Incidental Mutation 'IGL00948:Gskip'
ID 28760
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gskip
Ensembl Gene ENSMUSG00000044715
Gene Name GSK3B interacting protein
Synonyms 4933433P14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # IGL00948
Quality Score
Status
Chromosome 12
Chromosomal Location 105651611-105669317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 105665103 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 81,926,558 (GRCm39) Q24L possibly damaging Het
Cd33 G A 7: 43,178,982 (GRCm39) probably benign Het
Cmya5 T C 13: 93,227,544 (GRCm39) I2515V probably benign Het
Cntnap5b A G 1: 100,069,082 (GRCm39) T101A probably benign Het
Cyp4a12a T A 4: 115,159,159 (GRCm39) M143K probably damaging Het
Ephb4 C A 5: 137,364,921 (GRCm39) S663R probably damaging Het
Gm4847 T C 1: 166,457,907 (GRCm39) D482G probably benign Het
Kmt2c T C 5: 25,582,159 (GRCm39) Y473C probably benign Het
Lrrc7 T A 3: 157,867,194 (GRCm39) N849I probably damaging Het
Magel2 T A 7: 62,029,070 (GRCm39) V658E unknown Het
Nmral1 C T 16: 4,534,270 (GRCm39) G57E probably damaging Het
Or6c211 A T 10: 129,505,756 (GRCm39) L211I probably damaging Het
Or8b54 C T 9: 38,687,108 (GRCm39) Q186* probably null Het
Padi3 C A 4: 140,516,254 (GRCm39) R542L possibly damaging Het
Plrg1 T C 3: 82,975,426 (GRCm39) V260A probably damaging Het
Prex2 A G 1: 11,240,838 (GRCm39) H982R probably damaging Het
Rbm26 T A 14: 105,387,779 (GRCm39) T448S probably damaging Het
Ryr1 C T 7: 28,719,620 (GRCm39) M4262I possibly damaging Het
Slc41a3 A T 6: 90,622,696 (GRCm39) D441V probably damaging Het
Slc7a2 A G 8: 41,365,561 (GRCm39) E448G probably benign Het
Smtnl2 C A 11: 72,302,067 (GRCm39) probably null Het
Tox3 G A 8: 90,997,062 (GRCm39) P66L probably damaging Het
Vmn1r19 T C 6: 57,382,247 (GRCm39) F267L probably benign Het
Vmn2r12 A G 5: 109,245,541 (GRCm39) S64P possibly damaging Het
Zfp764 T C 7: 127,004,376 (GRCm39) S252G possibly damaging Het
Other mutations in Gskip
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4472001:Gskip UTSW 12 105,651,121 (GRCm39) start gained probably benign
R0525:Gskip UTSW 12 105,665,224 (GRCm39) missense probably damaging 0.97
R2928:Gskip UTSW 12 105,667,002 (GRCm39) missense probably damaging 1.00
R4328:Gskip UTSW 12 105,666,960 (GRCm39) missense probably damaging 1.00
R4648:Gskip UTSW 12 105,664,988 (GRCm39) missense probably benign 0.17
R7607:Gskip UTSW 12 105,665,156 (GRCm39) missense possibly damaging 0.91
R9082:Gskip UTSW 12 105,665,009 (GRCm39) missense probably benign
R9267:Gskip UTSW 12 105,665,052 (GRCm39) missense probably benign 0.00
Posted On 2013-04-17