Incidental Mutation 'R6245:Mapk8ip1'
ID 505505
Institutional Source Beutler Lab
Gene Symbol Mapk8ip1
Ensembl Gene ENSMUSG00000027223
Gene Name mitogen-activated protein kinase 8 interacting protein 1
Synonyms Skip, IB1, Prkm8ip, MAPK8IP1, mjip-2a, JIP-1, Jip1
MMRRC Submission 044403-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # R6245 (G1)
Quality Score 80.0076
Status Not validated
Chromosome 2
Chromosomal Location 92214021-92231608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 92219589 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 81 (G81C)
Ref Sequence ENSEMBL: ENSMUSP00000050773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050312] [ENSMUST00000111279] [ENSMUST00000111280]
AlphaFold Q9WVI9
PDB Structure Structural basis for the selective inhibition of JNK1 by the scaffolding protein JIP1 and SP600125 [X-RAY DIFFRACTION]
Structural basis for the selective inhibition of JNK1 by the scaffolding protein JIP1 and SP600125 [X-RAY DIFFRACTION]
Crystal Structure of JNK1-alpha1 isoform [X-RAY DIFFRACTION]
Crystal Structure of JNK1-alpha1 isoform complex with a biaryl tetrazol (A-82118) [X-RAY DIFFRACTION]
Structural and functional analysis of quercetagetin, a natural JNK1 inhibitor [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000050312
AA Change: G81C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223
AA Change: G81C

DomainStartEndE-ValueType
low complexity region 6 24 N/A INTRINSIC
low complexity region 38 51 N/A INTRINSIC
low complexity region 71 87 N/A INTRINSIC
low complexity region 98 119 N/A INTRINSIC
low complexity region 242 254 N/A INTRINSIC
low complexity region 462 477 N/A INTRINSIC
SH3 487 544 2.62e-11 SMART
PTB 558 700 1.2e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111279
AA Change: G72C

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223
AA Change: G72C

DomainStartEndE-ValueType
low complexity region 29 42 N/A INTRINSIC
low complexity region 62 78 N/A INTRINSIC
low complexity region 89 110 N/A INTRINSIC
low complexity region 233 245 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
SH3 478 535 2.62e-11 SMART
PTB 549 691 1.2e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111280
SMART Domains Protein: ENSMUSP00000106911
Gene: ENSMUSG00000044916

DomainStartEndE-ValueType
transmembrane domain 10 29 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183506
Meta Mutation Damage Score 0.0844 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a regulator of the pancreatic beta-cell function. It is highly similar to JIP-1, a mouse protein known to be a regulator of c-Jun amino-terminal kinase (Mapk8). This protein has been shown to prevent MAPK8 mediated activation of transcription factors, and to decrease IL-1 beta and MAP kinase kinase 1 (MEKK1) induced apoptosis in pancreatic beta cells. This protein also functions as a DNA-binding transactivator of the glucose transporter GLUT2. RE1-silencing transcription factor (REST) is reported to repress the expression of this gene in insulin-secreting beta cells. This gene is found to be mutated in a type 2 diabetes family, and thus is thought to be a susceptibility gene for type 2 diabetes. [provided by RefSeq, May 2011]
PHENOTYPE: Homozygous mutation of this gene results in a decreased susceptibility to ischemic brain injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,026,249 (GRCm39) I937T probably damaging Het
Adgrl3 T A 5: 81,836,403 (GRCm39) N720K probably benign Het
Akr1c21 T G 13: 4,625,231 (GRCm39) V54G possibly damaging Het
Alpi G T 1: 87,028,556 (GRCm39) D111E probably damaging Het
Armc3 C T 2: 19,253,516 (GRCm39) T219M probably damaging Het
Bms1 T A 6: 118,373,797 (GRCm39) E780V probably damaging Het
Ccdc159 T C 9: 21,846,864 (GRCm39) S244P probably damaging Het
Cdon T C 9: 35,388,235 (GRCm39) W737R probably damaging Het
Chdh T A 14: 29,757,262 (GRCm39) V395D probably damaging Het
Col22a1 C A 15: 71,845,665 (GRCm39) D366Y probably damaging Het
Cplane1 T C 15: 8,207,902 (GRCm39) Y218H probably benign Het
Crnkl1 T A 2: 145,770,051 (GRCm39) N264I probably benign Het
Ctnnd2 T C 15: 30,905,894 (GRCm39) L847P probably damaging Het
Cyp4a31 A C 4: 115,428,545 (GRCm39) T382P possibly damaging Het
Dcaf8 A T 1: 171,993,434 (GRCm39) M1L probably benign Het
Ddx31 T A 2: 28,734,994 (GRCm39) F52I probably benign Het
Dynlt5 A G 4: 102,845,864 (GRCm39) N32S probably benign Het
Efcab3 A T 11: 104,675,834 (GRCm39) Y1542F probably benign Het
Eps15 G A 4: 109,240,063 (GRCm39) S852N possibly damaging Het
Fchsd1 A T 18: 38,095,828 (GRCm39) L552Q probably damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Frem2 T C 3: 53,563,245 (GRCm39) M421V probably benign Het
Gm1110 T G 9: 26,832,043 (GRCm39) H36P probably benign Het
Hadha C T 5: 30,325,042 (GRCm39) probably null Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Intu C A 3: 40,629,756 (GRCm39) T362K probably damaging Het
Jaml C T 9: 45,009,217 (GRCm39) T248I probably damaging Het
Kcnj1 A T 9: 32,308,163 (GRCm39) S176C probably damaging Het
Kcnj9 A G 1: 172,153,704 (GRCm39) L140P probably damaging Het
Kif7 T C 7: 79,351,891 (GRCm39) K957R probably damaging Het
Klc4 T A 17: 46,947,605 (GRCm39) I366F probably damaging Het
Lamb2 A G 9: 108,365,398 (GRCm39) probably null Het
Madd T C 2: 91,008,449 (GRCm39) D151G probably benign Het
Man2a1 C A 17: 65,017,821 (GRCm39) A689E probably damaging Het
Msmp T C 4: 43,583,909 (GRCm39) Y48C probably damaging Het
Muc6 T C 7: 141,235,086 (GRCm39) N567S probably damaging Het
Nrap A G 19: 56,342,653 (GRCm39) Y748H probably damaging Het
Nrap C T 19: 56,368,307 (GRCm39) A192T possibly damaging Het
Or2p2 T A 13: 21,256,860 (GRCm39) T204S possibly damaging Het
Or2y14 T A 11: 49,404,992 (GRCm39) F176I possibly damaging Het
Or5w15 G C 2: 87,568,240 (GRCm39) Q143E possibly damaging Het
Pcdhb8 T G 18: 37,490,222 (GRCm39) D633E possibly damaging Het
Pcdhb9 G A 18: 37,536,207 (GRCm39) V734M probably damaging Het
Plscr1 T C 9: 92,141,374 (GRCm39) Y21H unknown Het
Ptk2b G T 14: 66,400,515 (GRCm39) P767T probably damaging Het
Ptprz1 T C 6: 23,051,989 (GRCm39) Y1424H probably damaging Het
Sec31a T A 5: 100,534,043 (GRCm39) Q118L probably benign Het
Selenop A G 15: 3,304,216 (GRCm39) S21G probably damaging Het
Shank1 G A 7: 44,001,677 (GRCm39) S1132N unknown Het
Slf1 A G 13: 77,232,502 (GRCm39) L534P probably damaging Het
Sparcl1 T A 5: 104,233,013 (GRCm39) H596L probably damaging Het
Spocd1 C T 4: 129,850,901 (GRCm39) probably null Het
Tbc1d24 A T 17: 24,404,967 (GRCm39) I59N probably damaging Het
Tjp3 G A 10: 81,113,110 (GRCm39) T580I probably benign Het
Tmem154 C T 3: 84,591,603 (GRCm39) T51M possibly damaging Het
Tmem8b G A 4: 43,690,246 (GRCm39) V894I probably benign Het
Trbv20 A T 6: 41,165,840 (GRCm39) L88F possibly damaging Het
Tssk2 A C 16: 17,716,812 (GRCm39) I72L possibly damaging Het
Tub T A 7: 108,626,265 (GRCm39) I267N probably damaging Het
Vmn2r104 A T 17: 20,261,829 (GRCm39) F434I possibly damaging Het
Vmn2r42 T C 7: 8,195,733 (GRCm39) N471S probably damaging Het
Vmn2r94 C G 17: 18,478,385 (GRCm39) G121R probably damaging Het
Wdr72 T C 9: 74,055,505 (GRCm39) S245P probably damaging Het
Zbtb42 A G 12: 112,645,969 (GRCm39) Y48C probably damaging Het
Zdbf2 T C 1: 63,343,592 (GRCm39) V657A possibly damaging Het
Zfp768 A T 7: 126,943,263 (GRCm39) C288* probably null Het
Zfp988 T A 4: 147,416,470 (GRCm39) C301* probably null Het
Other mutations in Mapk8ip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Mapk8ip1 APN 2 92,215,533 (GRCm39) missense probably benign 0.06
IGL01538:Mapk8ip1 APN 2 92,219,319 (GRCm39) critical splice donor site probably null
IGL02089:Mapk8ip1 APN 2 92,216,220 (GRCm39) missense probably damaging 1.00
IGL02177:Mapk8ip1 APN 2 92,217,092 (GRCm39) missense probably damaging 1.00
IGL03032:Mapk8ip1 APN 2 92,216,958 (GRCm39) missense probably damaging 1.00
IGL03180:Mapk8ip1 APN 2 92,217,257 (GRCm39) missense possibly damaging 0.91
R0243:Mapk8ip1 UTSW 2 92,216,289 (GRCm39) missense probably damaging 1.00
R0483:Mapk8ip1 UTSW 2 92,216,321 (GRCm39) splice site probably null
R0515:Mapk8ip1 UTSW 2 92,217,701 (GRCm39) missense possibly damaging 0.71
R2016:Mapk8ip1 UTSW 2 92,221,379 (GRCm39) critical splice donor site probably null
R2017:Mapk8ip1 UTSW 2 92,221,379 (GRCm39) critical splice donor site probably null
R5141:Mapk8ip1 UTSW 2 92,217,110 (GRCm39) missense probably damaging 1.00
R5858:Mapk8ip1 UTSW 2 92,215,317 (GRCm39) missense probably damaging 1.00
R6194:Mapk8ip1 UTSW 2 92,219,589 (GRCm39) missense probably damaging 0.98
R6243:Mapk8ip1 UTSW 2 92,219,589 (GRCm39) missense probably damaging 0.98
R6244:Mapk8ip1 UTSW 2 92,219,589 (GRCm39) missense probably damaging 0.98
R6984:Mapk8ip1 UTSW 2 92,217,072 (GRCm39) missense probably damaging 1.00
R7471:Mapk8ip1 UTSW 2 92,219,489 (GRCm39) missense probably benign
R7588:Mapk8ip1 UTSW 2 92,216,984 (GRCm39) missense possibly damaging 0.77
R7810:Mapk8ip1 UTSW 2 92,219,496 (GRCm39) missense probably benign 0.05
R8021:Mapk8ip1 UTSW 2 92,216,760 (GRCm39) missense possibly damaging 0.91
R8975:Mapk8ip1 UTSW 2 92,215,166 (GRCm39) missense probably damaging 1.00
R9062:Mapk8ip1 UTSW 2 92,217,527 (GRCm39) missense probably damaging 1.00
R9267:Mapk8ip1 UTSW 2 92,216,714 (GRCm39) missense possibly damaging 0.46
R9306:Mapk8ip1 UTSW 2 92,219,428 (GRCm39) missense probably benign
R9569:Mapk8ip1 UTSW 2 92,217,599 (GRCm39) missense probably benign 0.00
R9729:Mapk8ip1 UTSW 2 92,217,060 (GRCm39) missense probably damaging 1.00
X0023:Mapk8ip1 UTSW 2 92,216,946 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- TTCCCTGCAGAAAGCCTGTC -3'
(R):5'- TGATTTCACTCTGGGCTCGG -3'

Sequencing Primer
(F):5'- AGGGTTGCTCACCTGAGAC -3'
(R):5'- TTACAACCCGGGTGAGGTCAC -3'
Posted On 2018-02-28