Incidental Mutation 'IGL02185:Mapkbp1'
ID 283584
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mapkbp1
Ensembl Gene ENSMUSG00000033902
Gene Name mitogen-activated protein kinase binding protein 1
Synonyms 2810483F24Rik, Jnkbp1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02185
Quality Score
Status
Chromosome 2
Chromosomal Location 119803180-119857889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 119845144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 342 (T342S)
Ref Sequence ENSEMBL: ENSMUSP00000068516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066058] [ENSMUST00000229024]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000066058
AA Change: T342S

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: T342S

DomainStartEndE-ValueType
WD40 80 121 8.75e-5 SMART
WD40 124 165 3.64e-2 SMART
WD40 168 205 4.62e-1 SMART
low complexity region 220 234 N/A INTRINSIC
WD40 264 301 2.65e1 SMART
WD40 332 367 1.99e0 SMART
WD40 374 422 1.29e-2 SMART
WD40 463 502 3.9e-2 SMART
WD40 505 547 2.77e-1 SMART
WD40 551 592 2.67e-1 SMART
WD40 599 639 2.21e1 SMART
WD40 642 684 5.75e-1 SMART
WD40 687 726 6.04e-8 SMART
low complexity region 736 747 N/A INTRINSIC
low complexity region 779 795 N/A INTRINSIC
low complexity region 1028 1054 N/A INTRINSIC
coiled coil region 1400 1427 N/A INTRINSIC
low complexity region 1460 1477 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184907
Predicted Effect probably benign
Transcript: ENSMUST00000229024
AA Change: T348S

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh5 A G 3: 138,156,815 (GRCm39) D167G probably benign Het
C9orf72 A T 4: 35,197,046 (GRCm39) W340R probably damaging Het
Cand2 G A 6: 115,766,471 (GRCm39) A359T probably benign Het
Cnnm2 T C 19: 46,751,434 (GRCm39) V408A probably benign Het
Eloa A G 4: 135,740,290 (GRCm39) probably benign Het
Ern2 T C 7: 121,772,598 (GRCm39) probably benign Het
Hs6st3 A G 14: 120,106,296 (GRCm39) probably null Het
Hydin A T 8: 111,233,108 (GRCm39) I1736F possibly damaging Het
Ifrd2 A T 9: 107,468,290 (GRCm39) I253F probably benign Het
Kctd7 G A 5: 130,181,299 (GRCm39) V241I possibly damaging Het
Lcp1 T C 14: 75,466,740 (GRCm39) F616L possibly damaging Het
Lyst C T 13: 13,835,678 (GRCm39) Q1787* probably null Het
Mcph1 A G 8: 18,719,006 (GRCm39) probably benign Het
Mctp2 T C 7: 71,730,571 (GRCm39) H868R probably benign Het
Mefv T C 16: 3,533,714 (GRCm39) T186A probably benign Het
Nol9 T A 4: 152,142,368 (GRCm39) I666N probably damaging Het
Or51t4 T A 7: 102,597,721 (GRCm39) N16K probably damaging Het
Or6c205 G T 10: 129,086,904 (GRCm39) C167F possibly damaging Het
Or8b8 A C 9: 37,809,531 (GRCm39) Y277S probably damaging Het
Pum2 T C 12: 8,798,955 (GRCm39) probably null Het
Rpgrip1 A C 14: 52,349,685 (GRCm39) K24N possibly damaging Het
Ryr3 T A 2: 112,797,548 (GRCm39) T122S probably damaging Het
Sfn A G 4: 133,328,636 (GRCm39) S149P probably benign Het
Slc27a2 T A 2: 126,409,736 (GRCm39) V306D probably damaging Het
Slc35a1 A G 4: 34,675,584 (GRCm39) V81A probably benign Het
Trav21-dv12 A T 14: 54,113,955 (GRCm39) D25V probably benign Het
Ttn T C 2: 76,598,878 (GRCm39) H11018R possibly damaging Het
Txn1 A T 4: 57,950,883 (GRCm39) Y49N probably benign Het
Ulk2 C T 11: 61,672,886 (GRCm39) A903T probably damaging Het
Vmn2r77 G A 7: 86,444,360 (GRCm39) M4I unknown Het
Vmn2r85 G T 10: 130,254,561 (GRCm39) L708I probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Vrk2 T A 11: 26,485,638 (GRCm39) R117* probably null Het
Xpo6 A T 7: 125,712,980 (GRCm39) probably benign Het
Zdhhc14 C A 17: 5,803,157 (GRCm39) T420K probably benign Het
Zfp334 G T 2: 165,228,869 (GRCm39) probably benign Het
Zfp958 T A 8: 4,678,990 (GRCm39) C338* probably null Het
Other mutations in Mapkbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01102:Mapkbp1 APN 2 119,852,339 (GRCm39) missense possibly damaging 0.94
IGL01309:Mapkbp1 APN 2 119,849,423 (GRCm39) missense probably damaging 1.00
IGL01728:Mapkbp1 APN 2 119,854,302 (GRCm39) missense probably damaging 1.00
IGL01808:Mapkbp1 APN 2 119,853,650 (GRCm39) splice site probably null
IGL02421:Mapkbp1 APN 2 119,850,136 (GRCm39) missense possibly damaging 0.95
IGL02691:Mapkbp1 APN 2 119,803,655 (GRCm39) splice site probably benign
IGL03146:Mapkbp1 APN 2 119,828,955 (GRCm39) splice site probably benign
IGL03387:Mapkbp1 APN 2 119,828,979 (GRCm39) missense probably damaging 0.99
IGL03054:Mapkbp1 UTSW 2 119,845,881 (GRCm39) missense probably damaging 0.97
R0118:Mapkbp1 UTSW 2 119,855,696 (GRCm39) missense probably benign 0.00
R0393:Mapkbp1 UTSW 2 119,843,384 (GRCm39) splice site probably null
R0463:Mapkbp1 UTSW 2 119,853,632 (GRCm39) missense probably benign 0.01
R0788:Mapkbp1 UTSW 2 119,854,482 (GRCm39) missense probably benign 0.02
R0928:Mapkbp1 UTSW 2 119,845,849 (GRCm39) missense probably benign 0.00
R1104:Mapkbp1 UTSW 2 119,841,554 (GRCm39) splice site probably benign
R1162:Mapkbp1 UTSW 2 119,855,799 (GRCm39) missense possibly damaging 0.87
R1219:Mapkbp1 UTSW 2 119,849,831 (GRCm39) nonsense probably null
R1299:Mapkbp1 UTSW 2 119,845,885 (GRCm39) missense probably damaging 1.00
R1300:Mapkbp1 UTSW 2 119,844,136 (GRCm39) missense probably benign 0.25
R1342:Mapkbp1 UTSW 2 119,829,015 (GRCm39) missense possibly damaging 0.95
R1456:Mapkbp1 UTSW 2 119,803,626 (GRCm39) missense probably damaging 1.00
R1464:Mapkbp1 UTSW 2 119,851,742 (GRCm39) missense probably benign
R1464:Mapkbp1 UTSW 2 119,851,742 (GRCm39) missense probably benign
R1470:Mapkbp1 UTSW 2 119,848,301 (GRCm39) missense probably damaging 1.00
R1470:Mapkbp1 UTSW 2 119,848,301 (GRCm39) missense probably damaging 1.00
R1660:Mapkbp1 UTSW 2 119,849,029 (GRCm39) missense possibly damaging 0.83
R2008:Mapkbp1 UTSW 2 119,843,146 (GRCm39) missense probably damaging 1.00
R2083:Mapkbp1 UTSW 2 119,845,963 (GRCm39) missense possibly damaging 0.96
R2371:Mapkbp1 UTSW 2 119,841,261 (GRCm39) missense probably damaging 1.00
R2423:Mapkbp1 UTSW 2 119,855,071 (GRCm39) missense probably benign 0.00
R3976:Mapkbp1 UTSW 2 119,852,339 (GRCm39) missense possibly damaging 0.94
R4009:Mapkbp1 UTSW 2 119,854,086 (GRCm39) missense probably benign 0.00
R4183:Mapkbp1 UTSW 2 119,848,346 (GRCm39) missense probably damaging 1.00
R4246:Mapkbp1 UTSW 2 119,843,508 (GRCm39) missense probably damaging 1.00
R4503:Mapkbp1 UTSW 2 119,846,187 (GRCm39) missense probably damaging 1.00
R4513:Mapkbp1 UTSW 2 119,854,174 (GRCm39) missense possibly damaging 0.63
R4517:Mapkbp1 UTSW 2 119,855,545 (GRCm39) intron probably benign
R4742:Mapkbp1 UTSW 2 119,847,299 (GRCm39) missense probably damaging 1.00
R5049:Mapkbp1 UTSW 2 119,845,982 (GRCm39) splice site probably benign
R5079:Mapkbp1 UTSW 2 119,844,214 (GRCm39) missense probably damaging 0.99
R5137:Mapkbp1 UTSW 2 119,852,662 (GRCm39) missense probably damaging 1.00
R5255:Mapkbp1 UTSW 2 119,847,735 (GRCm39) missense probably damaging 1.00
R5530:Mapkbp1 UTSW 2 119,845,836 (GRCm39) missense probably benign
R5546:Mapkbp1 UTSW 2 119,849,724 (GRCm39) missense probably damaging 1.00
R5634:Mapkbp1 UTSW 2 119,803,576 (GRCm39) missense probably damaging 1.00
R5696:Mapkbp1 UTSW 2 119,852,201 (GRCm39) splice site probably null
R5891:Mapkbp1 UTSW 2 119,854,413 (GRCm39) nonsense probably null
R6263:Mapkbp1 UTSW 2 119,853,772 (GRCm39) missense probably damaging 1.00
R6807:Mapkbp1 UTSW 2 119,851,640 (GRCm39) missense probably damaging 0.99
R6890:Mapkbp1 UTSW 2 119,846,283 (GRCm39) missense probably damaging 1.00
R7159:Mapkbp1 UTSW 2 119,855,613 (GRCm39) missense possibly damaging 0.72
R7467:Mapkbp1 UTSW 2 119,852,669 (GRCm39) missense probably damaging 1.00
R7536:Mapkbp1 UTSW 2 119,849,066 (GRCm39) missense probably damaging 1.00
R7564:Mapkbp1 UTSW 2 119,844,232 (GRCm39) missense probably benign 0.09
R7801:Mapkbp1 UTSW 2 119,842,554 (GRCm39) missense probably damaging 1.00
R7886:Mapkbp1 UTSW 2 119,843,128 (GRCm39) missense possibly damaging 0.90
R8095:Mapkbp1 UTSW 2 119,848,131 (GRCm39) missense probably benign 0.11
R8421:Mapkbp1 UTSW 2 119,849,431 (GRCm39) missense probably damaging 0.99
R8548:Mapkbp1 UTSW 2 119,854,572 (GRCm39) missense probably benign 0.33
R8856:Mapkbp1 UTSW 2 119,845,109 (GRCm39) missense probably damaging 1.00
R8971:Mapkbp1 UTSW 2 119,850,050 (GRCm39) missense probably benign
R9007:Mapkbp1 UTSW 2 119,850,143 (GRCm39) missense probably damaging 0.99
R9251:Mapkbp1 UTSW 2 119,853,671 (GRCm39) missense probably benign 0.00
R9255:Mapkbp1 UTSW 2 119,843,556 (GRCm39) missense probably damaging 1.00
R9361:Mapkbp1 UTSW 2 119,845,252 (GRCm39) missense probably benign 0.02
R9587:Mapkbp1 UTSW 2 119,847,277 (GRCm39) missense possibly damaging 0.80
R9685:Mapkbp1 UTSW 2 119,851,664 (GRCm39) missense probably benign 0.35
R9803:Mapkbp1 UTSW 2 119,841,256 (GRCm39) missense probably benign 0.11
Posted On 2015-04-16