Incidental Mutation 'IGL01311:Jakmip2'
ID 73700
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
Is this an essential gene? Possibly non essential (E-score: 0.374) question?
Stock # IGL01311
Quality Score
Status
Chromosome 18
Chromosomal Location 43531408-43687773 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 43557324 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082254]
AlphaFold D3YXK0
Predicted Effect probably benign
Transcript: ENSMUST00000082254
SMART Domains Protein: ENSMUSP00000080881
Gene: ENSMUSG00000024502

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930021J03Rik C T 19: 29,754,020 V531I probably benign Het
Arap1 A T 7: 101,388,136 K457* probably null Het
Arhgef10 C A 8: 14,991,054 probably null Het
Becn1 C T 11: 101,291,516 G281S probably damaging Het
Borcs8 A G 8: 70,165,168 S59G probably damaging Het
Capn5 C A 7: 98,161,923 R53L probably damaging Het
Cdk5 C T 5: 24,419,595 probably null Het
Cnksr1 A G 4: 134,230,466 L434P probably damaging Het
Col22a1 C T 15: 71,973,637 probably benign Het
Fam208b A G 13: 3,575,885 V1355A possibly damaging Het
Fn1 T C 1: 71,628,140 D811G probably damaging Het
Gm884 T A 11: 103,534,676 R1450S unknown Het
Haus3 G A 5: 34,167,644 Q224* probably null Het
Jam3 T G 9: 27,098,723 T296P probably damaging Het
Kcnrg T C 14: 61,611,825 L245P probably damaging Het
Kif1b A G 4: 149,220,602 L909P probably damaging Het
Klrc3 T C 6: 129,641,412 D136G probably damaging Het
Ltf T C 9: 111,031,012 probably benign Het
Meig1 A T 2: 3,409,208 V85D possibly damaging Het
Mrgprb2 T A 7: 48,551,998 E326D probably benign Het
Nlrp2 T A 7: 5,319,239 D65V possibly damaging Het
Olfr1186 T C 2: 88,525,760 F59S possibly damaging Het
Olfr652 T C 7: 104,564,829 Y203H probably damaging Het
Padi2 G A 4: 140,917,637 V61I probably benign Het
Pkd1l1 T C 11: 8,901,174 S753G possibly damaging Het
Ppp4r3b T C 11: 29,194,591 S314P probably benign Het
Serpina3i T C 12: 104,267,687 S305P probably damaging Het
Slc16a4 G T 3: 107,292,505 V23F possibly damaging Het
Slc25a34 G A 4: 141,621,436 T239I possibly damaging Het
Srebf2 T C 15: 82,192,203 probably benign Het
Tcf12 A T 9: 71,858,656 probably benign Het
Tnpo3 T C 6: 29,586,078 E171G possibly damaging Het
Ubr4 A G 4: 139,479,045 H4864R possibly damaging Het
Vmn2r108 A T 17: 20,462,677 L755* probably null Het
Zfp292 C T 4: 34,807,961 M1699I probably benign Het
Zmynd8 T C 2: 165,805,209 D880G probably damaging Het
Other mutations in Jakmip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Jakmip2 APN 18 43590679 utr 5 prime probably benign
IGL01467:Jakmip2 APN 18 43582287 missense probably benign 0.34
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 splice site 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 probably benign 0.21
R9002:Jakmip2 UTSW 18 43582258 missense probably benign 0.05
R9184:Jakmip2 UTSW 18 43582287 missense probably benign 0.34
R9248:Jakmip2 UTSW 18 43552177 missense probably benign 0.04
R9252:Jakmip2 UTSW 18 43582129 missense possibly damaging 0.92
R9674:Jakmip2 UTSW 18 43571896 missense probably benign
R9691:Jakmip2 UTSW 18 43540620 missense probably damaging 0.99
R9788:Jakmip2 UTSW 18 43571862 missense probably damaging 1.00
X0057:Jakmip2 UTSW 18 43565970 missense possibly damaging 0.48
Posted On 2013-10-07