Incidental Mutation 'R6134:Map3k20'
ID 487263
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 044281-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6134 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 72115981-72272954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72240503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 333 (S333F)
Ref Sequence ENSEMBL: ENSMUSP00000088334 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090824] [ENSMUST00000135469]
AlphaFold Q9ESL4
Predicted Effect probably damaging
Transcript: ENSMUST00000090824
AA Change: S333F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: S333F

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 probably benign
Transcript: ENSMUST00000135469
SMART Domains Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085

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 0.1094 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 94% (51/54)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik G A 11: 58,767,619 (GRCm39) E39K probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Aktip T A 8: 91,856,388 (GRCm39) S30C probably damaging Het
Anxa10 G T 8: 62,530,977 (GRCm39) H78N probably damaging Het
Aoah C T 13: 21,095,293 (GRCm39) R196W probably damaging Het
Arl4c A T 1: 88,629,152 (GRCm39) W79R probably damaging Het
Brd2 A T 17: 34,332,669 (GRCm39) D178E probably benign Het
Cacna1e G A 1: 154,577,037 (GRCm39) P120L probably damaging Het
Cdh16 A T 8: 105,342,697 (GRCm39) M17K probably benign Het
Cdhr17 A T 5: 17,029,683 (GRCm39) D473V probably damaging Het
Chit1 A G 1: 134,071,798 (GRCm39) T103A possibly damaging Het
Clcn3 T C 8: 61,387,607 (GRCm39) Y214C probably damaging Het
Coch T A 12: 51,649,536 (GRCm39) D282E probably damaging Het
Col1a2 C A 6: 4,538,035 (GRCm39) S1181R unknown Het
Col6a2 T C 10: 76,442,978 (GRCm39) D506G probably damaging Het
Crx A T 7: 15,602,032 (GRCm39) Y215* probably null Het
Fasn A T 11: 120,713,012 (GRCm39) S58T probably benign Het
Fhip1a T C 3: 85,580,651 (GRCm39) E518G possibly damaging Het
Garem1 A T 18: 21,262,881 (GRCm39) D644E probably benign Het
H2-Q2 A C 17: 35,562,217 (GRCm39) T155P probably damaging Het
Insr A T 8: 3,242,572 (GRCm39) I49N probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lnpep A G 17: 17,773,454 (GRCm39) M639T probably benign Het
Lypd11 G A 7: 24,425,481 (GRCm39) A3V probably damaging Het
Miga2 A G 2: 30,261,229 (GRCm39) S175G probably benign Het
Muc3a A T 5: 137,244,579 (GRCm39) I191N probably damaging Het
Ncoa2 A G 1: 13,244,595 (GRCm39) V701A probably damaging Het
Nid2 T C 14: 19,828,851 (GRCm39) V565A probably damaging Het
Nova2 G A 7: 18,691,794 (GRCm39) A244T unknown Het
Numbl G C 7: 26,980,739 (GRCm39) A574P probably damaging Het
Oas3 A G 5: 120,907,113 (GRCm39) V508A unknown Het
Or8b36 ATTGCTGTTT ATTGCTGTTTGCTGTTT 9: 37,937,836 (GRCm39) probably null Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Pcdhb21 T A 18: 37,647,461 (GRCm39) S197T probably benign Het
Pck2 T A 14: 55,781,419 (GRCm39) M180K probably damaging Het
Pgr T C 9: 8,900,740 (GRCm39) V91A possibly damaging Het
Phtf1 A T 3: 103,911,721 (GRCm39) M643L probably damaging Het
Prokr1 T C 6: 87,565,837 (GRCm39) T3A possibly damaging Het
Ptgs1 T C 2: 36,141,190 (GRCm39) Y546H probably damaging Het
Rasa1 A G 13: 85,374,745 (GRCm39) L742P probably benign Het
Rbbp6 T C 7: 122,596,534 (GRCm39) probably null Het
Rgs22 A G 15: 36,107,194 (GRCm39) L64P probably damaging Het
Rnf213 A T 11: 119,302,296 (GRCm39) I407F probably damaging Het
Rp1l1 C T 14: 64,267,545 (GRCm39) P1044S probably damaging Het
Scin G A 12: 40,110,578 (GRCm39) P690L probably damaging Het
Septin9 T C 11: 117,242,987 (GRCm39) L58P probably damaging Het
Slc1a7 A G 4: 107,869,633 (GRCm39) E566G probably damaging Het
Speer4f1 G A 5: 17,681,140 (GRCm39) R6Q probably benign Het
Tnxb A T 17: 34,890,986 (GRCm39) Y443F probably damaging Het
Trpv1 A G 11: 73,135,143 (GRCm39) I79V probably benign Het
Ttll6 C T 11: 96,030,568 (GRCm39) T245I possibly damaging Het
Vmn2r26 T C 6: 124,038,444 (GRCm39) I673T probably damaging Het
Zfp60 T C 7: 27,449,323 (GRCm39) F664L 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
R5703:Map3k20 UTSW 2 72,232,514 (GRCm39) missense probably benign 0.00
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'- GACTGGCTCTGAGAAGTGAG -3'
(R):5'- TCTCCTAAGGCTTGAAGACCTAG -3'

Sequencing Primer
(F):5'- CTGAGAAGTGAGGGAACGGTTTTC -3'
(R):5'- GACCTAGTTGCTTTTACCATAGAGTC -3'
Posted On 2017-10-10