Incidental Mutation 'IGL01556:Gkap1'
ID 90721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gkap1
Ensembl Gene ENSMUSG00000021552
Gene Name G kinase anchoring protein 1
Synonyms 4933400B15Rik, 42kDa, D13Ertd340e, Gkap42
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01556
Quality Score
Status
Chromosome 13
Chromosomal Location 58381160-58422691 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58411106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 89 (I89N)
Ref Sequence ENSEMBL: ENSMUSP00000089169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091579] [ENSMUST00000223811] [ENSMUST00000224505] [ENSMUST00000225034]
AlphaFold Q9JMB0
Predicted Effect probably benign
Transcript: ENSMUST00000091579
AA Change: I89N

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000089169
Gene: ENSMUSG00000021552
AA Change: I89N

DomainStartEndE-ValueType
coiled coil region 47 80 N/A INTRINSIC
coiled coil region 128 157 N/A INTRINSIC
coiled coil region 243 299 N/A INTRINSIC
coiled coil region 321 352 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223811
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224114
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224273
Predicted Effect probably benign
Transcript: ENSMUST00000224505
Predicted Effect probably benign
Transcript: ENSMUST00000225034
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 protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,571,741 (GRCm39) I81V probably benign Het
Aoc1l1 A C 6: 48,952,618 (GRCm39) D181A possibly damaging Het
Armc3 T A 2: 19,273,957 (GRCm39) D330E probably damaging Het
Atp6v0b A G 4: 117,743,062 (GRCm39) F49S probably damaging Het
Atp8b3 A C 10: 80,366,802 (GRCm39) Y265* probably null Het
Cby2 A G 14: 75,821,551 (GRCm39) F16S probably damaging Het
Cdh11 A G 8: 103,406,276 (GRCm39) Y66H probably damaging Het
Cntn5 T A 9: 9,673,913 (GRCm39) M730L probably benign Het
Cntrl A G 2: 35,063,071 (GRCm39) T1556A probably benign Het
Dixdc1 A G 9: 50,617,434 (GRCm39) S128P probably damaging Het
Egfr T C 11: 16,855,382 (GRCm39) L889S probably damaging Het
F830045P16Rik A G 2: 129,305,640 (GRCm39) Y245H probably benign Het
Fam124a G A 14: 62,825,181 (GRCm39) C225Y probably damaging Het
Frem2 T C 3: 53,442,702 (GRCm39) T2612A probably benign Het
Gm8247 A T 14: 44,823,811 (GRCm39) K75* probably null Het
Gpi-ps A G 8: 5,689,833 (GRCm39) noncoding transcript Het
Hdac11 T A 6: 91,150,162 (GRCm39) H320Q probably benign Het
Iyd A G 10: 3,497,091 (GRCm39) I149V probably benign Het
Krtap4-6 T A 11: 99,556,676 (GRCm39) Q17L unknown Het
Lrrc24 T A 15: 76,606,775 (GRCm39) D207V probably damaging Het
Mfsd12 G A 10: 81,198,858 (GRCm39) C425Y probably damaging Het
Muc5b A G 7: 141,416,977 (GRCm39) T3308A probably benign Het
Myo18b A G 5: 112,905,315 (GRCm39) probably benign Het
Ndufa6 C T 15: 82,238,282 (GRCm39) V50M possibly damaging Het
Nin A G 12: 70,089,962 (GRCm39) V1151A probably benign Het
Nrf1 A G 6: 30,126,366 (GRCm39) probably benign Het
Pcdhb20 T C 18: 37,637,852 (GRCm39) I126T possibly damaging Het
Pdgfra G T 5: 75,338,352 (GRCm39) L535F probably damaging Het
Pkn2 A T 3: 142,535,078 (GRCm39) I212K possibly damaging Het
Slc5a9 T A 4: 111,755,833 (GRCm39) T22S probably benign Het
Slitrk1 A G 14: 109,150,450 (GRCm39) L87S probably damaging Het
Syne2 C A 12: 76,134,589 (GRCm39) R29S probably damaging Het
Zc3h12b C A X: 94,970,721 (GRCm39) F551L probably damaging Het
Zfp664 C A 5: 124,963,252 (GRCm39) C215* probably null Het
Other mutations in Gkap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Gkap1 APN 13 58,384,853 (GRCm39) missense probably damaging 1.00
IGL03134:Gkap1 APN 13 58,411,746 (GRCm39) unclassified probably benign
R1263:Gkap1 UTSW 13 58,403,587 (GRCm39) missense probably benign 0.03
R1750:Gkap1 UTSW 13 58,384,857 (GRCm39) nonsense probably null
R4672:Gkap1 UTSW 13 58,411,770 (GRCm39) missense possibly damaging 0.70
R5165:Gkap1 UTSW 13 58,411,010 (GRCm39) critical splice donor site probably null
R7639:Gkap1 UTSW 13 58,411,784 (GRCm39) missense probably damaging 0.99
R7721:Gkap1 UTSW 13 58,384,799 (GRCm39) critical splice donor site probably null
R7775:Gkap1 UTSW 13 58,398,966 (GRCm39) missense probably benign 0.09
R8519:Gkap1 UTSW 13 58,386,506 (GRCm39) missense probably damaging 1.00
R8672:Gkap1 UTSW 13 58,391,662 (GRCm39) missense probably damaging 0.99
Posted On 2013-12-09