Incidental Mutation 'IGL01925:Mok'
ID 180267
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mok
Ensembl Gene ENSMUSG00000056458
Gene Name MOK protein kinase
Synonyms Rage, Stk30, MOK, MAPK/MAK/MRK/ overlapping kinase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.120) question?
Stock # IGL01925
Quality Score
Status
Chromosome 12
Chromosomal Location 110774232-110807373 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110774646 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 208 (N208S)
Ref Sequence ENSEMBL: ENSMUSP00000082041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070565] [ENSMUST00000084974] [ENSMUST00000193053]
AlphaFold Q9WVS4
Predicted Effect noncoding transcript
Transcript: ENSMUST00000021701
Predicted Effect probably benign
Transcript: ENSMUST00000070565
AA Change: N392S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068904
Gene: ENSMUSG00000056458
AA Change: N392S

DomainStartEndE-ValueType
S_TKc 4 285 6.78e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084974
AA Change: N208S

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000082041
Gene: ENSMUSG00000056458
AA Change: N208S

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 138 8.4e-20 PFAM
Pfam:Pkinase 1 168 4.9e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193053
SMART Domains Protein: ENSMUSP00000141678
Gene: ENSMUSG00000037957

DomainStartEndE-ValueType
Blast:WD40 89 131 2e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194118
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 belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,019,459 (GRCm39) D124G probably damaging Het
Arap3 C T 18: 38,117,299 (GRCm39) V926I probably benign Het
Catspere2 T A 1: 177,842,687 (GRCm39) probably benign Het
Col6a3 C T 1: 90,729,958 (GRCm39) V1176M possibly damaging Het
D5Ertd579e A T 5: 36,771,628 (GRCm39) D922E possibly damaging Het
Dipk2a A C 9: 94,402,509 (GRCm39) D384E probably damaging Het
Epm2a T A 10: 11,324,502 (GRCm39) I197N possibly damaging Het
Faim T G 9: 98,872,972 (GRCm39) probably benign Het
Fkbp15 A G 4: 62,241,450 (GRCm39) I565T probably damaging Het
Fli1 G A 9: 32,377,127 (GRCm39) P47L probably damaging Het
Gli2 T C 1: 118,781,106 (GRCm39) K187R probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hspa5 G A 2: 34,664,730 (GRCm39) V395I probably benign Het
Ide T C 19: 37,255,296 (GRCm39) T836A unknown Het
Il9 T A 13: 56,629,684 (GRCm39) probably benign Het
Ints8 C T 4: 11,235,617 (GRCm39) probably benign Het
Lrrc37a T A 11: 103,389,245 (GRCm39) H2060L probably benign Het
Morn3 T C 5: 123,184,825 (GRCm39) K5R probably damaging Het
Nalcn C T 14: 123,529,260 (GRCm39) C1405Y possibly damaging Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Ninl A T 2: 150,812,979 (GRCm39) C226S probably damaging Het
Onecut2 T C 18: 64,474,585 (GRCm39) W360R probably damaging Het
Or10al4 A G 17: 38,037,002 (GRCm39) E29G probably benign Het
Or13f5 A G 4: 52,825,910 (GRCm39) N171S probably benign Het
Or1af1 A G 2: 37,110,058 (GRCm39) T186A probably benign Het
Or2d3b T A 7: 106,514,235 (GRCm39) F277I probably damaging Het
Or2w2 T C 13: 21,758,341 (GRCm39) D95G possibly damaging Het
Or51e1 T C 7: 102,359,410 (GRCm39) S315P probably damaging Het
Rai14 A G 15: 10,595,948 (GRCm39) S118P possibly damaging Het
Serpinb7 T C 1: 107,379,399 (GRCm39) S269P probably benign Het
Sesn3 C T 9: 14,231,696 (GRCm39) T209I probably damaging Het
Slit1 T A 19: 41,596,817 (GRCm39) N1094I probably damaging Het
Tep1 C T 14: 51,061,955 (GRCm39) probably benign Het
Top1mt A G 15: 75,528,992 (GRCm39) F584S possibly damaging Het
Trim44 A T 2: 102,230,362 (GRCm39) L223Q probably benign Het
Trim69 T A 2: 121,998,397 (GRCm39) L123Q probably damaging Het
Ubr2 A T 17: 47,265,875 (GRCm39) L1153I possibly damaging Het
Unc13a G A 8: 72,087,187 (GRCm39) T1520I possibly damaging Het
Vmn2r105 A C 17: 20,428,973 (GRCm39) I701S possibly damaging Het
Wrn T C 8: 33,809,208 (GRCm39) T263A probably benign Het
Yeats2 T G 16: 19,998,430 (GRCm39) probably benign Het
Ythdf2 T C 4: 131,938,085 (GRCm39) Y37C probably damaging Het
Zfp169 T C 13: 48,644,239 (GRCm39) probably benign Het
Other mutations in Mok
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Mok APN 12 110,774,631 (GRCm39) unclassified probably benign
IGL02660:Mok APN 12 110,794,499 (GRCm39) missense probably damaging 0.99
R0256:Mok UTSW 12 110,774,539 (GRCm39) missense probably damaging 1.00
R1797:Mok UTSW 12 110,774,479 (GRCm39) missense probably benign 0.28
R2022:Mok UTSW 12 110,778,257 (GRCm39) missense probably benign 0.00
R2175:Mok UTSW 12 110,781,634 (GRCm39) missense probably benign 0.01
R3840:Mok UTSW 12 110,781,591 (GRCm39) missense probably benign 0.04
R3841:Mok UTSW 12 110,781,591 (GRCm39) missense probably benign 0.04
R4645:Mok UTSW 12 110,774,873 (GRCm39) unclassified probably benign
R5711:Mok UTSW 12 110,774,503 (GRCm39) missense probably damaging 1.00
R6084:Mok UTSW 12 110,781,380 (GRCm39) missense probably benign 0.01
R6336:Mok UTSW 12 110,800,558 (GRCm39) critical splice donor site probably null
R6544:Mok UTSW 12 110,777,189 (GRCm39) missense probably damaging 1.00
R7403:Mok UTSW 12 110,781,563 (GRCm39) critical splice donor site probably null
R7557:Mok UTSW 12 110,774,833 (GRCm39) missense probably benign
R7789:Mok UTSW 12 110,778,261 (GRCm39) missense probably damaging 1.00
R8011:Mok UTSW 12 110,781,351 (GRCm39) utr 3 prime probably benign
R8169:Mok UTSW 12 110,774,799 (GRCm39) missense probably benign 0.00
R8487:Mok UTSW 12 110,776,341 (GRCm39) critical splice donor site probably null
R9437:Mok UTSW 12 110,774,659 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07