Incidental Mutation 'IGL03090:Pomk'
ID418331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pomk
Ensembl Gene ENSMUSG00000037251
Gene Nameprotein-O-mannose kinase
SynonymsSgk196, 4930444A02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.370) question?
Stock #IGL03090
Quality Score
Status
Chromosome8
Chromosomal Location25980604-25994133 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25983310 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 205 (N205I)
Ref Sequence ENSEMBL: ENSMUSP00000053802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061850]
Predicted Effect probably damaging
Transcript: ENSMUST00000061850
AA Change: N205I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053802
Gene: ENSMUSG00000037251
AA Change: N205I

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Pkinase 80 207 2e-6 PFAM
Pfam:Pkinase_Tyr 80 215 5.9e-11 PFAM
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 may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trap insertion show hydrocephaly and cerebellar dysplasia. Mice also show learning defects, impaired motor strength and decreased sensitivity to pain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 40,794,928 Y25C probably benign Het
Agap3 A C 5: 24,501,206 T823P possibly damaging Het
Arap3 T C 18: 37,989,112 E641G probably benign Het
Armc6 C T 8: 70,231,354 R16Q probably benign Het
Asb15 T A 6: 24,567,186 I502K possibly damaging Het
Atp8b3 T A 10: 80,530,604 N275I probably damaging Het
BC022687 T C 12: 112,815,720 probably null Het
Calr G A 8: 84,846,744 P19S possibly damaging Het
Cdc6 T A 11: 98,919,296 L477* probably null Het
Cnnm4 A G 1: 36,471,871 D60G probably benign Het
Col12a1 G T 9: 79,678,370 Q1242K probably damaging Het
Dusp18 T A 11: 3,897,466 I152N probably damaging Het
Eef1akmt1 T C 14: 57,558,086 T69A probably damaging Het
Efhb T C 17: 53,462,930 Q117R probably benign Het
Fancd2 T A 6: 113,537,597 probably null Het
Fat3 C T 9: 16,377,239 W329* probably null Het
Frem3 A G 8: 80,618,229 Y1727C probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gatb C A 3: 85,619,023 probably benign Het
Gpr33 A T 12: 52,024,026 S77T probably damaging Het
Gramd1c A T 16: 43,982,100 D649E probably benign Het
Herc2 T A 7: 56,204,473 L3745H probably damaging Het
Klk11 T A 7: 43,777,553 M87K probably benign Het
Krt39 T G 11: 99,519,007 probably benign Het
Lamc3 T A 2: 31,908,698 probably benign Het
Lars2 T G 9: 123,455,960 M786R probably damaging Het
Lmcd1 T A 6: 112,310,499 S49T probably benign Het
Lrba T C 3: 86,773,141 Y2689H probably benign Het
Map3k6 T C 4: 133,243,366 V188A probably benign Het
Mbd6 A C 10: 127,287,144 L49W probably damaging Het
Myo5a A T 9: 75,120,833 Y100F probably damaging Het
Myo9a T A 9: 59,894,135 probably benign Het
Ncoa7 T C 10: 30,662,400 D663G probably damaging Het
Nup214 A T 2: 32,018,242 M1075L probably benign Het
Pkd1l3 C A 8: 109,655,533 Y240* probably null Het
Sdr16c5 A G 4: 4,006,575 probably benign Het
Setd1a A G 7: 127,786,500 E250G possibly damaging Het
Slc26a6 A G 9: 108,860,691 E541G probably benign Het
Slc4a3 A G 1: 75,555,017 E876G probably benign Het
Srrm4 A G 5: 116,449,584 probably benign Het
Stx12 A G 4: 132,863,229 V119A probably benign Het
Tmem8b T A 4: 43,689,721 S333T probably damaging Het
Usp31 T C 7: 121,679,530 probably benign Het
Utp18 T C 11: 93,868,419 R410G probably damaging Het
Vmn1r172 T C 7: 23,660,038 I116T probably damaging Het
Vwa8 T A 14: 78,934,601 L274Q possibly damaging Het
Wdfy3 A T 5: 101,866,276 F2655I probably damaging Het
Zfp423 A T 8: 87,781,443 Y737N probably damaging Het
Zyx C A 6: 42,357,342 S500* probably null Het
Other mutations in Pomk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00814:Pomk APN 8 25983596 missense probably benign 0.21
IGL02678:Pomk APN 8 25983107 missense probably damaging 0.97
R1302:Pomk UTSW 8 25983074 missense probably damaging 1.00
R3105:Pomk UTSW 8 25982914 missense probably damaging 1.00
R4646:Pomk UTSW 8 25983605 missense probably damaging 1.00
R5106:Pomk UTSW 8 25986376 missense probably benign 0.00
R5343:Pomk UTSW 8 25983016 missense probably benign 0.09
R5572:Pomk UTSW 8 25983190 missense possibly damaging 0.88
R5953:Pomk UTSW 8 25983048 missense probably damaging 1.00
R6150:Pomk UTSW 8 25983256 missense possibly damaging 0.89
R6295:Pomk UTSW 8 25982927 missense probably damaging 0.99
Posted On2016-08-02