Incidental Mutation 'R4758:Jakmip1'
ID 358304
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R4758 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 37185679-37307951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37285966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 665 (I665N)
Ref Sequence ENSEMBL: ENSMUSP00000156188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043794] [ENSMUST00000121010] [ENSMUST00000174629] [ENSMUST00000212047] [ENSMUST00000232332]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000043794
SMART Domains Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646

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: I665N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: I665N

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 noncoding transcript
Transcript: ENSMUST00000126527
Predicted Effect probably damaging
Transcript: ENSMUST00000174629
AA Change: I480N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: I480N

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 benign
Transcript: ENSMUST00000212047
Predicted Effect probably damaging
Transcript: ENSMUST00000232332
AA Change: I665N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 T A 3: 36,127,754 (GRCm39) Y119N probably damaging Het
Actn2 T A 13: 12,303,472 (GRCm39) K443* probably null Het
Adgrb2 A G 4: 129,903,143 (GRCm39) N581S probably damaging Het
Afg2a T A 3: 37,487,385 (GRCm39) S416T probably benign Het
Alb A T 5: 90,616,452 (GRCm39) H319L probably benign Het
Aox1 A G 1: 58,371,741 (GRCm39) I802V probably benign Het
Arhgap45 G A 10: 79,866,127 (GRCm39) G995E probably benign Het
Capn12 A C 7: 28,592,148 (GRCm39) T689P possibly damaging Het
Cars1 T C 7: 143,125,304 (GRCm39) S312G probably benign Het
Cast T A 13: 74,887,999 (GRCm39) D216V possibly damaging Het
Ccdc13 C T 9: 121,662,800 (GRCm39) E72K possibly damaging Het
Cd300lg G T 11: 101,944,417 (GRCm39) probably null Het
Cep41 A G 6: 30,671,368 (GRCm39) probably benign Het
Chrna3 A G 9: 54,929,560 (GRCm39) Y93H probably damaging Het
Cic A G 7: 24,991,636 (GRCm39) R1309G possibly damaging Het
Clcnkb A G 4: 141,135,160 (GRCm39) V526A probably benign Het
Clec4a1 G T 6: 122,910,825 (GRCm39) V227F probably damaging Het
Cpa5 C A 6: 30,615,159 (GRCm39) H99N possibly damaging Het
Crem C A 18: 3,327,527 (GRCm39) C4F probably damaging Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Decr2 C A 17: 26,307,914 (GRCm39) E46D probably damaging Het
Dlg1 G A 16: 31,610,570 (GRCm39) V284I possibly damaging Het
Dnah3 T C 7: 119,678,629 (GRCm39) E360G probably benign Het
Dnajc1 A T 2: 18,313,757 (GRCm39) Y121* probably null Het
Dnajc13 A G 9: 104,049,773 (GRCm39) F1783L probably damaging Het
Eps8l2 T A 7: 140,940,286 (GRCm39) D505E probably damaging Het
Eral1 G A 11: 77,966,425 (GRCm39) T251I probably benign Het
Eya3 T C 4: 132,422,196 (GRCm39) probably null Het
Fam120a G A 13: 49,034,333 (GRCm39) T1093I probably benign Het
Fbn2 C T 18: 58,159,458 (GRCm39) A2424T probably benign Het
Git2 G A 5: 114,868,412 (GRCm39) T256M probably damaging Het
Gm9805 A T 17: 22,689,871 (GRCm38) Y34F probably benign Het
Itgb7 T G 15: 102,124,642 (GRCm39) T792P probably benign Het
Kcnt2 T C 1: 140,446,635 (GRCm39) Y677H probably damaging Het
Klhdc4 G A 8: 122,524,783 (GRCm39) P382S probably benign Het
Knl1 TCC TC 2: 118,902,213 (GRCm39) probably null Het
Lamb3 T A 1: 193,022,269 (GRCm39) M1039K possibly damaging Het
Lipm A T 19: 34,078,570 (GRCm39) M1L possibly damaging Het
Lrrc37 A G 11: 103,505,290 (GRCm39) V2226A possibly damaging Het
Magi3 T A 3: 103,922,637 (GRCm39) D1360V probably benign Het
Mier2 C A 10: 79,386,182 (GRCm39) C23F probably damaging Het
Myo1h C T 5: 114,487,643 (GRCm39) R616C probably damaging Het
Nars2 A G 7: 96,622,735 (GRCm39) D187G probably damaging Het
Nbea T C 3: 55,912,824 (GRCm39) M988V probably benign Het
Nlrc5 C A 8: 95,238,956 (GRCm39) Q1465K possibly damaging Het
Nlrp4e T C 7: 23,020,043 (GRCm39) F177L probably benign Het
Oas1a A G 5: 121,045,401 (GRCm39) F47L probably damaging Het
Oas1f A G 5: 120,985,545 (GRCm39) E30G probably damaging Het
Obscn A T 11: 58,894,189 (GRCm39) M6689K unknown Het
Obscn A T 11: 59,026,743 (GRCm39) D153E probably damaging Het
Or52s6 A C 7: 103,092,076 (GRCm39) C85G probably damaging Het
Osmr A T 15: 6,882,036 (GRCm39) I36K probably benign Het
Pcf11 A T 7: 92,310,383 (GRCm39) F535Y probably damaging Het
Pde2a C T 7: 101,160,706 (GRCm39) R886C probably damaging Het
Pik3ca T A 3: 32,492,127 (GRCm39) C242S probably benign Het
Pikfyve T A 1: 65,311,674 (GRCm39) D1925E possibly damaging Het
Plekhm2 A T 4: 141,369,316 (GRCm39) Y123N possibly damaging Het
Pomt2 A T 12: 87,169,652 (GRCm39) V406D probably damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Prdm10 A T 9: 31,273,708 (GRCm39) T985S probably benign Het
Proc T A 18: 32,256,863 (GRCm39) Y268F probably damaging Het
Prrc1 C T 18: 57,517,320 (GRCm39) T365M probably damaging Het
Rasa1 A T 13: 85,382,567 (GRCm39) D446E probably benign Het
Ribc2 T A 15: 85,025,867 (GRCm39) L281Q probably damaging Het
Runx1t1 A G 4: 13,865,907 (GRCm39) D385G probably damaging Het
Sdk2 A G 11: 113,717,880 (GRCm39) S1495P possibly damaging Het
Slc15a3 G T 19: 10,831,726 (GRCm39) probably null Het
Slc43a3 A G 2: 84,774,869 (GRCm39) N149S probably damaging Het
Specc1l A G 10: 75,082,182 (GRCm39) Q543R probably damaging Het
Spef1 T C 2: 131,014,661 (GRCm39) probably null Het
Spns1 A T 7: 125,969,966 (GRCm39) F478Y probably damaging Het
Srebf2 T C 15: 82,080,370 (GRCm39) V821A probably benign Het
Stac3 A G 10: 127,339,214 (GRCm39) M108V possibly damaging Het
Stradb A G 1: 59,027,730 (GRCm39) T87A probably benign Het
Stxbp5l A T 16: 36,954,592 (GRCm39) M906K probably benign Het
Tex14 T C 11: 87,405,311 (GRCm39) V741A probably benign Het
Thoc2l A C 5: 104,668,265 (GRCm39) E929A possibly damaging Het
Tpo C A 12: 30,125,870 (GRCm39) G830C probably damaging Het
Unc79 T A 12: 103,128,080 (GRCm39) C2308* probably null Het
Vmn1r205 T C 13: 22,777,016 (GRCm39) T29A possibly damaging Het
Vmn1r69 G A 7: 10,314,473 (GRCm39) T7I probably benign Het
Vmn2r27 T G 6: 124,208,596 (GRCm39) T50P possibly damaging Het
Wdr83 A G 8: 85,801,867 (GRCm39) Y302H probably benign Het
Xirp2 A T 2: 67,346,879 (GRCm39) E3040V probably damaging Het
Zfp629 C A 7: 127,209,758 (GRCm39) G684W probably 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
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
R5842:Jakmip1 UTSW 5 37,264,612 (GRCm39) missense probably damaging 1.00
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'- TGACCTATCTCCACCTAGAGG -3'
(R):5'- GGTGCTCCATCTTGAACACG -3'

Sequencing Primer
(F):5'- TATCTCCACCTAGAGGGACTG -3'
(R):5'- TCTTGAACACGCAAAGGCATG -3'
Posted On 2015-11-11