Incidental Mutation 'IGL02267:Jkamp'
ID 286952
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jkamp
Ensembl Gene ENSMUSG00000005078
Gene Name JNK1/MAPK8-associated membrane protein
Synonyms 1200003C05Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.466) question?
Stock # IGL02267
Quality Score
Status
Chromosome 12
Chromosomal Location 72132363-72148235 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72141591 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 198 (Y198C)
Ref Sequence ENSEMBL: ENSMUSP00000117251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057257] [ENSMUST00000117449] [ENSMUST00000125764]
AlphaFold Q8BI36
Predicted Effect probably damaging
Transcript: ENSMUST00000057257
AA Change: Y197C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000061370
Gene: ENSMUSG00000005078
AA Change: Y197C

DomainStartEndE-ValueType
Pfam:DUF766 9 300 3.6e-118 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117449
AA Change: Y191C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113744
Gene: ENSMUSG00000005078
AA Change: Y191C

DomainStartEndE-ValueType
Pfam:DUF766 3 295 2.3e-145 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125764
AA Change: Y198C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117251
Gene: ENSMUSG00000005078
AA Change: Y198C

DomainStartEndE-ValueType
Pfam:DUF766 10 214 2.2e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134041
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145752
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152381
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,683,505 (GRCm39) Q929R probably benign Het
Aplf A T 6: 87,635,946 (GRCm39) D122E probably damaging Het
Atp2a3 T A 11: 72,878,810 (GRCm39) L874Q probably damaging Het
Atp2b2 A T 6: 113,770,691 (GRCm39) L406Q probably damaging Het
Atp6v1b1 A G 6: 83,733,891 (GRCm39) D374G probably benign Het
Bcas1 T A 2: 170,220,708 (GRCm39) R239* probably null Het
Bhmt2 A G 13: 93,805,854 (GRCm39) V56A probably damaging Het
Cage1 T C 13: 38,207,233 (GRCm39) E204G probably damaging Het
Ccdc157 G A 11: 4,094,035 (GRCm39) A532V probably benign Het
Cd300lb G A 11: 114,819,303 (GRCm39) R109* probably null Het
Clca4c-ps T C 3: 144,585,516 (GRCm39) noncoding transcript Het
Ctnna3 G T 10: 64,781,777 (GRCm39) V747F probably benign Het
Cyp2c29 A T 19: 39,318,866 (GRCm39) I488F probably benign Het
Cyp3a25 T C 5: 145,935,362 (GRCm39) M85V possibly damaging Het
Dnah7b T A 1: 46,266,090 (GRCm39) Y2220N probably damaging Het
Espl1 A G 15: 102,224,099 (GRCm39) I1217V probably benign Het
Exoc2 A G 13: 30,999,304 (GRCm39) S918P probably benign Het
Fer1l4 T A 2: 155,873,172 (GRCm39) I1303F possibly damaging Het
Gm28047 A T 15: 102,455,662 (GRCm39) I234K probably damaging Het
Gpcpd1 A G 2: 132,410,630 (GRCm39) V19A probably damaging Het
Gprin3 A G 6: 59,331,458 (GRCm39) V283A probably benign Het
Grb14 A G 2: 64,783,960 (GRCm39) Y56H probably damaging Het
Greb1 A G 12: 16,767,209 (GRCm39) F331S probably benign Het
Iigp1c T G 18: 60,379,470 (GRCm39) V335G probably damaging Het
Klk1b11 G T 7: 43,649,165 (GRCm39) C234F probably damaging Het
Nacad T C 11: 6,552,649 (GRCm39) T181A probably benign Het
Or1e23 A G 11: 73,407,375 (GRCm39) S217P probably benign Het
Or2m13 A T 16: 19,225,914 (GRCm39) L285Q possibly damaging Het
Or5ak4 T A 2: 85,161,465 (GRCm39) Y259F probably damaging Het
Pitpnm3 A T 11: 71,962,274 (GRCm39) I227N probably benign Het
Pnn A G 12: 59,116,995 (GRCm39) E189G probably damaging Het
Pnpla2 C A 7: 141,038,122 (GRCm39) P197T probably damaging Het
Pnpla6 A G 8: 3,567,327 (GRCm39) T62A probably benign Het
Ptprq G T 10: 107,482,419 (GRCm39) D1051E probably damaging Het
Rag2 C T 2: 101,460,376 (GRCm39) R229C probably damaging Het
Serinc1 A T 10: 57,399,204 (GRCm39) I196N probably damaging Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Slc26a9 T C 1: 131,680,583 (GRCm39) C43R probably damaging Het
Slc2a3 A T 6: 122,716,931 (GRCm39) Y44N probably benign Het
Smad5 T G 13: 56,883,603 (GRCm39) probably benign Het
Sugct C A 13: 17,819,450 (GRCm39) V132F possibly damaging Het
Supt6 T C 11: 78,117,030 (GRCm39) E568G possibly damaging Het
Tfpt T C 7: 3,631,982 (GRCm39) T43A probably damaging Het
Timp4 A T 6: 115,224,240 (GRCm39) V143E possibly damaging Het
Tns1 T C 1: 74,031,290 (GRCm39) D275G possibly damaging Het
Trib1 A G 15: 59,523,449 (GRCm39) E161G probably damaging Het
Trpc7 A T 13: 57,008,743 (GRCm39) L308Q probably damaging Het
Ush1c A T 7: 45,858,722 (GRCm39) V522E possibly damaging Het
Usp28 T C 9: 48,935,265 (GRCm39) V449A probably damaging Het
Vmn1r82 A G 7: 12,039,273 (GRCm39) Y64C probably damaging Het
Wwox G A 8: 115,438,805 (GRCm39) M290I probably benign Het
Other mutations in Jkamp
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7926:Jkamp UTSW 12 72,141,590 (GRCm39) missense probably damaging 1.00
R8069:Jkamp UTSW 12 72,136,832 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16