Incidental Mutation 'IGL00503:Akap17b'
ID332473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap17b
Ensembl Gene ENSMUSG00000059708
Gene NameA kinase (PRKA) anchor protein 17B
SynonymsTalia, Sfrs17b, C230056F04Rik, Srsf17b, B230333C21Rik
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00503
Quality Score
Status
ChromosomeX
Chromosomal Location36608314-36645395 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 36612310 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 515 (S515P)
Ref Sequence ENSEMBL: ENSMUSP00000052042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051906] [ENSMUST00000133980]
Predicted Effect probably damaging
Transcript: ENSMUST00000051906
AA Change: S515P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052042
Gene: ENSMUSG00000059708
AA Change: S515P

DomainStartEndE-ValueType
SCOP:d1u2fa_ 169 258 7e-6 SMART
coiled coil region 261 334 N/A INTRINSIC
low complexity region 353 369 N/A INTRINSIC
low complexity region 462 484 N/A INTRINSIC
low complexity region 845 854 N/A INTRINSIC
low complexity region 942 955 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000133980
AA Change: S263P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123406
Gene: ENSMUSG00000059708
AA Change: S263P

DomainStartEndE-ValueType
coiled coil region 9 82 N/A INTRINSIC
low complexity region 101 117 N/A INTRINSIC
low complexity region 210 232 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male chimeras hemizygous for a gene trapped allele are developmentally delayed and display failure of chorioallantoic fusion, a posterior truncation, neural tube defects, and impaired somite development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 68,950,102 R14* probably null Het
Abcb5 A G 12: 118,907,601 S688P probably benign Het
Adgb T A 10: 10,406,099 Q597L possibly damaging Het
Aga G A 8: 53,518,921 V210I probably benign Het
Brinp3 A T 1: 146,901,167 T451S probably benign Het
Cabcoco1 G T 10: 68,541,805 T18N possibly damaging Het
Ccar2 C T 14: 70,142,531 W402* probably null Het
Ccdc15 G A 9: 37,320,473 A185V probably damaging Het
Ccdc50 G A 16: 27,409,352 E90K probably damaging Het
Cckbr G A 7: 105,434,242 M217I probably benign Het
Clec16a A G 16: 10,694,649 T398A possibly damaging Het
Col4a1 A G 8: 11,240,076 probably benign Het
Cyp4v3 T A 8: 45,307,021 E498V probably damaging Het
Dgke T C 11: 89,041,501 I488V probably benign Het
Dip2c A G 13: 9,567,898 D443G probably damaging Het
Edem3 T G 1: 151,818,513 S852A probably benign Het
Fbxo8 T A 8: 56,588,023 M158K probably benign Het
Galnt15 C T 14: 32,052,356 T359M possibly damaging Het
Herc6 A G 6: 57,607,145 N330D probably benign Het
Kdf1 T C 4: 133,528,157 S62P probably damaging Het
Larp4 T A 15: 99,987,421 I51N probably damaging Het
Mfsd6l T A 11: 68,556,473 I50N probably damaging Het
Mroh2b A G 15: 4,899,197 Y4C probably benign Het
Muc3 G T 5: 137,137,123 Y343* probably null Het
Myom2 A C 8: 15,114,289 probably null Het
Npat A T 9: 53,572,649 probably benign Het
Pamr1 A T 2: 102,642,272 I639F possibly damaging Het
Pcsk2 A G 2: 143,793,239 S345G probably damaging Het
Pcyt1a A G 16: 32,467,101 T197A probably damaging Het
Pkd1 A G 17: 24,565,427 M316V probably benign Het
Plekhs1 T C 19: 56,464,599 probably null Het
Sema3e G T 5: 14,240,572 R557M probably damaging Het
Sgsm1 T C 5: 113,276,142 N154S probably benign Het
Smg1 A T 7: 118,185,483 probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spats1 A T 17: 45,454,085 probably null Het
Tnfaip6 T G 2: 52,055,847 V235G probably damaging Het
Trim34a A T 7: 104,261,331 T447S probably damaging Het
Tut1 G A 19: 8,959,096 A95T probably damaging Het
Urgcp C T 11: 5,716,448 R630Q possibly damaging Het
Vmn1r125 G T 7: 21,272,181 M1I probably null Het
Vmn2r99 A G 17: 19,378,854 T267A probably benign Het
Wdr5 A G 2: 27,520,867 K162E probably benign Het
Zscan26 T G 13: 21,445,101 K285Q probably damaging Het
Other mutations in Akap17b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Akap17b APN X 36611850 missense probably damaging 0.99
Posted On2015-08-05