Incidental Mutation 'R2008:Mapkbp1'
ID 219159
Institutional Source Beutler Lab
Gene Symbol Mapkbp1
Ensembl Gene ENSMUSG00000033902
Gene Name mitogen-activated protein kinase binding protein 1
Synonyms 2810483F24Rik, Jnkbp1
MMRRC Submission 040017-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2008 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 119803180-119857889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 119843146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 192 (Y192H)
Ref Sequence ENSEMBL: ENSMUSP00000068516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066058] [ENSMUST00000229024]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066058
AA Change: Y192H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: Y192H

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 damaging
Transcript: ENSMUST00000229024
AA Change: Y192H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,026,034 (GRCm39) C185S probably benign Het
Acsbg3 A G 17: 57,193,478 (GRCm39) N608S probably benign Het
Actl6b T A 5: 137,567,592 (GRCm39) S409T probably damaging Het
Adam34l A T 8: 44,080,074 (GRCm39) V50D probably benign Het
Adgrf2 T C 17: 43,021,013 (GRCm39) T604A probably damaging Het
Adprs T A 4: 126,211,137 (GRCm39) D260V probably benign Het
Akap9 A G 5: 4,010,131 (GRCm39) E296G possibly damaging Het
Alg5 A G 3: 54,653,894 (GRCm39) Y210C possibly damaging Het
Aoc1 T C 6: 48,882,831 (GRCm39) W236R probably damaging Het
Atp11b A G 3: 35,909,271 (GRCm39) D1155G probably damaging Het
Atp2c1 T A 9: 105,309,925 (GRCm39) T551S probably benign Het
Atp7b A T 8: 22,517,996 (GRCm39) C281S probably damaging Het
Bmp1 C T 14: 70,729,906 (GRCm39) C466Y probably damaging Het
Cabin1 T C 10: 75,570,810 (GRCm39) probably null Het
Capn9 T G 8: 125,318,424 (GRCm39) C97G probably damaging Het
Cbfa2t3 A G 8: 123,370,032 (GRCm39) V147A probably damaging Het
Ccdc83 T A 7: 89,893,349 (GRCm39) Y136F probably damaging Het
Cdh6 C A 15: 13,051,562 (GRCm39) R357L possibly damaging Het
Celf1 A T 2: 90,840,753 (GRCm39) N367I probably damaging Het
Cep350 T C 1: 155,790,467 (GRCm39) I1363V probably benign Het
Cfap299 C T 5: 98,885,561 (GRCm39) T156I possibly damaging Het
Colec12 T A 18: 9,874,813 (GRCm39) D696E probably benign Het
Ctbp1 C T 5: 33,408,330 (GRCm39) E138K probably damaging Het
Cyp4a10 T C 4: 115,382,589 (GRCm39) I293T probably damaging Het
Dclk2 G A 3: 86,827,342 (GRCm39) P46S probably damaging Het
Dctn1 C T 6: 83,166,938 (GRCm39) T263I probably damaging Het
Ddx49 A T 8: 70,748,094 (GRCm39) V317E probably damaging Het
Edil3 G A 13: 89,093,072 (GRCm39) probably null Het
Egflam A T 15: 7,267,285 (GRCm39) V700E possibly damaging Het
Fam168b A G 1: 34,858,946 (GRCm39) probably null Het
Gigyf2 T G 1: 87,301,835 (GRCm39) probably null Het
H1f2 C G 13: 23,923,392 (GRCm39) S187R probably benign Het
Heatr4 A G 12: 84,026,514 (GRCm39) S248P probably benign Het
Hoxd1 A T 2: 74,594,524 (GRCm39) I260F possibly damaging Het
Hsd3b3 A T 3: 98,649,408 (GRCm39) L305Q probably damaging Het
Itch T A 2: 155,052,379 (GRCm39) C660S possibly damaging Het
Ivd A T 2: 118,701,981 (GRCm39) I138F probably benign Het
Katnip C G 7: 125,459,738 (GRCm39) H1189D probably damaging Het
Lcn4 G T 2: 26,561,228 (GRCm39) Q18K possibly damaging Het
Mn1 T C 5: 111,566,723 (GRCm39) L231P probably damaging Het
Morc1 A G 16: 48,386,009 (GRCm39) D544G probably benign Het
Mthfd1 C A 12: 76,344,293 (GRCm39) T331K probably damaging Het
Myo18b T A 5: 113,021,423 (GRCm39) Y546F probably benign Het
Nod1 T C 6: 54,916,310 (GRCm39) Y129C probably damaging Het
Nprl3 A G 11: 32,182,973 (GRCm39) V563A probably damaging Het
Or13a18 T C 7: 140,190,498 (GRCm39) Y140H probably damaging Het
Or4a80 A T 2: 89,582,417 (GRCm39) C252S possibly damaging Het
Or5g29 A G 2: 85,421,766 (GRCm39) N294S probably damaging Het
Or5p72 T C 7: 108,022,389 (GRCm39) F204L probably benign Het
Or8b1b T C 9: 38,375,537 (GRCm39) S67P probably damaging Het
Orc3 T A 4: 34,611,049 (GRCm39) probably null Het
Otog T C 7: 45,913,498 (GRCm39) V777A probably benign Het
Pbxip1 G T 3: 89,356,020 (GRCm39) V711L probably benign Het
Pcdhb16 A G 18: 37,611,316 (GRCm39) D92G probably damaging Het
Phkb T A 8: 86,783,096 (GRCm39) M964K probably damaging Het
Pitpnm2 T A 5: 124,290,684 (GRCm39) M1L probably damaging Het
Pkhd1 A G 1: 20,269,683 (GRCm39) V3287A probably damaging Het
Polq T A 16: 36,882,844 (GRCm39) H1669Q probably damaging Het
Ppp4r4 T C 12: 103,552,016 (GRCm39) S195P probably damaging Het
Prdm2 T C 4: 142,861,517 (GRCm39) Y591C probably damaging Het
Rgsl1 T A 1: 153,701,651 (GRCm39) T268S possibly damaging Het
Scd2 A T 19: 44,291,610 (GRCm39) T350S probably benign Het
Scn7a T A 2: 66,518,091 (GRCm39) Q1040L possibly damaging Het
Sdhb T A 4: 140,706,340 (GRCm39) L259Q probably damaging Het
Senp6 A G 9: 80,033,680 (GRCm39) H701R probably damaging Het
Slc41a2 C T 10: 83,140,167 (GRCm39) probably null Het
Slx4 T C 16: 3,797,785 (GRCm39) D1533G probably damaging Het
Spef2 T C 15: 9,713,271 (GRCm39) K367R possibly damaging Het
Sstr3 G A 15: 78,424,711 (GRCm39) T12M probably benign Het
Synj2 G T 17: 6,047,221 (GRCm39) E20D probably damaging Het
Tchh G T 3: 93,353,281 (GRCm39) R907L unknown Het
Thsd1 A G 8: 22,749,247 (GRCm39) E645G probably benign Het
Tmem176b A T 6: 48,812,383 (GRCm39) M194K probably damaging Het
Tmprss11f T C 5: 86,739,265 (GRCm39) probably null Het
Trim44 G A 2: 102,230,722 (GRCm39) probably benign Het
Triml1 T A 8: 43,583,642 (GRCm39) R320W probably damaging Het
Trmt6 A T 2: 132,648,829 (GRCm39) C401* probably null Het
Trpv5 T C 6: 41,636,662 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,726 (GRCm39) L64* probably null Het
Vmn1r216 A T 13: 23,283,661 (GRCm39) R115W probably damaging Het
Vmn2r58 T C 7: 41,509,924 (GRCm39) N551S probably damaging Het
Vmn2r77 T C 7: 86,450,921 (GRCm39) V269A probably benign Het
Vps13d A T 4: 144,881,813 (GRCm39) V1254D probably benign Het
Xpr1 T C 1: 155,156,775 (GRCm39) probably null Het
Zan T A 5: 137,450,712 (GRCm39) T1622S unknown Het
Zfp112 T C 7: 23,826,176 (GRCm39) Y715H probably damaging Het
Zfp750 G A 11: 121,403,951 (GRCm39) P308L possibly damaging 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
IGL02185:Mapkbp1 APN 2 119,845,144 (GRCm39) missense possibly damaging 0.58
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
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
Predicted Primers PCR Primer
(F):5'- AGATACCTTCTTACCCCAGTAGG -3'
(R):5'- CAGCCATCTAGCCTTGGAAATG -3'

Sequencing Primer
(F):5'- TCTTACCCCAGTAGGAAGAGCTTG -3'
(R):5'- TCTAGCCTTGGAAATGAGGGCC -3'
Posted On 2014-08-25