Incidental Mutation 'R4728:Map3k9'
ID 358626
Institutional Source Beutler Lab
Gene Symbol Map3k9
Ensembl Gene ENSMUSG00000042724
Gene Name mitogen-activated protein kinase kinase kinase 9
Synonyms Mlk1
MMRRC Submission 042020-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4728 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 81767784-81827949 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81769147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 967 (R967Q)
Ref Sequence ENSEMBL: ENSMUSP00000041819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035987] [ENSMUST00000222322]
AlphaFold Q3U1V8
Predicted Effect probably damaging
Transcript: ENSMUST00000035987
AA Change: R967Q

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: R967Q

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
SH3 48 108 1.61e-20 SMART
TyrKc 137 396 6.72e-89 SMART
low complexity region 449 469 N/A INTRINSIC
low complexity region 573 590 N/A INTRINSIC
low complexity region 644 657 N/A INTRINSIC
low complexity region 722 736 N/A INTRINSIC
low complexity region 749 765 N/A INTRINSIC
low complexity region 772 783 N/A INTRINSIC
low complexity region 799 811 N/A INTRINSIC
low complexity region 901 915 N/A INTRINSIC
low complexity region 1020 1036 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221438
Predicted Effect possibly damaging
Transcript: ENSMUST00000222322
AA Change: R990Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
Meta Mutation Damage Score 0.0838 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 94% (73/78)
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter/null allele exhibit normal development, reproduction and lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicc1 C T 10: 70,771,661 (GRCm39) probably null Het
Bpifc T A 10: 85,827,063 (GRCm39) H162L possibly damaging Het
Ccdc163 C T 4: 116,566,209 (GRCm39) probably benign Het
Cldn12 A G 5: 5,558,385 (GRCm39) F14S probably damaging Het
Cyth4 G A 15: 78,486,913 (GRCm39) G14R probably benign Het
Ddhd2 C T 8: 26,242,294 (GRCm39) V194I probably damaging Het
Ddx23 A T 15: 98,548,106 (GRCm39) V433E probably damaging Het
Defb34 A G 8: 19,176,434 (GRCm39) N42D possibly damaging Het
Dennd6a A G 14: 26,348,575 (GRCm39) E313G probably null Het
Dhx30 A G 9: 109,916,718 (GRCm39) F570S probably damaging Het
Dnah3 T C 7: 119,658,589 (GRCm39) E864G probably damaging Het
Eps8 G A 6: 137,486,160 (GRCm39) Q451* probably null Het
Fmo9 A T 1: 166,490,880 (GRCm39) Y533N possibly damaging Het
Fut8 T A 12: 77,521,973 (GRCm39) D537E probably damaging Het
Gm5407 T C 16: 49,117,283 (GRCm39) noncoding transcript Het
Gm9916 A G 3: 118,228,690 (GRCm39) noncoding transcript Het
Grm5 T A 7: 87,624,496 (GRCm39) F354L probably damaging Het
Hira C T 16: 18,741,654 (GRCm39) A353V probably damaging Het
Ifna4 C A 4: 88,760,519 (GRCm39) T141K probably benign Het
Igf1r T C 7: 67,839,372 (GRCm39) L628P probably damaging Het
Kcnh5 A T 12: 75,054,555 (GRCm39) I463N probably damaging Het
Kcnh8 C A 17: 53,032,898 (GRCm39) Q62K probably damaging Het
Kif3c A T 12: 3,415,873 (GRCm39) probably benign Het
Kmo A G 1: 175,484,329 (GRCm39) D353G possibly damaging Het
Lrp1 T C 10: 127,399,606 (GRCm39) T2301A probably damaging Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Mcm8 A G 2: 132,674,774 (GRCm39) H414R probably damaging Het
Mier1 A G 4: 102,997,402 (GRCm39) E145G probably damaging Het
Mlc1 A T 15: 88,862,234 (GRCm39) probably null Het
Napb T C 2: 148,551,245 (GRCm39) D96G probably damaging Het
Nbas T A 12: 13,338,740 (GRCm39) S193R probably damaging Het
Nlrp4a T C 7: 26,174,515 (GRCm39) V967A probably benign Het
Nlrp4e T A 7: 23,020,989 (GRCm39) I492K probably benign Het
Notch4 A G 17: 34,789,179 (GRCm39) T497A probably benign Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Ogdh T A 11: 6,292,549 (GRCm39) Y417N probably damaging Het
Or5w19 T C 2: 87,698,779 (GRCm39) V148A probably benign Het
Ovol1 A T 19: 5,603,690 (GRCm39) Y70* probably null Het
P2ry1 A G 3: 60,911,641 (GRCm39) Y260C probably damaging Het
Pcx G T 19: 4,653,124 (GRCm39) R263L probably damaging Het
Pla2g4f T A 2: 120,131,402 (GRCm39) T774S probably benign Het
Prdm15 T G 16: 97,622,986 (GRCm39) K289Q probably benign Het
Prl7c1 A T 13: 27,960,268 (GRCm39) H91Q probably benign Het
Prmt5 C T 14: 54,745,364 (GRCm39) R601H probably benign Het
Prrc2b T A 2: 32,120,637 (GRCm39) D2192E probably damaging Het
Ptdss2 A G 7: 140,734,372 (GRCm39) I299V probably benign Het
Rbm28 A G 6: 29,143,591 (GRCm39) V354A probably damaging Het
Rps6kb1 G C 11: 86,435,484 (GRCm39) probably null Het
Sema3f A G 9: 107,582,639 (GRCm39) S35P probably benign Het
Serpina3n A T 12: 104,375,422 (GRCm39) T165S probably benign Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Sh2d4b T A 14: 40,564,389 (GRCm39) R267* probably null Het
Slc5a12 A T 2: 110,474,769 (GRCm39) K554* probably null Het
Snrnp200 T C 2: 127,059,334 (GRCm39) L409P probably damaging Het
Snrnp200 T A 2: 127,069,798 (GRCm39) V981E possibly damaging Het
Spon2 T A 5: 33,374,682 (GRCm39) R41S probably benign Het
Sptb A T 12: 76,630,153 (GRCm39) M2279K probably benign Het
Srcap T G 7: 127,140,096 (GRCm39) probably null Het
Tctn3 A G 19: 40,594,186 (GRCm39) V409A probably damaging Het
Tg A C 15: 66,554,676 (GRCm39) Q697P probably damaging Het
Tmem181a A G 17: 6,340,874 (GRCm39) D141G probably benign Het
Tmem82 A G 4: 141,341,963 (GRCm39) S334P probably benign Het
Ubr4 A G 4: 139,151,190 (GRCm39) Y1875C probably damaging Het
Vmn1r63 C A 7: 5,806,362 (GRCm39) R90L probably damaging Het
Zfp330 A C 8: 83,497,475 (GRCm39) Y56D probably damaging Het
Other mutations in Map3k9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00640:Map3k9 APN 12 81,776,472 (GRCm39) missense probably benign 0.00
IGL01098:Map3k9 APN 12 81,770,928 (GRCm39) missense probably damaging 1.00
IGL01122:Map3k9 APN 12 81,778,900 (GRCm39) missense possibly damaging 0.94
IGL01680:Map3k9 APN 12 81,771,513 (GRCm39) missense probably benign 0.10
IGL01997:Map3k9 APN 12 81,819,471 (GRCm39) missense probably damaging 1.00
IGL02178:Map3k9 APN 12 81,790,611 (GRCm39) missense probably damaging 1.00
IGL02724:Map3k9 APN 12 81,771,516 (GRCm39) missense probably benign
PIT4366001:Map3k9 UTSW 12 81,819,535 (GRCm39) missense possibly damaging 0.95
R0530:Map3k9 UTSW 12 81,769,256 (GRCm39) missense probably benign 0.00
R0541:Map3k9 UTSW 12 81,780,997 (GRCm39) missense possibly damaging 0.79
R0550:Map3k9 UTSW 12 81,772,555 (GRCm39) missense probably damaging 1.00
R0799:Map3k9 UTSW 12 81,769,043 (GRCm39) missense probably benign 0.27
R1730:Map3k9 UTSW 12 81,769,000 (GRCm39) missense probably damaging 0.99
R1783:Map3k9 UTSW 12 81,769,000 (GRCm39) missense probably damaging 0.99
R1859:Map3k9 UTSW 12 81,771,256 (GRCm39) missense possibly damaging 0.82
R1917:Map3k9 UTSW 12 81,827,564 (GRCm39) nonsense probably null
R3121:Map3k9 UTSW 12 81,790,698 (GRCm39) missense probably damaging 1.00
R3779:Map3k9 UTSW 12 81,790,565 (GRCm39) splice site probably benign
R3931:Map3k9 UTSW 12 81,819,691 (GRCm39) missense probably damaging 0.99
R3951:Map3k9 UTSW 12 81,769,295 (GRCm39) missense probably benign
R4571:Map3k9 UTSW 12 81,780,865 (GRCm39) missense probably benign 0.25
R4857:Map3k9 UTSW 12 81,771,401 (GRCm39) missense probably benign 0.42
R4882:Map3k9 UTSW 12 81,770,936 (GRCm39) missense probably damaging 1.00
R5077:Map3k9 UTSW 12 81,780,851 (GRCm39) splice site probably null
R5369:Map3k9 UTSW 12 81,768,826 (GRCm39) missense probably damaging 0.98
R5418:Map3k9 UTSW 12 81,790,591 (GRCm39) nonsense probably null
R5540:Map3k9 UTSW 12 81,819,587 (GRCm39) missense probably damaging 1.00
R5567:Map3k9 UTSW 12 81,778,798 (GRCm39) missense possibly damaging 0.67
R5570:Map3k9 UTSW 12 81,778,798 (GRCm39) missense possibly damaging 0.67
R5696:Map3k9 UTSW 12 81,780,896 (GRCm39) missense probably benign 0.00
R6539:Map3k9 UTSW 12 81,778,966 (GRCm39) missense probably damaging 0.98
R6542:Map3k9 UTSW 12 81,769,028 (GRCm39) missense possibly damaging 0.91
R6816:Map3k9 UTSW 12 81,769,028 (GRCm39) missense possibly damaging 0.91
R6964:Map3k9 UTSW 12 81,819,777 (GRCm39) missense probably benign 0.00
R7027:Map3k9 UTSW 12 81,777,398 (GRCm39) missense probably benign 0.06
R7055:Map3k9 UTSW 12 81,770,982 (GRCm39) missense probably damaging 0.99
R7082:Map3k9 UTSW 12 81,771,476 (GRCm39) missense probably damaging 1.00
R7247:Map3k9 UTSW 12 81,772,604 (GRCm39) missense possibly damaging 0.65
R7424:Map3k9 UTSW 12 81,770,871 (GRCm39) missense probably benign 0.00
R7476:Map3k9 UTSW 12 81,790,582 (GRCm39) missense probably damaging 1.00
R7638:Map3k9 UTSW 12 81,771,506 (GRCm39) missense probably benign 0.00
R8098:Map3k9 UTSW 12 81,780,888 (GRCm39) missense probably damaging 0.99
R8249:Map3k9 UTSW 12 81,827,551 (GRCm39) missense unknown
R8356:Map3k9 UTSW 12 81,780,892 (GRCm39) missense probably damaging 0.98
R8397:Map3k9 UTSW 12 81,769,136 (GRCm39) missense probably benign 0.13
R8444:Map3k9 UTSW 12 81,768,970 (GRCm39) missense probably damaging 1.00
R8456:Map3k9 UTSW 12 81,780,892 (GRCm39) missense probably damaging 0.98
R9025:Map3k9 UTSW 12 81,819,507 (GRCm39) missense probably damaging 1.00
R9090:Map3k9 UTSW 12 81,769,261 (GRCm39) missense probably benign 0.05
R9097:Map3k9 UTSW 12 81,819,855 (GRCm39) missense possibly damaging 0.84
R9271:Map3k9 UTSW 12 81,769,261 (GRCm39) missense probably benign 0.05
R9419:Map3k9 UTSW 12 81,827,341 (GRCm39) missense probably damaging 1.00
R9549:Map3k9 UTSW 12 81,771,255 (GRCm39) missense probably benign 0.06
R9596:Map3k9 UTSW 12 81,777,404 (GRCm39) missense probably damaging 1.00
X0025:Map3k9 UTSW 12 81,771,186 (GRCm39) missense possibly damaging 0.58
Z1176:Map3k9 UTSW 12 81,819,556 (GRCm39) missense possibly damaging 0.76
Z1177:Map3k9 UTSW 12 81,827,620 (GRCm39) missense unknown
Z1177:Map3k9 UTSW 12 81,769,053 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATCCAGGTCCAAAAGTGTCCG -3'
(R):5'- CCATTGTCTCTCTGACCAGG -3'

Sequencing Primer
(F):5'- CAGGTCCAAAAGTGTCCGTTCAG -3'
(R):5'- TCTCTGACCAGGCATGTTGAAAAC -3'
Posted On 2015-11-11