Incidental Mutation 'R7926:Jkamp'
ID 643338
Institutional Source Beutler Lab
Gene Symbol Jkamp
Ensembl Gene ENSMUSG00000005078
Gene Name JNK1/MAPK8-associated membrane protein
Synonyms 1200003C05Rik
MMRRC Submission 045973-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.466) question?
Stock # R7926 (G1)
Quality Score 999
Status Not validated
Chromosome 12
Chromosomal Location 72132363-72148235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72141590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 197 (Y197H)
Ref Sequence ENSEMBL: ENSMUSP00000061370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057257] [ENSMUST00000117449] [ENSMUST00000125764]
AlphaFold Q8BI36
Predicted Effect probably damaging
Transcript: ENSMUST00000057257
AA Change: Y197H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061370
Gene: ENSMUSG00000005078
AA Change: Y197H

DomainStartEndE-ValueType
Pfam:DUF766 9 300 3.6e-118 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117449
AA Change: Y191H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113744
Gene: ENSMUSG00000005078
AA Change: Y191H

DomainStartEndE-ValueType
Pfam:DUF766 3 295 2.3e-145 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125764
AA Change: Y198H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117251
Gene: ENSMUSG00000005078
AA Change: Y198H

DomainStartEndE-ValueType
Pfam:DUF766 10 214 2.2e-106 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
BC016579 C A 16: 45,449,825 (GRCm39) D198Y probably damaging Het
Cep170 A G 1: 176,588,979 (GRCm39) S549P probably damaging Het
Cnih3 T C 1: 181,277,566 (GRCm39) L96P probably damaging Het
Cnn2 T A 10: 79,829,160 (GRCm39) L168Q probably damaging Het
Cnot1 ACG A 8: 96,472,275 (GRCm39) probably null Het
Cnot10 A G 9: 114,446,883 (GRCm39) C398R probably damaging Het
Dcaf4 C A 12: 83,580,703 (GRCm39) Y212* probably null Het
Dmxl2 T C 9: 54,335,326 (GRCm39) T665A probably benign Het
Dnmt1 C A 9: 20,818,855 (GRCm39) A1609S unknown Het
Dzip1 T C 14: 119,120,911 (GRCm39) D682G probably benign Het
Fam76a A G 4: 132,629,405 (GRCm39) L249P probably damaging Het
Fgf10 T C 13: 118,925,752 (GRCm39) M177T probably damaging Het
G530012D18Rik C G 1: 85,504,935 (GRCm39) D113E unknown Het
Hoxa13 CG CGAG 6: 52,237,619 (GRCm39) probably null Het
Itln1 G A 1: 171,359,261 (GRCm39) T73I probably benign Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lcor T C 19: 41,571,008 (GRCm39) F67S probably benign Het
Lmf2 G A 15: 89,236,624 (GRCm39) P514L probably damaging Het
Lmntd2 G T 7: 140,790,258 (GRCm39) P610Q probably damaging Het
Map3k3 T C 11: 106,036,548 (GRCm39) S225P probably damaging Het
Mbd5 T C 2: 49,146,335 (GRCm39) Y182H probably damaging Het
Mki67 A G 7: 135,298,869 (GRCm39) V2055A possibly damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Myh8 C T 11: 67,169,732 (GRCm39) P17L possibly damaging Het
Myt1l T A 12: 29,861,651 (GRCm39) D144E unknown Het
Nfatc1 T C 18: 80,740,881 (GRCm39) Y373C probably damaging Het
Pacs2 C T 12: 113,024,372 (GRCm39) L418F probably damaging Het
Paxip1 A G 5: 27,996,207 (GRCm39) I24T unknown Het
Pdcl C T 2: 37,242,249 (GRCm39) G167E probably damaging Het
Pdcl A C 2: 37,242,251 (GRCm39) S166R probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Qsox1 C T 1: 155,688,533 (GRCm39) G5S unknown Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Sass6 T A 3: 116,422,419 (GRCm39) S641T possibly damaging Het
Six1 T C 12: 73,090,583 (GRCm39) N194S probably benign Het
Tagap T C 17: 8,145,770 (GRCm39) probably null Het
Tiparp T C 3: 65,460,946 (GRCm39) V645A possibly damaging Het
Tm2d2 T C 8: 25,510,480 (GRCm39) V113A probably damaging Het
Tmprss6 C A 15: 78,337,050 (GRCm39) R352L probably benign Het
Tslp A G 18: 32,950,246 (GRCm39) E105G possibly damaging Het
Ttc41 A G 10: 86,611,911 (GRCm39) E1093G probably benign Het
Ush2a G A 1: 188,460,797 (GRCm39) R2686H probably benign Het
Usp54 A T 14: 20,627,036 (GRCm39) Y541N probably damaging Het
Vmn2r125 A G 4: 156,702,988 (GRCm39) D122G probably damaging Het
Other mutations in Jkamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02267:Jkamp APN 12 72,141,591 (GRCm39) missense probably damaging 1.00
BB003:Jkamp UTSW 12 72,141,590 (GRCm39) missense probably damaging 1.00
BB013:Jkamp UTSW 12 72,141,590 (GRCm39) missense probably damaging 1.00
R0183:Jkamp UTSW 12 72,140,809 (GRCm39) missense possibly damaging 0.77
R0414:Jkamp UTSW 12 72,140,919 (GRCm39) critical splice donor site probably null
R1878:Jkamp UTSW 12 72,140,878 (GRCm39) missense possibly damaging 0.82
R4243:Jkamp UTSW 12 72,140,799 (GRCm39) missense probably benign 0.07
R4657:Jkamp UTSW 12 72,140,823 (GRCm39) missense probably damaging 1.00
R5293:Jkamp UTSW 12 72,136,883 (GRCm39) missense probably benign 0.04
R8069:Jkamp UTSW 12 72,136,832 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCTGCACATATCGACATCAC -3'
(R):5'- TCCCCGGCTATTTGGAAATC -3'

Sequencing Primer
(F):5'- CAAATTCCTTGTTTTACAGGTACACC -3'
(R):5'- AGGATTTTTGCAAGGAACCTTAG -3'
Posted On 2020-08-07