Incidental Mutation 'IGL01759:Jakmip3'
ID 153541
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jakmip3
Ensembl Gene ENSMUSG00000056856
Gene Name janus kinase and microtubule interacting protein 3
Synonyms 6330417G02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL01759
Quality Score
Status
Chromosome 7
Chromosomal Location 138542459-138663892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 138622633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 331 (Q331L)
Ref Sequence ENSEMBL: ENSMUSP00000148120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106111] [ENSMUST00000166163] [ENSMUST00000209297]
AlphaFold Q5DTN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000068273
AA Change: Q403L

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000065675
Gene: ENSMUSG00000056856
AA Change: Q403L

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: Q331L

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
AA Change: Q331L

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: Q403L

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: Q403L

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 probably damaging
Transcript: ENSMUST00000209297
AA Change: Q331L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210718
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,726,625 (GRCm39) D150E probably damaging Het
Akr1c14 T A 13: 4,131,139 (GRCm39) I277N probably damaging Het
Ap1b1 C T 11: 4,969,433 (GRCm39) T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 (GRCm39) V313L probably damaging Het
Car2 G A 3: 14,960,688 (GRCm39) probably null Het
Cdh17 T A 4: 11,771,262 (GRCm39) probably benign Het
Cep295 A G 9: 15,234,855 (GRCm39) probably null Het
Cep97 T C 16: 55,750,936 (GRCm39) K27E probably damaging Het
Cops5 A T 1: 10,097,474 (GRCm39) N258K probably damaging Het
Dchs1 T A 7: 105,404,509 (GRCm39) T2678S probably benign Het
Dnah10 T A 5: 124,832,850 (GRCm39) F861Y probably benign Het
Dock10 T C 1: 80,503,990 (GRCm39) E1777G probably damaging Het
Dock5 G A 14: 68,118,708 (GRCm39) Q23* probably null Het
Ermp1 T C 19: 29,593,236 (GRCm39) K752R probably benign Het
Fhip1a A C 3: 85,595,754 (GRCm39) I377S probably damaging Het
Gjd2 T A 2: 113,841,587 (GRCm39) I297L probably benign Het
Gm1123 T C 9: 98,905,307 (GRCm39) M68V probably benign Het
Gm28372 C T 2: 130,248,818 (GRCm39) R59W probably damaging Het
Gm9912 A C 3: 148,891,074 (GRCm39) F20V unknown Het
Gpat2 T C 2: 127,272,816 (GRCm39) F176S possibly damaging Het
Gpr150 T C 13: 76,203,784 (GRCm39) H387R possibly damaging Het
Gpr20 T A 15: 73,568,269 (GRCm39) D40V probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Kif5b A G 18: 6,225,647 (GRCm39) V179A probably damaging Het
Kif5b A T 18: 6,211,019 (GRCm39) probably benign Het
Krt14 A T 11: 100,095,242 (GRCm39) probably benign Het
L3mbtl3 A G 10: 26,207,798 (GRCm39) F307S unknown Het
Laptm4a T C 12: 8,984,687 (GRCm39) probably benign Het
Marveld3 T C 8: 110,674,719 (GRCm39) S366G possibly damaging Het
Mga C A 2: 119,781,676 (GRCm39) T2234K possibly damaging Het
Mkrn2os T C 6: 115,569,292 (GRCm39) N54S probably benign Het
Mras T C 9: 99,293,548 (GRCm39) I31V probably damaging Het
Myh1 A G 11: 67,110,732 (GRCm39) D1518G probably damaging Het
Myoz2 A T 3: 122,807,430 (GRCm39) Y127N possibly damaging Het
Nhlrc1 C A 13: 47,167,438 (GRCm39) W273L probably benign Het
Nol9 C T 4: 152,130,500 (GRCm39) probably benign Het
Nrxn2 T C 19: 6,559,959 (GRCm39) V1206A probably damaging Het
Or2ag1b T C 7: 106,288,540 (GRCm39) T133A probably benign Het
Or5k16 A T 16: 58,736,291 (GRCm39) F238I probably damaging Het
Or6c5 T A 10: 129,074,941 (GRCm39) F308I probably benign Het
Or6f2 T C 7: 139,756,447 (GRCm39) I138T probably benign Het
Or8g2b T A 9: 39,750,907 (GRCm39) M59K probably damaging Het
Pappa T C 4: 65,123,395 (GRCm39) probably null Het
Pfkl A G 10: 77,836,565 (GRCm39) S151P probably damaging Het
Pgbd5 C T 8: 125,111,118 (GRCm39) G191D probably damaging Het
Pikfyve T C 1: 65,292,512 (GRCm39) V1276A probably benign Het
Pla2g4c T A 7: 13,082,241 (GRCm39) Y486N probably damaging Het
Rasal2 C A 1: 157,003,502 (GRCm39) V386L probably benign Het
S1pr3 G A 13: 51,573,548 (GRCm39) R243Q probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Slc6a4 T C 11: 76,904,114 (GRCm39) S190P probably damaging Het
Snapc5 A T 9: 64,087,779 (GRCm39) probably null Het
Tbc1d14 C A 5: 36,728,913 (GRCm39) R151L probably damaging Het
Tecpr2 T A 12: 110,897,826 (GRCm39) probably benign Het
Tmem219 G A 7: 126,496,310 (GRCm39) P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 (GRCm38) R51G probably null Het
Ugp2 T C 11: 21,303,447 (GRCm39) K53E probably benign Het
Vmn1r214 T C 13: 23,218,662 (GRCm39) I52T probably benign Het
Vmn2r124 C T 17: 18,284,330 (GRCm39) T457I probably benign Het
Vps13b A G 15: 35,878,935 (GRCm39) E2978G probably damaging Het
Zfr A G 15: 12,159,741 (GRCm39) D679G probably damaging Het
Zhx3 T C 2: 160,622,634 (GRCm39) N511S probably damaging Het
Other mutations in Jakmip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Jakmip3 APN 7 138,619,302 (GRCm39) missense possibly damaging 0.71
IGL01095:Jakmip3 APN 7 138,622,546 (GRCm39) missense probably damaging 1.00
IGL01356:Jakmip3 APN 7 138,619,341 (GRCm39) missense probably damaging 0.99
IGL01718:Jakmip3 APN 7 138,591,121 (GRCm39) missense possibly damaging 0.94
IGL02149:Jakmip3 APN 7 138,609,075 (GRCm39) missense possibly damaging 0.57
IGL02152:Jakmip3 APN 7 138,627,217 (GRCm39) missense probably damaging 1.00
IGL02691:Jakmip3 APN 7 138,628,573 (GRCm39) nonsense probably null
R1175:Jakmip3 UTSW 7 138,629,515 (GRCm39) missense probably damaging 1.00
R1439:Jakmip3 UTSW 7 138,631,375 (GRCm39) missense probably benign 0.00
R1509:Jakmip3 UTSW 7 138,629,505 (GRCm39) missense possibly damaging 0.94
R1868:Jakmip3 UTSW 7 138,609,316 (GRCm39) missense probably benign 0.04
R1938:Jakmip3 UTSW 7 138,621,867 (GRCm39) missense probably damaging 0.97
R2566:Jakmip3 UTSW 7 138,591,197 (GRCm39) missense possibly damaging 0.88
R3418:Jakmip3 UTSW 7 138,619,474 (GRCm39) intron probably benign
R4825:Jakmip3 UTSW 7 138,628,495 (GRCm39) missense probably damaging 1.00
R5011:Jakmip3 UTSW 7 138,621,951 (GRCm39) missense probably damaging 1.00
R5327:Jakmip3 UTSW 7 138,627,164 (GRCm39) missense possibly damaging 0.54
R5519:Jakmip3 UTSW 7 138,609,520 (GRCm39) missense probably damaging 1.00
R6291:Jakmip3 UTSW 7 138,622,585 (GRCm39) missense probably damaging 1.00
R6393:Jakmip3 UTSW 7 138,620,900 (GRCm39) missense probably damaging 1.00
R6960:Jakmip3 UTSW 7 138,625,065 (GRCm39) missense probably damaging 1.00
R7116:Jakmip3 UTSW 7 138,621,979 (GRCm39) missense possibly damaging 0.87
R7191:Jakmip3 UTSW 7 138,591,257 (GRCm39) splice site probably null
R7232:Jakmip3 UTSW 7 138,609,355 (GRCm39) missense probably benign 0.00
R7385:Jakmip3 UTSW 7 138,625,068 (GRCm39) missense possibly damaging 0.55
R7482:Jakmip3 UTSW 7 138,627,228 (GRCm39) missense possibly damaging 0.84
R7657:Jakmip3 UTSW 7 138,620,903 (GRCm39) missense probably damaging 1.00
R7814:Jakmip3 UTSW 7 138,620,858 (GRCm39) missense probably damaging 1.00
R8321:Jakmip3 UTSW 7 138,628,613 (GRCm39) missense probably benign
R8886:Jakmip3 UTSW 7 138,609,171 (GRCm39) missense probably benign 0.01
R9109:Jakmip3 UTSW 7 138,622,560 (GRCm39) missense probably damaging 0.98
R9576:Jakmip3 UTSW 7 138,621,988 (GRCm39) missense probably damaging 0.97
R9629:Jakmip3 UTSW 7 138,625,118 (GRCm39) critical splice donor site probably null
R9643:Jakmip3 UTSW 7 138,621,915 (GRCm39) missense probably damaging 1.00
Z1176:Jakmip3 UTSW 7 138,621,862 (GRCm39) missense probably benign 0.16
Posted On 2014-02-04