Incidental Mutation 'R6400:Map3k1'
ID 516139
Institutional Source Beutler Lab
Gene Symbol Map3k1
Ensembl Gene ENSMUSG00000021754
Gene Name mitogen-activated protein kinase kinase kinase 1
Synonyms MEKK1, Mekk
MMRRC Submission 044547-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R6400 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 111882962-111945527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 111892259 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 999 (S999T)
Ref Sequence ENSEMBL: ENSMUSP00000104890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109267]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000109267
AA Change: S999T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: S999T

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 0.1249 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.2%
Validation Efficiency 100% (32/32)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,638,435 (GRCm39) *160Q probably null Het
Aen G A 7: 78,557,142 (GRCm39) G330E probably benign Het
Akap8l G A 17: 32,555,294 (GRCm39) R262C probably damaging Het
Cbx8 G A 11: 118,929,694 (GRCm39) Q300* probably null Het
Cd274 C T 19: 29,362,808 (GRCm39) T290M probably damaging Het
Cd36 A C 5: 18,019,721 (GRCm39) S127A probably damaging Het
Celf3 A G 3: 94,387,593 (GRCm39) Y55C probably damaging Het
Clec1a A T 6: 129,412,316 (GRCm39) probably null Het
Cog2 A T 8: 125,277,045 (GRCm39) I684F probably damaging Het
Cyp2c65 C T 19: 39,049,558 (GRCm39) L29F possibly damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Dytn A T 1: 63,680,335 (GRCm39) L408* probably null Het
Flg A G 3: 93,187,228 (GRCm39) T227A probably benign Het
Heatr4 T A 12: 84,001,784 (GRCm39) K887M probably null Het
Hoxb1 C T 11: 96,256,818 (GRCm39) Q56* probably null Het
Kcnh7 T A 2: 62,569,688 (GRCm39) N736I probably damaging Het
Lgr4 T C 2: 109,821,478 (GRCm39) V120A probably damaging Het
Ltbp1 A G 17: 75,458,397 (GRCm39) Y326C possibly damaging Het
Med12l T C 3: 59,155,332 (GRCm39) F1171L probably damaging Het
Muc5b T C 7: 141,412,402 (GRCm39) S1783P unknown Het
Nbr1 T C 11: 101,456,600 (GRCm39) L159P probably damaging Het
Nme9 T C 9: 99,351,760 (GRCm39) F248S possibly damaging Het
Or4x11 C T 2: 89,867,739 (GRCm39) L159F probably benign Het
Or6k2 T C 1: 173,986,830 (GRCm39) S164P probably damaging Het
Rasgrf1 C T 9: 89,873,683 (GRCm39) T664I probably damaging Het
Setx A G 2: 29,020,286 (GRCm39) D91G probably damaging Het
Stim1 A G 7: 102,080,157 (GRCm39) R514G probably null Het
Svep1 C A 4: 58,049,169 (GRCm39) G3446V probably damaging Het
Tcte2 T A 17: 13,942,714 (GRCm39) probably benign Het
Trmt10b A G 4: 45,308,562 (GRCm39) K239E probably damaging Het
Wdr70 A T 15: 8,072,322 (GRCm39) S189T probably benign 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
R0005:Map3k1 UTSW 13 111,892,238 (GRCm39) missense probably benign 0.00
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
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'- AAAGCTGTCGTCACACCTG -3'
(R):5'- CAGCGGTTCAAACAAAAGGC -3'

Sequencing Primer
(F):5'- TGCCCAGATCAAGTGTCATG -3'
(R):5'- GGTTCAAACAAAAGGCAGACC -3'
Posted On 2018-05-04