Incidental Mutation 'R6960:Jakmip3'
ID 541707
Institutional Source Beutler Lab
Gene Symbol Jakmip3
Ensembl Gene ENSMUSG00000056856
Gene Name janus kinase and microtubule interacting protein 3
Synonyms 6330417G02Rik
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 138542459-138663892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138625065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 359 (D359G)
Ref Sequence ENSEMBL: ENSMUSP00000148120 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106111] [ENSMUST00000166163] [ENSMUST00000209297]
AlphaFold Q5DTN8
Predicted Effect possibly damaging
Transcript: ENSMUST00000106111
AA Change: D359G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101717
Gene: ENSMUSG00000056856
AA Change: D359G

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: D431G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130207
Gene: ENSMUSG00000056856
AA Change: D431G

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: D359G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.0979 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Rtf1 A G 2: 119,541,559 (GRCm39) Q264R probably damaging Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G 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
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
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'- TTTTCCGCAAGCTCAGGGTC -3'
(R):5'- TCTCCTGGGTAATGTTGGCC -3'

Sequencing Primer
(F):5'- TCCACAGACGATTGCTAGTG -3'
(R):5'- ACAGAGAAATTGCTGTGTCTTG -3'
Posted On 2018-11-28