Incidental Mutation 'R4895:Map3k20'
ID 377541
Institutional Source Beutler Lab
Gene Symbol Map3k20
Ensembl Gene ENSMUSG00000004085
Gene Name mitogen-activated protein kinase kinase kinase 20
Synonyms B230120H23Rik, Zak, MLTKalpha, MLTKbeta
MMRRC Submission 042499-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4895 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 72115981-72272954 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 72232700 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000088334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090824] [ENSMUST00000135469]
AlphaFold Q9ESL4
Predicted Effect probably benign
Transcript: ENSMUST00000090824
SMART Domains Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085

DomainStartEndE-ValueType
Pfam:Pkinase 16 259 6.3e-56 PFAM
Pfam:Pkinase_Tyr 16 260 9.9e-64 PFAM
coiled coil region 277 328 N/A INTRINSIC
SAM 336 410 5.59e-7 SMART
low complexity region 643 668 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112073
Predicted Effect unknown
Transcript: ENSMUST00000135469
AA Change: N452S
SMART Domains Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
AA Change: N452S

DomainStartEndE-ValueType
Pfam:Pkinase 16 259 1.1e-59 PFAM
Pfam:Pkinase_Tyr 16 260 7.6e-65 PFAM
coiled coil region 277 328 N/A INTRINSIC
low complexity region 428 452 N/A INTRINSIC
Meta Mutation Damage Score 0.0749 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (84/86)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the MAPKKK family of signal transduction molecules and encodes a protein with an N-terminal kinase catalytic domain, followed by a leucine zipper motif and a sterile-alpha motif (SAM). This magnesium-binding protein forms homodimers and is located in the cytoplasm. The protein mediates gamma radiation signaling leading to cell cycle arrest and activity of this protein plays a role in cell cycle checkpoint regulation in cells. The protein also has pro-apoptotic activity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete lethality at E9.5 with growth retardation. Mice homozygous for an allele lacking the SAM domain exhibit low penetrant unilateral complex hindlimb duplication phenotype. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, other(2) Gene trapped(4)

Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519P11Rik C A 2: 154,454,990 (GRCm39) probably benign Het
Abat G A 16: 8,433,826 (GRCm39) A392T probably benign Het
Abca14 G A 7: 119,846,572 (GRCm39) probably null Het
Abcc6 A T 7: 45,630,414 (GRCm39) L1282Q possibly damaging Het
Acss2 A G 2: 155,392,401 (GRCm39) probably benign Het
Adgrf1 G T 17: 43,621,511 (GRCm39) V583L probably benign Het
Aftph T C 11: 20,646,801 (GRCm39) D825G probably damaging Het
Ahnak T C 19: 8,994,805 (GRCm39) V5363A probably benign Het
Apba3 G A 10: 81,107,117 (GRCm39) probably null Het
Asb13 T C 13: 3,693,589 (GRCm39) Y116H probably damaging Het
Asb4 C A 6: 5,398,266 (GRCm39) T77K probably damaging Het
Atp8b4 A T 2: 126,256,289 (GRCm39) H223Q probably benign Het
Best1 A G 19: 9,970,135 (GRCm39) L159P probably benign Het
Cacna1h A T 17: 25,608,396 (GRCm39) M731K probably damaging Het
Catspere1 T A 1: 177,687,427 (GRCm39) noncoding transcript Het
Cenpv A T 11: 62,418,346 (GRCm39) Y202* probably null Het
Cep57 A T 9: 13,727,449 (GRCm39) probably benign Het
Cfap100 T A 6: 90,383,084 (GRCm39) D363V possibly damaging Het
Cluh A G 11: 74,558,231 (GRCm39) Y1126C probably damaging Het
Cyp2j5 A G 4: 96,551,347 (GRCm39) probably null Het
Dnajc11 T C 4: 152,064,390 (GRCm39) F514L probably damaging Het
Efcab3 C T 11: 104,611,112 (GRCm39) T318I probably benign Het
Efcab3 T A 11: 105,008,227 (GRCm39) probably benign Het
Efcab3 A G 11: 104,640,496 (GRCm39) D1026G probably damaging Het
Eif2b4 T G 5: 31,350,298 (GRCm39) Q8P probably benign Het
Epha6 A T 16: 59,486,918 (GRCm39) V1043E probably benign Het
Gm11562 G T 11: 99,511,141 (GRCm39) Q20K unknown Het
Gm14415 A T 2: 176,796,114 (GRCm39) noncoding transcript Het
Gm5431 A G 11: 48,779,855 (GRCm39) S634P probably damaging Het
Gpld1 C A 13: 25,163,711 (GRCm39) N501K probably damaging Het
Gsn C T 2: 35,192,590 (GRCm39) R513C probably damaging Het
Gulp1 T C 1: 44,827,757 (GRCm39) F300L probably benign Het
H2aj T C 6: 136,785,660 (GRCm39) V108A possibly damaging Het
Haus3 T C 5: 34,325,414 (GRCm39) R82G probably benign Het
Herc2 G A 7: 55,872,734 (GRCm39) R4424H probably damaging Het
Hmcn1 T A 1: 150,553,130 (GRCm39) Q2520L probably benign Het
Hs2st1 T C 3: 144,171,014 (GRCm39) I53V probably benign Het
Inpp5e C T 2: 26,287,924 (GRCm39) R624Q probably damaging Het
Ints8 G T 4: 11,230,367 (GRCm39) C491* probably null Het
Itpkb C A 1: 180,241,460 (GRCm39) A710D probably damaging Het
Kcnk4 A C 19: 6,905,784 (GRCm39) probably null Het
Kmt2d T C 15: 98,742,368 (GRCm39) probably benign Het
Lamb3 C T 1: 193,014,622 (GRCm39) R594* probably null Het
Maz A T 7: 126,624,472 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Nbeal1 A G 1: 60,332,062 (GRCm39) E2252G probably damaging Het
Ndufa10 A G 1: 92,397,618 (GRCm39) Y61H probably damaging Het
Npat T A 9: 53,481,789 (GRCm39) L1166M probably damaging Het
Or12e1 A C 2: 87,022,192 (GRCm39) I54L probably benign Het
Or4c108 A T 2: 88,804,055 (GRCm39) F60Y probably benign Het
Or5ak20 A T 2: 85,183,341 (GRCm39) *310K probably null Het
Or5b97 C T 19: 12,878,251 (GRCm39) V298M probably damaging Het
Or5h22 C T 16: 58,895,020 (GRCm39) C141Y probably benign Het
Or5p66 A C 7: 107,885,802 (GRCm39) I177S probably damaging Het
Pcdhb3 T C 18: 37,434,759 (GRCm39) F242L probably damaging Het
Phip A G 9: 82,841,648 (GRCm39) V57A probably benign Het
Plekha7 A T 7: 115,788,626 (GRCm39) probably null Het
Pot1a A C 6: 25,753,205 (GRCm39) F444V probably damaging Het
Ppm1a C T 12: 72,831,126 (GRCm39) P217L probably damaging Het
Prepl A G 17: 85,388,494 (GRCm39) F203S probably damaging Het
Prl8a1 T C 13: 27,759,513 (GRCm39) I175V probably benign Het
Ranbp6 A T 19: 29,787,175 (GRCm39) I1059N possibly damaging Het
Rhag A G 17: 41,122,242 (GRCm39) Q59R probably benign Het
Sema4c A C 1: 36,592,651 (GRCm39) probably null Het
Sf3b3 T C 8: 111,542,656 (GRCm39) D902G probably benign Het
Tbc1d23 A G 16: 57,019,220 (GRCm39) probably null Het
Tbrg1 A T 9: 37,566,375 (GRCm39) I54N probably damaging Het
Tchh A T 3: 93,352,993 (GRCm39) E811V unknown Het
Tenm3 T A 8: 48,754,006 (GRCm39) D799V probably damaging Het
Tlr5 T C 1: 182,801,764 (GRCm39) L342P probably damaging Het
Tppp C T 13: 74,178,996 (GRCm39) R146* probably null Het
Trpm4 A T 7: 44,967,482 (GRCm39) M574K probably damaging Het
Uggt1 A T 1: 36,195,345 (GRCm39) F1288Y probably damaging Het
Uggt2 T A 14: 119,256,298 (GRCm39) K1124N probably damaging Het
Usf3 A C 16: 44,041,459 (GRCm39) S1980R possibly damaging Het
Vav2 T C 2: 27,208,973 (GRCm39) D100G probably damaging Het
Vmn2r3 G T 3: 64,167,182 (GRCm39) H650N probably benign Het
Vmn2r59 T A 7: 41,695,218 (GRCm39) Y398F probably damaging Het
Zfp619 A G 7: 39,187,396 (GRCm39) D1142G possibly damaging Het
Zfp933 G A 4: 147,910,892 (GRCm39) R235* probably null Het
Other mutations in Map3k20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Map3k20 APN 2 72,242,514 (GRCm39) missense probably damaging 1.00
IGL00333:Map3k20 APN 2 72,202,320 (GRCm39) missense probably damaging 0.99
IGL00505:Map3k20 APN 2 72,219,827 (GRCm39) missense probably damaging 1.00
IGL01472:Map3k20 APN 2 72,185,897 (GRCm39) splice site probably benign
IGL01982:Map3k20 APN 2 72,128,677 (GRCm39) nonsense probably null
IGL02556:Map3k20 APN 2 72,202,239 (GRCm39) missense probably damaging 0.98
IGL02831:Map3k20 APN 2 72,202,071 (GRCm39) missense probably damaging 1.00
3-1:Map3k20 UTSW 2 72,242,469 (GRCm39) missense probably damaging 1.00
R0765:Map3k20 UTSW 2 72,202,269 (GRCm39) missense probably damaging 1.00
R1160:Map3k20 UTSW 2 72,271,864 (GRCm39) missense probably benign 0.01
R1195:Map3k20 UTSW 2 72,268,562 (GRCm39) missense probably damaging 1.00
R1195:Map3k20 UTSW 2 72,268,562 (GRCm39) missense probably damaging 1.00
R1195:Map3k20 UTSW 2 72,268,562 (GRCm39) missense probably damaging 1.00
R1406:Map3k20 UTSW 2 72,219,838 (GRCm39) missense probably damaging 0.99
R1406:Map3k20 UTSW 2 72,219,838 (GRCm39) missense probably damaging 0.99
R1509:Map3k20 UTSW 2 72,194,968 (GRCm39) splice site probably benign
R1634:Map3k20 UTSW 2 72,240,521 (GRCm39) nonsense probably null
R1723:Map3k20 UTSW 2 72,219,836 (GRCm39) missense probably damaging 1.00
R1986:Map3k20 UTSW 2 72,271,638 (GRCm39) nonsense probably null
R2014:Map3k20 UTSW 2 72,268,604 (GRCm39) missense probably benign 0.00
R2086:Map3k20 UTSW 2 72,228,729 (GRCm39) missense probably benign 0.01
R2311:Map3k20 UTSW 2 72,198,784 (GRCm39) missense probably damaging 1.00
R2655:Map3k20 UTSW 2 72,263,764 (GRCm39) missense probably damaging 1.00
R3150:Map3k20 UTSW 2 72,202,336 (GRCm39) missense probably damaging 1.00
R3781:Map3k20 UTSW 2 72,232,699 (GRCm39) intron probably benign
R3950:Map3k20 UTSW 2 72,268,644 (GRCm39) missense probably damaging 0.99
R3951:Map3k20 UTSW 2 72,268,644 (GRCm39) missense probably damaging 0.99
R3952:Map3k20 UTSW 2 72,268,644 (GRCm39) missense probably damaging 0.99
R3981:Map3k20 UTSW 2 72,268,571 (GRCm39) missense probably damaging 0.99
R3982:Map3k20 UTSW 2 72,268,571 (GRCm39) missense probably damaging 0.99
R3983:Map3k20 UTSW 2 72,268,571 (GRCm39) missense probably damaging 0.99
R4011:Map3k20 UTSW 2 72,214,468 (GRCm39) splice site probably benign
R4180:Map3k20 UTSW 2 72,271,915 (GRCm39) missense probably damaging 0.97
R4790:Map3k20 UTSW 2 72,272,048 (GRCm39) missense probably benign
R4943:Map3k20 UTSW 2 72,202,262 (GRCm39) missense possibly damaging 0.90
R4983:Map3k20 UTSW 2 72,232,411 (GRCm39) missense probably benign 0.00
R5023:Map3k20 UTSW 2 72,232,689 (GRCm39) intron probably benign
R5157:Map3k20 UTSW 2 72,268,558 (GRCm39) missense probably benign 0.00
R5703:Map3k20 UTSW 2 72,232,514 (GRCm39) missense probably benign 0.00
R6134:Map3k20 UTSW 2 72,240,503 (GRCm39) missense probably damaging 0.99
R6322:Map3k20 UTSW 2 72,263,814 (GRCm39) missense possibly damaging 0.95
R6418:Map3k20 UTSW 2 72,232,457 (GRCm39) missense probably benign 0.15
R6449:Map3k20 UTSW 2 72,228,758 (GRCm39) missense probably damaging 1.00
R6495:Map3k20 UTSW 2 72,198,763 (GRCm39) missense probably damaging 1.00
R6508:Map3k20 UTSW 2 72,272,253 (GRCm39) missense probably benign 0.08
R7016:Map3k20 UTSW 2 72,208,979 (GRCm39) missense probably damaging 1.00
R7173:Map3k20 UTSW 2 72,271,758 (GRCm39) missense probably benign 0.06
R7319:Map3k20 UTSW 2 72,195,062 (GRCm39) missense probably damaging 1.00
R7635:Map3k20 UTSW 2 72,232,348 (GRCm39) missense probably benign 0.12
R7641:Map3k20 UTSW 2 72,228,705 (GRCm39) missense probably damaging 1.00
R7698:Map3k20 UTSW 2 72,268,658 (GRCm39) missense probably benign 0.16
R7698:Map3k20 UTSW 2 72,195,025 (GRCm39) nonsense probably null
R7872:Map3k20 UTSW 2 72,202,098 (GRCm39) missense probably damaging 0.97
R8008:Map3k20 UTSW 2 72,268,613 (GRCm39) missense probably benign 0.16
R8551:Map3k20 UTSW 2 72,232,704 (GRCm39) intron probably benign
R8861:Map3k20 UTSW 2 72,219,811 (GRCm39) splice site probably benign
R9284:Map3k20 UTSW 2 72,228,755 (GRCm39) nonsense probably null
R9300:Map3k20 UTSW 2 72,202,257 (GRCm39) missense probably damaging 1.00
R9339:Map3k20 UTSW 2 72,272,216 (GRCm39) missense possibly damaging 0.92
R9635:Map3k20 UTSW 2 72,232,403 (GRCm39) missense possibly damaging 0.91
R9642:Map3k20 UTSW 2 72,272,181 (GRCm39) missense probably damaging 1.00
Z1177:Map3k20 UTSW 2 72,128,659 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGCTGCATTCTGGGATGCAG -3'
(R):5'- TCACACTGATGAGGGAAACG -3'

Sequencing Primer
(F):5'- CTGCATTCTGGGATGCAGATAAAC -3'
(R):5'- CCTAAACGAGCTTGGCCTAAGG -3'
Posted On 2016-03-17