Incidental Mutation 'IGL00503:Akap17b'
ID 332473
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap17b
Ensembl Gene ENSMUSG00000059708
Gene Name A kinase anchor protein 17B
Synonyms Srsf17b, C230056F04Rik, Sfrs17b, Talia, B230333C21Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00503
Quality Score
Status
Chromosome X
Chromosomal Location 35871967-35909048 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35875963 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold A2A3V1
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: 69,083,173 (GRCm39) R14* probably null Het
Abcb5 A G 12: 118,871,336 (GRCm39) S688P probably benign Het
Adgb T A 10: 10,281,843 (GRCm39) Q597L possibly damaging Het
Aga G A 8: 53,971,956 (GRCm39) V210I probably benign Het
Brinp3 A T 1: 146,776,905 (GRCm39) T451S probably benign Het
Cabcoco1 G T 10: 68,377,635 (GRCm39) T18N possibly damaging Het
Ccar2 C T 14: 70,379,980 (GRCm39) W402* probably null Het
Ccdc15 G A 9: 37,231,769 (GRCm39) A185V probably damaging Het
Ccdc50 G A 16: 27,228,102 (GRCm39) E90K probably damaging Het
Cckbr G A 7: 105,083,449 (GRCm39) M217I probably benign Het
Clec16a A G 16: 10,512,513 (GRCm39) T398A possibly damaging Het
Col4a1 A G 8: 11,290,076 (GRCm39) probably benign Het
Cyp4v3 T A 8: 45,760,058 (GRCm39) E498V probably damaging Het
Dgke T C 11: 88,932,327 (GRCm39) I488V probably benign Het
Dip2c A G 13: 9,617,934 (GRCm39) D443G probably damaging Het
Edem3 T G 1: 151,694,264 (GRCm39) S852A probably benign Het
Fbxo8 T A 8: 57,041,058 (GRCm39) M158K probably benign Het
Galnt15 C T 14: 31,774,313 (GRCm39) T359M possibly damaging Het
Herc6 A G 6: 57,584,130 (GRCm39) N330D probably benign Het
Kdf1 T C 4: 133,255,468 (GRCm39) S62P probably damaging Het
Larp4 T A 15: 99,885,302 (GRCm39) I51N probably damaging Het
Mfsd6l T A 11: 68,447,299 (GRCm39) I50N probably damaging Het
Mroh2b A G 15: 4,928,679 (GRCm39) Y4C probably benign Het
Muc17 G T 5: 137,165,971 (GRCm39) Y343* probably null Het
Myom2 A C 8: 15,164,289 (GRCm39) probably null Het
Npat A T 9: 53,483,949 (GRCm39) probably benign Het
Pamr1 A T 2: 102,472,617 (GRCm39) I639F possibly damaging Het
Pcsk2 A G 2: 143,635,159 (GRCm39) S345G probably damaging Het
Pcyt1a A G 16: 32,285,919 (GRCm39) T197A probably damaging Het
Pkd1 A G 17: 24,784,401 (GRCm39) M316V probably benign Het
Plekhs1 T C 19: 56,453,031 (GRCm39) probably null Het
Sema3e G T 5: 14,290,586 (GRCm39) R557M probably damaging Het
Sgsm1 T C 5: 113,424,008 (GRCm39) N154S probably benign Het
Smg1 A T 7: 117,784,706 (GRCm39) probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spats1 A T 17: 45,765,011 (GRCm39) probably null Het
Tnfaip6 T G 2: 51,945,859 (GRCm39) V235G probably damaging Het
Trim34a A T 7: 103,910,538 (GRCm39) T447S probably damaging Het
Tut1 G A 19: 8,936,460 (GRCm39) A95T probably damaging Het
Urgcp C T 11: 5,666,448 (GRCm39) R630Q possibly damaging Het
Vmn1r125 G T 7: 21,006,106 (GRCm39) M1I probably null Het
Vmn2r99 A G 17: 19,599,116 (GRCm39) T267A probably benign Het
Wdr5 A G 2: 27,410,879 (GRCm39) K162E probably benign Het
Zscan26 T G 13: 21,629,271 (GRCm39) K285Q probably damaging Het
Other mutations in Akap17b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Akap17b APN X 35,875,503 (GRCm39) missense probably damaging 0.99
Posted On 2015-08-05