Incidental Mutation 'IGL02538:Mknk1'
ID297600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mknk1
Ensembl Gene ENSMUSG00000028708
Gene NameMAP kinase-interacting serine/threonine kinase 1
SynonymsMnk1, 2410048M24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02538
Quality Score
Status
Chromosome4
Chromosomal Location115839198-115879250 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 115860091 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 58 (Q58*)
Ref Sequence ENSEMBL: ENSMUSP00000114941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019677] [ENSMUST00000106513] [ENSMUST00000130819] [ENSMUST00000140315] [ENSMUST00000144427] [ENSMUST00000151203]
Predicted Effect probably null
Transcript: ENSMUST00000019677
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000019677
Gene: ENSMUSG00000028708
AA Change: Q58*

DomainStartEndE-ValueType
low complexity region 14 21 N/A INTRINSIC
S_TKc 37 321 2.01e-87 SMART
low complexity region 363 378 N/A INTRINSIC
low complexity region 383 404 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000106513
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000102123
Gene: ENSMUSG00000028708
AA Change: Q58*

DomainStartEndE-ValueType
low complexity region 14 21 N/A INTRINSIC
S_TKc 37 321 2.01e-87 SMART
low complexity region 363 378 N/A INTRINSIC
low complexity region 383 404 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000130819
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000118071
Gene: ENSMUSG00000028708
AA Change: Q58*

DomainStartEndE-ValueType
low complexity region 14 21 N/A INTRINSIC
STYKc 37 140 4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144235
Predicted Effect probably null
Transcript: ENSMUST00000144427
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000117261
Gene: ENSMUSG00000028708
AA Change: Q58*

DomainStartEndE-ValueType
low complexity region 14 21 N/A INTRINSIC
Pfam:Pkinase 37 101 1.1e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150201
Predicted Effect probably null
Transcript: ENSMUST00000151203
AA Change: Q58*
SMART Domains Protein: ENSMUSP00000114941
Gene: ENSMUSG00000028708
AA Change: Q58*

DomainStartEndE-ValueType
low complexity region 14 21 N/A INTRINSIC
Pfam:Pkinase 37 114 4.7e-12 PFAM
Pfam:Pkinase_Tyr 38 114 7.8e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153766
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a serine-threonine protein kinase that is activated by extracellular signal-regulated kinase or p38 mitogen-activated protein kinases, and it may function in cytokine and environmental stress responses. This kinase is required for phosphorylation of eukaryotic translation initiation factor 4E but it is not required for cell growth during development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous null mice are viable and fertile with no gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,306,605 I171L possibly damaging Het
Amdhd1 C T 10: 93,527,246 V327I probably damaging Het
Ankrd1 T C 19: 36,115,056 H257R probably damaging Het
Ano5 G A 7: 51,583,775 R595H probably damaging Het
Atg2a A G 19: 6,257,628 T1531A probably benign Het
Bsn A G 9: 108,105,236 S1001P unknown Het
Btn1a1 T C 13: 23,459,215 T355A possibly damaging Het
Cd22 G T 7: 30,877,560 N107K probably benign Het
Ceacam10 A G 7: 24,778,483 H141R probably damaging Het
Chil3 T C 3: 106,164,129 D73G probably damaging Het
Cit C T 5: 115,986,989 Q1536* probably null Het
Dmgdh T A 13: 93,708,753 I418K possibly damaging Het
Efcab6 T A 15: 84,054,521 probably benign Het
Eif4g2 T C 7: 111,079,316 I110V probably benign Het
Fam217a T C 13: 34,911,113 Y221C probably damaging Het
Fezf1 T A 6: 23,246,558 K342N probably damaging Het
Git2 A T 5: 114,730,986 probably benign Het
Gm4951 A T 18: 60,245,872 K160* probably null Het
Gm8126 A T 14: 43,259,590 R63W probably benign Het
Ica1l T C 1: 60,010,186 K203E probably benign Het
Inpp5d A G 1: 87,695,366 M393V probably null Het
Kbtbd11 A G 8: 15,028,841 D480G probably damaging Het
Klhl1 T C 14: 96,240,213 N473S probably benign Het
Krt2 A G 15: 101,811,154 S694P unknown Het
Lhfp C T 3: 53,043,311 A2V probably benign Het
Lipk T A 19: 34,046,879 L354Q probably damaging Het
Luzp2 T A 7: 55,211,798 L225* probably null Het
Mut A T 17: 40,938,619 I162F probably damaging Het
Nol11 T A 11: 107,173,373 M518L probably benign Het
Nubpl T C 12: 52,310,694 probably benign Het
Nup35 T A 2: 80,644,219 S93R possibly damaging Het
Olfr330 T C 11: 58,529,990 probably benign Het
Olfr992 T A 2: 85,400,303 I77F probably damaging Het
Pex3 T C 10: 13,535,600 E178G possibly damaging Het
Rad23b C A 4: 55,370,457 P161Q possibly damaging Het
Sipa1l2 A G 8: 125,451,977 S1128P probably damaging Het
Terb2 T C 2: 122,204,808 probably benign Het
Trim72 A G 7: 128,004,770 Y96C probably damaging Het
Tyk2 T C 9: 21,111,043 D830G possibly damaging Het
Uri1 A G 7: 37,965,491 S259P probably benign Het
Usp38 A T 8: 80,985,558 L616H probably damaging Het
Uspl1 T A 5: 149,188,459 C73S probably damaging Het
Wdr7 C A 18: 63,796,235 D1047E probably benign Het
Other mutations in Mknk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Mknk1 APN 4 115875534 missense probably damaging 1.00
IGL02927:Mknk1 APN 4 115857091 missense probably damaging 1.00
R1845:Mknk1 UTSW 4 115873231 nonsense probably null
R1943:Mknk1 UTSW 4 115863026 missense probably damaging 0.98
R2278:Mknk1 UTSW 4 115875493 missense probably damaging 0.99
R4027:Mknk1 UTSW 4 115864561 missense probably damaging 0.99
R4604:Mknk1 UTSW 4 115878027 missense probably damaging 0.96
R4833:Mknk1 UTSW 4 115878186 utr 3 prime probably benign
R5400:Mknk1 UTSW 4 115864552 missense probably damaging 1.00
R5400:Mknk1 UTSW 4 115864553 missense probably damaging 1.00
R5712:Mknk1 UTSW 4 115855006 splice site probably null
R5941:Mknk1 UTSW 4 115876637 splice site probably benign
R7038:Mknk1 UTSW 4 115857110 missense probably damaging 0.99
R7146:Mknk1 UTSW 4 115864592 missense probably damaging 0.99
X0050:Mknk1 UTSW 4 115857055 missense probably benign 0.02
Posted On2015-04-16