Incidental Mutation 'IGL01942:Mapk8ip2'
ID180898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapk8ip2
Ensembl Gene ENSMUSG00000022619
Gene Namemitogen-activated protein kinase 8 interacting protein 2
SynonymsIB2, Jip2, 3230402N03Rik, JNK-interacting protein
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.300) question?
Stock #IGL01942
Quality Score
Status
Chromosome15
Chromosomal Location89453913-89464468 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 89457017 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023291] [ENSMUST00000137755]
Predicted Effect probably null
Transcript: ENSMUST00000023291
SMART Domains Protein: ENSMUSP00000023291
Gene: ENSMUSG00000022619

DomainStartEndE-ValueType
low complexity region 26 40 N/A INTRINSIC
low complexity region 85 104 N/A INTRINSIC
low complexity region 176 194 N/A INTRINSIC
low complexity region 213 227 N/A INTRINSIC
low complexity region 236 249 N/A INTRINSIC
low complexity region 271 295 N/A INTRINSIC
low complexity region 300 324 N/A INTRINSIC
low complexity region 419 437 N/A INTRINSIC
low complexity region 472 490 N/A INTRINSIC
low complexity region 541 555 N/A INTRINSIC
low complexity region 589 598 N/A INTRINSIC
SH3 613 670 2.24e-10 SMART
PTB 684 823 1.19e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137755
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is closely related to MAPK8IP1/IB1/JIP-1, a scaffold protein that is involved in the c-Jun amino-terminal kinase signaling pathway. This protein is expressed in brain and pancreatic cells. It has been shown to interact with, and regulate the activity of MAPK8/JNK1, and MAP2K7/MKK7 kinases. This protein thus is thought to function as a regulator of signal transduction by protein kinase cascade in brain and pancreatic beta-cells. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a null allele are smaller in size and exhibit male infertility. Mice homozygous for a different knock-out allele exhibit behavioral and cerebellar transmission deficits. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 G A 7: 45,986,573 R1017W possibly damaging Het
Arhgef26 A G 3: 62,340,094 R200G probably benign Het
Arid4b A T 13: 14,136,164 probably benign Het
Atp1a2 A C 1: 172,286,309 S369A probably benign Het
Bag3 T A 7: 128,546,300 D546E probably benign Het
Bcl6b T A 11: 70,226,743 Y379F probably damaging Het
Cbln2 T C 18: 86,716,325 V136A probably benign Het
Ccnf A T 17: 24,242,320 D120E probably benign Het
Cd14 T A 18: 36,725,640 H254L possibly damaging Het
Chd3 A G 11: 69,350,105 probably null Het
Csf2rb G A 15: 78,340,492 R150H probably benign Het
Dhx35 T C 2: 158,831,864 L405P probably damaging Het
Dpf1 G A 7: 29,316,502 C383Y probably damaging Het
Dse T A 10: 34,155,993 Q345L probably benign Het
Gnaz A G 10: 75,014,874 M244V probably damaging Het
Gpr65 A T 12: 98,275,715 Y209F possibly damaging Het
Inpp5f T C 7: 128,667,769 I281T probably damaging Het
Kntc1 T C 5: 123,778,267 F721S probably damaging Het
Med24 G A 11: 98,709,682 R646W probably damaging Het
Nup98 A T 7: 102,194,711 F102Y probably damaging Het
Olfr1260 G T 2: 89,977,978 V67L probably benign Het
Olfr150 A T 9: 39,737,666 M284L possibly damaging Het
Olfr354 A G 2: 36,907,857 M304V probably benign Het
Pgap3 T C 11: 98,397,954 Y125C probably damaging Het
Rasl12 T C 9: 65,408,362 V96A probably damaging Het
Rbm20 G A 19: 53,813,443 M127I probably damaging Het
Rnf114 T A 2: 167,512,626 probably null Het
Serpinb1b C T 13: 33,085,311 T9I possibly damaging Het
Setd1b T A 5: 123,163,426 F16I possibly damaging Het
Slc25a28 A G 19: 43,664,508 F238S probably damaging Het
Slc2a2 T C 3: 28,705,803 V30A probably damaging Het
Slc35f4 T C 14: 49,525,505 probably benign Het
Socs4 T A 14: 47,290,650 C347* probably null Het
Spock1 C T 13: 57,430,328 E367K probably damaging Het
Ubap2 C T 4: 41,251,608 R8H probably benign Het
Vmn1r44 T A 6: 89,893,824 M41K probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp575 T C 7: 24,585,815 T134A possibly damaging Het
Other mutations in Mapk8ip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02720:Mapk8ip2 APN 15 89457582 missense probably damaging 1.00
IGL02741:Mapk8ip2 APN 15 89457497 missense probably damaging 1.00
IGL03027:Mapk8ip2 APN 15 89458107 missense probably damaging 1.00
R0504:Mapk8ip2 UTSW 15 89456658 missense possibly damaging 0.62
R2355:Mapk8ip2 UTSW 15 89458965 missense probably benign 0.04
R3026:Mapk8ip2 UTSW 15 89461446 missense probably damaging 1.00
R3430:Mapk8ip2 UTSW 15 89457282 missense possibly damaging 0.86
R4275:Mapk8ip2 UTSW 15 89458995 missense probably damaging 1.00
R4789:Mapk8ip2 UTSW 15 89459038 missense probably damaging 1.00
R4953:Mapk8ip2 UTSW 15 89457228 missense probably benign
R5209:Mapk8ip2 UTSW 15 89459287 missense probably damaging 1.00
R5417:Mapk8ip2 UTSW 15 89457439 missense probably benign 0.16
R5521:Mapk8ip2 UTSW 15 89458804 missense probably damaging 1.00
R6860:Mapk8ip2 UTSW 15 89460452 missense probably damaging 1.00
R7145:Mapk8ip2 UTSW 15 89458998 missense not run
Posted On2014-05-07