Incidental Mutation 'R9082:Gskip'
ID 690093
Institutional Source Beutler Lab
Gene Symbol Gskip
Ensembl Gene ENSMUSG00000044715
Gene Name GSK3B interacting protein
Synonyms 4933433P14Rik
MMRRC Submission 068901-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R9082 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 105651611-105669317 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105665009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 16 (S16N)
Ref Sequence ENSEMBL: ENSMUSP00000057939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051934] [ENSMUST00000222284]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051934
AA Change: S16N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000057939
Gene: ENSMUSG00000044715
AA Change: S16N

DomainStartEndE-ValueType
Pfam:DUF727 38 138 1.2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222284
AA Change: S16N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afm G T 5: 90,698,095 (GRCm39) C499F probably damaging Het
Agap2 A G 10: 126,918,911 (GRCm39) E429G probably damaging Het
Ankrd22 A T 19: 34,126,662 (GRCm39) V56D probably damaging Het
Apol11b C T 15: 77,524,771 (GRCm39) E5K possibly damaging Het
Ccdc168 G A 1: 44,099,874 (GRCm39) S408L unknown Het
Cdk4 T A 10: 126,900,732 (GRCm39) L128Q probably damaging Het
Clu T C 14: 66,217,153 (GRCm39) S329P probably damaging Het
Cntnap5c A G 17: 58,637,335 (GRCm39) N1071D probably damaging Het
Col5a1 T C 2: 27,852,122 (GRCm39) S540P possibly damaging Het
Cpne2 A C 8: 95,295,237 (GRCm39) I441L probably benign Het
Ctu2 T C 8: 123,203,952 (GRCm39) S87P probably damaging Het
Dhodh G T 8: 110,322,734 (GRCm39) N211K probably damaging Het
Dtnb G A 12: 3,822,740 (GRCm39) A570T possibly damaging Het
Eif3m A T 2: 104,836,217 (GRCm39) V209E probably damaging Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Fktn T C 4: 53,720,010 (GRCm39) V8A unknown Het
Ftdc1 T C 16: 58,437,294 (GRCm39) R5G probably benign Het
Gcnt1 G T 19: 17,307,559 (GRCm39) S55R probably benign Het
Gm11011 G T 2: 169,426,424 (GRCm39) P63Q Het
Grk5 T C 19: 61,034,567 (GRCm39) I105T possibly damaging Het
Gys1 C A 7: 45,088,917 (GRCm39) N169K probably benign Het
Itgb2 T C 10: 77,384,503 (GRCm39) L208P probably damaging Het
Kcnh7 A G 2: 62,607,878 (GRCm39) C568R probably damaging Het
Krt84 C T 15: 101,440,814 (GRCm39) G126D unknown Het
Lrrc26 T A 2: 25,180,344 (GRCm39) F115Y probably damaging Het
Mul1 T C 4: 138,166,945 (GRCm39) I338T probably damaging Het
Ncam2 T A 16: 81,412,660 (GRCm39) L716H probably damaging Het
Ncoa1 C T 12: 4,346,106 (GRCm39) V414I probably benign Het
Negr1 C A 3: 156,774,876 (GRCm39) C197* probably null Het
Nisch G T 14: 30,899,331 (GRCm39) A438E unknown Het
Nsun5 T C 5: 135,402,828 (GRCm39) L174P probably damaging Het
Obscn A T 11: 58,903,612 (GRCm39) V7454E probably benign Het
Optn A C 2: 5,059,451 (GRCm39) N22K probably damaging Het
Or5k15 C T 16: 58,709,834 (GRCm39) V250M probably damaging Het
Or6d13 G A 6: 116,517,969 (GRCm39) C185Y probably damaging Het
Pcdhb22 A G 18: 37,653,047 (GRCm39) N248S probably damaging Het
Pcnx2 A C 8: 126,613,753 (GRCm39) L566R probably damaging Het
Pdlim5 C T 3: 142,009,163 (GRCm39) V191I possibly damaging Het
Pdzrn3 C T 6: 101,146,094 (GRCm39) probably null Het
Peak1 A T 9: 56,165,504 (GRCm39) I808N probably benign Het
Pomt1 A C 2: 32,142,973 (GRCm39) Y617S probably damaging Het
Ptch2 G A 4: 116,962,297 (GRCm39) probably null Het
Rptn A G 3: 93,302,928 (GRCm39) H87R possibly damaging Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Slc37a4 A G 9: 44,313,016 (GRCm39) T333A probably benign Het
Slc5a7 A G 17: 54,604,139 (GRCm39) V9A probably benign Het
Slc6a20a A G 9: 123,507,832 (GRCm39) F14L possibly damaging Het
Smg7 A T 1: 152,715,928 (GRCm39) M1062K probably damaging Het
Tsc22d4 T C 5: 137,749,509 (GRCm39) Y262H probably damaging Het
Vmn2r83 C T 10: 79,304,894 (GRCm39) H35Y probably benign Het
Zc3h13 CAGAGACCGGGACAGAAGGAGAGAC CAGAGAC 14: 75,569,381 (GRCm39) probably benign Het
Zeb1 C T 18: 5,772,557 (GRCm39) H949Y probably damaging Het
Zfp184 T A 13: 22,143,636 (GRCm39) H447Q probably damaging Het
Zfp551 T C 7: 12,151,004 (GRCm39) E135G 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
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
R9267:Gskip UTSW 12 105,665,052 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGCTTGTGTTGATGCCCACAG -3'
(R):5'- TCTCCACATTGATGTAAGCCAC -3'

Sequencing Primer
(F):5'- TCACTGGGCATCCTAGTAGG -3'
(R):5'- GCCACATCATCTGCACAGGG -3'
Posted On 2021-11-19