Incidental Mutation 'R7173:Jakmip1'
ID 558411
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 045265-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R7173 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 37185679-37307951 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 37248708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 123 (G123S)
Ref Sequence ENSEMBL: ENSMUSP00000122584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043794] [ENSMUST00000121010] [ENSMUST00000137019] [ENSMUST00000172917] [ENSMUST00000173836] [ENSMUST00000174097] [ENSMUST00000174629] [ENSMUST00000232332]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000043794
AA Change: G123S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: G123S

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: G123S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: G123S

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 damaging
Transcript: ENSMUST00000137019
AA Change: G123S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122584
Gene: ENSMUSG00000063646
AA Change: G123S

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 damaging
Transcript: ENSMUST00000172917
AA Change: G123S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133913
Gene: ENSMUSG00000063646
AA Change: G123S

DomainStartEndE-ValueType
coiled coil region 13 101 N/A INTRINSIC
coiled coil region 133 180 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000173836
AA Change: G123S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133767
Gene: ENSMUSG00000063646
AA Change: G123S

DomainStartEndE-ValueType
coiled coil region 13 101 N/A INTRINSIC
low complexity region 131 142 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174097
SMART Domains Protein: ENSMUSP00000133770
Gene: ENSMUSG00000063646

DomainStartEndE-ValueType
coiled coil region 13 74 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: G123S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.1078 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (79/79)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,833,848 (GRCm39) V403I possibly damaging Het
Actn1 G A 12: 80,224,033 (GRCm39) R475C possibly damaging Het
Adam11 T C 11: 102,662,757 (GRCm39) L191P possibly damaging Het
Adam21 G T 12: 81,606,008 (GRCm39) Q585K probably benign Het
Akap3 T C 6: 126,841,729 (GRCm39) V116A probably benign Het
Alpk1 A T 3: 127,478,024 (GRCm39) Y74* probably null Het
Alx4 G T 2: 93,473,202 (GRCm39) G67C possibly damaging Het
Ankrd17 A T 5: 90,407,976 (GRCm39) C1414S possibly damaging Het
Ankrd44 T C 1: 54,805,550 (GRCm39) D170G probably damaging Het
Arpc2 T A 1: 74,303,531 (GRCm39) M266K probably damaging Het
Atp12a A T 14: 56,621,837 (GRCm39) N794I probably damaging Het
Cabin1 A G 10: 75,582,396 (GRCm39) L340P probably benign Het
Ccer1 A T 10: 97,529,217 (GRCm39) probably benign Het
Cfap73 A T 5: 120,772,279 (GRCm39) Y8N probably damaging Het
Cfhr4 C A 1: 139,659,415 (GRCm39) E705* probably null Het
Cln3 T C 7: 126,178,589 (GRCm39) T173A probably damaging Het
Cxcl3 A T 5: 90,934,008 (GRCm39) probably benign Het
Cyp2c66 G C 19: 39,159,401 (GRCm39) C284S probably benign Het
Dnajc22 T C 15: 98,999,187 (GRCm39) V124A probably benign Het
Dync1h1 C G 12: 110,568,173 (GRCm39) D45E probably benign Het
Elmod3 A T 6: 72,554,235 (GRCm39) probably null Het
Enpp3 A C 10: 24,649,945 (GRCm39) V827G probably damaging Het
Esyt2 T C 12: 116,327,154 (GRCm39) I574T probably benign Het
Ext2 A T 2: 93,643,957 (GRCm39) I108N probably damaging Het
Fam186a T C 15: 99,843,531 (GRCm39) I904M unknown Het
Fmnl2 T C 2: 53,004,202 (GRCm39) I638T unknown Het
Fndc3c1 G C X: 105,478,679 (GRCm39) L724V possibly damaging Het
Fras1 G T 5: 96,925,937 (GRCm39) A3714S probably damaging Het
Fsd1 C A 17: 56,303,696 (GRCm39) R479S possibly damaging Het
Gaa C T 11: 119,169,817 (GRCm39) L624F probably damaging Het
Galnt2 G A 8: 125,032,292 (GRCm39) V86I probably benign Het
Gdap1l1 T G 2: 163,280,608 (GRCm39) V48G probably damaging Het
Gm10549 A G 18: 33,597,462 (GRCm39) T83A unknown Het
Gm11437 T G 11: 84,055,374 (GRCm39) T81P probably benign Het
Gm16253 T C 3: 96,487,979 (GRCm39) probably null Het
Gprc6a A T 10: 51,504,595 (GRCm39) M83K probably benign Het
Grik5 T C 7: 24,767,587 (GRCm39) D31G probably damaging Het
Hcrtr2 A G 9: 76,167,013 (GRCm39) L108P probably damaging Het
Herc2 T A 7: 55,853,575 (GRCm39) L3689Q probably damaging Het
Igf2bp1 T C 11: 95,859,290 (GRCm39) M407V probably benign Het
Irgq A T 7: 24,233,185 (GRCm39) E342V probably damaging Het
Itih2 A T 2: 10,109,974 (GRCm39) I593N probably damaging Het
Ivd G T 2: 118,701,870 (GRCm39) G101C probably damaging Het
Kif14 T A 1: 136,406,908 (GRCm39) I580N probably damaging Het
Kmt2e A T 5: 23,669,855 (GRCm39) Y114F probably damaging Het
Ly6g5b C A 17: 35,333,680 (GRCm39) C99F probably damaging Het
Map3k20 C T 2: 72,271,758 (GRCm39) P629S probably benign Het
Mpl A G 4: 118,305,741 (GRCm39) probably null Het
Muc4 T C 16: 32,582,862 (GRCm39) F476L probably damaging Het
Mup18 T C 4: 61,590,199 (GRCm39) T110A probably benign Het
Nlrp9a A G 7: 26,257,603 (GRCm39) D407G probably benign Het
Nmur1 G A 1: 86,314,190 (GRCm39) R359C probably benign Het
Or5ac24 T C 16: 59,165,510 (GRCm39) T185A probably benign Het
Or5p64 C T 7: 107,854,955 (GRCm39) C130Y possibly damaging Het
Panx3 A T 9: 37,572,596 (GRCm39) M318K probably damaging Het
Pcnx1 T C 12: 81,999,777 (GRCm39) probably null Het
Pcsk5 T C 19: 17,455,241 (GRCm39) Y1063C possibly damaging Het
Psme3ip1 A T 8: 95,315,486 (GRCm39) F15L probably damaging Het
Rere G A 4: 150,553,195 (GRCm39) R129H probably damaging Het
Rpgrip1 A G 14: 52,349,633 (GRCm39) Y7C possibly damaging Het
Serpina6 T C 12: 103,613,253 (GRCm39) N349S possibly damaging Het
Slc10a1 T G 12: 81,002,750 (GRCm39) E296A probably damaging Het
Slc2a9 A T 5: 38,610,214 (GRCm39) probably null Het
Sptan1 T A 2: 29,873,221 (GRCm39) M138K probably benign Het
Tbl3 T C 17: 24,924,233 (GRCm39) T175A probably benign Het
Tbrg4 T C 11: 6,570,810 (GRCm39) T221A possibly damaging Het
Tenm2 T C 11: 35,932,378 (GRCm39) T1739A probably damaging Het
Tmed5 T C 5: 108,280,187 (GRCm39) D35G probably benign Het
Tnfsf15 A T 4: 63,647,889 (GRCm39) S250R probably damaging Het
Tnpo2 G T 8: 85,781,707 (GRCm39) V830F probably benign Het
Ttbk2 G T 2: 120,570,592 (GRCm39) S1187Y probably damaging Het
Ttn G A 2: 76,625,029 (GRCm39) T15183M possibly damaging Het
Tubgcp3 T C 8: 12,689,259 (GRCm39) probably null Het
Vmn1r38 T C 6: 66,753,278 (GRCm39) I279M possibly damaging Het
Vmn1r49 A T 6: 90,049,250 (GRCm39) Y251N possibly damaging Het
Vmn1r66 C T 7: 10,008,482 (GRCm39) V184I probably benign Het
Vmn2r26 T A 6: 124,038,255 (GRCm39) M610K probably benign Het
Xrn2 C T 2: 146,884,013 (GRCm39) P591S 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
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
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
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'- GCCTACATCTCGGAACTCAAGG -3'
(R):5'- AGTTCACGTACCAGTCTGC -3'

Sequencing Primer
(F):5'- TCGGAACTCAAGGCCAAGCTG -3'
(R):5'- TTCACGTACCAGTCTGCGGATG -3'
Posted On 2019-06-26