Incidental Mutation 'R4943:Map3k20'
ID 383243
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 042540-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4943 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 72115981-72272954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72202262 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 164 (M164I)
Ref Sequence ENSEMBL: ENSMUSP00000118983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090824] [ENSMUST00000135469]
AlphaFold Q9ESL4
Predicted Effect possibly damaging
Transcript: ENSMUST00000090824
AA Change: M164I

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: M164I

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 possibly damaging
Transcript: ENSMUST00000135469
AA Change: M164I

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
AA Change: M164I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150126
Meta Mutation Damage Score 0.1375 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 99% (81/82)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C A 13: 77,393,446 (GRCm39) T366K possibly damaging Het
2510039O18Rik T A 4: 148,029,555 (GRCm39) H508Q probably damaging Het
Aadacl4fm5 T A 4: 144,504,290 (GRCm39) E287V probably benign Het
Actl9 G A 17: 33,652,059 (GRCm39) V40M possibly damaging Het
Aen T A 7: 78,552,109 (GRCm39) V23E probably damaging Het
Agbl1 G A 7: 76,069,764 (GRCm39) R432K probably benign Het
Akap13 T A 7: 75,398,988 (GRCm39) F2689I probably benign Het
Arhgap45 A G 10: 79,862,337 (GRCm39) S475G probably benign Het
Atg7 A C 6: 114,674,045 (GRCm39) Q231P probably benign Het
Calr3 A T 8: 73,185,221 (GRCm39) V226D probably benign Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Cops4 A T 5: 100,695,292 (GRCm39) M404L probably benign Het
Cpne4 A T 9: 104,896,972 (GRCm39) H375L probably damaging Het
D16Ertd472e A T 16: 78,372,877 (GRCm39) V20D probably damaging Het
Dcun1d5 T C 9: 7,186,844 (GRCm39) F55L possibly damaging Het
Dhx8 T A 11: 101,628,526 (GRCm39) L93* probably null Het
Dtx4 A G 19: 12,478,424 (GRCm39) L53P probably damaging Het
Ern2 C T 7: 121,772,481 (GRCm39) R659H possibly damaging Het
Etl4 G A 2: 20,812,092 (GRCm39) A1392T probably benign Het
Fat2 T C 11: 55,169,859 (GRCm39) R2967G probably benign Het
Fat4 A G 3: 39,034,322 (GRCm39) D2658G probably benign Het
Ftsj3 A G 11: 106,140,344 (GRCm39) V808A probably damaging Het
Gm10447 A T 11: 53,347,216 (GRCm39) Y104* probably null Het
Gm27013 A T 6: 130,653,163 (GRCm39) C766* probably null Het
Gm5581 A G 6: 131,144,088 (GRCm39) noncoding transcript Het
Gpr158 G A 2: 21,831,968 (GRCm39) V1023I probably damaging Het
Hectd2 T G 19: 36,581,647 (GRCm39) probably null Het
Hmcn2 T C 2: 31,225,504 (GRCm39) Y138H probably damaging Het
Kif28 T C 1: 179,541,516 (GRCm39) I369V probably benign Het
Kif4-ps C T 12: 101,115,476 (GRCm39) noncoding transcript Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Map4k4 A G 1: 40,058,754 (GRCm39) I1050V probably damaging Het
Med23 T A 10: 24,751,567 (GRCm39) V133D possibly damaging Het
Mycn A T 12: 12,987,080 (GRCm39) L439Q probably damaging Het
Myh2 G T 11: 67,088,143 (GRCm39) A1920S probably damaging Het
Myom3 T C 4: 135,541,585 (GRCm39) V1392A possibly damaging Het
Nktr T A 9: 121,549,020 (GRCm39) probably benign Het
Nme3 A G 17: 25,115,697 (GRCm39) K48E probably damaging Het
Nt5dc1 T C 10: 34,186,387 (GRCm39) R58G probably damaging Het
Nup205 A G 6: 35,201,574 (GRCm39) E1270G probably damaging Het
Or12d16-ps1 G T 17: 37,705,916 (GRCm39) A162S probably benign Het
Or4e2 C G 14: 52,688,051 (GRCm39) Y60* probably null Het
Or51l4 A T 7: 103,404,503 (GRCm39) F96L probably benign Het
Or8c20 C T 9: 38,260,924 (GRCm39) H176Y probably damaging Het
Pclo T C 5: 14,762,651 (GRCm39) L3708P unknown Het
Pde4dip A T 3: 97,662,827 (GRCm39) N590K probably damaging Het
Prokr1 A C 6: 87,558,806 (GRCm39) I193S possibly damaging Het
Pxdc1 C A 13: 34,822,989 (GRCm39) probably null Het
Rapgef2 A T 3: 78,971,854 (GRCm39) S1494T probably benign Het
Rbms3 G C 9: 116,507,573 (GRCm39) probably benign Het
Reep3 T A 10: 66,932,042 (GRCm39) probably benign Het
Rwdd2b T C 16: 87,231,422 (GRCm39) K244R possibly damaging Het
Srrm2 T C 17: 24,041,389 (GRCm39) V2533A possibly damaging Het
Stab2 T C 10: 86,790,026 (GRCm39) Y580C probably damaging Het
Stac2 G T 11: 97,932,398 (GRCm39) S198R probably benign Het
Tdp2 T A 13: 25,022,248 (GRCm39) N222K probably benign Het
Tex21 A G 12: 76,268,474 (GRCm39) S103P probably damaging Het
Thbs1 A T 2: 117,943,930 (GRCm39) I183F probably damaging Het
Tm9sf1 T C 14: 55,878,625 (GRCm39) I256V probably damaging Het
Tmem207 C T 16: 26,336,603 (GRCm39) W50* probably null Het
Trpm2 C A 10: 77,801,841 (GRCm39) V75L probably damaging Het
Vmn1r227 A T 17: 20,955,623 (GRCm39) noncoding transcript Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vmn2r75 A T 7: 85,814,705 (GRCm39) S263T probably damaging Het
Wdr64 G A 1: 175,547,882 (GRCm39) V140I probably benign Het
Xpo4 T C 14: 57,875,697 (GRCm39) I145M possibly damaging Het
Zan G A 5: 137,456,152 (GRCm39) T1336I unknown Het
Zdbf2 G T 1: 63,342,073 (GRCm39) V151F possibly damaging Het
Zfhx3 T C 8: 109,674,949 (GRCm39) S2000P probably damaging Het
Zfp65 T A 13: 67,859,099 (GRCm39) I12F probably damaging Het
Zfp703 C A 8: 27,469,619 (GRCm39) Q428K probably benign Het
Zfp947 A C 17: 22,364,813 (GRCm39) M287R probably benign Het
Zfp976 A T 7: 42,261,846 (GRCm39) probably benign 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
R4895:Map3k20 UTSW 2 72,232,700 (GRCm39) intron probably benign
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'- TCCAGTTGTTATCGCTGCTG -3'
(R):5'- TGGATGACCCAACTGTCTCAG -3'

Sequencing Primer
(F):5'- GTTATCGCTGCTGACGGAG -3'
(R):5'- CTGTCTCAGGCACAAGGAAGC -3'
Posted On 2016-04-27