Incidental Mutation 'R5703:Map3k20'
ID 451778
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 043183-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5703 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 72115981-72272954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72232514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 390 (N390S)
Ref Sequence ENSEMBL: ENSMUSP00000118983 (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 probably benign
Transcript: ENSMUST00000135469
AA Change: N390S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
AA Change: N390S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,459,640 (GRCm39) N605I probably damaging Het
Btd C T 14: 31,389,004 (GRCm39) R242* probably null Het
Cdc42bpg A G 19: 6,372,703 (GRCm39) D1502G possibly damaging Het
Chst2 A G 9: 95,286,985 (GRCm39) F454L probably damaging Het
Col16a1 G A 4: 129,947,092 (GRCm39) A146T probably damaging Het
Cyp3a11 A T 5: 145,797,183 (GRCm39) S399T probably benign Het
Dspp C T 5: 104,324,917 (GRCm39) H427Y possibly damaging Het
Dtx4 A T 19: 12,459,574 (GRCm39) M410K possibly damaging Het
Ecpas A T 4: 58,877,171 (GRCm39) probably null Het
Epb41l2 C T 10: 25,317,665 (GRCm39) R61W probably damaging Het
Gbp6 T C 5: 105,421,147 (GRCm39) K553E probably benign Het
Git1 CCG C 11: 77,395,494 (GRCm39) probably null Het
Gm13199 C T 2: 5,867,259 (GRCm39) probably benign Het
Gramd2a G A 9: 59,615,299 (GRCm39) G13R probably benign Het
Hoxa2 G T 6: 52,140,243 (GRCm39) Q248K probably damaging Het
Hycc1 A T 5: 24,185,577 (GRCm39) probably null Het
Krt33b T C 11: 99,916,374 (GRCm39) T228A probably benign Het
Loxhd1 A G 18: 77,444,573 (GRCm39) E324G probably damaging Het
Mroh7 A G 4: 106,565,757 (GRCm39) Y126H possibly damaging Het
Muc4 G A 16: 32,555,059 (GRCm39) W15* probably null Het
Ndrg2 T A 14: 52,147,579 (GRCm39) probably null Het
Ntsr1 T C 2: 180,142,226 (GRCm39) S6P probably damaging Het
Or5m10 T C 2: 85,717,783 (GRCm39) I213T probably benign Het
Or5p70 G A 7: 107,994,707 (GRCm39) V127I probably benign Het
Pcdhb6 A T 18: 37,467,753 (GRCm39) T225S probably benign Het
Rfng C A 11: 120,672,842 (GRCm39) V294L probably benign Het
Scml4 C T 10: 42,741,566 (GRCm39) probably benign Het
Slc5a2 A G 7: 127,869,787 (GRCm39) I407V possibly damaging Het
Strc T C 2: 121,201,295 (GRCm39) T1267A probably benign Het
Tanc1 T C 2: 59,626,341 (GRCm39) V566A probably damaging Het
Tas1r2 T C 4: 139,394,647 (GRCm39) S468P probably damaging Het
Tenm2 T A 11: 35,914,626 (GRCm39) T2304S probably benign Het
Tirap A T 9: 35,100,054 (GRCm39) L210Q probably damaging Het
Vav3 A T 3: 109,248,557 (GRCm39) Q68L probably benign Het
Vmn2r54 C T 7: 12,363,594 (GRCm39) S433N probably benign Het
Wars1 A T 12: 108,841,047 (GRCm39) Y244N probably damaging Het
Zc3h6 A G 2: 128,835,372 (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
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
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'- TCCCCTGACTGAAATTGGTAC -3'
(R):5'- CAGCATCGTCACCATCATGG -3'

Sequencing Primer
(F):5'- CCCTGACTGAAATTGGTACTAATTTC -3'
(R):5'- ATCATGGTCATCATCGTCACC -3'
Posted On 2017-01-03