Incidental Mutation 'IGL02389:Jakmip1'
ID291694
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Jakmip1
Ensembl Gene ENSMUSG00000113373
Gene Name
SynonymsGababrbp, C330021K24Rik, Marlin-1, 5830437M04Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.617) question?
Stock #IGL02389
Quality Score
Status
Chromosome5
Chromosomal Location37113784-37117473 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 37100843 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 278 (Q278*)
Ref Sequence ENSEMBL: ENSMUSP00000156188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043794] [ENSMUST00000121010] [ENSMUST00000137019] [ENSMUST00000174629] [ENSMUST00000232332]
Predicted Effect probably null
Transcript: ENSMUST00000043794
AA Change: Q278*
SMART Domains Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: Q278*

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 null
Transcript: ENSMUST00000121010
AA Change: Q278*
SMART Domains Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: Q278*

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 null
Transcript: ENSMUST00000137019
AA Change: Q278*
SMART Domains Protein: ENSMUSP00000122584
Gene: ENSMUSG00000063646
AA Change: Q278*

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 null
Transcript: ENSMUST00000174629
AA Change: Q113*
SMART Domains Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: Q113*

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 null
Transcript: ENSMUST00000232332
AA Change: Q278*
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 63,896,483 S11N probably null Het
Aqp9 T C 9: 71,122,906 I200V possibly damaging Het
BC100530 C A 16: 36,367,486 V6F possibly damaging Het
Cntn2 T C 1: 132,525,321 E411G probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dennd3 A G 15: 73,567,056 D1091G probably damaging Het
Dock2 T C 11: 34,698,740 probably benign Het
Dscam T A 16: 96,640,897 I1577F probably benign Het
Egflam A T 15: 7,250,078 N482K probably benign Het
Fam216a T C 5: 122,367,511 T129A probably damaging Het
Fbxo40 T C 16: 36,969,774 M325V probably benign Het
Fbxw8 C T 5: 118,128,955 V148M possibly damaging Het
Fcgbp C T 7: 28,075,171 R57C probably damaging Het
Gnpnat1 A G 14: 45,380,931 probably null Het
Gria2 T C 3: 80,709,422 T408A probably benign Het
H2-T3 A G 17: 36,186,608 M59T probably benign Het
Krtap21-1 C T 16: 89,403,424 G110D unknown Het
Myo7a C T 7: 98,106,991 probably null Het
Nlrp9c T A 7: 26,394,207 Q11L probably benign Het
Olfr1442 A T 19: 12,674,535 D110V probably benign Het
Olfr298 A G 7: 86,489,128 L141P probably damaging Het
Olfr767 A C 10: 129,079,230 I244M probably damaging Het
Olfr790 T A 10: 129,501,070 M62K probably benign Het
Pdzd8 A G 19: 59,301,393 I525T probably benign Het
Pign A T 1: 105,646,781 L280* probably null Het
Pik3r4 T G 9: 105,650,331 I294M possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Prmt3 C T 7: 49,848,758 Q471* probably null Het
Prrc2c A G 1: 162,692,870 F2006L probably damaging Het
Ptger3 C T 3: 157,567,171 R52C probably damaging Het
Rfx2 T C 17: 56,808,325 probably benign Het
Sh3bp4 T C 1: 89,145,148 F573L probably damaging Het
Slc18a2 G T 19: 59,263,301 probably benign Het
Slc26a8 T A 17: 28,638,650 I840F probably benign Het
Slc5a4b A T 10: 76,072,465 Y364* probably null Het
Slitrk1 A G 14: 108,912,322 I319T probably benign Het
Stxbp5l C T 16: 37,208,205 A499T probably benign Het
Tnks2 T A 19: 36,884,103 S951R probably benign Het
Trim30c A G 7: 104,382,174 F478S probably benign Het
Tyro3 C T 2: 119,804,864 probably benign Het
Vmn1r34 A T 6: 66,637,058 L232Q probably damaging Het
Zfp148 T A 16: 33,495,446 C215S probably damaging Het
Zzef1 T A 11: 72,899,538 V2106D possibly damaging Het
Zzef1 C T 11: 72,891,217 P1995S probably benign Het
Other mutations in Jakmip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Jakmip1 APN 5 37085406 nonsense probably null
IGL01350:Jakmip1 APN 5 37085431 missense probably benign 0.01
IGL01613:Jakmip1 APN 5 37100768 missense probably damaging 1.00
IGL01875:Jakmip1 APN 5 37120980 missense probably damaging 0.99
IGL02006:Jakmip1 APN 5 37120987 missense probably damaging 0.99
IGL02225:Jakmip1 APN 5 37104856 missense probably damaging 0.99
R0036:Jakmip1 UTSW 5 37134304 missense probably null 0.38
R0194:Jakmip1 UTSW 5 37134283 missense possibly damaging 0.77
R0442:Jakmip1 UTSW 5 37135553 splice site probably null
R0555:Jakmip1 UTSW 5 37118873 missense probably damaging 0.99
R1053:Jakmip1 UTSW 5 37134249 missense possibly damaging 0.59
R1158:Jakmip1 UTSW 5 37091128 missense possibly damaging 0.94
R1470:Jakmip1 UTSW 5 37100838 missense probably damaging 1.00
R1470:Jakmip1 UTSW 5 37100838 missense probably damaging 1.00
R2339:Jakmip1 UTSW 5 37091199 missense probably benign 0.05
R2397:Jakmip1 UTSW 5 37100743 missense probably damaging 0.99
R2425:Jakmip1 UTSW 5 37141805 nonsense probably null
R2973:Jakmip1 UTSW 5 37091527 missense probably damaging 1.00
R4758:Jakmip1 UTSW 5 37128622 missense probably damaging 0.99
R4918:Jakmip1 UTSW 5 37091275 missense probably damaging 1.00
R5212:Jakmip1 UTSW 5 37104901 missense probably benign 0.05
R5842:Jakmip1 UTSW 5 37107268 missense probably damaging 1.00
R5926:Jakmip1 UTSW 5 37085280 unclassified probably benign
R6258:Jakmip1 UTSW 5 37141760 nonsense probably null
R6776:Jakmip1 UTSW 5 37187154 missense probably damaging 0.97
R6880:Jakmip1 UTSW 5 37105623 missense possibly damaging 0.95
R6961:Jakmip1 UTSW 5 37173353 missense probably damaging 0.98
R6982:Jakmip1 UTSW 5 37124941 missense probably damaging 1.00
R7109:Jakmip1 UTSW 5 37174765 nonsense probably null
R7173:Jakmip1 UTSW 5 37091364 missense probably damaging 1.00
R7293:Jakmip1 UTSW 5 37127473 missense probably benign 0.00
R7294:Jakmip1 UTSW 5 37117460 missense possibly damaging 0.65
R7361:Jakmip1 UTSW 5 37118804 missense probably damaging 1.00
R7384:Jakmip1 UTSW 5 37173207 missense possibly damaging 0.70
R7454:Jakmip1 UTSW 5 37175154 missense probably damaging 0.96
R7477:Jakmip1 UTSW 5 37173571 missense probably benign 0.00
R7579:Jakmip1 UTSW 5 37127458 missense possibly damaging 0.95
R7617:Jakmip1 UTSW 5 37171001 missense possibly damaging 0.85
R7651:Jakmip1 UTSW 5 37134273 missense probably damaging 0.97
R7702:Jakmip1 UTSW 5 37117497 missense probably damaging 1.00
R7822:Jakmip1 UTSW 5 37175180 missense probably damaging 0.99
R7888:Jakmip1 UTSW 5 37104864 missense probably damaging 1.00
R7971:Jakmip1 UTSW 5 37104864 missense probably damaging 1.00
RF014:Jakmip1 UTSW 5 37174526 missense possibly damaging 0.59
T0722:Jakmip1 UTSW 5 37118903 missense probably damaging 1.00
Z1088:Jakmip1 UTSW 5 37120986 missense probably damaging 1.00
Posted On2015-04-16