Incidental Mutation 'R1456:Mapkbp1'
ID 161762
Institutional Source Beutler Lab
Gene Symbol Mapkbp1
Ensembl Gene ENSMUSG00000033902
Gene Name mitogen-activated protein kinase binding protein 1
Synonyms 2810483F24Rik, Jnkbp1
MMRRC Submission 039511-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1456 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119803180-119857889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 119803626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 32 (R32W)
Ref Sequence ENSEMBL: ENSMUSP00000155163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066058] [ENSMUST00000079934] [ENSMUST00000110773] [ENSMUST00000110774] [ENSMUST00000229024]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066058
AA Change: R32W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: R32W

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 probably benign
Transcript: ENSMUST00000079934
SMART Domains Protein: ENSMUSP00000078853
Gene: ENSMUSG00000033943

DomainStartEndE-ValueType
Blast:TBOX 6 73 5e-27 BLAST
TBOX 74 265 2.34e-100 SMART
low complexity region 969 978 N/A INTRINSIC
low complexity region 1017 1031 N/A INTRINSIC
low complexity region 1112 1138 N/A INTRINSIC
low complexity region 1247 1268 N/A INTRINSIC
low complexity region 1300 1314 N/A INTRINSIC
low complexity region 1626 1648 N/A INTRINSIC
low complexity region 1663 1680 N/A INTRINSIC
low complexity region 1807 1822 N/A INTRINSIC
low complexity region 2013 2027 N/A INTRINSIC
low complexity region 2071 2089 N/A INTRINSIC
HLH 2198 2249 8.27e-7 SMART
low complexity region 2578 2599 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110773
SMART Domains Protein: ENSMUSP00000106400
Gene: ENSMUSG00000033943

DomainStartEndE-ValueType
Blast:TBOX 6 73 5e-27 BLAST
TBOX 74 265 2.34e-100 SMART
low complexity region 890 899 N/A INTRINSIC
low complexity region 938 952 N/A INTRINSIC
low complexity region 1033 1059 N/A INTRINSIC
low complexity region 1169 1190 N/A INTRINSIC
low complexity region 1222 1236 N/A INTRINSIC
low complexity region 1485 1502 N/A INTRINSIC
low complexity region 1555 1570 N/A INTRINSIC
low complexity region 1602 1637 N/A INTRINSIC
low complexity region 1717 1739 N/A INTRINSIC
low complexity region 1754 1771 N/A INTRINSIC
low complexity region 1898 1913 N/A INTRINSIC
low complexity region 2104 2118 N/A INTRINSIC
low complexity region 2162 2180 N/A INTRINSIC
HLH 2289 2340 8.27e-7 SMART
low complexity region 2669 2690 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110774
SMART Domains Protein: ENSMUSP00000106401
Gene: ENSMUSG00000033943

DomainStartEndE-ValueType
Blast:TBOX 6 73 7e-27 BLAST
TBOX 74 265 2.34e-100 SMART
low complexity region 969 978 N/A INTRINSIC
low complexity region 1017 1031 N/A INTRINSIC
Pfam:DUF4801 1037 1085 1e-19 PFAM
low complexity region 1112 1138 N/A INTRINSIC
low complexity region 1248 1269 N/A INTRINSIC
low complexity region 1301 1315 N/A INTRINSIC
low complexity region 1564 1581 N/A INTRINSIC
low complexity region 1634 1649 N/A INTRINSIC
low complexity region 1681 1716 N/A INTRINSIC
low complexity region 1835 1857 N/A INTRINSIC
low complexity region 1872 1889 N/A INTRINSIC
low complexity region 2016 2031 N/A INTRINSIC
low complexity region 2222 2236 N/A INTRINSIC
low complexity region 2280 2298 N/A INTRINSIC
HLH 2407 2458 8.27e-7 SMART
low complexity region 2787 2808 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000229024
AA Change: R32W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 98% (90/92)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik C T 2: 19,485,731 (GRCm39) probably null Het
4932414N04Rik A T 2: 68,546,558 (GRCm39) E80V possibly damaging Het
Alkbh3 A G 2: 93,831,764 (GRCm39) probably null Het
Ankar A T 1: 72,704,277 (GRCm39) Y664N probably benign Het
Arhgap18 T C 10: 26,792,436 (GRCm39) I629T probably benign Het
Arhgef28 C T 13: 98,211,510 (GRCm39) E158K probably benign Het
Asxl2 C T 12: 3,551,872 (GRCm39) H1205Y possibly damaging Het
Birc6 A G 17: 74,916,285 (GRCm39) I427V probably benign Het
Camk4 A G 18: 33,262,896 (GRCm39) probably benign Het
Ccdc178 A T 18: 22,283,481 (GRCm39) D16E possibly damaging Het
Cct6b G T 11: 82,644,446 (GRCm39) probably benign Het
Ccz1 A G 5: 143,947,836 (GRCm39) probably benign Het
Cdh23 T C 10: 60,322,899 (GRCm39) N335S possibly damaging Het
Cemip T A 7: 83,647,718 (GRCm39) S121C possibly damaging Het
Cers1 A G 8: 70,783,838 (GRCm39) E262G probably damaging Het
Clec11a G T 7: 43,955,874 (GRCm39) P58T possibly damaging Het
Clec16a T C 16: 10,509,419 (GRCm39) I797T probably damaging Het
Col4a1 A C 8: 11,292,829 (GRCm39) probably benign Het
Colgalt2 G A 1: 152,360,655 (GRCm39) V231I probably damaging Het
D430041D05Rik G T 2: 104,038,428 (GRCm39) N1580K probably damaging Het
Dcdc5 A G 2: 106,181,910 (GRCm39) noncoding transcript Het
Ddx17 T C 15: 79,414,577 (GRCm39) D530G probably benign Het
Dhx9 A T 1: 153,341,441 (GRCm39) D601E probably benign Het
Dnah3 A G 7: 119,646,853 (GRCm39) Y1059H probably damaging Het
Dtx1 C A 5: 120,848,569 (GRCm39) probably benign Het
Egfr A G 11: 16,813,065 (GRCm39) S182G probably benign Het
Fads1 A G 19: 10,163,116 (GRCm39) N131S probably benign Het
Fam243 T A 16: 92,117,553 (GRCm39) Y245F probably damaging Het
Fancm C T 12: 65,165,125 (GRCm39) A1490V possibly damaging Het
Fsd2 C A 7: 81,209,339 (GRCm39) E168* probably null Het
Galnt2l T C 8: 123,568,687 (GRCm39) probably benign Het
Gm9772 A T 17: 22,226,099 (GRCm39) C62S probably damaging Het
H60c C T 10: 3,210,307 (GRCm39) A81T possibly damaging Het
Hira T G 16: 18,744,413 (GRCm39) S377A probably benign Het
Iffo1 T C 6: 125,122,877 (GRCm39) S220P possibly damaging Het
Itih4 A G 14: 30,614,610 (GRCm39) M491V probably benign Het
Khdrbs2 T C 1: 32,559,777 (GRCm39) R102G possibly damaging Het
Klhdc7a T G 4: 139,692,835 (GRCm39) Y704S possibly damaging Het
Klk1b21 G A 7: 43,754,923 (GRCm39) V73I probably benign Het
Krt42 G A 11: 100,160,435 (GRCm39) A88V probably benign Het
Krt42 C T 11: 100,160,436 (GRCm39) A88T probably benign Het
Limk1 G T 5: 134,686,364 (GRCm39) D580E probably benign Het
Lipk C T 19: 34,024,185 (GRCm39) P323S probably damaging Het
Lipo5 T A 19: 33,443,273 (GRCm39) probably benign Het
Llgl2 A G 11: 115,736,325 (GRCm39) D166G probably benign Het
Mapk8ip3 A T 17: 25,125,923 (GRCm39) N439K probably damaging Het
Med23 T A 10: 24,779,550 (GRCm39) probably benign Het
Mrgprb1 A T 7: 48,097,777 (GRCm39) M45K probably damaging Het
Mroh7 G A 4: 106,552,338 (GRCm39) probably benign Het
Mrpl27 G A 11: 94,544,659 (GRCm39) probably benign Het
Ms4a10 T A 19: 10,942,097 (GRCm39) T175S possibly damaging Het
Muc17 T C 5: 137,166,799 (GRCm39) H330R probably benign Het
Myo15a A T 11: 60,399,028 (GRCm39) I2787F probably damaging Het
Ndst1 A G 18: 60,846,277 (GRCm39) C11R possibly damaging Het
Obsl1 C A 1: 75,464,300 (GRCm39) G1669* probably null Het
Or5p56 A G 7: 107,589,605 (GRCm39) E11G probably benign Het
Or6c208 A T 10: 129,223,652 (GRCm39) D50V probably damaging Het
Or7e177 T C 9: 20,212,134 (GRCm39) Y214H probably benign Het
Pafah2 T A 4: 134,131,468 (GRCm39) I52N probably damaging Het
Pcsk6 A T 7: 65,693,283 (GRCm39) I693F possibly damaging Het
Pde4c G T 8: 71,199,262 (GRCm39) R228L probably benign Het
Pdzd8 T C 19: 59,288,904 (GRCm39) N832S probably benign Het
Plbd1 T A 6: 136,590,814 (GRCm39) M451L probably benign Het
Pramel14 G T 4: 143,719,851 (GRCm39) D171E probably benign Het
Prom1 T C 5: 44,194,965 (GRCm39) D260G probably damaging Het
Ranbp17 A G 11: 33,216,310 (GRCm39) S813P probably damaging Het
Scn10a T C 9: 119,520,544 (GRCm39) I119V probably benign Het
Sh3pxd2b A G 11: 32,365,967 (GRCm39) T353A probably damaging Het
Shq1 A T 6: 100,646,659 (GRCm39) probably null Het
Slc22a28 T A 19: 8,049,223 (GRCm39) H342L possibly damaging Het
Slco2b1 C T 7: 99,314,114 (GRCm39) E9K probably null Het
Specc1l T C 10: 75,082,118 (GRCm39) F505L probably damaging Het
Sptan1 G T 2: 29,870,215 (GRCm39) probably null Het
St6gal2 A G 17: 55,797,932 (GRCm39) probably benign Het
Taok2 T C 7: 126,479,313 (GRCm39) I73V probably benign Het
Tax1bp1 C T 6: 52,721,229 (GRCm39) T478I probably benign Het
Tbc1d4 A T 14: 101,744,542 (GRCm39) N361K probably damaging Het
Tph1 A T 7: 46,296,907 (GRCm39) Y429* probably null Het
Tprkb A T 6: 85,901,403 (GRCm39) R14W probably damaging Het
Trio A T 15: 27,753,890 (GRCm39) probably benign Het
Ttc23 T C 7: 67,316,902 (GRCm39) probably benign Het
Vmn1r211 T C 13: 23,036,415 (GRCm39) Y84C probably damaging Het
Vmn2r22 C G 6: 123,614,624 (GRCm39) G322A possibly damaging Het
Wdr74 A G 19: 8,717,776 (GRCm39) Q330R probably benign Het
Wdtc1 C A 4: 133,024,739 (GRCm39) S486I possibly damaging Het
Zbtb24 T C 10: 41,340,989 (GRCm39) V673A possibly damaging Het
Zfpm2 A T 15: 40,965,877 (GRCm39) R655S probably damaging Het
Zkscan5 A G 5: 145,157,798 (GRCm39) N694D probably benign 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
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
Predicted Primers PCR Primer
(F):5'- CAGTACCGCTGTTGAGACAAGTCC -3'
(R):5'- AGGCCCTGTTAAACCCAGTTTGC -3'

Sequencing Primer
(F):5'- CTGTTGAGACAAGTCCAAAGGC -3'
(R):5'- TCCAACTTCAAATCAGGTCGTC -3'
Posted On 2014-03-14