Incidental Mutation 'IGL01107:Akip1'
ID51554
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akip1
Ensembl Gene ENSMUSG00000031023
Gene NameA kinase (PRKA) interacting protein 1
SynonymsORF27, BCA3, ICRFP703B1614Q5.6, D930014E17Rik, ICRFP703N2430Q5.6, D7H11orf17
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01107
Quality Score
Status
Chromosome7
Chromosomal Location109703690-109712189 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 109711838 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 195 (T195M)
Ref Sequence ENSEMBL: ENSMUSP00000033335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033334] [ENSMUST00000033335] [ENSMUST00000106735] [ENSMUST00000143581] [ENSMUST00000145211]
Predicted Effect probably benign
Transcript: ENSMUST00000033334
SMART Domains Protein: ENSMUSP00000033334
Gene: ENSMUSG00000031022

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000033335
AA Change: T195M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000106735
SMART Domains Protein: ENSMUSP00000102346
Gene: ENSMUSG00000031022

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 55 65 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000145211
SMART Domains Protein: ENSMUSP00000115006
Gene: ENSMUSG00000031022

DomainStartEndE-ValueType
Pfam:DUF4537 24 77 8.3e-12 PFAM
low complexity region 110 136 N/A INTRINSIC
low complexity region 186 199 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147497
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,797,936 F215Y probably damaging Het
2700049A03Rik T C 12: 71,194,468 probably null Het
Arhgef16 T C 4: 154,280,244 N631S probably benign Het
Brat1 C T 5: 140,717,177 S544L probably damaging Het
Cfap65 C T 1: 74,919,183 probably null Het
D17Wsu92e A T 17: 27,786,069 probably null Het
Defa22 T A 8: 21,163,037 probably null Het
Dnajc4 C T 19: 6,989,501 R153H probably benign Het
Dusp11 A G 6: 85,952,370 probably benign Het
E2f4 T A 8: 105,304,177 probably benign Het
Ece1 T A 4: 137,938,658 L271Q probably damaging Het
Fcgrt T C 7: 45,093,328 D343G probably damaging Het
Igsf10 T C 3: 59,331,524 E412G probably damaging Het
Il4ra G T 7: 125,575,914 L431F possibly damaging Het
Krt86 T A 15: 101,475,425 L200Q probably damaging Het
Lpcat1 T A 13: 73,494,828 F126I probably damaging Het
Prag1 A G 8: 36,099,931 T79A probably benign Het
Pramef12 A T 4: 144,393,094 I301N probably benign Het
Psg29 G T 7: 17,204,925 L41F probably benign Het
Rai14 C T 15: 10,599,711 probably benign Het
Reg3a A G 6: 78,383,245 D136G probably benign Het
Rif1 A G 2: 52,111,303 T1590A probably benign Het
Rorb A T 19: 18,957,328 L300* probably null Het
Sin3b T C 8: 72,731,105 C150R possibly damaging Het
Smarcc1 C A 9: 110,221,937 H942N probably damaging Het
Tas2r105 A G 6: 131,687,111 V118A probably benign Het
Tmem131 T C 1: 36,829,581 S388G probably damaging Het
Ttll9 C A 2: 153,002,889 probably benign Het
Ush1c A G 7: 46,209,901 L498P probably damaging Het
Vmn2r100 A G 17: 19,521,356 Y110C probably damaging Het
Zbtb11 T C 16: 56,006,007 Y800H probably damaging Het
Zdhhc20 T A 14: 57,865,589 E101V probably damaging Het
Other mutations in Akip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5867:Akip1 UTSW 7 109707477 missense probably benign 0.00
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
R8435:Akip1 UTSW 7 109704986 missense unknown
R8474:Akip1 UTSW 7 109707490 missense probably benign 0.02
Posted On2013-06-21