Incidental Mutation 'IGL01718:Jakmip3'
ID105007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jakmip3
Ensembl Gene ENSMUSG00000056856
Gene Namejanus kinase and microtubule interacting protein 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL01718
Quality Score
Status
Chromosome7
Chromosomal Location138940730-139083976 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 138989392 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 2 (S2A)
Ref Sequence ENSEMBL: ENSMUSP00000101717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106111] [ENSMUST00000166163] [ENSMUST00000209297]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068273
AA Change: S2A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065675
Gene: ENSMUSG00000056856
AA Change: S2A

DomainStartEndE-ValueType
coiled coil region 9 255 N/A INTRINSIC
low complexity region 270 282 N/A INTRINSIC
coiled coil region 289 421 N/A INTRINSIC
Pfam:JAKMIP_CC3 429 626 1.2e-87 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106111
AA Change: S2A

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
AA Change: S2A

DomainStartEndE-ValueType
coiled coil region 9 349 N/A INTRINSIC
coiled coil region 421 452 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000166163
AA Change: S2A

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: S2A

DomainStartEndE-ValueType
coiled coil region 9 255 N/A INTRINSIC
low complexity region 270 282 N/A INTRINSIC
coiled coil region 289 421 N/A INTRINSIC
coiled coil region 493 524 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000209297
AA Change: S2A
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a3 A G 7: 66,400,205 F422L possibly damaging Het
Ap2m1 T C 16: 20,542,194 probably benign Het
Asic1 A G 15: 99,672,002 Y68C probably damaging Het
Ccdc18 A G 5: 108,201,348 D1002G possibly damaging Het
Cyp2c29 A T 19: 39,330,260 I434F possibly damaging Het
Diaph3 T A 14: 86,656,338 R78S unknown Het
Dnase1l2 T C 17: 24,441,716 D188G possibly damaging Het
Exosc9 T C 3: 36,553,929 probably benign Het
Fgf23 G A 6: 127,080,473 V251I probably benign Het
Fndc3c1 T C X: 106,445,928 T296A probably benign Het
Gm5592 A G 7: 41,289,193 E633G probably damaging Het
Gm7102 A G 19: 61,175,761 S79P probably damaging Het
Gpr155 T C 2: 73,382,232 M16V probably benign Het
Lrba T A 3: 86,351,248 N1347K probably damaging Het
Mars T C 10: 127,305,838 R266G possibly damaging Het
Mrgpra1 A T 7: 47,335,927 probably null Het
Olfr835 T A 9: 19,035,288 L55* probably null Het
Pdzk1ip1 T A 4: 115,092,914 probably benign Het
Ppid G T 3: 79,593,679 C52F probably damaging Het
Reln A G 5: 21,947,514 I2318T possibly damaging Het
Rhpn2 G A 7: 35,370,754 D146N probably benign Het
Tspoap1 G T 11: 87,780,255 R1670L possibly damaging Het
Ttc22 G A 4: 106,638,576 V376M probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Zfp609 G A 9: 65,702,400 Q1094* probably null Het
Zfp831 C T 2: 174,643,838 T102I possibly damaging Het
Zglp1 C T 9: 21,063,379 C171Y probably benign Het
Other mutations in Jakmip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Jakmip3 APN 7 139017573 missense possibly damaging 0.71
IGL01095:Jakmip3 APN 7 139020817 missense probably damaging 1.00
IGL01356:Jakmip3 APN 7 139017612 missense probably damaging 0.99
IGL01759:Jakmip3 APN 7 139020904 missense probably damaging 0.97
IGL02149:Jakmip3 APN 7 139007346 missense possibly damaging 0.57
IGL02152:Jakmip3 APN 7 139025488 missense probably damaging 1.00
IGL02691:Jakmip3 APN 7 139026844 nonsense probably null
R1175:Jakmip3 UTSW 7 139027786 missense probably damaging 1.00
R1439:Jakmip3 UTSW 7 139029646 missense probably benign 0.00
R1509:Jakmip3 UTSW 7 139027776 missense possibly damaging 0.94
R1868:Jakmip3 UTSW 7 139007587 missense probably benign 0.04
R1938:Jakmip3 UTSW 7 139020138 missense probably damaging 0.97
R2566:Jakmip3 UTSW 7 138989468 missense possibly damaging 0.88
R3418:Jakmip3 UTSW 7 139017745 intron probably benign
R4825:Jakmip3 UTSW 7 139026766 missense probably damaging 1.00
R5011:Jakmip3 UTSW 7 139020222 missense probably damaging 1.00
R5327:Jakmip3 UTSW 7 139025435 missense possibly damaging 0.54
R5519:Jakmip3 UTSW 7 139007791 missense probably damaging 1.00
R6291:Jakmip3 UTSW 7 139020856 missense probably damaging 1.00
R6393:Jakmip3 UTSW 7 139019171 missense probably damaging 1.00
R6960:Jakmip3 UTSW 7 139023336 missense probably damaging 1.00
R7116:Jakmip3 UTSW 7 139020250 missense possibly damaging 0.87
R7191:Jakmip3 UTSW 7 138989528 splice site probably null
R7232:Jakmip3 UTSW 7 139007626 missense probably benign 0.00
R7385:Jakmip3 UTSW 7 139023339 missense possibly damaging 0.55
R7482:Jakmip3 UTSW 7 139025499 missense possibly damaging 0.84
R7657:Jakmip3 UTSW 7 139019174 missense probably damaging 1.00
R7814:Jakmip3 UTSW 7 139019129 missense probably damaging 1.00
R8321:Jakmip3 UTSW 7 139026884 missense probably benign
R8886:Jakmip3 UTSW 7 139007442 missense probably benign 0.01
Z1176:Jakmip3 UTSW 7 139020133 missense probably benign 0.16
Posted On2014-01-21