 T C 5: 17,785,735 K469R probably benign Het
Cdh7 T A 1: 110,048,851 I82N probably damaging Het
Clmn G T 12: 104,781,755 P511H probably damaging Het
Cyfip1 A C 7: 55,926,313 D1077A probably damaging Het
Cyp2a5 T C 7: 26,842,958 F462L probably benign Het
Dclk2 A G 3: 86,791,859 *709Q probably null Het
Drd1 T C 13: 54,054,163 T4A probably benign Het
Ephb2 C T 4: 136,675,422 V513I possibly damaging Het
Fam43a T A 16: 30,601,459 V287E probably benign Het
Gm5134 A G 10: 76,008,616 E602G probably benign Het
Gtsf2 C T 15: 103,439,636 G149E probably benign Het
Kif20a G A 18: 34,632,415 A822T probably benign Het
Klhl6 T C 16: 19,982,820 T62A probably benign Het
Lamb1 T A 12: 31,298,955 I662N possibly damaging Het
Lmod3 A G 6: 97,248,002 V286A probably damaging Het
Mefv T C 16: 3,715,933 D158G probably damaging Het
Mff T C 1: 82,750,606 probably null Het
Mfsd6l G T 11: 68,557,210 V296L possibly damaging Het
Neu2 G T 1: 87,596,756 Q154H probably damaging Het
Olfr1033 A G 2: 86,041,451 I45M probably benign Het
Pdk4 T A 6: 5,487,452 H266L probably benign Het
Pdrg1 T C 2: 153,014,055 N40D probably damaging Het
Pi4k2a T C 19: 42,105,485 probably null Het
Pkd1l2 T A 8: 117,055,011 D765V probably damaging Het
Pspc1 A T 14: 56,762,041 probably null Het
Ptprm T C 17: 67,045,981 probably null Het
Spata31d1d T C 13: 59,727,240 K827R possibly damaging Het
Srebf2 T A 15: 82,169,786 F46Y probably damaging Het
Tfrc T A 16: 32,620,412 C365S possibly damaging Het
Ttc7 A G 17: 87,322,472 H294R possibly damaging Het
Ubr7 T A 12: 102,761,494 Y92N probably damaging Het
Vmn1r42 A C 6: 89,844,779 Y269* probably null Het
Vmn2r1 A G 3: 64,104,569 E617G probably benign Het
Vps13c A G 9: 67,982,622 probably null Het
Vps50 T C 6: 3,536,965 L312P probably damaging Het
Wdr82 A G 9: 106,185,304 Q252R probably benign Het
Zcchc3 A G 2: 152,414,524 F85S probably damaging Het
Zfhx3 T C 8: 108,793,446 L400P probably damaging Het
Other mutations in Akip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Akip1 APN 7 109711838 missense probably damaging 1.00
R0024:Akip1 UTSW 7 109704138 missense probably benign 0.00
R0636:Akip1 UTSW 7 109707519 unclassified probably benign
R1872:Akip1 UTSW 7 109711775 missense probably damaging 1.00
R3861:Akip1 UTSW 7 109707406 unclassified probably benign
R4172:Akip1 UTSW 7 109707509 nonsense probably null
R4173:Akip1 UTSW 7 109707509 nonsense probably null
R4174:Akip1 UTSW 7 109707509 nonsense probably null
R4548:Akip1 UTSW 7 109704986 nonsense probably null
R4675:Akip1 UTSW 7 109708981 missense possibly damaging 0.95
R4687:Akip1 UTSW 7 109704986 nonsense probably null
R4965:Akip1 UTSW 7 109711754 missense probably damaging 0.99
R6235:Akip1 UTSW 7 109707413 missense probably benign
R7664:Akip1 UTSW 7 109708980 missense probably benign 0.04
R7743:Akip1 UTSW 7 109711828 missense probably benign
R7878:Akip1 UTSW 7 109707402 missense probably damaging 0.97
R8006:Akip1 UTSW 7 109703992 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2017-02-10