Incidental Mutation 'R8441:Mapk8ip3'
ID 656577
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
MMRRC Submission 067885-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.843) question?
Stock # R8441 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 25116480-25155951 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to T at 25139474 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] [ENSMUST00000146706] [ENSMUST00000146923] [ENSMUST00000178969]
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: 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
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 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
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (43/43)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A G 2: 69,087,574 (GRCm39) Y1064H possibly damaging Het
Ahrr T C 13: 74,362,182 (GRCm39) D567G probably benign Het
Aldh1b1 T A 4: 45,802,465 (GRCm39) M1K probably null Het
Ankrd12 A T 17: 66,349,546 (GRCm39) S96T probably benign Het
Arhgef10 A T 8: 15,041,237 (GRCm39) probably benign Het
Bsn G A 9: 107,988,651 (GRCm39) A2367V probably benign Het
Cmpk2 G A 12: 26,527,204 (GRCm39) A398T probably benign Het
Cpn2 A G 16: 30,078,849 (GRCm39) L284P probably damaging Het
Cubn T C 2: 13,432,658 (GRCm39) D1221G probably damaging Het
Dnah7c A G 1: 46,572,398 (GRCm39) K957R probably damaging Het
Eif1ad2 T G 12: 87,786,384 (GRCm39) D98E probably benign Het
Flnb T A 14: 7,896,488 (GRCm38) V893E probably benign Het
Flrt3 C A 2: 140,502,546 (GRCm39) V361L probably benign Het
Fnta G A 8: 26,501,209 (GRCm39) R104* probably null Het
Ggt1 C T 10: 75,415,185 (GRCm39) T233I possibly damaging Het
Gpr37l1 A T 1: 135,094,875 (GRCm39) V123E probably damaging Het
Grpel1 A G 5: 36,622,556 (GRCm39) R7G probably benign Het
H2-M10.5 A T 17: 37,084,199 (GRCm39) I54L probably benign Het
Mcm3 T C 1: 20,884,690 (GRCm39) D271G probably benign Het
Naip6 A G 13: 100,422,265 (GRCm39) V1256A possibly damaging Het
Nipbl A G 15: 8,322,599 (GRCm39) V2604A probably benign Het
Nlrp1b T A 11: 71,073,204 (GRCm39) D213V probably damaging Het
Npbwr1 G A 1: 5,987,397 (GRCm39) A39V possibly damaging Het
Nr6a1 T C 2: 38,632,888 (GRCm39) D191G probably benign Het
Olfml1 T G 7: 107,166,977 (GRCm39) V2G probably benign Het
Or4k38 A T 2: 111,166,131 (GRCm39) Y97* probably null Het
Or5b105 T A 19: 13,080,020 (GRCm39) Y216F probably damaging Het
Otof T C 5: 30,538,200 (GRCm39) K1175E probably damaging Het
Pira13 C A 7: 3,826,301 (GRCm39) E231* probably null Het
Plekhg2 C T 7: 28,060,291 (GRCm39) V989I probably benign Het
Prkcq A G 2: 11,253,037 (GRCm39) D229G probably benign Het
Ptprf A T 4: 118,075,255 (GRCm39) probably benign Het
Rest G T 5: 77,429,766 (GRCm39) Q728H possibly damaging Het
Scube1 A T 15: 83,494,423 (GRCm39) I868N probably damaging Het
Spcs3 A G 8: 54,981,375 (GRCm39) probably null Het
Speg A G 1: 75,387,976 (GRCm39) S1445G possibly damaging Het
Spmap2 C A 10: 79,412,510 (GRCm39) R327L probably damaging Het
Tmem145 T C 7: 25,008,200 (GRCm39) F261S possibly damaging Het
Trav9d-4 A G 14: 53,221,284 (GRCm39) S93G probably benign Het
Trbv5 T A 6: 41,039,517 (GRCm39) C41S probably damaging Het
Trpm5 A G 7: 142,626,171 (GRCm39) S1131P possibly damaging Het
Ttc28 C T 5: 111,325,507 (GRCm39) R313* probably null Het
Ubap2l T C 3: 89,920,007 (GRCm39) T853A unknown Het
Xirp2 T C 2: 67,343,159 (GRCm39) V1800A possibly damaging Het
Zfhx2 A G 14: 55,303,985 (GRCm39) L1333P possibly 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
R0028:Mapk8ip3 UTSW 17 25,123,871 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCTCTGCCAGCTACTATGTG -3'
(R):5'- CTACTGTCTGTGTAGAGGGGAAAC -3'

Sequencing Primer
(F):5'- CTAGGGTATGCGACAAGTCTGTACC -3'
(R):5'- CATGATGGGGTCCAGATAGCTCAC -3'
Posted On 2020-12-28