Incidental Mutation 'R5519:Jakmip3'
ID 431464
Institutional Source Beutler Lab
Gene Symbol Jakmip3
Ensembl Gene ENSMUSG00000056856
Gene Name janus kinase and microtubule interacting protein 3
Synonyms 6330417G02Rik
MMRRC Submission 043078-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5519 (G1)
Quality Score 104
Status Not validated
Chromosome 7
Chromosomal Location 138542459-138663892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138609520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 208 (I208T)
Ref Sequence ENSEMBL: ENSMUSP00000130207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106111] [ENSMUST00000166163] [ENSMUST00000209297]
AlphaFold Q5DTN8
Predicted Effect probably damaging
Transcript: ENSMUST00000106111
AA Change: I208T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
AA Change: I208T

DomainStartEndE-ValueType
coiled coil region 9 349 N/A INTRINSIC
coiled coil region 421 452 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166163
AA Change: I208T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: I208T

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
AA Change: I208T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 97.6%
  • 10x: 94.7%
  • 20x: 88.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067K01Rik T C 8: 84,729,621 (GRCm39) V99A possibly damaging Het
2510009E07Rik A G 16: 21,472,218 (GRCm39) S91P probably benign Het
2810021J22Rik G A 11: 58,770,923 (GRCm39) S135N probably benign Het
A530084C06Rik T C 13: 31,742,702 (GRCm39) probably benign Het
Acadsb T C 7: 131,031,694 (GRCm39) S177P probably damaging Het
Acp3 C A 9: 104,168,687 (GRCm39) G393W probably damaging Het
Axl G A 7: 25,478,087 (GRCm39) A204V possibly damaging Het
Birc6 A T 17: 74,887,173 (GRCm39) M806L probably benign Het
Cacna1i T C 15: 80,255,700 (GRCm39) L861P probably damaging Het
Cfap44 A T 16: 44,224,451 (GRCm39) D53V probably damaging Het
Col9a1 G A 1: 24,269,335 (GRCm39) probably null Het
Ctf2 T A 7: 127,318,463 (GRCm39) I179L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Emilin2 G A 17: 71,559,930 (GRCm39) P1016S probably benign Het
Gm12790 G A 4: 101,824,888 (GRCm39) P127S probably benign Het
Gsap T A 5: 21,494,857 (GRCm39) V24E probably damaging Het
Ipp T C 4: 116,367,964 (GRCm39) F66L possibly damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mosmo C T 7: 120,329,733 (GRCm39) P118L probably benign Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or51a42 G A 7: 103,708,504 (GRCm39) Q102* probably null Het
Padi2 A G 4: 140,676,533 (GRCm39) D557G probably damaging Het
Pde11a T A 2: 75,906,299 (GRCm39) K639N probably damaging Het
Pspc1 T C 14: 57,009,413 (GRCm39) I140M probably benign Het
Rundc3a A T 11: 102,292,857 (GRCm39) I417F probably benign Het
Scn1a T A 2: 66,162,557 (GRCm39) I230F probably damaging Het
Serpinb3b A G 1: 107,087,506 (GRCm39) M1T probably null Het
Sin3a T C 9: 57,025,457 (GRCm39) probably null Het
St8sia1 T C 6: 142,909,287 (GRCm39) N70D probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tpm2 T G 4: 43,522,751 (GRCm39) D55A possibly damaging Het
Trdv1 T A 14: 54,119,405 (GRCm39) M22K probably benign Het
Zc3h4 A T 7: 16,169,157 (GRCm39) T1089S unknown Het
Zfp518b G A 5: 38,831,441 (GRCm39) T188M probably damaging Het
Zfp74 G T 7: 29,634,559 (GRCm39) A383D 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
IGL01759:Jakmip3 APN 7 138,622,633 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- TCCTGTGTGAAGCGAAGGAG -3'
(R):5'- GTGGAATCTTACCTACCTGTGG -3'

Sequencing Primer
(F):5'- CCAAGAAGGGGTTTGAGGTG -3'
(R):5'- GGTACCTGGCTCTGCATTTCTG -3'
Posted On 2016-10-05