Incidental Mutation 'IGL02357:Jakmip2'
ID 290590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jakmip2
Ensembl Gene ENSMUSG00000024502
Gene Name janus kinase and microtubule interacting protein 2
Synonyms 6430702L21Rik, D930046L20Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.293) question?
Stock # IGL02357
Quality Score
Status
Chromosome 18
Chromosomal Location 43531408-43687773 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43547127 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 722 (T722A)
Ref Sequence ENSEMBL: ENSMUSP00000080881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082254]
AlphaFold D3YXK0
Predicted Effect possibly damaging
Transcript: ENSMUST00000082254
AA Change: T722A

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: T722A

DomainStartEndE-ValueType
coiled coil region 13 102 N/A INTRINSIC
coiled coil region 206 249 N/A INTRINSIC
Pfam:JAKMIP_CC3 409 602 2.3e-86 PFAM
coiled coil region 698 808 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is reported to be a component of the Golgi matrix. It may act as a golgin protein by negatively regulating transit of secretory cargo and by acting as a structural scaffold of the Golgi. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110035E14Rik T C 1: 9,613,319 (GRCm38) I44T possibly damaging Het
Abhd8 A G 8: 71,461,477 (GRCm38) V169A probably benign Het
Adamts16 T A 13: 70,738,585 (GRCm38) T1029S probably benign Het
Adgrv1 C A 13: 81,270,855 (GRCm38) C6007F probably benign Het
Ak8 A T 2: 28,700,213 (GRCm38) H8L probably benign Het
Apol7b A G 15: 77,423,632 (GRCm38) V221A probably benign Het
BC005624 G A 2: 30,973,767 (GRCm38) P235S probably benign Het
Casp9 C A 4: 141,805,472 (GRCm38) D226E probably benign Het
Cd96 A G 16: 46,069,776 (GRCm38) probably benign Het
Celf1 A T 2: 90,998,588 (GRCm38) K27I probably damaging Het
Cfap65 A T 1: 74,928,348 (GRCm38) C190* probably null Het
Cib2 A T 9: 54,549,886 (GRCm38) H31Q probably damaging Het
Cyp3a59 T C 5: 146,079,342 (GRCm38) L3P probably damaging Het
Dnajc13 T C 9: 104,162,359 (GRCm38) M2104V possibly damaging Het
Emb A G 13: 117,249,471 (GRCm38) probably benign Het
Fbn2 G T 18: 58,103,995 (GRCm38) N645K possibly damaging Het
Fes T C 7: 80,383,830 (GRCm38) probably null Het
Flnc A T 6: 29,438,493 (GRCm38) K129* probably null Het
Gckr C A 5: 31,307,790 (GRCm38) H368N possibly damaging Het
Gm5145 A T 17: 20,570,440 (GRCm38) I27F probably damaging Het
Hecw1 A G 13: 14,248,338 (GRCm38) probably null Het
Hook2 C T 8: 84,994,985 (GRCm38) Q291* probably null Het
Kcnt2 A G 1: 140,351,269 (GRCm38) I53V probably benign Het
Lipo2 A G 19: 33,730,948 (GRCm38) L222P possibly damaging Het
Mrc2 A G 11: 105,325,721 (GRCm38) D112G probably damaging Het
Mroh2b A G 15: 4,912,000 (GRCm38) N338S probably benign Het
Mrpl23 T A 7: 142,536,065 (GRCm38) probably benign Het
Myo18a A G 11: 77,850,247 (GRCm38) N1442S probably benign Het
Ngdn T A 14: 55,021,936 (GRCm38) V179E probably damaging Het
Nxn A G 11: 76,274,654 (GRCm38) probably benign Het
Olfr1349 T A 7: 6,515,226 (GRCm38) M68L probably damaging Het
Olfr1535 A G 13: 21,555,602 (GRCm38) L140P probably damaging Het
Osmr A T 15: 6,828,663 (GRCm38) N441K probably benign Het
Plcb3 A C 19: 6,958,178 (GRCm38) L789R probably damaging Het
Plek C T 11: 16,981,846 (GRCm38) R335H probably damaging Het
Pmp22 G T 11: 63,158,308 (GRCm38) V126F probably benign Het
Prom1 A G 5: 44,029,604 (GRCm38) probably benign Het
Prss1 C A 6: 41,463,205 (GRCm38) Q159K probably damaging Het
Psd3 G T 8: 67,963,869 (GRCm38) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm38) V1152G possibly damaging Het
Slc16a4 A G 3: 107,303,099 (GRCm38) I362V probably benign Het
Slc22a22 A G 15: 57,247,448 (GRCm38) V461A probably benign Het
Slc35e4 C T 11: 3,912,640 (GRCm38) R183Q probably benign Het
Spen T C 4: 141,477,579 (GRCm38) T1246A unknown Het
Syt16 T C 12: 74,266,842 (GRCm38) V514A probably benign Het
Tdpoz2 A G 3: 93,652,428 (GRCm38) V79A possibly damaging Het
Tpgs1 A G 10: 79,675,759 (GRCm38) D245G probably benign Het
Ttn A G 2: 76,709,619 (GRCm38) V34341A probably benign Het
Wwox T C 8: 114,712,142 (GRCm38) V316A possibly damaging Het
Other mutations in Jakmip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Jakmip2 APN 18 43,590,679 (GRCm38) utr 5 prime probably benign
IGL01311:Jakmip2 APN 18 43,557,324 (GRCm38) splice site probably benign
IGL01467:Jakmip2 APN 18 43,582,287 (GRCm38) missense probably benign 0.34
IGL01947:Jakmip2 APN 18 43,547,094 (GRCm38) missense probably benign 0.00
IGL02010:Jakmip2 APN 18 43,559,093 (GRCm38) critical splice donor site probably null
IGL02040:Jakmip2 APN 18 43,571,854 (GRCm38) missense probably benign
IGL02143:Jakmip2 APN 18 43,563,285 (GRCm38) missense probably damaging 1.00
IGL02246:Jakmip2 APN 18 43,567,158 (GRCm38) missense possibly damaging 0.82
IGL02350:Jakmip2 APN 18 43,547,127 (GRCm38) missense possibly damaging 0.46
IGL02725:Jakmip2 APN 18 43,562,590 (GRCm38) missense probably damaging 0.99
IGL02833:Jakmip2 APN 18 43,575,451 (GRCm38) splice site probably benign
IGL02866:Jakmip2 APN 18 43,552,201 (GRCm38) missense probably benign 0.28
IGL02981:Jakmip2 APN 18 43,562,530 (GRCm38) critical splice donor site probably null
R0042:Jakmip2 UTSW 18 43,552,145 (GRCm38) splice site probably benign
R0044:Jakmip2 UTSW 18 43,582,105 (GRCm38) missense probably benign
R0436:Jakmip2 UTSW 18 43,558,169 (GRCm38) nonsense probably null
R1453:Jakmip2 UTSW 18 43,559,214 (GRCm38) splice site probably null
R1682:Jakmip2 UTSW 18 43,581,831 (GRCm38) critical splice donor site probably null
R1829:Jakmip2 UTSW 18 43,582,080 (GRCm38) missense possibly damaging 0.93
R1908:Jakmip2 UTSW 18 43,567,144 (GRCm38) missense probably benign
R2070:Jakmip2 UTSW 18 43,563,330 (GRCm38) missense probably benign 0.34
R2168:Jakmip2 UTSW 18 43,565,930 (GRCm38) missense probably damaging 1.00
R2985:Jakmip2 UTSW 18 43,571,181 (GRCm38) missense possibly damaging 0.79
R3896:Jakmip2 UTSW 18 43,549,686 (GRCm38) missense probably benign 0.00
R4243:Jakmip2 UTSW 18 43,577,436 (GRCm38) missense probably benign 0.02
R4245:Jakmip2 UTSW 18 43,577,436 (GRCm38) missense probably benign 0.02
R4614:Jakmip2 UTSW 18 43,562,592 (GRCm38) missense probably damaging 1.00
R4687:Jakmip2 UTSW 18 43,577,412 (GRCm38) missense possibly damaging 0.52
R4830:Jakmip2 UTSW 18 43,567,143 (GRCm38) missense probably benign 0.00
R4852:Jakmip2 UTSW 18 43,577,400 (GRCm38) missense probably damaging 0.99
R5099:Jakmip2 UTSW 18 43,568,108 (GRCm38) missense probably benign 0.20
R5381:Jakmip2 UTSW 18 43,581,960 (GRCm38) missense probably damaging 1.00
R5753:Jakmip2 UTSW 18 43,559,116 (GRCm38) missense probably damaging 0.99
R5883:Jakmip2 UTSW 18 43,581,994 (GRCm38) missense possibly damaging 0.59
R6261:Jakmip2 UTSW 18 43,575,534 (GRCm38) missense probably benign 0.01
R6382:Jakmip2 UTSW 18 43,571,179 (GRCm38) missense possibly damaging 0.66
R6527:Jakmip2 UTSW 18 43,556,524 (GRCm38) missense possibly damaging 0.94
R6612:Jakmip2 UTSW 18 43,557,367 (GRCm38) missense probably damaging 1.00
R6679:Jakmip2 UTSW 18 43,565,949 (GRCm38) missense probably damaging 0.98
R7070:Jakmip2 UTSW 18 43,557,328 (GRCm38) critical splice donor site probably null
R7103:Jakmip2 UTSW 18 43,540,583 (GRCm38) splice site probably null
R7434:Jakmip2 UTSW 18 43,557,379 (GRCm38) missense possibly damaging 0.94
R7446:Jakmip2 UTSW 18 43,577,325 (GRCm38) missense probably damaging 1.00
R7515:Jakmip2 UTSW 18 43,571,126 (GRCm38) missense probably benign 0.01
R7586:Jakmip2 UTSW 18 43,540,611 (GRCm38) missense probably damaging 0.98
R7720:Jakmip2 UTSW 18 43,571,908 (GRCm38) missense possibly damaging 0.51
R7999:Jakmip2 UTSW 18 43,563,333 (GRCm38) missense probably benign 0.21
R9002:Jakmip2 UTSW 18 43,582,258 (GRCm38) missense probably benign 0.05
R9184:Jakmip2 UTSW 18 43,582,287 (GRCm38) missense probably benign 0.34
R9248:Jakmip2 UTSW 18 43,552,177 (GRCm38) missense probably benign 0.04
R9252:Jakmip2 UTSW 18 43,582,129 (GRCm38) missense possibly damaging 0.92
R9674:Jakmip2 UTSW 18 43,571,896 (GRCm38) missense probably benign
R9691:Jakmip2 UTSW 18 43,540,620 (GRCm38) missense probably damaging 0.99
R9788:Jakmip2 UTSW 18 43,571,862 (GRCm38) missense probably damaging 1.00
X0057:Jakmip2 UTSW 18 43,565,970 (GRCm38) missense possibly damaging 0.48
Posted On 2015-04-16