Incidental Mutation 'R5842:Jakmip1'
ID 450491
Institutional Source Beutler Lab
Gene Symbol Jakmip1
Ensembl Gene ENSMUSG00000113373
Gene Name janus kinase and microtubule interacting protein 1
Synonyms 5830437M04Rik, C330021K24Rik, Gababrbp, Marlin-1
MMRRC Submission 043223-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R5842 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 37185679-37307951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37264612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 418 (R418C)
Ref Sequence ENSEMBL: ENSMUSP00000156188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043794] [ENSMUST00000121010] [ENSMUST00000137019] [ENSMUST00000174629] [ENSMUST00000232332]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043794
AA Change: R418C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: R418C

DomainStartEndE-ValueType
coiled coil region 13 101 N/A INTRINSIC
coiled coil region 133 227 N/A INTRINSIC
coiled coil region 284 377 N/A INTRINSIC
low complexity region 412 424 N/A INTRINSIC
low complexity region 467 487 N/A INTRINSIC
coiled coil region 515 604 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121010
AA Change: R418C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: R418C

DomainStartEndE-ValueType
coiled coil region 13 101 N/A INTRINSIC
coiled coil region 133 227 N/A INTRINSIC
coiled coil region 284 377 N/A INTRINSIC
Pfam:JAKMIP_CC3 415 612 3.3e-85 PFAM
coiled coil region 678 819 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137019
SMART Domains Protein: ENSMUSP00000122584
Gene: ENSMUSG00000063646

DomainStartEndE-ValueType
coiled coil region 13 101 N/A INTRINSIC
coiled coil region 133 227 N/A INTRINSIC
coiled coil region 284 330 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174629
SMART Domains Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646

DomainStartEndE-ValueType
coiled coil region 13 52 N/A INTRINSIC
coiled coil region 119 212 N/A INTRINSIC
low complexity region 282 302 N/A INTRINSIC
coiled coil region 330 422 N/A INTRINSIC
coiled coil region 493 634 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000232332
AA Change: R418C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.1%
  • 20x: 90.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene results in social deficits, stereotyped activity, abnormal postnatal vocalizations, reduced anxiety/increased impulsivity and glutamatergic NMDAR signaling deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk1 G A 3: 127,474,618 (GRCm39) H462Y probably damaging Het
Atp12a T C 14: 56,615,747 (GRCm39) I503T probably damaging Het
Bmp6 T A 13: 38,530,543 (GRCm39) V212D probably damaging Het
Col7a1 A G 9: 108,794,883 (GRCm39) D1479G unknown Het
Eea1 A G 10: 95,853,986 (GRCm39) D548G probably damaging Het
Eif5a2 T C 3: 28,848,546 (GRCm39) V135A probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fstl5 T G 3: 76,229,590 (GRCm39) N130K possibly damaging Het
Gatm T C 2: 122,434,108 (GRCm39) I147V probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Matn2 A T 15: 34,399,202 (GRCm39) D363V probably damaging Het
Mov10 G A 3: 104,706,695 (GRCm39) probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Nbas T C 12: 13,319,267 (GRCm39) probably null Het
Nlgn1 A T 3: 26,187,892 (GRCm39) probably null Het
Nnt T A 13: 119,531,283 (GRCm39) I155F probably damaging Het
Or5p80 A G 7: 108,229,859 (GRCm39) Y220C probably benign Het
Pacc1 G T 1: 191,078,986 (GRCm39) C223F probably damaging Het
Parp9 A G 16: 35,763,778 (GRCm39) I19V possibly damaging Het
Pcdha11 T A 18: 37,144,337 (GRCm39) S143T possibly damaging Het
Pdzph1 T G 17: 59,281,407 (GRCm39) S292R possibly damaging Het
Pmvk T A 3: 89,374,927 (GRCm39) V108D probably damaging Het
Rc3h2 T C 2: 37,268,383 (GRCm39) T916A possibly damaging Het
Slc23a1 T A 18: 35,755,935 (GRCm39) I393F probably damaging Het
Slc4a7 T A 14: 14,778,866 (GRCm38) M925K probably damaging Het
Spag17 A G 3: 99,846,566 (GRCm39) D30G possibly damaging Het
Syde2 A G 3: 145,704,775 (GRCm39) I576V probably benign Het
Tgm2 C T 2: 157,985,001 (GRCm39) R35H probably damaging Het
Tiam1 A G 16: 89,652,887 (GRCm39) V745A probably benign Het
Timeless T C 10: 128,083,328 (GRCm39) probably null Het
Trp53tg5 T C 2: 164,313,289 (GRCm39) K129E possibly damaging Het
Ttc6 T C 12: 57,783,802 (GRCm39) Y1754H probably damaging Het
Ube4b G T 4: 149,415,887 (GRCm39) T1069N probably benign Het
Ugcg C T 4: 59,219,545 (GRCm39) S294L possibly damaging Het
Vgll2 T C 10: 51,901,388 (GRCm39) L106P probably damaging Het
Vsig10l T A 7: 43,118,396 (GRCm39) V798E probably benign Het
Wdr73 A T 7: 80,541,458 (GRCm39) H361Q probably damaging Het
Xrcc3 A T 12: 111,770,964 (GRCm39) F322I possibly damaging Het
Ypel1 T C 16: 16,912,851 (GRCm39) T26A possibly damaging Het
Other mutations in Jakmip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Jakmip1 APN 5 37,242,750 (GRCm39) nonsense probably null
IGL01350:Jakmip1 APN 5 37,242,775 (GRCm39) missense probably benign 0.01
IGL01613:Jakmip1 APN 5 37,258,112 (GRCm39) missense probably damaging 1.00
IGL01875:Jakmip1 APN 5 37,278,324 (GRCm39) missense probably damaging 0.99
IGL02006:Jakmip1 APN 5 37,278,331 (GRCm39) missense probably damaging 0.99
IGL02225:Jakmip1 APN 5 37,262,200 (GRCm39) missense probably damaging 0.99
IGL02389:Jakmip1 APN 5 37,258,187 (GRCm39) nonsense probably null
R0036:Jakmip1 UTSW 5 37,291,648 (GRCm39) missense probably null 0.38
R0194:Jakmip1 UTSW 5 37,291,627 (GRCm39) missense possibly damaging 0.77
R0442:Jakmip1 UTSW 5 37,292,897 (GRCm39) splice site probably null
R0555:Jakmip1 UTSW 5 37,276,217 (GRCm39) missense probably damaging 0.99
R1053:Jakmip1 UTSW 5 37,291,593 (GRCm39) missense possibly damaging 0.59
R1158:Jakmip1 UTSW 5 37,248,472 (GRCm39) missense possibly damaging 0.94
R1470:Jakmip1 UTSW 5 37,258,182 (GRCm39) missense probably damaging 1.00
R1470:Jakmip1 UTSW 5 37,258,182 (GRCm39) missense probably damaging 1.00
R2339:Jakmip1 UTSW 5 37,248,543 (GRCm39) missense probably benign 0.05
R2397:Jakmip1 UTSW 5 37,258,087 (GRCm39) missense probably damaging 0.99
R2425:Jakmip1 UTSW 5 37,299,149 (GRCm39) nonsense probably null
R2973:Jakmip1 UTSW 5 37,248,871 (GRCm39) missense probably damaging 1.00
R4758:Jakmip1 UTSW 5 37,285,966 (GRCm39) missense probably damaging 0.99
R4918:Jakmip1 UTSW 5 37,248,619 (GRCm39) missense probably damaging 1.00
R5212:Jakmip1 UTSW 5 37,262,245 (GRCm39) missense probably benign 0.05
R5926:Jakmip1 UTSW 5 37,242,624 (GRCm39) unclassified probably benign
R6258:Jakmip1 UTSW 5 37,299,104 (GRCm39) nonsense probably null
R6776:Jakmip1 UTSW 5 37,344,498 (GRCm39) missense probably damaging 0.97
R6880:Jakmip1 UTSW 5 37,262,967 (GRCm39) missense possibly damaging 0.95
R6961:Jakmip1 UTSW 5 37,330,697 (GRCm39) missense probably damaging 0.98
R6982:Jakmip1 UTSW 5 37,282,285 (GRCm39) missense probably damaging 1.00
R7109:Jakmip1 UTSW 5 37,332,109 (GRCm39) nonsense probably null
R7173:Jakmip1 UTSW 5 37,248,708 (GRCm39) missense probably damaging 1.00
R7293:Jakmip1 UTSW 5 37,284,817 (GRCm39) missense probably benign 0.00
R7294:Jakmip1 UTSW 5 37,274,804 (GRCm39) missense possibly damaging 0.65
R7361:Jakmip1 UTSW 5 37,276,148 (GRCm39) missense probably damaging 1.00
R7384:Jakmip1 UTSW 5 37,330,551 (GRCm39) missense possibly damaging 0.70
R7454:Jakmip1 UTSW 5 37,332,498 (GRCm39) missense probably damaging 0.96
R7477:Jakmip1 UTSW 5 37,330,915 (GRCm39) missense probably benign 0.00
R7579:Jakmip1 UTSW 5 37,284,802 (GRCm39) missense possibly damaging 0.95
R7617:Jakmip1 UTSW 5 37,328,345 (GRCm39) missense possibly damaging 0.85
R7651:Jakmip1 UTSW 5 37,291,617 (GRCm39) missense probably damaging 0.97
R7702:Jakmip1 UTSW 5 37,274,841 (GRCm39) missense probably damaging 1.00
R7822:Jakmip1 UTSW 5 37,332,524 (GRCm39) missense probably damaging 0.99
R7888:Jakmip1 UTSW 5 37,262,208 (GRCm39) missense probably damaging 1.00
R7942:Jakmip1 UTSW 5 37,331,182 (GRCm39) missense probably benign 0.01
R7949:Jakmip1 UTSW 5 37,339,492 (GRCm39) missense probably damaging 1.00
R8015:Jakmip1 UTSW 5 37,317,109 (GRCm39) missense unknown
R8039:Jakmip1 UTSW 5 37,258,116 (GRCm39) missense probably damaging 1.00
R8044:Jakmip1 UTSW 5 37,311,988 (GRCm39) missense unknown
R8070:Jakmip1 UTSW 5 37,330,631 (GRCm39) missense probably benign 0.10
R8410:Jakmip1 UTSW 5 37,274,828 (GRCm39) missense possibly damaging 0.91
R8779:Jakmip1 UTSW 5 37,386,672 (GRCm39) missense unknown
R8946:Jakmip1 UTSW 5 37,343,084 (GRCm39) critical splice donor site probably null
R8992:Jakmip1 UTSW 5 37,274,882 (GRCm39) missense probably benign 0.23
R9007:Jakmip1 UTSW 5 37,332,857 (GRCm39) missense probably benign 0.04
R9531:Jakmip1 UTSW 5 37,332,407 (GRCm39) missense probably damaging 0.96
R9621:Jakmip1 UTSW 5 37,274,812 (GRCm39) missense unknown
RF014:Jakmip1 UTSW 5 37,331,870 (GRCm39) missense possibly damaging 0.59
T0722:Jakmip1 UTSW 5 37,276,247 (GRCm39) missense probably damaging 1.00
Z1088:Jakmip1 UTSW 5 37,278,330 (GRCm39) missense probably damaging 1.00
Z1177:Jakmip1 UTSW 5 37,332,651 (GRCm39) frame shift probably null
Z1177:Jakmip1 UTSW 5 37,248,927 (GRCm39) missense probably damaging 1.00
Z1190:Jakmip1 UTSW 5 37,331,308 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGAGATGGTCCATCAGGGTG -3'
(R):5'- CCATATCTGGGTCACATTACTGTG -3'

Sequencing Primer
(F):5'- AAGGACCTGAACGAGTGTCTTGTTAC -3'
(R):5'- CACATTACTGTGCCACAATGTATG -3'
Posted On 2016-12-20