Incidental Mutation 'R2928:Gskip'
ID 254935
Institutional Source Beutler Lab
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 # R2928 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 105651611-105669317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105667002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 127 (F127I)
Ref Sequence ENSEMBL: ENSMUSP00000057939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051934] [ENSMUST00000222284]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000051934
AA Change: F127I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057939
Gene: ENSMUSG00000044715
AA Change: F127I

DomainStartEndE-ValueType
Pfam:DUF727 38 138 1.2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222284
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
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: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,522,057 (GRCm39) K167R probably damaging Het
Brpf1 T C 6: 113,299,007 (GRCm39) V1127A possibly damaging Het
Cept1 G A 3: 106,438,468 (GRCm39) T205I probably benign Het
Cpd T C 11: 76,737,200 (GRCm39) D198G probably benign Het
Csad A G 15: 102,086,139 (GRCm39) F464S probably damaging Het
Fcrl1 A G 3: 87,298,564 (GRCm39) N353S probably benign Het
Glb1l2 A T 9: 26,679,722 (GRCm39) M410K probably benign Het
Iqgap2 T C 13: 95,818,744 (GRCm39) T671A probably benign Het
Or5aq7 A T 2: 86,938,107 (GRCm39) I208N possibly damaging Het
Tmem260 T C 14: 48,724,207 (GRCm39) F352L probably damaging Het
Vmn2r22 T C 6: 123,614,402 (GRCm39) N396S probably damaging Het
Other mutations in Gskip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Gskip APN 12 105,665,103 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GAAACGGTGTCACTGCACAAG -3'
(R):5'- CAAAAGCCTGCGTGTGAAG -3'

Sequencing Primer
(F):5'- CTGCACAAGCCCTTCAGG -3'
(R):5'- CCTGCGTGTGAAGGAATGGC -3'
Posted On 2014-12-29