Incidental Mutation 'R0005:Map3k1'
ID 63939
Institutional Source Beutler Lab
Gene Symbol Map3k1
Ensembl Gene ENSMUSG00000021754
Gene Name mitogen-activated protein kinase kinase kinase 1
Synonyms MEKK1, Mekk
MMRRC Submission 038301-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R0005 (G1)
Quality Score 84
Status Validated
Chromosome 13
Chromosomal Location 111882962-111945527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111892238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1006 (F1006L)
Ref Sequence ENSEMBL: ENSMUSP00000104890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109267]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000109267
AA Change: F1006L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: F1006L

DomainStartEndE-ValueType
low complexity region 2 46 N/A INTRINSIC
low complexity region 85 101 N/A INTRINSIC
low complexity region 112 122 N/A INTRINSIC
low complexity region 138 158 N/A INTRINSIC
low complexity region 235 256 N/A INTRINSIC
Pfam:SWIM 333 361 3.1e-7 PFAM
low complexity region 417 426 N/A INTRINSIC
RING 438 486 2.69e-1 SMART
low complexity region 512 527 N/A INTRINSIC
low complexity region 596 625 N/A INTRINSIC
low complexity region 750 762 N/A INTRINSIC
low complexity region 967 978 N/A INTRINSIC
low complexity region 1073 1084 N/A INTRINSIC
low complexity region 1160 1178 N/A INTRINSIC
S_TKc 1224 1489 9.58e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130594
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175936
Meta Mutation Damage Score 0.0578 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency 98% (63/64)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine kinase and is part of some signal transduction cascades, including the ERK and JNK kinase pathways as well as the NF-kappa-B pathway. The encoded protein is activated by autophosphorylation and requires magnesium as a cofactor in phosphorylating other proteins. This protein has E3 ligase activity conferred by a plant homeodomain (PHD) in its N-terminus and phospho-kinase activity conferred by a kinase domain in its C-terminus. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a spontaneous allele are born with one or both eyes open, defects in eye morphology, and defects in ear morphology and function. Mice homozygous for a knock-out allele are born with open eyes and exhibit increased response to aortic banding and blood vessel healing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l A G 7: 126,097,446 (GRCm39) F201L probably damaging Het
Camsap3 T A 8: 3,654,288 (GRCm39) F653I probably damaging Het
Cemip2 A G 19: 21,789,584 (GRCm39) T595A probably damaging Het
Col11a2 C T 17: 34,281,853 (GRCm39) probably benign Het
Col27a1 A G 4: 63,143,637 (GRCm39) T442A probably benign Het
Cpsf1 A G 15: 76,484,880 (GRCm39) probably null Het
Enpp4 T C 17: 44,413,066 (GRCm39) N156S probably benign Het
Fat3 T A 9: 15,874,162 (GRCm39) N3485I probably damaging Het
Gabra2 C T 5: 71,130,779 (GRCm39) V350I probably benign Het
H2-T5 G T 17: 36,473,084 (GRCm39) probably benign Het
Hivep2 A G 10: 14,004,493 (GRCm39) T364A probably damaging Het
Kif1b A T 4: 149,266,384 (GRCm39) V402E probably damaging Het
Lamc3 A G 2: 31,812,440 (GRCm39) D959G probably benign Het
Mag T A 7: 30,607,779 (GRCm39) probably benign Het
Mapre2 G A 18: 23,986,750 (GRCm39) G54D probably damaging Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myadm C T 7: 3,346,080 (GRCm39) Q281* probably null Het
Mylk3 A T 8: 86,053,832 (GRCm39) V625D possibly damaging Het
Nlrp9a T C 7: 26,273,213 (GRCm39) probably benign Het
Or8d6 A G 9: 39,854,252 (GRCm39) D232G probably benign Het
Plcz1 T A 6: 139,986,290 (GRCm39) probably benign Het
Plekhg5 TCCCCC TCC 4: 152,197,108 (GRCm39) probably benign Het
Plekhh2 A C 17: 84,893,861 (GRCm39) D892A probably benign Het
Ppih A G 4: 119,175,798 (GRCm39) probably benign Het
Pramel13 G T 4: 144,122,423 (GRCm39) F40L probably damaging Het
Rtn4ip1 A T 10: 43,808,474 (GRCm39) M84L probably benign Het
Slc35f4 G A 14: 49,559,943 (GRCm39) probably benign Het
Spocd1 G T 4: 129,850,571 (GRCm39) D866Y possibly damaging Het
Stxbp4 C T 11: 90,439,743 (GRCm39) R365Q possibly damaging Het
Tmed4 C T 11: 6,221,781 (GRCm39) R185H probably damaging Het
Tnfsf9 T C 17: 57,414,236 (GRCm39) V221A possibly damaging Het
Trappc14 T C 5: 138,260,916 (GRCm39) probably null Het
Vsx2 C A 12: 84,617,015 (GRCm39) P100Q possibly damaging Het
Wdr48 T A 9: 119,738,500 (GRCm39) D53E probably benign Het
Zfp335 T A 2: 164,751,222 (GRCm39) S115C possibly damaging Het
Zfp608 G A 18: 55,028,592 (GRCm39) P1274S possibly damaging Het
Other mutations in Map3k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01594:Map3k1 APN 13 111,894,723 (GRCm39) critical splice acceptor site probably null
IGL01686:Map3k1 APN 13 111,891,196 (GRCm39) missense possibly damaging 0.51
IGL02104:Map3k1 APN 13 111,892,777 (GRCm39) missense probably damaging 0.99
IGL03071:Map3k1 APN 13 111,892,059 (GRCm39) missense possibly damaging 0.77
IGL03087:Map3k1 APN 13 111,885,559 (GRCm39) missense probably benign 0.01
IGL03213:Map3k1 APN 13 111,885,426 (GRCm39) utr 3 prime probably benign
Nepal UTSW 13 111,888,983 (GRCm39) missense probably benign 0.07
Snow_leopard UTSW 13 111,892,298 (GRCm39) nonsense probably null
R0025:Map3k1 UTSW 13 111,892,663 (GRCm39) missense probably benign
R0506:Map3k1 UTSW 13 111,892,298 (GRCm39) nonsense probably null
R0540:Map3k1 UTSW 13 111,900,044 (GRCm39) missense probably benign 0.05
R0607:Map3k1 UTSW 13 111,900,044 (GRCm39) missense probably benign 0.05
R0898:Map3k1 UTSW 13 111,904,490 (GRCm39) unclassified probably benign
R1171:Map3k1 UTSW 13 111,892,177 (GRCm39) missense probably benign 0.29
R1464:Map3k1 UTSW 13 111,892,405 (GRCm39) missense possibly damaging 0.67
R1464:Map3k1 UTSW 13 111,892,405 (GRCm39) missense possibly damaging 0.67
R1682:Map3k1 UTSW 13 111,893,684 (GRCm39) missense probably damaging 1.00
R1718:Map3k1 UTSW 13 111,891,953 (GRCm39) missense probably benign 0.23
R1893:Map3k1 UTSW 13 111,904,567 (GRCm39) missense possibly damaging 0.91
R2174:Map3k1 UTSW 13 111,889,016 (GRCm39) missense possibly damaging 0.75
R2215:Map3k1 UTSW 13 111,892,322 (GRCm39) missense probably benign 0.00
R2239:Map3k1 UTSW 13 111,885,478 (GRCm39) missense probably benign 0.00
R3686:Map3k1 UTSW 13 111,890,425 (GRCm39) missense probably damaging 0.99
R3783:Map3k1 UTSW 13 111,892,754 (GRCm39) missense probably benign 0.00
R4094:Map3k1 UTSW 13 111,892,696 (GRCm39) missense possibly damaging 0.48
R4231:Map3k1 UTSW 13 111,905,028 (GRCm39) missense probably benign 0.01
R4902:Map3k1 UTSW 13 111,909,146 (GRCm39) missense probably damaging 0.99
R4967:Map3k1 UTSW 13 111,909,272 (GRCm39) missense probably damaging 0.96
R5465:Map3k1 UTSW 13 111,892,654 (GRCm39) missense probably benign 0.20
R5855:Map3k1 UTSW 13 111,892,513 (GRCm39) missense probably benign 0.37
R6384:Map3k1 UTSW 13 111,887,064 (GRCm39) missense probably damaging 1.00
R6389:Map3k1 UTSW 13 111,905,975 (GRCm39) missense probably damaging 1.00
R6400:Map3k1 UTSW 13 111,892,259 (GRCm39) missense probably damaging 0.99
R6509:Map3k1 UTSW 13 111,890,363 (GRCm39) missense possibly damaging 0.48
R6644:Map3k1 UTSW 13 111,888,983 (GRCm39) missense probably benign 0.07
R6900:Map3k1 UTSW 13 111,890,350 (GRCm39) missense probably benign 0.01
R6943:Map3k1 UTSW 13 111,909,246 (GRCm39) missense probably benign 0.30
R6946:Map3k1 UTSW 13 111,905,035 (GRCm39) nonsense probably null
R7059:Map3k1 UTSW 13 111,909,312 (GRCm39) missense probably benign
R7271:Map3k1 UTSW 13 111,893,231 (GRCm39) missense probably benign 0.32
R7290:Map3k1 UTSW 13 111,904,645 (GRCm39) missense probably damaging 1.00
R7397:Map3k1 UTSW 13 111,891,742 (GRCm39) missense probably damaging 0.98
R7457:Map3k1 UTSW 13 111,892,789 (GRCm39) missense probably damaging 0.99
R7827:Map3k1 UTSW 13 111,892,663 (GRCm39) missense probably benign
R7990:Map3k1 UTSW 13 111,892,696 (GRCm39) missense probably benign 0.28
R8110:Map3k1 UTSW 13 111,891,847 (GRCm39) missense probably damaging 0.98
R8119:Map3k1 UTSW 13 111,909,156 (GRCm39) missense possibly damaging 0.89
R8179:Map3k1 UTSW 13 111,885,581 (GRCm39) missense probably damaging 1.00
R8317:Map3k1 UTSW 13 111,894,696 (GRCm39) missense probably damaging 1.00
R8397:Map3k1 UTSW 13 111,892,138 (GRCm39) missense probably damaging 0.99
R8745:Map3k1 UTSW 13 111,893,306 (GRCm39) missense probably damaging 1.00
R8829:Map3k1 UTSW 13 111,889,015 (GRCm39) missense possibly damaging 0.88
R8832:Map3k1 UTSW 13 111,889,015 (GRCm39) missense possibly damaging 0.88
R8939:Map3k1 UTSW 13 111,892,837 (GRCm39) nonsense probably null
R9640:Map3k1 UTSW 13 111,900,699 (GRCm39) nonsense probably null
R9649:Map3k1 UTSW 13 111,885,478 (GRCm39) missense probably damaging 0.97
R9653:Map3k1 UTSW 13 111,890,296 (GRCm39) missense possibly damaging 0.94
R9763:Map3k1 UTSW 13 111,912,499 (GRCm39) missense probably damaging 1.00
R9768:Map3k1 UTSW 13 111,904,630 (GRCm39) missense probably benign 0.04
X0065:Map3k1 UTSW 13 111,893,639 (GRCm39) missense probably damaging 1.00
Z1177:Map3k1 UTSW 13 111,892,480 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGCCCAGATCAAGTGTCATGCTAC -3'
(R):5'- ACTAAGTGCTACGAGACTGAGTGCC -3'

Sequencing Primer
(F):5'- CAGATCAAGTGTCATGCTACTTTTTG -3'
(R):5'- CTCGGAGGACATTTCTGACAGAC -3'
Posted On 2013-07-30