Incidental Mutation 'R4027:Mknk1'
ID 313021
Institutional Source Beutler Lab
Gene Symbol Mknk1
Ensembl Gene ENSMUSG00000028708
Gene Name MAP kinase-interacting serine/threonine kinase 1
Synonyms 2410048M24Rik, Mnk1
MMRRC Submission 040850-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4027 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 115696395-115736447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 115721758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 101 (F101I)
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: F101I

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000019677
Gene: ENSMUSG00000028708
AA Change: F101I

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: F101I

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102123
Gene: ENSMUSG00000028708
AA Change: F101I

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 damaging
Transcript: ENSMUST00000130819
AA Change: F101I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118071
Gene: ENSMUSG00000028708
AA Change: F101I

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: F101I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117261
Gene: ENSMUSG00000028708
AA Change: F101I

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 benign
Transcript: ENSMUST00000151203
AA Change: F101I

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114941
Gene: ENSMUSG00000028708
AA Change: F101I

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 0.3724 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 97% (60/62)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik A G 2: 35,270,408 (GRCm39) F98L probably damaging Het
Adam26b T C 8: 43,973,409 (GRCm39) N531S probably benign Het
Ahdc1 T C 4: 132,791,476 (GRCm39) S906P possibly damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Ano10 A G 9: 122,081,994 (GRCm39) probably benign Het
Atp4a T C 7: 30,424,377 (GRCm39) probably null Het
C030005K15Rik T C 10: 97,561,404 (GRCm39) Y109C unknown Het
Carmil1 T A 13: 24,251,206 (GRCm39) probably benign Het
Ccl2 A G 11: 81,927,885 (GRCm39) R110G probably benign Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cog6 A C 3: 52,909,950 (GRCm39) D267E possibly damaging Het
Cyp4f37 G T 17: 32,850,646 (GRCm39) E366D probably benign Het
Dcun1d4 A G 5: 73,691,980 (GRCm39) D89G probably damaging Het
Dpep1 T C 8: 123,920,892 (GRCm39) V24A probably benign Het
Eefsec T C 6: 88,353,232 (GRCm39) I48V probably benign Het
Elmo2 G A 2: 165,136,169 (GRCm39) Q195* probably null Het
Ephb3 A G 16: 21,040,447 (GRCm39) D561G probably damaging Het
Erich2 C A 2: 70,343,134 (GRCm39) probably benign Het
Gatm A G 2: 122,427,927 (GRCm39) V362A probably damaging Het
Gdf10 A G 14: 33,654,572 (GRCm39) M360V probably damaging Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Hectd1 T A 12: 51,849,219 (GRCm39) probably null Het
Insrr A G 3: 87,716,906 (GRCm39) E682G probably benign Het
Itgax A G 7: 127,740,438 (GRCm39) I742V possibly damaging Het
Kcnh1 T C 1: 191,959,007 (GRCm39) V187A probably benign Het
Kdm6b G T 11: 69,297,094 (GRCm39) S419R possibly damaging Het
Kmt2a A T 9: 44,747,990 (GRCm39) probably benign Het
Krt10 A G 11: 99,277,019 (GRCm39) probably benign Het
Lct G A 1: 128,212,918 (GRCm39) R1912C probably benign Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Mast3 A G 8: 71,240,552 (GRCm39) L279P probably damaging Het
Mfsd4b3-ps T C 10: 39,823,343 (GRCm39) T306A probably benign Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mlc1 T C 15: 88,850,697 (GRCm39) I154V probably benign Het
Myo5b T C 18: 74,892,311 (GRCm39) I1685T possibly damaging Het
Nacc2 T A 2: 25,950,348 (GRCm39) M463L probably benign Het
Nek11 A C 9: 105,121,589 (GRCm39) Y443* probably null Het
Nme4 T C 17: 26,313,196 (GRCm39) probably null Het
Nova1 A G 12: 46,863,801 (GRCm39) probably benign Het
Or52h9 A T 7: 104,202,530 (GRCm39) I135F possibly damaging Het
Parp10 A G 15: 76,125,354 (GRCm39) probably null Het
Pkd1l3 T A 8: 110,350,603 (GRCm39) S483T possibly damaging Het
Plce1 T C 19: 38,512,709 (GRCm39) S3P probably damaging Het
Pnldc1 T C 17: 13,109,666 (GRCm39) D400G probably benign Het
Polr2b G A 5: 77,496,252 (GRCm39) R1141H possibly damaging Het
Prmt6 A G 3: 110,157,257 (GRCm39) I344T probably damaging Het
Psmd2 G A 16: 20,481,955 (GRCm39) G896D probably damaging Het
Ranbp17 C T 11: 33,450,718 (GRCm39) R73Q possibly damaging Het
Rcn1 G T 2: 105,229,395 (GRCm39) Y52* probably null Het
Reck T C 4: 43,922,931 (GRCm39) I402T probably damaging Het
Tecpr1 C A 5: 144,143,077 (GRCm39) A735S probably benign Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ube4a G A 9: 44,861,198 (GRCm39) probably benign Het
Vldlr A G 19: 27,215,713 (GRCm39) T237A probably benign Het
Vmn1r74 C A 7: 11,580,898 (GRCm39) T66K probably damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zmym1 C T 4: 126,943,672 (GRCm39) V239I probably benign Het
Zmym5 T A 14: 57,035,268 (GRCm39) T267S 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
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
R5400:Mknk1 UTSW 4 115,721,749 (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'- CTGTGGGCTGCTTCTCAAAC -3'
(R):5'- TCTAAGCGCTGCAAAATGC -3'

Sequencing Primer
(F):5'- GGCTGCTTCTCAAACATGAG -3'
(R):5'- CCAAGGGCAGTTTTTAAGTCC -3'
Posted On 2015-04-30