Incidental Mutation 'R5400:Mknk1'
ID 429922
Institutional Source Beutler Lab
Gene Symbol Mknk1
Ensembl Gene ENSMUSG00000028708
Gene Name MAP kinase-interacting serine/threonine kinase 1
Synonyms 2410048M24Rik, Mnk1
MMRRC Submission 042971-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5400 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 115696395-115736447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115721749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 98 (L98M)
Ref Sequence ENSEMBL: ENSMUSP00000117261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019677] [ENSMUST00000106513] [ENSMUST00000130819] [ENSMUST00000144427] [ENSMUST00000151203]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000019677
AA Change: L98M

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019677
Gene: ENSMUSG00000028708
AA Change: L98M

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 possibly damaging
Transcript: ENSMUST00000106513
AA Change: L98M

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102123
Gene: ENSMUSG00000028708
AA Change: L98M

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 possibly damaging
Transcript: ENSMUST00000130819
AA Change: L98M

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118071
Gene: ENSMUSG00000028708
AA Change: L98M

DomainStartEndE-ValueType
low complexity region 14 21 N/A INTRINSIC
STYKc 37 140 4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144235
Predicted Effect probably damaging
Transcript: ENSMUST00000144427
AA Change: L98M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117261
Gene: ENSMUSG00000028708
AA Change: L98M

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 possibly damaging
Transcript: ENSMUST00000151203
AA Change: L98M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114941
Gene: ENSMUSG00000028708
AA Change: L98M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154957
Meta Mutation Damage Score 0.5900 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 98% (64/65)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl T C 2: 93,689,767 (GRCm39) D380G probably damaging Het
Afm T C 5: 90,699,257 (GRCm39) L567P possibly damaging Het
Anks1b A T 10: 90,348,686 (GRCm39) I785L probably damaging Het
Arpc5l G A 2: 38,903,747 (GRCm39) G79S probably benign Het
Arvcf G T 16: 18,217,820 (GRCm39) R440L probably benign Het
Atm T C 9: 53,414,318 (GRCm39) D924G probably damaging Het
Atp8b1 A T 18: 64,679,060 (GRCm39) probably null Het
Cd19 C T 7: 126,013,624 (GRCm39) G55D probably benign Het
Cd34 A G 1: 194,621,266 (GRCm39) probably benign Het
Cd69 T A 6: 129,246,954 (GRCm39) M88L probably benign Het
Ces2h A G 8: 105,745,057 (GRCm39) E397G probably benign Het
Ddx60 T C 8: 62,463,036 (GRCm39) F1306L possibly damaging Het
Dennd5b T C 6: 148,901,514 (GRCm39) E1124G probably damaging Het
Dio1 A T 4: 107,164,185 (GRCm39) M44K probably damaging Het
Elapor2 A T 5: 9,529,247 (GRCm39) N1027Y probably damaging Het
En1 A G 1: 120,531,324 (GRCm39) D188G probably damaging Het
Epha10 C T 4: 124,807,914 (GRCm39) probably benign Het
Fam120b A T 17: 15,623,388 (GRCm39) L455F possibly damaging Het
Flt4 AC ACC 11: 49,541,861 (GRCm39) probably null Het
Incenp A G 19: 9,855,039 (GRCm39) probably null Het
Kansl3 A G 1: 36,397,230 (GRCm39) V86A possibly damaging Het
Klhl7 C G 5: 24,331,918 (GRCm39) F73L probably damaging Het
Med28 T A 5: 45,682,541 (GRCm39) V69D probably damaging Het
Myo3b T A 2: 69,935,724 (GRCm39) C97S probably damaging Het
Neto1 A G 18: 86,414,033 (GRCm39) H9R possibly damaging Het
Omd A T 13: 49,745,703 (GRCm39) E371V probably benign Het
Or1n2 A T 2: 36,797,833 (GRCm39) I292F probably damaging Het
Or2w3b T C 11: 58,623,146 (GRCm39) T282A possibly damaging Het
Or4c123 T C 2: 89,127,257 (GRCm39) D119G probably damaging Het
Or51e2 G A 7: 102,391,637 (GRCm39) T191I probably benign Het
Osbpl9 G T 4: 108,919,497 (GRCm39) Y733* probably null Het
Pcdh12 A T 18: 38,401,951 (GRCm39) S91R probably damaging Het
Pxk C A 14: 8,136,911 (GRCm38) P144Q probably benign Het
Qser1 A G 2: 104,620,219 (GRCm39) S198P probably damaging Het
Recql T G 6: 142,308,073 (GRCm39) probably benign Het
Reln T C 5: 22,184,712 (GRCm39) D1601G probably damaging Het
Scn10a T C 9: 119,438,100 (GRCm39) D1922G probably damaging Het
Scn11a T A 9: 119,598,974 (GRCm39) R1185S probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shoc1 A G 4: 59,082,432 (GRCm39) S399P possibly damaging Het
Slc13a4 A T 6: 35,278,777 (GRCm39) C37* probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc9a9 T A 9: 94,594,954 (GRCm39) F155I probably damaging Het
Spef2 T A 15: 9,614,367 (GRCm39) K1193M probably damaging Het
Swt1 T C 1: 151,288,585 (GRCm39) T80A probably benign Het
Tmc1 A G 19: 20,781,966 (GRCm39) I584T probably damaging Het
Tsc22d1 C A 14: 76,654,494 (GRCm39) F324L probably benign Het
Usp19 T C 9: 108,377,392 (GRCm39) V1236A probably damaging Het
Vmn2r63 T C 7: 42,577,635 (GRCm39) N301S probably benign Het
Wrn C T 8: 33,784,945 (GRCm39) V476I probably benign Het
Zbed6 G A 1: 133,585,879 (GRCm39) T486I probably damaging Het
Zbtb25 C A 12: 76,396,476 (GRCm39) E249* probably null Het
Zfp54 C A 17: 21,653,962 (GRCm39) T152K probably benign Het
Other mutations in Mknk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01629:Mknk1 APN 4 115,732,731 (GRCm39) missense probably damaging 1.00
IGL02538:Mknk1 APN 4 115,717,288 (GRCm39) nonsense probably null
IGL02927:Mknk1 APN 4 115,714,288 (GRCm39) missense probably damaging 1.00
R1845:Mknk1 UTSW 4 115,730,428 (GRCm39) nonsense probably null
R1943:Mknk1 UTSW 4 115,720,223 (GRCm39) missense probably damaging 0.98
R2278:Mknk1 UTSW 4 115,732,690 (GRCm39) missense probably damaging 0.99
R4027:Mknk1 UTSW 4 115,721,758 (GRCm39) missense probably damaging 0.99
R4604:Mknk1 UTSW 4 115,735,224 (GRCm39) missense probably damaging 0.96
R4833:Mknk1 UTSW 4 115,735,383 (GRCm39) utr 3 prime probably benign
R5400:Mknk1 UTSW 4 115,721,750 (GRCm39) missense probably damaging 1.00
R5712:Mknk1 UTSW 4 115,712,203 (GRCm39) splice site probably null
R5941:Mknk1 UTSW 4 115,733,834 (GRCm39) splice site probably benign
R7038:Mknk1 UTSW 4 115,714,307 (GRCm39) missense probably damaging 0.99
R7146:Mknk1 UTSW 4 115,721,789 (GRCm39) missense probably damaging 0.99
R7606:Mknk1 UTSW 4 115,735,191 (GRCm39) missense probably damaging 0.98
R7747:Mknk1 UTSW 4 115,735,269 (GRCm39) missense possibly damaging 0.96
R8726:Mknk1 UTSW 4 115,730,506 (GRCm39) splice site probably benign
R9508:Mknk1 UTSW 4 115,732,579 (GRCm39) missense probably benign 0.03
X0050:Mknk1 UTSW 4 115,714,252 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TTGCTAACACTGTGGGCTGC -3'
(R):5'- ATTCTAAGCGCTGCAAAATGC -3'

Sequencing Primer
(F):5'- GGCTGCTTCTCAAACATGAG -3'
(R):5'- CCAAGGGCAGTTTTTAAGTCC -3'
Posted On 2016-09-06