Incidental Mutation 'IGL01467:Jakmip2'
ID88133
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jakmip2
Ensembl Gene ENSMUSG00000024502
Gene Namejanus kinase and microtubule interacting protein 2
Synonyms6430702L21Rik, D930046L20Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.312) question?
Stock #IGL01467
Quality Score
Status
Chromosome18
Chromosomal Location43531408-43687773 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43582287 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 58 (I58T)
Ref Sequence ENSEMBL: ENSMUSP00000080881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082254]
Predicted Effect probably benign
Transcript: ENSMUST00000082254
AA Change: I58T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502
AA Change: I58T

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A G 5: 121,519,728 C501R probably damaging Het
Atxn1 C T 13: 45,567,193 V409I probably damaging Het
Cdkn2aip T C 8: 47,711,212 R489G probably damaging Het
Cgn A G 3: 94,779,588 S135P probably damaging Het
Cpne3 C A 4: 19,553,737 C98F probably benign Het
Cyp2c23 T C 19: 44,015,073 N221S possibly damaging Het
Dnah8 A G 17: 30,779,916 N3525S probably damaging Het
Efr3b T C 12: 3,969,597 E560G probably damaging Het
Eif2b5 C A 16: 20,508,964 C154* probably null Het
Eps8l2 A G 7: 141,361,601 E595G probably damaging Het
Gm8394 A G 10: 85,314,122 noncoding transcript Het
Gm9839 A T 1: 32,519,951 I350N probably damaging Het
Hdlbp A T 1: 93,417,698 probably benign Het
Il18rap A T 1: 40,548,639 I466F probably damaging Het
Itpr1 T A 6: 108,488,496 I2123N probably damaging Het
Kdm2a A G 19: 4,324,407 S899P probably damaging Het
Mmp15 T A 8: 95,366,331 F113I probably benign Het
Neb T C 2: 52,159,487 H6448R possibly damaging Het
Olfr165 T C 16: 19,407,789 T77A probably benign Het
Olfr340 C T 2: 36,452,644 R20* probably null Het
Pdgfc A G 3: 81,209,091 T251A probably damaging Het
Pdgfra T C 5: 75,185,631 probably null Het
Pdpk1 A G 17: 24,088,170 S269P probably damaging Het
Pip4k2c A T 10: 127,199,629 F347L probably benign Het
Platr26 T C 2: 71,723,312 noncoding transcript Het
Pnisr C T 4: 21,874,650 probably benign Het
Rab3gap1 T A 1: 127,930,384 probably null Het
Scn10a C T 9: 119,658,412 V619I probably benign Het
Slc38a11 T A 2: 65,316,856 T426S probably benign Het
Son T C 16: 91,657,277 S971P possibly damaging Het
Stk33 T A 7: 109,329,589 I239L probably damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem270 G T 5: 134,901,961 probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zfp750 A T 11: 121,512,941 C369* probably null Het
Other mutations in Jakmip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Jakmip2 APN 18 43590679 utr 5 prime probably benign
IGL01311:Jakmip2 APN 18 43557324 splice site probably benign
IGL01947:Jakmip2 APN 18 43547094 missense probably benign 0.00
IGL02010:Jakmip2 APN 18 43559093 critical splice donor site probably null
IGL02040:Jakmip2 APN 18 43571854 missense probably benign
IGL02143:Jakmip2 APN 18 43563285 missense probably damaging 1.00
IGL02246:Jakmip2 APN 18 43567158 missense possibly damaging 0.82
IGL02350:Jakmip2 APN 18 43547127 missense possibly damaging 0.46
IGL02357:Jakmip2 APN 18 43547127 missense possibly damaging 0.46
IGL02725:Jakmip2 APN 18 43562590 missense probably damaging 0.99
IGL02833:Jakmip2 APN 18 43575451 splice site probably benign
IGL02866:Jakmip2 APN 18 43552201 missense probably benign 0.28
IGL02981:Jakmip2 APN 18 43562530 critical splice donor site probably null
R0042:Jakmip2 UTSW 18 43552145 splice site probably benign
R0044:Jakmip2 UTSW 18 43582105 missense probably benign
R0436:Jakmip2 UTSW 18 43558169 nonsense probably null
R1453:Jakmip2 UTSW 18 43559214 intron probably null
R1682:Jakmip2 UTSW 18 43581831 critical splice donor site probably null
R1829:Jakmip2 UTSW 18 43582080 missense possibly damaging 0.93
R1908:Jakmip2 UTSW 18 43567144 missense probably benign
R2070:Jakmip2 UTSW 18 43563330 missense probably benign 0.34
R2168:Jakmip2 UTSW 18 43565930 missense probably damaging 1.00
R2985:Jakmip2 UTSW 18 43571181 missense possibly damaging 0.79
R3896:Jakmip2 UTSW 18 43549686 missense probably benign 0.00
R4243:Jakmip2 UTSW 18 43577436 missense probably benign 0.02
R4245:Jakmip2 UTSW 18 43577436 missense probably benign 0.02
R4614:Jakmip2 UTSW 18 43562592 missense probably damaging 1.00
R4687:Jakmip2 UTSW 18 43577412 missense possibly damaging 0.52
R4830:Jakmip2 UTSW 18 43567143 missense probably benign 0.00
R4852:Jakmip2 UTSW 18 43577400 missense probably damaging 0.99
R5099:Jakmip2 UTSW 18 43568108 missense probably benign 0.20
R5381:Jakmip2 UTSW 18 43581960 missense probably damaging 1.00
R5753:Jakmip2 UTSW 18 43559116 missense probably damaging 0.99
R5883:Jakmip2 UTSW 18 43581994 missense possibly damaging 0.59
R6261:Jakmip2 UTSW 18 43575534 missense probably benign 0.01
R6382:Jakmip2 UTSW 18 43571179 missense possibly damaging 0.66
R6527:Jakmip2 UTSW 18 43556524 missense possibly damaging 0.94
R6612:Jakmip2 UTSW 18 43557367 missense probably damaging 1.00
R6679:Jakmip2 UTSW 18 43565949 missense probably damaging 0.98
R7070:Jakmip2 UTSW 18 43557328 critical splice donor site probably null
R7103:Jakmip2 UTSW 18 43540583 splice site probably null
R7434:Jakmip2 UTSW 18 43557379 missense possibly damaging 0.94
R7446:Jakmip2 UTSW 18 43577325 missense probably damaging 1.00
R7515:Jakmip2 UTSW 18 43571126 missense probably benign 0.01
R7586:Jakmip2 UTSW 18 43540611 missense probably damaging 0.98
R7720:Jakmip2 UTSW 18 43571908 missense possibly damaging 0.51
R7999:Jakmip2 UTSW 18 43563333 missense not run
X0057:Jakmip2 UTSW 18 43565970 missense possibly damaging 0.48
Posted On2013-11-18