Incidental Mutation 'R2278:Mknk1'
ID 242893
Institutional Source Beutler Lab
Gene Symbol Mknk1
Ensembl Gene ENSMUSG00000028708
Gene Name MAP kinase-interacting serine/threonine kinase 1
Synonyms 2410048M24Rik, Mnk1
MMRRC Submission 040277-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2278 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 115696395-115736447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115732690 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 306 (A306V)
Ref Sequence ENSEMBL: ENSMUSP00000102123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019677] [ENSMUST00000106513]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019677
AA Change: A306V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000019677
Gene: ENSMUSG00000028708
AA Change: A306V

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: ENSMUST00000106513
AA Change: A306V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102123
Gene: ENSMUSG00000028708
AA Change: A306V

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 noncoding transcript
Transcript: ENSMUST00000135209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144235
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187426
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,201,400 (GRCm39) D251G probably damaging Het
Aqp3 T C 4: 41,093,836 (GRCm39) D219G probably damaging Het
Arhgef15 C A 11: 68,842,517 (GRCm39) W404C probably damaging Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bmp5 T A 9: 75,683,830 (GRCm39) N152K possibly damaging Het
Bpifb2 C T 2: 153,720,399 (GRCm39) Q53* probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a1 A G 3: 144,463,785 (GRCm39) V164A probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gcn1 T C 5: 115,749,234 (GRCm39) I1922T probably damaging Het
Gnpat A G 8: 125,603,659 (GRCm39) D179G probably benign Het
Hook1 A G 4: 95,886,957 (GRCm39) Q188R probably benign Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Ifi44 T C 3: 151,438,025 (GRCm39) N421D probably benign Het
Igdcc4 C T 9: 65,038,025 (GRCm39) T801I probably damaging Het
Itgad T C 7: 127,804,342 (GRCm39) S107P possibly damaging Het
Kank2 C A 9: 21,681,080 (GRCm39) M816I probably damaging Het
Kcnk18 T C 19: 59,223,926 (GRCm39) I357T probably damaging Het
Kcnma1 T A 14: 23,593,151 (GRCm39) R120* probably null Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lypla1 T G 1: 4,911,321 (GRCm39) probably null Het
Ncoa6 A T 2: 155,249,570 (GRCm39) S1245T possibly damaging Het
Npas3 T A 12: 53,687,285 (GRCm39) V122E possibly damaging Het
Nrxn2 G C 19: 6,531,883 (GRCm39) Q789H probably damaging Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Or3a1 T C 11: 74,225,991 (GRCm39) E22G probably benign Het
Or5p69 T C 7: 107,967,288 (GRCm39) V197A probably benign Het
Or5w12 A G 2: 87,502,289 (GRCm39) C141R possibly damaging Het
Otog G A 7: 45,949,468 (GRCm39) V2369M probably damaging Het
Pfkp T C 13: 6,669,245 (GRCm39) probably null Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prune2 A G 19: 17,095,919 (GRCm39) I474M possibly damaging Het
Psg22 C A 7: 18,460,762 (GRCm39) Q464K possibly damaging Het
Rp1 C T 1: 4,418,250 (GRCm39) S954N possibly damaging Het
Rps27l T A 9: 66,854,208 (GRCm39) D34E probably benign Het
Sae1 A C 7: 16,104,291 (GRCm39) L106R probably damaging Het
Siglec1 T A 2: 130,913,257 (GRCm39) Q1553L probably benign Het
Slc11a2 A G 15: 100,307,962 (GRCm39) probably null Het
Slc14a2 A T 18: 78,203,159 (GRCm39) M556K probably benign Het
Slk T G 19: 47,608,188 (GRCm39) I380M probably damaging Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tiam2 G A 17: 3,477,495 (GRCm39) V573M probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tmem255b C T 8: 13,501,081 (GRCm39) A106V probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Vps13c A G 9: 67,846,354 (GRCm39) M2141V probably benign Het
Vwa5a T C 9: 38,634,503 (GRCm39) Y143H probably damaging Het
Zfp280d T A 9: 72,246,055 (GRCm39) C707* probably null Het
Zfp668 A T 7: 127,465,998 (GRCm39) N395K probably benign Het
Znhit6 G T 3: 145,281,991 (GRCm39) 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
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
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'- AGCAGCATGTCCTACCCATC -3'
(R):5'- AATCTATGGCACGTCAAGGG -3'

Sequencing Primer
(F):5'- ATCCCTGGCCAGTGTGAC -3'
(R):5'- GGAGTCATTCCTTCTACCACAGGATG -3'
Posted On 2014-10-16