Incidental Mutation 'R0636:Akip1'
ID 56681
Institutional Source Beutler Lab
Gene Symbol Akip1
Ensembl Gene ENSMUSG00000031023
Gene Name A kinase (PRKA) interacting protein 1
Synonyms ORF27, BCA3, ICRFP703B1614Q5.6, D930014E17Rik, ICRFP703N2430Q5.6, D7H11orf17
MMRRC Submission 038825-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0636 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 109703690-109712189 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 109707519 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000033335] [ENSMUST00000106735] [ENSMUST00000143581] [ENSMUST00000207745]
AlphaFold Q9JJR5
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
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 probably benign
Transcript: ENSMUST00000143581
SMART Domains Protein: ENSMUSP00000115021
Gene: ENSMUSG00000031023

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.7%
Validation Efficiency 96% (74/77)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,231,217 (GRCm38) Y264C probably damaging Het
8030423J24Rik T C 13: 70,884,225 (GRCm38) F139L unknown Het
Aco1 A G 4: 40,175,697 (GRCm38) E146G probably damaging Het
Adam2 T G 14: 66,034,816 (GRCm38) D639A probably benign Het
Adh4 G T 3: 138,428,074 (GRCm38) R315L probably damaging Het
Adprhl1 T C 8: 13,248,702 (GRCm38) D76G probably damaging Het
Ap3d1 T A 10: 80,719,382 (GRCm38) K370* probably null Het
Arfgef1 C A 1: 10,199,851 (GRCm38) V358L probably benign Het
Arpp21 A T 9: 112,183,498 (GRCm38) D85E probably benign Het
Azi2 A T 9: 118,062,057 (GRCm38) L383F probably benign Het
Bpgm T A 6: 34,504,287 (GRCm38) D206E probably benign Het
Bsn T C 9: 108,107,834 (GRCm38) D3007G unknown Het
Ccdc142 T G 6: 83,107,198 (GRCm38) probably benign Het
Cep135 T C 5: 76,615,657 (GRCm38) V498A probably benign Het
Cntn6 A T 6: 104,863,148 (GRCm38) Q1003L probably benign Het
Cntnap2 T A 6: 47,296,708 (GRCm38) probably benign Het
Csf2rb2 G A 15: 78,291,960 (GRCm38) Q139* probably null Het
Cyp3a16 A G 5: 145,463,085 (GRCm38) V101A probably benign Het
D630045J12Rik T C 6: 38,196,778 (GRCm38) T152A probably benign Het
Def8 G A 8: 123,454,357 (GRCm38) W176* probably null Het
Dgkg A G 16: 22,579,729 (GRCm38) probably benign Het
Ear10 T C 14: 43,922,994 (GRCm38) probably null Het
Fbxw2 A T 2: 34,822,847 (GRCm38) Y67* probably null Het
Flii T A 11: 60,715,552 (GRCm38) Y1104F probably damaging Het
Gm973 G A 1: 59,551,144 (GRCm38) R270K probably benign Het
Gnl3 T A 14: 31,017,153 (GRCm38) K75N probably damaging Het
Gpc6 A T 14: 117,624,493 (GRCm38) M274L probably benign Het
Ifi47 A G 11: 49,096,651 (GRCm38) E415G possibly damaging Het
Ift57 A G 16: 49,711,896 (GRCm38) T130A probably benign Het
Itpr2 T A 6: 146,171,412 (GRCm38) D2373V probably damaging Het
Kat6a T C 8: 22,939,323 (GRCm38) S1565P possibly damaging Het
Klhl6 A T 16: 19,948,073 (GRCm38) probably benign Het
Klra2 T C 6: 131,220,104 (GRCm38) probably benign Het
Lama5 A G 2: 180,189,331 (GRCm38) probably null Het
Mapk4 A G 18: 73,930,454 (GRCm38) S566P probably benign Het
Mindy4 C A 6: 55,276,585 (GRCm38) R480S possibly damaging Het
Mterf3 T C 13: 66,922,753 (GRCm38) probably benign Het
Mtmr2 A G 9: 13,801,913 (GRCm38) probably null Het
Myef2l T C 3: 10,088,783 (GRCm38) L204P possibly damaging Het
Naip5 T C 13: 100,219,688 (GRCm38) T1140A probably benign Het
Nf1 A G 11: 79,535,703 (GRCm38) T1648A probably damaging Het
Nlk A T 11: 78,695,844 (GRCm38) D141E probably benign Het
Noxa1 C A 2: 25,086,094 (GRCm38) probably benign Het
Or4g16 A G 2: 111,306,412 (GRCm38) N69S probably benign Het
Or5b121 A T 19: 13,530,249 (GRCm38) Y236F possibly damaging Het
Or5p55 T C 7: 107,967,472 (GRCm38) V25A probably benign Het
Otog G A 7: 46,264,228 (GRCm38) probably null Het
Pebp4 T C 14: 70,048,347 (GRCm38) probably benign Het
Phgdh G T 3: 98,333,291 (GRCm38) N100K possibly damaging Het
Pnisr T A 4: 21,873,800 (GRCm38) probably benign Het
Ptpn6 T C 6: 124,725,279 (GRCm38) H346R probably benign Het
Rsf1 T C 7: 97,662,019 (GRCm38) V652A possibly damaging Het
Rubcn G A 16: 32,828,686 (GRCm38) H624Y probably damaging Het
Semp2l2a T C 8: 13,837,870 (GRCm38) R74G probably benign Het
Setdb2 T C 14: 59,406,704 (GRCm38) N656D probably benign Het
Slc22a23 T C 13: 34,299,093 (GRCm38) T268A probably benign Het
Slc3a1 A T 17: 85,032,794 (GRCm38) T215S possibly damaging Het
Srsf2 A G 11: 116,852,078 (GRCm38) S206P probably benign Het
Susd2 T A 10: 75,639,350 (GRCm38) D542V probably damaging Het
Svep1 G A 4: 58,073,121 (GRCm38) Q2063* probably null Het
Syne2 G A 12: 75,930,983 (GRCm38) V1401M possibly damaging Het
Tenm2 A G 11: 36,943,976 (GRCm38) L64P probably damaging Het
Tigd2 A G 6: 59,211,287 (GRCm38) T380A possibly damaging Het
Trmt12 G T 15: 58,873,985 (GRCm38) V411F probably damaging Het
Ubr4 T C 4: 139,436,302 (GRCm38) probably null Het
Ush2a G A 1: 188,822,738 (GRCm38) C3571Y probably benign Het
Usp8 A G 2: 126,720,110 (GRCm38) M75V possibly damaging Het
Vcan C T 13: 89,704,706 (GRCm38) D712N probably damaging Het
Vcan C A 13: 89,712,267 (GRCm38) R327L probably damaging Het
Vps8 A G 16: 21,434,933 (GRCm38) E8G probably benign Het
Washc5 T C 15: 59,359,409 (GRCm38) D335G probably benign Het
Zbtb39 A G 10: 127,742,835 (GRCm38) N426S probably benign Het
Zfp184 T A 13: 21,949,749 (GRCm38) D55E probably damaging Het
Zfp882 T C 8: 71,914,337 (GRCm38) V336A probably benign Het
Other mutations in Akip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01107:Akip1 APN 7 109,711,838 (GRCm38) missense probably damaging 1.00
R0024:Akip1 UTSW 7 109,704,138 (GRCm38) missense probably benign 0.00
R1872:Akip1 UTSW 7 109,711,775 (GRCm38) missense probably damaging 1.00
R3861:Akip1 UTSW 7 109,707,406 (GRCm38) unclassified probably benign
R4172:Akip1 UTSW 7 109,707,509 (GRCm38) nonsense probably null
R4173:Akip1 UTSW 7 109,707,509 (GRCm38) nonsense probably null
R4174:Akip1 UTSW 7 109,707,509 (GRCm38) nonsense probably null
R4548:Akip1 UTSW 7 109,704,986 (GRCm38) nonsense probably null
R4675:Akip1 UTSW 7 109,708,981 (GRCm38) missense possibly damaging 0.95
R4687:Akip1 UTSW 7 109,704,986 (GRCm38) nonsense probably null
R4965:Akip1 UTSW 7 109,711,754 (GRCm38) missense probably damaging 0.99
R5867:Akip1 UTSW 7 109,707,477 (GRCm38) missense probably benign 0.00
R6235:Akip1 UTSW 7 109,707,413 (GRCm38) missense probably benign
R7664:Akip1 UTSW 7 109,708,980 (GRCm38) missense probably benign 0.04
R7743:Akip1 UTSW 7 109,711,828 (GRCm38) missense probably benign
R7878:Akip1 UTSW 7 109,707,402 (GRCm38) missense probably damaging 0.97
R8006:Akip1 UTSW 7 109,703,992 (GRCm38) missense probably damaging 1.00
R8435:Akip1 UTSW 7 109,704,986 (GRCm38) missense unknown
R8474:Akip1 UTSW 7 109,707,490 (GRCm38) missense probably benign 0.02
R9367:Akip1 UTSW 7 109,708,949 (GRCm38) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-07-11