Incidental Mutation 'R1943:Mknk1'
ID 216360
Institutional Source Beutler Lab
Gene Symbol Mknk1
Ensembl Gene ENSMUSG00000028708
Gene Name MAP kinase-interacting serine/threonine kinase 1
Synonyms 2410048M24Rik, Mnk1
MMRRC Submission 039961-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1943 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 115696395-115736447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115720223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 83 (V83A)
Ref Sequence ENSEMBL: ENSMUSP00000118071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019677] [ENSMUST00000106513] [ENSMUST00000130819] [ENSMUST00000144427] [ENSMUST00000151203]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000019677
AA Change: V83A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019677
Gene: ENSMUSG00000028708
AA Change: V83A

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: V83A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102123
Gene: ENSMUSG00000028708
AA Change: V83A

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: V83A

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118071
Gene: ENSMUSG00000028708
AA Change: V83A

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 possibly damaging
Transcript: ENSMUST00000144427
AA Change: V83A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000117261
Gene: ENSMUSG00000028708
AA Change: V83A

DomainStartEndE-ValueType
low complexity region 14 21 N/A INTRINSIC
Pfam:Pkinase 37 101 1.1e-7 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000151203
AA Change: V83A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114941
Gene: ENSMUSG00000028708
AA Change: V83A

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: ENSMUST00000153766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154957
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152888
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,645,506 (GRCm39) N1017S possibly damaging Het
Abca8a T C 11: 109,960,689 (GRCm39) I610V probably benign Het
Acp5 C T 9: 22,040,900 (GRCm39) V108M probably damaging Het
Adam23 T C 1: 63,516,916 (GRCm39) probably null Het
Adam34 T A 8: 44,103,864 (GRCm39) T594S possibly damaging Het
Adam34 A T 8: 44,104,852 (GRCm39) N264K probably damaging Het
Arsa G A 15: 89,357,742 (GRCm39) T407I probably damaging Het
Bicc1 A G 10: 70,995,353 (GRCm39) S32P probably damaging Het
Cacna1i T A 15: 80,279,245 (GRCm39) D1995E probably benign Het
Cemip2 G A 19: 21,825,404 (GRCm39) probably null Het
Chst15 A T 7: 131,864,579 (GRCm39) probably null Het
Cntnap4 T A 8: 113,542,128 (GRCm39) F754I probably benign Het
Cpz C T 5: 35,669,772 (GRCm39) E302K probably damaging Het
Daw1 A T 1: 83,186,987 (GRCm39) I371F possibly damaging Het
Dennd1b C A 1: 139,096,690 (GRCm39) probably benign Het
Dhtkd1 T G 2: 5,937,293 (GRCm39) Q73P probably benign Het
Dmgdh T C 13: 93,847,878 (GRCm39) I525T probably benign Het
Dst C A 1: 34,267,450 (GRCm39) T4964K possibly damaging Het
Ercc3 A G 18: 32,379,663 (GRCm39) Y290C probably damaging Het
Fh1 C T 1: 175,437,344 (GRCm39) V252I probably benign Het
Gm13199 C T 2: 5,867,517 (GRCm39) probably benign Het
Il1rn T C 2: 24,238,611 (GRCm39) S82P possibly damaging Het
Lama4 T C 10: 38,973,134 (GRCm39) V1567A possibly damaging Het
Lamtor4 A G 5: 138,254,054 (GRCm39) probably null Het
Llgl1 A G 11: 60,596,842 (GRCm39) N148D probably benign Het
Lmo7 G T 14: 102,139,738 (GRCm39) G774V probably damaging Het
Luzp2 A T 7: 54,914,050 (GRCm39) K293M possibly damaging Het
Mug2 T C 6: 122,056,598 (GRCm39) V1181A probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Or1ad8 A G 11: 50,898,502 (GRCm39) I234M probably benign Het
Or2aj4 A T 16: 19,385,187 (GRCm39) W149R probably benign Het
Osbpl3 A G 6: 50,297,054 (GRCm39) I548T probably benign Het
Parp14 A G 16: 35,656,499 (GRCm39) Y1676H probably damaging Het
Phtf1 A T 3: 103,901,198 (GRCm39) K416* probably null Het
Pmp2 T C 3: 10,247,570 (GRCm39) T40A probably benign Het
Ptpra T C 2: 130,386,024 (GRCm39) M541T probably damaging Het
Rapgef6 A G 11: 54,548,089 (GRCm39) I753V possibly damaging Het
Rdh14 T C 12: 10,441,162 (GRCm39) V108A probably benign Het
Rnf38 A T 4: 44,138,748 (GRCm39) H248Q probably damaging Het
Rsph6a A C 7: 18,808,001 (GRCm39) Y388S probably damaging Het
Ryr2 T C 13: 11,746,609 (GRCm39) D1981G probably benign Het
Sf3a3 A G 4: 124,609,694 (GRCm39) K97E possibly damaging Het
Shisa9 A G 16: 12,085,620 (GRCm39) T394A probably benign Het
Slc43a2 T A 11: 75,436,567 (GRCm39) probably null Het
Slc45a1 A G 4: 150,728,734 (GRCm39) F23S probably benign Het
Slc7a10 T A 7: 34,899,723 (GRCm39) V435E probably benign Het
Snx15 A G 19: 6,178,096 (GRCm39) Y28H probably damaging Het
Spef2 T G 15: 9,663,280 (GRCm39) K834Q possibly damaging Het
Tdpoz2 G T 3: 93,559,230 (GRCm39) Y247* probably null Het
Tedc2 G A 17: 24,436,923 (GRCm39) R271W possibly damaging Het
Tfr2 C A 5: 137,577,183 (GRCm39) H378Q probably benign Het
Tigit T A 16: 43,469,581 (GRCm39) H170L probably benign Het
Tmem62 A T 2: 120,817,107 (GRCm39) Q91L probably benign Het
Tmtc1 G T 6: 148,327,416 (GRCm39) C32* probably null Het
Txndc12 G A 4: 108,713,407 (GRCm39) V90I probably benign Het
Vmn2r93 C A 17: 18,546,063 (GRCm39) T645K probably benign Het
Vmn2r96 C T 17: 18,806,664 (GRCm39) T345I probably benign Het
Vps13d A T 4: 144,882,427 (GRCm39) D1055E probably benign Het
Xirp2 A G 2: 67,342,959 (GRCm39) I1733M probably benign Het
Zfp512b T C 2: 181,230,208 (GRCm39) H516R probably damaging Het
Zfp606 T C 7: 12,227,615 (GRCm39) S521P probably damaging Het
Zfp715 A T 7: 42,949,054 (GRCm39) V302E possibly damaging 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
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
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'- TGTTTCCCCACGTCACTGAG -3'
(R):5'- GTATTTCAGCCAAGAGAAGGTG -3'

Sequencing Primer
(F):5'- ACGTCACTGAGGCCTACC -3'
(R):5'- GGGGCTATTGCTATCCCAC -3'
Posted On 2014-08-01