Incidental Mutation 'R4513:Mapkbp1'
ID 334500
Institutional Source Beutler Lab
Gene Symbol Mapkbp1
Ensembl Gene ENSMUSG00000033902
Gene Name mitogen-activated protein kinase binding protein 1
Synonyms 2810483F24Rik, Jnkbp1
MMRRC Submission 041759-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4513 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119803180-119857889 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119854174 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 1257 (I1257N)
Ref Sequence ENSEMBL: ENSMUSP00000155163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044675] [ENSMUST00000066058] [ENSMUST00000129679] [ENSMUST00000129685] [ENSMUST00000135365] [ENSMUST00000229024] [ENSMUST00000156805] [ENSMUST00000162393]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044675
SMART Domains Protein: ENSMUSP00000041220
Gene: ENSMUSG00000098789

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 307 4.31e-39 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066058
AA Change: I1251N

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902
AA Change: I1251N

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: ENSMUST00000129679
Predicted Effect probably benign
Transcript: ENSMUST00000129685
SMART Domains Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 308 1.65e-4 SMART
C2 242 342 1.79e-17 SMART
PLAc 456 1012 1.99e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130176
Predicted Effect probably benign
Transcript: ENSMUST00000135365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141511
Predicted Effect possibly damaging
Transcript: ENSMUST00000229024
AA Change: I1257N

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000156805
SMART Domains Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 308 1.65e-4 SMART
C2 242 342 1.79e-17 SMART
PLAc 456 892 8.56e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000162393
SMART Domains Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
JmjC 128 242 4.42e-3 SMART
Meta Mutation Damage Score 0.2223 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 A G 17: 57,717,947 (GRCm39) I320V probably benign Het
Akap6 T C 12: 52,842,787 (GRCm39) V45A probably benign Het
Ankrd28 A T 14: 31,465,242 (GRCm39) S312T probably damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Cfap96 G T 8: 46,421,175 (GRCm39) T116K probably damaging Het
Cntn3 A T 6: 102,145,943 (GRCm39) I966N probably benign Het
D630003M21Rik T C 2: 158,046,722 (GRCm39) T752A probably benign Het
Dmxl2 A C 9: 54,327,168 (GRCm39) S952R probably null Het
Dop1a G A 9: 86,402,612 (GRCm39) E1271K probably benign Het
Fgfr3 A G 5: 33,880,460 (GRCm39) probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Got1l1 C T 8: 27,688,513 (GRCm39) M279I probably benign Het
Guf1 T C 5: 69,719,005 (GRCm39) V230A probably benign Het
Hsd17b14 C T 7: 45,212,339 (GRCm39) L124F probably benign Het
Id3 G T 4: 135,871,669 (GRCm39) probably benign Het
Itga8 T C 2: 12,187,547 (GRCm39) S711G probably benign Het
Lgr4 T C 2: 109,842,361 (GRCm39) M782T possibly damaging Het
Lsm12 T C 11: 102,057,909 (GRCm39) probably null Het
Map1b T A 13: 99,580,741 (GRCm39) D117V probably damaging Het
Map3k11 A G 19: 5,752,238 (GRCm39) T807A probably damaging Het
Mapk14 T C 17: 28,943,798 (GRCm39) F129S probably damaging Het
Mcm3 A G 1: 20,880,456 (GRCm39) Y459H probably damaging Het
Mkln1 T C 6: 31,410,093 (GRCm39) probably benign Het
Msh5 A T 17: 35,249,664 (GRCm39) I627N possibly damaging Het
Nfkbiz T C 16: 55,637,204 (GRCm39) H488R probably benign Het
Nrg1 G T 8: 32,967,105 (GRCm39) probably benign Het
Or1j19 A G 2: 36,676,782 (GRCm39) M82V probably benign Het
Or51q1 T C 7: 103,628,648 (GRCm39) V89A probably benign Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5b120 A T 19: 13,479,986 (GRCm39) Y93F probably benign Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Plekhg4 T A 8: 106,107,034 (GRCm39) C910S probably damaging Het
Ppp1r18 A G 17: 36,179,196 (GRCm39) E357G probably damaging Het
Pramel23 T C 4: 143,424,718 (GRCm39) M242V probably benign Het
Rbm11 T C 16: 75,393,475 (GRCm39) F57S probably damaging Het
Sbp G A 17: 24,164,286 (GRCm39) G183D probably benign Het
Skint5 A G 4: 113,599,382 (GRCm39) V719A unknown Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Slc29a1 A C 17: 45,899,992 (GRCm39) Y232* probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Spanxn4 A T 12: 62,734,886 (GRCm39) noncoding transcript Het
Spata31d1d T C 13: 59,876,368 (GRCm39) Q389R probably benign Het
Srgap1 A G 10: 121,706,231 (GRCm39) probably null Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Tle2 A G 10: 81,423,394 (GRCm39) D491G probably damaging Het
Tmem33 T C 5: 67,443,468 (GRCm39) V215A probably benign Het
Trav6-3 A G 14: 53,667,548 (GRCm39) T7A probably benign Het
Ube2q2 C A 9: 55,057,084 (GRCm39) P56T probably benign Het
Unc79 T C 12: 102,988,019 (GRCm39) V208A probably damaging Het
Xkr7 T C 2: 152,896,553 (GRCm39) I469T 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
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
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'- ACTGAGCCCTAGCATTTGCAC -3'
(R):5'- CCTTTCCTAGGCTCACCAAG -3'

Sequencing Primer
(F):5'- ACGCGACCTGCATCTGTC -3'
(R):5'- CAAGGGGCCCGATTGTTCTG -3'
Posted On 2015-08-18