Incidental Mutation 'R6874:Map3k6'
ID 536298
Institutional Source Beutler Lab
Gene Symbol Map3k6
Ensembl Gene ENSMUSG00000028862
Gene Name mitogen-activated protein kinase kinase kinase 6
Synonyms Ask2, MEKK6, MAPKKK6
MMRRC Submission 045029-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.324) question?
Stock # R6874 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 132968129-132980240 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 132977967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 976 (E976K)
Ref Sequence ENSEMBL: ENSMUSP00000030677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030674] [ENSMUST00000030677] [ENSMUST00000105908]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030674
SMART Domains Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860

DomainStartEndE-ValueType
PDB:3BC1|F 40 92 2e-9 PDB
low complexity region 169 183 N/A INTRINSIC
low complexity region 235 262 N/A INTRINSIC
C2 288 389 2.36e-17 SMART
C2 429 532 6.96e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000030677
AA Change: E976K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: E976K

DomainStartEndE-ValueType
low complexity region 98 109 N/A INTRINSIC
Pfam:DUF4071 130 508 2.3e-150 PFAM
S_TKc 649 907 3.49e-87 SMART
low complexity region 925 940 N/A INTRINSIC
low complexity region 947 960 N/A INTRINSIC
low complexity region 975 990 N/A INTRINSIC
low complexity region 1130 1146 N/A INTRINSIC
coiled coil region 1164 1195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105908
SMART Domains Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860

DomainStartEndE-ValueType
PDB:3BC1|F 40 92 2e-9 PDB
low complexity region 157 171 N/A INTRINSIC
low complexity region 223 250 N/A INTRINSIC
C2 276 359 3.15e-4 SMART
C2 364 467 6.96e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,851,428 (GRCm39) D802G possibly damaging Het
Acsl5 A G 19: 55,280,295 (GRCm39) T523A probably damaging Het
Adamts7 A T 9: 90,070,784 (GRCm39) D635V probably damaging Het
Akr1c12 C A 13: 4,322,959 (GRCm39) G217C probably benign Het
Astn1 C A 1: 158,491,644 (GRCm39) S1007* probably null Het
Cntln T C 4: 84,985,996 (GRCm39) L988P probably damaging Het
Dcps A T 9: 35,087,263 (GRCm39) M1K probably null Het
Dnai1 T A 4: 41,632,412 (GRCm39) L582Q probably damaging Het
Dst A T 1: 34,328,732 (GRCm39) Q7118L probably benign Het
Ehd2 T A 7: 15,684,363 (GRCm39) T479S probably benign Het
Fbxl7 T C 15: 26,553,028 (GRCm39) I80V probably benign Het
Fry T C 5: 150,360,768 (GRCm39) V125A probably benign Het
Gm12695 A T 4: 96,673,306 (GRCm39) I31K probably benign Het
Gm5591 T C 7: 38,219,715 (GRCm39) E386G probably damaging Het
Helz G T 11: 107,554,460 (GRCm39) R1219S probably damaging Het
Hes3 G T 4: 152,371,695 (GRCm39) P85T possibly damaging Het
Igkv3-2 A T 6: 70,675,822 (GRCm39) R44* probably null Het
Igsf9 A G 1: 172,322,096 (GRCm39) T496A probably benign Het
Irf2bp1 G T 7: 18,739,142 (GRCm39) A261S possibly damaging Het
Jph2 G A 2: 163,181,407 (GRCm39) P586S probably benign Het
Klhl11 T C 11: 100,363,031 (GRCm39) H175R probably benign Het
Ksr2 G T 5: 117,894,401 (GRCm39) E847* probably null Het
Lats1 T A 10: 7,586,615 (GRCm39) Y926N probably damaging Het
Lmbr1 A T 5: 29,497,904 (GRCm39) L33H probably damaging Het
Lrp10 T C 14: 54,705,670 (GRCm39) S287P possibly damaging Het
Mfsd6 T A 1: 52,699,868 (GRCm39) D760V probably benign Het
Muc16 G T 9: 18,570,065 (GRCm39) S818* probably null Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Nagpa T C 16: 5,013,921 (GRCm39) T306A probably benign Het
Nisch G T 14: 30,898,641 (GRCm39) probably benign Het
Nrxn3 T C 12: 90,298,964 (GRCm39) V1028A probably damaging Het
Nucb1 T C 7: 45,152,618 (GRCm39) N75S probably benign Het
Or11a4 T C 17: 37,536,238 (GRCm39) V74A probably benign Het
Or1e1d-ps1 T G 11: 73,819,068 (GRCm39) M6R probably null Het
Or51a43 T A 7: 103,717,396 (GRCm39) I281F possibly damaging Het
Or5h23 T A 16: 58,906,312 (GRCm39) Y178F probably benign Het
Or7g19 T A 9: 18,856,777 (GRCm39) Y278N possibly damaging Het
Or8b57 A G 9: 40,004,022 (GRCm39) V80A probably benign Het
Or8k24 C T 2: 86,215,872 (GRCm39) V297I possibly damaging Het
Pik3c2a A G 7: 115,993,540 (GRCm39) L409S probably damaging Het
Pkhd1l1 T A 15: 44,452,923 (GRCm39) D3949E probably benign Het
Prune2 C A 19: 17,100,592 (GRCm39) P2032Q probably damaging Het
Ptms T C 6: 124,891,194 (GRCm39) probably benign Het
Ptp4a3 A G 15: 73,595,259 (GRCm39) probably benign Het
Ptprq T C 10: 107,554,460 (GRCm39) I88M possibly damaging Het
Radil T A 5: 142,492,557 (GRCm39) D357V probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Supt20 A G 3: 54,635,175 (GRCm39) probably null Het
Thoc5 T C 11: 4,851,261 (GRCm39) I69T probably damaging Het
Trib2 G C 12: 15,865,338 (GRCm39) S79W probably damaging Het
Trpc6 A G 9: 8,680,439 (GRCm39) D889G probably damaging Het
Usf3 T C 16: 44,040,103 (GRCm39) S1528P probably benign Het
Vax1 A T 19: 59,156,955 (GRCm39) V126E unknown Het
Vgf A G 5: 137,060,386 (GRCm39) probably benign Het
Vmn2r1 T A 3: 64,012,376 (GRCm39) C746S probably damaging Het
Vmn2r77 A G 7: 86,451,286 (GRCm39) T391A probably benign Het
Zfp738 C A 13: 67,818,382 (GRCm39) E536D possibly damaging Het
Other mutations in Map3k6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Map3k6 APN 4 132,970,355 (GRCm39) splice site probably benign
IGL01060:Map3k6 APN 4 132,974,613 (GRCm39) splice site probably null
IGL01116:Map3k6 APN 4 132,974,439 (GRCm39) missense probably damaging 0.98
IGL01341:Map3k6 APN 4 132,975,371 (GRCm39) missense possibly damaging 0.67
IGL02383:Map3k6 APN 4 132,973,932 (GRCm39) splice site probably null
IGL03090:Map3k6 APN 4 132,970,677 (GRCm39) missense probably benign 0.05
IGL03096:Map3k6 APN 4 132,978,656 (GRCm39) nonsense probably null
IGL03149:Map3k6 APN 4 132,976,999 (GRCm39) missense probably damaging 1.00
R0110:Map3k6 UTSW 4 132,971,105 (GRCm39) missense probably damaging 1.00
R0142:Map3k6 UTSW 4 132,978,257 (GRCm39) missense probably benign
R0189:Map3k6 UTSW 4 132,974,252 (GRCm39) missense possibly damaging 0.46
R0368:Map3k6 UTSW 4 132,979,970 (GRCm39) missense probably benign 0.23
R0417:Map3k6 UTSW 4 132,975,393 (GRCm39) nonsense probably null
R0595:Map3k6 UTSW 4 132,968,574 (GRCm39) missense probably damaging 0.98
R0597:Map3k6 UTSW 4 132,972,863 (GRCm39) missense possibly damaging 0.46
R0699:Map3k6 UTSW 4 132,975,437 (GRCm39) missense probably damaging 1.00
R1099:Map3k6 UTSW 4 132,974,439 (GRCm39) missense probably damaging 1.00
R1113:Map3k6 UTSW 4 132,973,126 (GRCm39) missense probably damaging 1.00
R1308:Map3k6 UTSW 4 132,973,126 (GRCm39) missense probably damaging 1.00
R1607:Map3k6 UTSW 4 132,979,784 (GRCm39) missense probably damaging 1.00
R2217:Map3k6 UTSW 4 132,973,983 (GRCm39) missense possibly damaging 0.46
R3734:Map3k6 UTSW 4 132,975,707 (GRCm39) missense possibly damaging 0.79
R3735:Map3k6 UTSW 4 132,973,683 (GRCm39) missense probably benign 0.21
R3743:Map3k6 UTSW 4 132,972,384 (GRCm39) missense probably benign 0.26
R4244:Map3k6 UTSW 4 132,979,258 (GRCm39) missense possibly damaging 0.65
R4245:Map3k6 UTSW 4 132,979,258 (GRCm39) missense possibly damaging 0.65
R4465:Map3k6 UTSW 4 132,973,644 (GRCm39) missense possibly damaging 0.66
R4482:Map3k6 UTSW 4 132,970,710 (GRCm39) missense probably benign 0.00
R4827:Map3k6 UTSW 4 132,976,160 (GRCm39) missense possibly damaging 0.92
R5092:Map3k6 UTSW 4 132,979,054 (GRCm39) missense probably benign 0.00
R5110:Map3k6 UTSW 4 132,974,859 (GRCm39) intron probably benign
R5258:Map3k6 UTSW 4 132,974,953 (GRCm39) missense possibly damaging 0.81
R5369:Map3k6 UTSW 4 132,974,992 (GRCm39) missense probably damaging 0.99
R5642:Map3k6 UTSW 4 132,972,855 (GRCm39) missense probably damaging 0.99
R5648:Map3k6 UTSW 4 132,970,646 (GRCm39) missense probably benign 0.25
R6102:Map3k6 UTSW 4 132,974,442 (GRCm39) critical splice donor site probably null
R6144:Map3k6 UTSW 4 132,972,986 (GRCm39) missense probably damaging 1.00
R6476:Map3k6 UTSW 4 132,977,397 (GRCm39) missense probably damaging 0.98
R6511:Map3k6 UTSW 4 132,975,389 (GRCm39) missense probably damaging 0.98
R6522:Map3k6 UTSW 4 132,977,335 (GRCm39) missense possibly damaging 0.65
R6706:Map3k6 UTSW 4 132,978,250 (GRCm39) nonsense probably null
R7069:Map3k6 UTSW 4 132,979,023 (GRCm39) missense probably benign 0.01
R7216:Map3k6 UTSW 4 132,974,211 (GRCm39) missense probably damaging 0.99
R7417:Map3k6 UTSW 4 132,975,707 (GRCm39) missense probably benign 0.43
R7538:Map3k6 UTSW 4 132,979,238 (GRCm39) missense probably benign
R7569:Map3k6 UTSW 4 132,977,388 (GRCm39) missense probably benign 0.04
R8003:Map3k6 UTSW 4 132,976,193 (GRCm39) missense probably benign 0.05
R8407:Map3k6 UTSW 4 132,974,904 (GRCm39) missense possibly damaging 0.95
R8817:Map3k6 UTSW 4 132,974,071 (GRCm39) missense probably benign 0.00
R8939:Map3k6 UTSW 4 132,979,954 (GRCm39) unclassified probably benign
R9285:Map3k6 UTSW 4 132,972,870 (GRCm39) missense probably damaging 1.00
R9308:Map3k6 UTSW 4 132,970,722 (GRCm39) missense probably damaging 1.00
R9400:Map3k6 UTSW 4 132,968,467 (GRCm39) missense probably damaging 1.00
R9401:Map3k6 UTSW 4 132,968,467 (GRCm39) missense probably damaging 1.00
R9573:Map3k6 UTSW 4 132,979,774 (GRCm39) missense probably damaging 0.99
R9677:Map3k6 UTSW 4 132,968,427 (GRCm39) missense probably benign 0.04
R9682:Map3k6 UTSW 4 132,975,419 (GRCm39) missense possibly damaging 0.61
R9745:Map3k6 UTSW 4 132,979,783 (GRCm39) missense probably damaging 1.00
R9751:Map3k6 UTSW 4 132,979,168 (GRCm39) critical splice acceptor site probably null
Z1088:Map3k6 UTSW 4 132,972,377 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCTTGACCACTTCCAAGGAC -3'
(R):5'- AAATTCTTATCCCAGCTCGACC -3'

Sequencing Primer
(F):5'- AAGGACCGTATCTACTACCTCCTG -3'
(R):5'- TTATCCCAGCTCGACCACCAG -3'
Posted On 2018-10-18