Incidental Mutation 'PIT4472001:Gskip'
ID 555878
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: 0.160) question?
Stock # PIT4472001 (G1)
Quality Score 217.009
Status Not validated
Chromosome 12
Chromosomal Location 105651611-105669317 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 105651121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041055] [ENSMUST00000051934] [ENSMUST00000222284]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041055
SMART Domains Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341

DomainStartEndE-ValueType
Pfam:Chorein_N 11 127 3.5e-19 PFAM
low complexity region 286 298 N/A INTRINSIC
low complexity region 409 428 N/A INTRINSIC
low complexity region 864 870 N/A INTRINSIC
low complexity region 893 904 N/A INTRINSIC
low complexity region 1722 1733 N/A INTRINSIC
Pfam:ATG_C 1976 2071 1.4e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051934
SMART Domains Protein: ENSMUSP00000057939
Gene: ENSMUSG00000044715

DomainStartEndE-ValueType
Pfam:DUF727 38 138 1.2e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222284
Coding Region Coverage
  • 1x: 93.7%
  • 3x: 90.8%
  • 10x: 84.2%
  • 20x: 70.1%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt C A 9: 99,502,613 (GRCm39) P258T probably damaging Het
Arvcf T C 16: 18,221,699 (GRCm39) V714A possibly damaging Het
Bcas3 A G 11: 85,422,726 (GRCm39) I532V probably damaging Het
Cbr1 T A 16: 93,406,692 (GRCm39) V136E probably damaging Het
Ccdc27 T C 4: 154,126,184 (GRCm39) M102V unknown Het
Ccr1 T C 9: 123,763,765 (GRCm39) Y255C probably damaging Het
Cd300e T A 11: 114,945,336 (GRCm39) I153F possibly damaging Het
Chd7 C T 4: 8,753,101 (GRCm39) L533F unknown Het
Cpvl A T 6: 53,873,464 (GRCm39) F424Y possibly damaging Het
Cxcl16 C T 11: 70,349,625 (GRCm39) G80R probably damaging Het
Cyp2g1 T C 7: 26,513,619 (GRCm39) V186A probably benign Het
Cyp4f15 T A 17: 32,921,798 (GRCm39) M490K probably damaging Het
D630045J12Rik A T 6: 38,155,774 (GRCm39) V1160D probably damaging Het
Dennd2b G A 7: 109,130,337 (GRCm39) A888V probably damaging Het
Fbn1 T C 2: 125,148,421 (GRCm39) D2609G possibly damaging Het
Fgf5 T A 5: 98,409,838 (GRCm39) V129E probably damaging Het
Fhl5 C A 4: 25,211,194 (GRCm39) C166F probably damaging Het
Frem1 G A 4: 82,890,374 (GRCm39) T1035I probably benign Het
Gcnt2 G A 13: 41,071,413 (GRCm39) V19M probably benign Het
Gga1 C A 15: 78,777,836 (GRCm39) A595D probably damaging Het
Gpaa1 C T 15: 76,218,940 (GRCm39) T594I probably benign Het
Ighv1-72 A G 12: 115,721,620 (GRCm39) V112A probably damaging Het
Krt16 T A 11: 100,138,732 (GRCm39) T185S probably benign Het
Lama1 T C 17: 68,071,699 (GRCm39) V862A Het
Lats2 A C 14: 57,936,814 (GRCm39) Y558* probably null Het
Mast4 G A 13: 102,941,226 (GRCm39) T277M probably damaging Het
Mnx1 T C 5: 29,679,105 (GRCm39) E326G unknown Het
Mtmr10 A G 7: 63,983,106 (GRCm39) E471G probably benign Het
Or5p64 C T 7: 107,855,310 (GRCm39) V12M possibly damaging Het
Otog G A 7: 45,945,273 (GRCm39) V2177M probably damaging Het
Ovgp1 A G 3: 105,894,306 (GRCm39) E693G unknown Het
Pclo T C 5: 14,763,182 (GRCm39) M600T possibly damaging Het
Pdgfra T A 5: 75,340,907 (GRCm39) M622K probably damaging Het
Pdxdc1 A G 16: 13,663,209 (GRCm39) L428P probably damaging Het
Pfkfb4 T C 9: 108,828,222 (GRCm39) Y86H probably benign Het
Pik3cg A G 12: 32,254,983 (GRCm39) Y335H probably damaging Het
Podnl1 G A 8: 84,854,477 (GRCm39) V150M Het
Pou4f3 A G 18: 42,527,717 (GRCm39) M4V probably benign Het
Ppp1r13b G A 12: 111,799,074 (GRCm39) R864C probably damaging Het
R3hdm4 A G 10: 79,749,389 (GRCm39) probably null Het
Skil T A 3: 31,152,381 (GRCm39) V301D probably damaging Het
Sptb G A 12: 76,667,460 (GRCm39) T879M probably damaging Het
Strip1 G A 3: 107,535,486 (GRCm39) A79V probably benign Het
Tpgs2 G A 18: 25,301,652 (GRCm39) T5M possibly damaging Het
Trim34a T A 7: 103,897,155 (GRCm39) L73Q probably damaging Het
Trpv4 T A 5: 114,764,984 (GRCm39) T677S probably damaging Het
Vmn2r23 A G 6: 123,689,936 (GRCm39) T271A possibly damaging Het
Other mutations in Gskip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Gskip APN 12 105,665,103 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- CTTACCCATTTGTCCAAGGGG -3'
(R):5'- CAACAAATTAGTCGCGCCG -3'

Sequencing Primer
(F):5'- AGCTTCTCCTGCAGGAA -3'
(R):5'- GGAGTCTTGTCTCGCCTCAG -3'
Posted On 2019-06-07