Incidental Mutation 'R7471:Mapk8ip1'
ID 579171
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 045545-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.296) question?
Stock # R7471 (G1)
Quality Score 212.009
Status Validated
Chromosome 2
Chromosomal Location 92214021-92231608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92219489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 114 (D114G)
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 benign
Transcript: ENSMUST00000050312
AA Change: D114G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000050773
Gene: ENSMUSG00000027223
AA Change: D114G

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 probably benign
Transcript: ENSMUST00000111279
AA Change: D105G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106910
Gene: ENSMUSG00000027223
AA Change: D105G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (73/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T A 11: 84,168,608 (GRCm39) probably null Het
Ace T C 11: 105,864,308 (GRCm39) V483A probably damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Angptl2 A T 2: 33,133,751 (GRCm39) T358S possibly damaging Het
Apoh C T 11: 108,298,131 (GRCm39) P144S probably damaging Het
Arid1a A G 4: 133,408,355 (GRCm39) W1666R unknown Het
Asap3 A G 4: 135,960,957 (GRCm39) H223R possibly damaging Het
Bcl2l12 A G 7: 44,645,977 (GRCm39) S81P possibly damaging Het
Brd10 A C 19: 29,707,139 (GRCm39) probably null Het
C8a A G 4: 104,674,822 (GRCm39) S550P probably benign Het
Cacna2d1 C G 5: 16,139,973 (GRCm39) probably benign Het
Ccdc170 A G 10: 4,470,803 (GRCm39) T216A probably benign Het
Chd7 A T 4: 8,859,197 (GRCm39) K2429I probably damaging Het
Chd8 T C 14: 52,441,569 (GRCm39) N2181S probably benign Het
Cimap1c C T 9: 56,759,783 (GRCm39) probably null Het
Clip3 T C 7: 30,001,377 (GRCm39) V342A possibly damaging Het
Cst5 C T 2: 149,247,496 (GRCm39) L71F probably benign Het
Cyp20a1 T C 1: 60,393,799 (GRCm39) F139S probably damaging Het
Dclre1b T A 3: 103,710,430 (GRCm39) R494W probably benign Het
Dicer1 A G 12: 104,660,969 (GRCm39) I1695T probably damaging Het
Dnah7a A G 1: 53,458,858 (GRCm39) L3760P probably damaging Het
Dock1 A G 7: 134,765,072 (GRCm39) D1688G possibly damaging Het
Drosha G A 15: 12,889,742 (GRCm39) R870Q probably damaging Het
Dsg2 G T 18: 20,713,675 (GRCm39) M215I probably benign Het
Dst A T 1: 34,233,651 (GRCm39) D3453V possibly damaging Het
Epha10 A T 4: 124,796,365 (GRCm39) Y358F Het
Ermp1 A T 19: 29,590,054 (GRCm39) M853K probably benign Het
Hace1 T G 10: 45,577,075 (GRCm39) I823S probably benign Het
Hectd3 A T 4: 116,853,785 (GRCm39) Y227F probably benign Het
Hells A G 19: 38,945,501 (GRCm39) N580S probably benign Het
Igkv12-44 A G 6: 69,791,718 (GRCm39) F82L probably damaging Het
Inpp5d A G 1: 87,623,122 (GRCm39) D405G probably damaging Het
Itsn2 G A 12: 4,758,198 (GRCm39) R1508H probably benign Het
Limk1 A T 5: 134,686,825 (GRCm39) probably null Het
Lingo1 T A 9: 56,528,167 (GRCm39) K147* probably null Het
Ltn1 T C 16: 87,194,787 (GRCm39) S1371G probably benign Het
Mab21l1 A G 3: 55,691,307 (GRCm39) D298G possibly damaging Het
Macf1 A T 4: 123,366,082 (GRCm39) V2893E probably benign Het
Med15 A T 16: 17,540,729 (GRCm39) W6R probably benign Het
Mrps34 T C 17: 25,114,431 (GRCm39) L97P probably damaging Het
Myrfl A T 10: 116,697,417 (GRCm39) F36I possibly damaging Het
Nifk G A 1: 118,260,204 (GRCm39) S253N probably damaging Het
Nmnat1 T A 4: 149,557,758 (GRCm39) T95S probably damaging Het
Oasl1 T A 5: 115,073,985 (GRCm39) I298N probably damaging Het
Or51a8 A G 7: 102,549,760 (GRCm39) Y62C probably benign Het
Or56b35 T G 7: 104,963,712 (GRCm39) L167R probably damaging Het
Or8g37 A T 9: 39,731,423 (GRCm39) M163L probably benign Het
Polr2b C T 5: 77,468,913 (GRCm39) R230* probably null Het
Prkra T A 2: 76,477,545 (GRCm39) E53D probably benign Het
Rasgrp4 T A 7: 28,845,405 (GRCm39) L376Q probably damaging Het
Rwdd3 A G 3: 120,964,961 (GRCm39) S65P probably benign Het
Satb1 G A 17: 52,090,029 (GRCm39) P273S probably damaging Het
Scg3 T C 9: 75,589,374 (GRCm39) E93G probably damaging Het
Sf3a1 T C 11: 4,117,724 (GRCm39) F162S possibly damaging Het
Sorcs1 A G 19: 50,250,701 (GRCm39) Y377H probably damaging Het
Sptbn4 G A 7: 27,108,439 (GRCm39) A661V possibly damaging Het
Stk36 A G 1: 74,673,479 (GRCm39) N996S unknown Het
Tbca A T 13: 94,968,923 (GRCm39) I37F probably damaging Het
Tc2n A T 12: 101,672,716 (GRCm39) V75E probably damaging Het
Tdrkh A T 3: 94,333,263 (GRCm39) S243C probably damaging Het
Tjp1 T C 7: 64,964,438 (GRCm39) D911G probably damaging Het
Tmbim6 A G 15: 99,299,324 (GRCm39) probably benign Het
Tob1 T A 11: 94,104,708 (GRCm39) D81E probably benign Het
Ttpal T A 2: 163,448,945 (GRCm39) probably null Het
Usp37 A T 1: 74,534,787 (GRCm39) probably null Het
Vmn1r235 A G 17: 21,482,658 (GRCm39) I328V probably benign Het
Vmn1r28 T A 6: 58,242,850 (GRCm39) L231* probably null Het
Xirp1 G A 9: 119,848,176 (GRCm39) Q236* probably null Het
Zc3h7b A G 15: 81,664,682 (GRCm39) T514A probably damaging Het
Zfp524 A G 7: 5,021,200 (GRCm39) I243V probably benign Het
Zfp655 T A 5: 145,181,542 (GRCm39) Y467N possibly damaging Het
Zfp985 A T 4: 147,667,388 (GRCm39) K85N possibly damaging 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
R6245: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
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 2019-10-07