Incidental Mutation 'R9300:Map3k20'
ID 704832
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9300 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 72115981-72272954 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72202257 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 163 (H163Y)
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: H163Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088334
Gene: ENSMUSG00000004085
AA Change: H163Y

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 damaging
Transcript: ENSMUST00000135469
AA Change: H163Y

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000118983
Gene: ENSMUSG00000004085
AA Change: H163Y

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b G A 5: 8,875,614 (GRCm39) V596I probably benign Het
Acad8 A T 9: 26,888,928 (GRCm39) H371Q probably damaging Het
Actn3 G T 19: 4,921,656 (GRCm39) R175S probably benign Het
Adamts9 G T 6: 92,864,371 (GRCm39) D780E probably benign Het
AK157302 C A 13: 21,679,537 (GRCm39) T21K probably benign Het
Ank3 A T 10: 69,706,872 (GRCm39) H329L unknown Het
Ankrd36 A G 11: 5,519,979 (GRCm39) H18R possibly damaging Het
Anks1b T A 10: 90,412,966 (GRCm39) V38D possibly damaging Het
Apbb2 A T 5: 66,470,677 (GRCm39) L520H probably damaging Het
Arid1b C A 17: 5,293,274 (GRCm39) P731T probably damaging Het
Atp1a4 A G 1: 172,067,398 (GRCm39) F578S probably damaging Het
Atp6v0a2 A T 5: 124,789,312 (GRCm39) I360F probably damaging Het
Bcas3 A T 11: 85,448,184 (GRCm39) I600F probably damaging Het
C1qtnf7 T G 5: 43,766,441 (GRCm39) C20W possibly damaging Het
Cadm1 A T 9: 47,708,821 (GRCm39) K184* probably null Het
Ccdc138 A T 10: 58,343,448 (GRCm39) H101L probably benign Het
Cep120 T A 18: 53,852,369 (GRCm39) N503I probably damaging Het
Chil4 T C 3: 106,109,874 (GRCm39) T380A probably benign Het
Clip2 A G 5: 134,526,942 (GRCm39) probably null Het
Cyp3a11 G A 5: 145,799,164 (GRCm39) P341L possibly damaging Het
Cyp3a41a G C 5: 145,656,906 (GRCm39) probably benign Het
Dcaf1 A G 9: 106,725,042 (GRCm39) I509M possibly damaging Het
Dcaf13 T C 15: 39,010,102 (GRCm39) S429P probably damaging Het
Eln A G 5: 134,758,220 (GRCm39) V151A unknown Het
Endou T G 15: 97,610,954 (GRCm39) M377L probably benign Het
Etfa A G 9: 55,396,152 (GRCm39) I138T probably damaging Het
Fbxw10 T A 11: 62,768,109 (GRCm39) S982T probably benign Het
Gm9602 A T 14: 15,933,435 (GRCm39) R47* probably null Het
Hectd4 G A 5: 121,486,952 (GRCm39) V3316I probably benign Het
Hif1a T C 12: 73,987,302 (GRCm39) L477S probably benign Het
Icam5 G C 9: 20,946,846 (GRCm39) G458A probably benign Het
Itm2b A T 14: 73,603,896 (GRCm39) D106E probably benign Het
Kdm4d G A 9: 14,375,336 (GRCm39) T174M probably damaging Het
Kif16b G T 2: 142,541,207 (GRCm39) D1364E probably benign Het
Lbhd1 G A 19: 8,861,550 (GRCm39) V61M probably damaging Het
Lclat1 T A 17: 73,546,919 (GRCm39) S279T probably benign Het
Lhx4 G A 1: 155,580,956 (GRCm39) L190F probably damaging Het
Lima1 C T 15: 99,704,320 (GRCm39) S283N probably benign Het
Magi1 C A 6: 93,724,209 (GRCm39) D496Y probably damaging Het
Map1a T C 2: 121,133,446 (GRCm39) S1421P probably damaging Het
Mier3 T G 13: 111,822,890 (GRCm39) probably null Het
Mllt3 G A 4: 87,692,284 (GRCm39) Q560* probably null Het
Mmp25 T A 17: 23,851,728 (GRCm39) D327V probably benign Het
Nckap5 G A 1: 125,909,423 (GRCm39) Q1603* probably null Het
Nell1 G A 7: 49,712,368 (GRCm39) V63I probably benign Het
Or10al3 C T 17: 38,011,815 (GRCm39) P85S probably damaging Het
Or2ag2b A T 7: 106,418,111 (GRCm39) I274F probably benign Het
Or8a1 A C 9: 37,641,578 (GRCm39) S234A probably benign Het
Pde12 C T 14: 26,386,931 (GRCm39) E526K probably damaging Het
Pfn4 T C 12: 4,825,442 (GRCm39) V93A possibly damaging Het
Poglut2 A G 1: 44,156,362 (GRCm39) I75T possibly damaging Het
Ppp2r3d A G 9: 124,423,977 (GRCm38) S60P unknown Het
Prelp T C 1: 133,842,257 (GRCm39) H296R probably damaging Het
Prickle1 T C 15: 93,398,749 (GRCm39) E693G possibly damaging Het
Rars1 A G 11: 35,706,488 (GRCm39) L477P probably damaging Het
Rasal1 G A 5: 120,802,172 (GRCm39) R328H probably damaging Het
Rasef A G 4: 73,659,393 (GRCm39) F220S probably benign Het
Rif1 C T 2: 52,001,151 (GRCm39) S1535L probably damaging Het
Rnf17 T C 14: 56,697,495 (GRCm39) I463T possibly damaging Het
Ryr3 A T 2: 112,690,695 (GRCm39) D1138E probably benign Het
Scn9a T A 2: 66,335,236 (GRCm39) Y1251F probably benign Het
Sdk2 A G 11: 113,715,856 (GRCm39) W1568R possibly damaging Het
Senp6 A G 9: 80,049,433 (GRCm39) E1019G probably damaging Het
Shh A G 5: 28,663,461 (GRCm39) Y236H probably damaging Het
Sin3a A G 9: 57,014,744 (GRCm39) D655G probably damaging Het
Slc35a4 C T 18: 36,815,274 (GRCm39) P35S probably damaging Het
Slc35g1 T C 19: 38,384,633 (GRCm39) L24P probably benign Het
Slc39a4 G T 15: 76,498,759 (GRCm39) Q312K probably damaging Het
Slc6a5 A T 7: 49,601,175 (GRCm39) I659F probably damaging Het
Slc7a4 T C 16: 17,392,399 (GRCm39) Y345C probably benign Het
Slco6c1 G T 1: 96,993,809 (GRCm39) R645S probably benign Het
Soat1 T C 1: 156,268,923 (GRCm39) Y209C probably benign Het
Tbc1d9b T C 11: 50,054,714 (GRCm39) S953P probably benign Het
Tgm1 G A 14: 55,942,303 (GRCm39) H683Y probably benign Het
Tmem98 G A 11: 80,708,432 (GRCm39) R134Q probably damaging Het
Trpm3 A C 19: 22,955,745 (GRCm39) M1107L possibly damaging Het
Vmn1r11 G A 6: 57,114,872 (GRCm39) V179I probably benign Het
Vmn1r119 G T 7: 20,745,638 (GRCm39) T248K probably damaging Het
Vmn1r236 T A 17: 21,506,945 (GRCm39) I21N possibly damaging Het
Vmn2r24 A G 6: 123,793,030 (GRCm39) T786A possibly damaging Het
Vstm5 A T 9: 15,168,585 (GRCm39) I50F probably damaging Het
Wdr1 T C 5: 38,685,255 (GRCm39) D572G probably damaging Het
Xaf1 T C 11: 72,192,517 (GRCm39) F5S probably benign Het
Zan A T 5: 137,468,519 (GRCm39) probably null Het
Zfp697 T C 3: 98,334,979 (GRCm39) V248A possibly damaging Het
Zftraf1 C A 15: 76,530,541 (GRCm39) V260L probably benign Het
Zkscan3 T A 13: 21,577,667 (GRCm39) T249S unknown Het
Znfx1 A G 2: 166,897,860 (GRCm39) Y355H probably damaging 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
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
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'- CAGTTGTTATCGCTGCTGACG -3'
(R):5'- GAAAGCCCCTCCCTAATGCTTC -3'

Sequencing Primer
(F):5'- CGGAGTGCTGAAGGTAGGAC -3'
(R):5'- TGGATGACCCAACTGTCTCAG -3'
Posted On 2022-03-25