Incidental Mutation 'R0028:Mapk8ip3'
ID 15452
Institutional Source Beutler Lab
Gene Symbol Mapk8ip3
Ensembl Gene ENSMUSG00000024163
Gene Name mitogen-activated protein kinase 8 interacting protein 3
Synonyms JSAP1c, JSAP1b, JNK-interacting protein 3, Jip3, D17Wsu15e, JSAP1, JSAP1d, Syd2, sunday driver 2, JSAP1a, JUN/SAPK-associated protein 1, c-Jun NH2-terminal kinase (JNK)/stress-activated protein kinase-associated protein 1
Accession Numbers
Essential gene? Probably essential (E-score: 0.843) question?
Stock # R0028 (G1)
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 25116480-25155951 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 25123871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088345] [ENSMUST00000115228] [ENSMUST00000115229] [ENSMUST00000117509] [ENSMUST00000119115] [ENSMUST00000120035] [ENSMUST00000121723] [ENSMUST00000121787] [ENSMUST00000178969] [ENSMUST00000146923] [ENSMUST00000146706]
AlphaFold Q9ESN9
Predicted Effect probably benign
Transcript: ENSMUST00000088345
SMART Domains Protein: ENSMUSP00000085683
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 186 1.4e-72 PFAM
low complexity region 236 249 N/A INTRINSIC
low complexity region 261 270 N/A INTRINSIC
PDB:2W83|D 417 472 6e-20 PDB
coiled coil region 525 555 N/A INTRINSIC
low complexity region 582 596 N/A INTRINSIC
low complexity region 754 769 N/A INTRINSIC
low complexity region 893 901 N/A INTRINSIC
low complexity region 928 940 N/A INTRINSIC
SCOP:d1flga_ 987 1167 4e-8 SMART
Blast:WD40 1075 1116 6e-18 BLAST
low complexity region 1260 1276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115228
SMART Domains Protein: ENSMUSP00000110883
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 186 1.4e-72 PFAM
low complexity region 236 249 N/A INTRINSIC
low complexity region 261 270 N/A INTRINSIC
PDB:2W83|D 411 466 7e-20 PDB
low complexity region 567 581 N/A INTRINSIC
low complexity region 739 754 N/A INTRINSIC
low complexity region 878 886 N/A INTRINSIC
low complexity region 913 925 N/A INTRINSIC
SCOP:d1flga_ 972 1152 3e-8 SMART
Blast:WD40 1060 1101 6e-18 BLAST
low complexity region 1245 1261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115229
SMART Domains Protein: ENSMUSP00000110884
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 184 2.9e-60 PFAM
low complexity region 244 257 N/A INTRINSIC
low complexity region 269 278 N/A INTRINSIC
Pfam:JIP_LZII 423 493 3.1e-32 PFAM
coiled coil region 533 563 N/A INTRINSIC
low complexity region 590 604 N/A INTRINSIC
low complexity region 762 777 N/A INTRINSIC
low complexity region 901 909 N/A INTRINSIC
low complexity region 936 948 N/A INTRINSIC
SCOP:d1flga_ 995 1175 4e-8 SMART
Blast:WD40 1083 1124 7e-18 BLAST
low complexity region 1268 1284 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117509
SMART Domains Protein: ENSMUSP00000112712
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 186 1.4e-72 PFAM
low complexity region 238 247 N/A INTRINSIC
PDB:2W83|D 394 449 7e-20 PDB
coiled coil region 502 532 N/A INTRINSIC
low complexity region 559 573 N/A INTRINSIC
low complexity region 731 746 N/A INTRINSIC
low complexity region 870 878 N/A INTRINSIC
low complexity region 905 917 N/A INTRINSIC
SCOP:d1flga_ 964 1144 3e-8 SMART
Blast:WD40 1052 1093 6e-18 BLAST
low complexity region 1237 1253 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119115
SMART Domains Protein: ENSMUSP00000112955
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 186 1.3e-72 PFAM
low complexity region 229 238 N/A INTRINSIC
PDB:2W83|D 385 440 7e-20 PDB
coiled coil region 493 523 N/A INTRINSIC
low complexity region 550 564 N/A INTRINSIC
low complexity region 722 737 N/A INTRINSIC
low complexity region 861 869 N/A INTRINSIC
low complexity region 896 908 N/A INTRINSIC
SCOP:d1flga_ 955 1135 3e-8 SMART
Blast:WD40 1043 1084 5e-18 BLAST
low complexity region 1228 1244 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120035
SMART Domains Protein: ENSMUSP00000114084
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 186 1.4e-72 PFAM
low complexity region 235 248 N/A INTRINSIC
low complexity region 260 269 N/A INTRINSIC
PDB:2W83|D 416 471 6e-20 PDB
coiled coil region 524 554 N/A INTRINSIC
low complexity region 581 595 N/A INTRINSIC
low complexity region 753 768 N/A INTRINSIC
low complexity region 892 900 N/A INTRINSIC
low complexity region 927 939 N/A INTRINSIC
SCOP:d1flga_ 986 1166 3e-8 SMART
Blast:WD40 1074 1115 6e-18 BLAST
low complexity region 1259 1275 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121723
SMART Domains Protein: ENSMUSP00000113698
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 186 1e-72 PFAM
low complexity region 230 239 N/A INTRINSIC
PDB:2W83|D 386 441 7e-20 PDB
coiled coil region 494 524 N/A INTRINSIC
low complexity region 551 565 N/A INTRINSIC
low complexity region 723 738 N/A INTRINSIC
low complexity region 862 870 N/A INTRINSIC
low complexity region 897 909 N/A INTRINSIC
SCOP:d1flga_ 956 1136 3e-8 SMART
Blast:WD40 1044 1085 5e-18 BLAST
low complexity region 1229 1245 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121787
SMART Domains Protein: ENSMUSP00000113753
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 186 3.8e-73 PFAM
low complexity region 230 239 N/A INTRINSIC
PDB:2W83|D 380 435 8e-20 PDB
coiled coil region 488 518 N/A INTRINSIC
low complexity region 545 559 N/A INTRINSIC
low complexity region 717 732 N/A INTRINSIC
low complexity region 856 864 N/A INTRINSIC
low complexity region 891 903 N/A INTRINSIC
SCOP:d1flga_ 950 1130 3e-8 SMART
Blast:WD40 1038 1079 6e-18 BLAST
low complexity region 1223 1239 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178969
SMART Domains Protein: ENSMUSP00000136924
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 186 1.1e-72 PFAM
low complexity region 236 249 N/A INTRINSIC
low complexity region 261 270 N/A INTRINSIC
PDB:2W83|D 417 472 6e-20 PDB
coiled coil region 525 555 N/A INTRINSIC
low complexity region 582 596 N/A INTRINSIC
low complexity region 754 769 N/A INTRINSIC
low complexity region 893 901 N/A INTRINSIC
low complexity region 928 940 N/A INTRINSIC
SCOP:d1flga_ 987 1167 3e-8 SMART
Blast:WD40 1075 1116 6e-18 BLAST
low complexity region 1260 1276 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146923
SMART Domains Protein: ENSMUSP00000114802
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
Pfam:Jnk-SapK_ap_N 29 186 1.4e-72 PFAM
low complexity region 236 249 N/A INTRINSIC
low complexity region 261 270 N/A INTRINSIC
PDB:2W83|D 417 472 6e-20 PDB
coiled coil region 525 555 N/A INTRINSIC
low complexity region 582 596 N/A INTRINSIC
low complexity region 754 769 N/A INTRINSIC
low complexity region 893 901 N/A INTRINSIC
low complexity region 928 940 N/A INTRINSIC
SCOP:d1flga_ 987 1167 4e-8 SMART
Blast:WD40 1075 1116 6e-18 BLAST
low complexity region 1260 1276 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133198
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144336
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125648
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132258
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156663
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152486
Predicted Effect probably benign
Transcript: ENSMUST00000146706
SMART Domains Protein: ENSMUSP00000118422
Gene: ENSMUSG00000024163

DomainStartEndE-ValueType
low complexity region 55 64 N/A INTRINSIC
Pfam:JIP_LZII 203 235 1.6e-17 PFAM
Coding Region Coverage
  • 1x: 80.7%
  • 3x: 72.7%
  • 10x: 50.3%
  • 20x: 30.1%
Validation Efficiency 96% (74/77)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene shares similarity with the product of Drosophila syd gene, required for the functional interaction of kinesin I with axonal cargo. Studies of the similar gene in mouse suggested that this protein may interact with, and regulate the activity of numerous protein kinases of the JNK signaling pathway, and thus function as a scaffold protein in neuronal cells. The C. elegans counterpart of this gene is found to regulate synaptic vesicle transport possibly by integrating JNK signaling and kinesin-1 transport. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene results in impaired lung morphogenesis, causes absence of the telencephalic commissure with multiple defects in brain development and axon guidance, may affect synaptic transmission, and invariably leads to neonatal death due to respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,596,698 (GRCm39) F384L probably benign Het
AC159748.1 T C 10: 5,542,006 (GRCm38) silent Het
Adamts12 C T 15: 11,215,710 (GRCm39) R244C probably damaging Het
Bms1 T C 6: 118,393,480 (GRCm39) I131V probably benign Het
Ccdc107 A G 4: 43,495,549 (GRCm39) T151A probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col4a4 A G 1: 82,465,231 (GRCm39) probably null Het
Creb1 A G 1: 64,609,307 (GRCm39) D126G probably damaging Het
Ddb1 T A 19: 10,596,610 (GRCm39) V443E probably damaging Het
Dnmt3a T A 12: 3,950,337 (GRCm39) S634T probably damaging Het
Fras1 A C 5: 96,825,175 (GRCm39) N1455T probably benign Het
Fyb1 A G 15: 6,674,395 (GRCm39) probably benign Het
Gpr141 C T 13: 19,936,599 (GRCm39) V59M probably damaging Het
Ikbke T C 1: 131,199,921 (GRCm39) I222V possibly damaging Het
Macf1 A T 4: 123,275,895 (GRCm39) H6222Q probably damaging Het
Phactr1 A T 13: 43,210,655 (GRCm39) D74V probably damaging Het
Prickle2 T C 6: 92,399,323 (GRCm39) I185V probably benign Het
Rnasel A T 1: 153,630,465 (GRCm39) D327V probably benign Het
Slc25a13 T C 6: 6,181,047 (GRCm39) N46D probably benign Het
Slc28a2 T A 2: 122,282,083 (GRCm39) F261L probably damaging Het
Slc6a15 A T 10: 103,252,541 (GRCm39) Y568F probably benign Het
Slc7a1 A G 5: 148,272,321 (GRCm39) V452A probably benign Het
Tectb T C 19: 55,183,109 (GRCm39) I330T probably benign Het
Tmem92 C T 11: 94,669,778 (GRCm39) V118I possibly damaging Het
Tmf1 T C 6: 97,135,059 (GRCm39) E985G probably damaging Het
Traf5 T A 1: 191,758,421 (GRCm39) probably benign Het
Trip11 T C 12: 101,851,016 (GRCm39) E731G probably damaging Het
Unc5a A G 13: 55,151,726 (GRCm39) S50G possibly damaging Het
Wrnip1 T C 13: 33,004,280 (GRCm39) L517P probably damaging Het
Zfp202 T A 9: 40,123,048 (GRCm39) H603Q probably damaging Het
Other mutations in Mapk8ip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Mapk8ip3 APN 17 25,119,793 (GRCm39) missense probably damaging 1.00
IGL01018:Mapk8ip3 APN 17 25,118,693 (GRCm39) splice site probably benign
IGL01066:Mapk8ip3 APN 17 25,120,692 (GRCm39) missense probably benign 0.00
IGL01656:Mapk8ip3 APN 17 25,137,003 (GRCm39) missense probably damaging 0.99
IGL01991:Mapk8ip3 APN 17 25,146,835 (GRCm39) missense possibly damaging 0.78
IGL02014:Mapk8ip3 APN 17 25,122,254 (GRCm39) splice site probably benign
IGL02219:Mapk8ip3 APN 17 25,118,532 (GRCm39) missense probably damaging 1.00
IGL03006:Mapk8ip3 APN 17 25,120,489 (GRCm39) missense probably benign
ANU74:Mapk8ip3 UTSW 17 25,119,551 (GRCm39) missense possibly damaging 0.94
FR4737:Mapk8ip3 UTSW 17 25,121,093 (GRCm39) splice site probably null
R0401:Mapk8ip3 UTSW 17 25,128,145 (GRCm39) intron probably benign
R0496:Mapk8ip3 UTSW 17 25,133,424 (GRCm39) splice site probably benign
R1456:Mapk8ip3 UTSW 17 25,125,923 (GRCm39) missense probably damaging 1.00
R1503:Mapk8ip3 UTSW 17 25,123,897 (GRCm39) missense probably damaging 1.00
R1554:Mapk8ip3 UTSW 17 25,122,033 (GRCm39) missense probably benign 0.14
R1680:Mapk8ip3 UTSW 17 25,119,985 (GRCm39) missense probably damaging 1.00
R1733:Mapk8ip3 UTSW 17 25,155,824 (GRCm39) missense possibly damaging 0.70
R1741:Mapk8ip3 UTSW 17 25,118,828 (GRCm39) missense probably damaging 1.00
R1750:Mapk8ip3 UTSW 17 25,133,433 (GRCm39) missense probably null 1.00
R1774:Mapk8ip3 UTSW 17 25,143,119 (GRCm39) critical splice donor site probably null
R1845:Mapk8ip3 UTSW 17 25,133,557 (GRCm39) missense probably benign 0.29
R1911:Mapk8ip3 UTSW 17 25,123,025 (GRCm39) missense probably benign 0.00
R1993:Mapk8ip3 UTSW 17 25,133,562 (GRCm39) missense probably damaging 1.00
R2512:Mapk8ip3 UTSW 17 25,133,677 (GRCm39) nonsense probably null
R2656:Mapk8ip3 UTSW 17 25,131,781 (GRCm39) missense probably damaging 1.00
R2990:Mapk8ip3 UTSW 17 25,124,266 (GRCm39) missense probably benign 0.00
R4587:Mapk8ip3 UTSW 17 25,123,761 (GRCm39) missense probably damaging 1.00
R4617:Mapk8ip3 UTSW 17 25,123,761 (GRCm39) missense probably damaging 1.00
R4627:Mapk8ip3 UTSW 17 25,122,267 (GRCm39) missense probably benign
R4649:Mapk8ip3 UTSW 17 25,123,726 (GRCm39) missense probably damaging 1.00
R4868:Mapk8ip3 UTSW 17 25,120,389 (GRCm39) missense probably benign 0.04
R4903:Mapk8ip3 UTSW 17 25,120,183 (GRCm39) missense probably benign
R4915:Mapk8ip3 UTSW 17 25,128,127 (GRCm39) missense possibly damaging 0.75
R5447:Mapk8ip3 UTSW 17 25,118,163 (GRCm39) missense probably benign
R5642:Mapk8ip3 UTSW 17 25,122,285 (GRCm39) missense possibly damaging 0.63
R6320:Mapk8ip3 UTSW 17 25,125,879 (GRCm39) missense probably damaging 0.99
R6900:Mapk8ip3 UTSW 17 25,128,097 (GRCm39) splice site probably null
R7178:Mapk8ip3 UTSW 17 25,120,728 (GRCm39) missense probably benign 0.02
R7273:Mapk8ip3 UTSW 17 25,125,148 (GRCm39) missense probably benign 0.00
R7317:Mapk8ip3 UTSW 17 25,120,692 (GRCm39) missense probably benign 0.00
R7323:Mapk8ip3 UTSW 17 25,120,135 (GRCm39) missense probably benign
R7701:Mapk8ip3 UTSW 17 25,120,378 (GRCm39) missense possibly damaging 0.93
R7873:Mapk8ip3 UTSW 17 25,125,146 (GRCm39) missense probably benign 0.01
R8070:Mapk8ip3 UTSW 17 25,120,078 (GRCm39) critical splice donor site probably null
R8314:Mapk8ip3 UTSW 17 25,120,748 (GRCm39) missense probably benign 0.09
R8356:Mapk8ip3 UTSW 17 25,123,925 (GRCm39) missense probably damaging 1.00
R8441:Mapk8ip3 UTSW 17 25,139,474 (GRCm39) intron probably benign
R8537:Mapk8ip3 UTSW 17 25,120,652 (GRCm39) nonsense probably null
R8802:Mapk8ip3 UTSW 17 25,124,206 (GRCm39) missense probably damaging 1.00
R8864:Mapk8ip3 UTSW 17 25,118,492 (GRCm39) missense probably damaging 1.00
R8918:Mapk8ip3 UTSW 17 25,131,727 (GRCm39) missense probably damaging 1.00
R9312:Mapk8ip3 UTSW 17 25,146,925 (GRCm39) critical splice acceptor site probably null
R9599:Mapk8ip3 UTSW 17 25,118,124 (GRCm39) missense probably damaging 1.00
R9638:Mapk8ip3 UTSW 17 25,118,023 (GRCm39) missense probably benign
R9640:Mapk8ip3 UTSW 17 25,155,647 (GRCm39) missense possibly damaging 0.46
R9723:Mapk8ip3 UTSW 17 25,132,585 (GRCm39) missense possibly damaging 0.83
X0024:Mapk8ip3 UTSW 17 25,122,947 (GRCm39) missense possibly damaging 0.69
Posted On 2012-12-21