Incidental Mutation 'IGL01013:Jakmip3'
ID53660
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: 0.117) question?
Stock #IGL01013
Quality Score
Status
Chromosome7
Chromosomal Location138940730-139083976 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 139017573 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 228 (E228A)
Ref Sequence ENSEMBL: ENSMUSP00000130207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106111] [ENSMUST00000166163] [ENSMUST00000209297]
Predicted Effect possibly damaging
Transcript: ENSMUST00000068273
AA Change: E228A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065675
Gene: ENSMUSG00000056856
AA Change: E228A

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 probably benign
Transcript: ENSMUST00000106111
SMART Domains Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856

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: E228A

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: E228A

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 benign
Transcript: ENSMUST00000209297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210718
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
B4galt6 A G 18: 20,689,013 V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 probably null Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Gm10722 A T 9: 3,002,230 Y184F probably damaging Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Kpna3 A T 14: 61,370,517 I413K probably damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Parl C A 16: 20,282,790 A285S possibly damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Polr2f A G 15: 79,146,129 Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 S492P probably benign Het
Zc3h12d T C 10: 7,839,956 I41T probably damaging Het
Other mutations in Jakmip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Jakmip3 APN 7 139020817 missense probably damaging 1.00
IGL01356:Jakmip3 APN 7 139017612 missense probably damaging 0.99
IGL01718:Jakmip3 APN 7 138989392 missense possibly damaging 0.94
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
Z1176:Jakmip3 UTSW 7 139020133 missense probably benign 0.16
Posted On2013-06-28