Incidental Mutation 'IGL00948:Gskip'
ID28760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gskip
Ensembl Gene ENSMUSG00000044715
Gene NameGSK3B interacting protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.107) question?
Stock #IGL00948
Quality Score
Status
Chromosome12
Chromosomal Location105684829-105703023 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105698844 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 47 (N47K)
Ref Sequence ENSEMBL: ENSMUSP00000152722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051934] [ENSMUST00000222284]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051934
AA Change: N47K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000057939
Gene: ENSMUSG00000044715
AA Change: N47K

DomainStartEndE-ValueType
Pfam:DUF727 38 138 1.2e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000222284
AA Change: N47K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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 involved as a negative regulator of GSK3-beta in the Wnt signaling pathway. The encoded protein may play a role in the retinoic acid signaling pathway by regulating the functional interactions between GSK3-beta, beta-catenin and cyclin D1, and it regulates the beta-catenin/N-cadherin pool. The encoded protein contains a GSK3-beta interacting domain (GID) in its C-terminus, which is similar to the GID of Axin. The protein also contains an evolutionarily conserved RII-binding domain, which facilitates binding with protein kinase-A and GSK3-beta, enabling its role as an A-kinase anchoring protein. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial lethality between E16.5 and E1.5, complete lethality at birth, cyanosis, primary atelectasis resulting in respiratory failure and cleft secondary palate due to delayed ossification in the upper jaw. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccl2 A T 11: 82,035,732 Q24L possibly damaging Het
Cd33 G A 7: 43,529,558 probably benign Het
Cmya5 T C 13: 93,091,036 I2515V probably benign Het
Cntnap5b A G 1: 100,141,357 T101A probably benign Het
Cyp4a12a T A 4: 115,301,962 M143K probably damaging Het
Ephb4 C A 5: 137,366,659 S663R probably damaging Het
Gm4847 T C 1: 166,630,338 D482G probably benign Het
Kmt2c T C 5: 25,377,161 Y473C probably benign Het
Lrrc7 T A 3: 158,161,557 N849I probably damaging Het
Magel2 T A 7: 62,379,322 V658E unknown Het
Nmral1 C T 16: 4,716,406 G57E probably damaging Het
Olfr801 A T 10: 129,669,887 L211I probably damaging Het
Olfr921 C T 9: 38,775,812 Q186* probably null Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Plrg1 T C 3: 83,068,119 V260A probably damaging Het
Prex2 A G 1: 11,170,614 H982R probably damaging Het
Rbm26 T A 14: 105,150,343 T448S probably damaging Het
Ryr1 C T 7: 29,020,195 M4262I possibly damaging Het
Slc41a3 A T 6: 90,645,714 D441V probably damaging Het
Slc7a2 A G 8: 40,912,524 E448G probably benign Het
Smtnl2 C A 11: 72,411,241 probably null Het
Tox3 G A 8: 90,270,434 P66L probably damaging Het
Vmn1r19 T C 6: 57,405,262 F267L probably benign Het
Vmn2r12 A G 5: 109,097,675 S64P possibly damaging Het
Zfp764 T C 7: 127,405,204 S252G possibly damaging Het
Other mutations in Gskip
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4472001:Gskip UTSW 12 105684862 start gained probably benign
R0525:Gskip UTSW 12 105698965 missense probably damaging 0.97
R2928:Gskip UTSW 12 105700743 missense probably damaging 1.00
R4328:Gskip UTSW 12 105700701 missense probably damaging 1.00
R4648:Gskip UTSW 12 105698729 missense probably benign 0.17
R7607:Gskip UTSW 12 105698897 missense possibly damaging 0.91
Posted On2013-04-17