Incidental Mutation 'R6389:Map3k1'
ID 515710
Institutional Source Beutler Lab
Gene Symbol Map3k1
Ensembl Gene ENSMUSG00000021754
Gene Name mitogen-activated protein kinase kinase kinase 1
Synonyms MEKK1, Mekk
MMRRC Submission 044538-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R6389 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 111882962-111945527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111905975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 289 (D289G)
Ref Sequence ENSEMBL: ENSMUSP00000104890 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109267] [ENSMUST00000145055]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000109267
AA Change: D289G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: D289G

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: ENSMUST00000133364
Predicted Effect probably damaging
Transcript: ENSMUST00000145055
AA Change: D131G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000117863
Gene: ENSMUSG00000021754
AA Change: D131G

DomainStartEndE-ValueType
low complexity region 77 98 N/A INTRINSIC
Pfam:SWIM 175 203 2.2e-8 PFAM
low complexity region 259 264 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.9%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,254 (GRCm39) L326R possibly damaging Het
Abcb11 A T 2: 69,154,238 (GRCm39) N109K probably damaging Het
Actn1 T A 12: 80,221,296 (GRCm39) M586L probably benign Het
Ago4 T A 4: 126,401,037 (GRCm39) I603F probably damaging Het
Bicc1 A T 10: 70,794,752 (GRCm39) V135D probably damaging Het
Bms1 T C 6: 118,380,196 (GRCm39) N704D possibly damaging Het
Cadm4 A C 7: 24,198,959 (GRCm39) Q78P probably benign Het
Cfap74 T C 4: 155,507,793 (GRCm39) I248T possibly damaging Het
Clu G C 14: 66,208,771 (GRCm39) probably benign Het
Cnnm3 T C 1: 36,559,603 (GRCm39) V514A probably damaging Het
Cntd1 A T 11: 101,176,577 (GRCm39) I225F probably damaging Het
Col20a1 T C 2: 180,634,376 (GRCm39) probably null Het
Ctnnal1 A G 4: 56,813,849 (GRCm39) V640A probably benign Het
Cul4a A G 8: 13,190,278 (GRCm39) T572A probably benign Het
D16Ertd472e A G 16: 78,342,071 (GRCm39) S270P probably damaging Het
Dmp1 A T 5: 104,360,788 (GRCm39) N488I probably damaging Het
Dnah14 G A 1: 181,478,767 (GRCm39) probably null Het
Dst T C 1: 34,232,265 (GRCm39) L3464P probably damaging Het
Fnbp4 C T 2: 90,575,879 (GRCm39) P27S unknown Het
Fpr-rs3 A T 17: 20,844,230 (GRCm39) F304I probably damaging Het
Gm13941 T C 2: 110,928,734 (GRCm39) Q108R unknown Het
Hcn3 C T 3: 89,058,240 (GRCm39) A339T possibly damaging Het
Inpp5f A G 7: 128,279,780 (GRCm39) D460G probably damaging Het
Ism2 T C 12: 87,329,145 (GRCm39) E253G possibly damaging Het
Klrg1 T C 6: 122,248,431 (GRCm39) N156S probably damaging Het
Ksr2 A G 5: 117,552,907 (GRCm39) N5S probably benign Het
Lrrc7 T G 3: 157,891,063 (GRCm39) E368A probably damaging Het
Ly9 G C 1: 171,424,105 (GRCm39) S482C probably damaging Het
Mcub T C 3: 129,712,357 (GRCm39) T173A probably benign Het
Mup16 T C 4: 61,437,177 (GRCm39) E48G probably damaging Het
Naf1 C T 8: 67,313,680 (GRCm39) S24L possibly damaging Het
Ncoa6 A G 2: 155,237,736 (GRCm39) S2024P probably damaging Het
Nop56 C A 2: 130,119,807 (GRCm39) Q83K probably damaging Het
Nt5e T C 9: 88,245,524 (GRCm39) Y265H probably damaging Het
Odad1 G T 7: 45,597,940 (GRCm39) V617F probably benign Het
Or4a27 A G 2: 88,559,016 (GRCm39) V309A probably benign Het
Or52p2 A T 7: 102,237,679 (GRCm39) N90K probably benign Het
Or5w8 C T 2: 87,688,367 (GRCm39) P283S probably damaging Het
Oxct2a T A 4: 123,217,220 (GRCm39) K54* probably null Het
Oxct2b G T 4: 123,010,367 (GRCm39) D96Y probably benign Het
Pisd A G 5: 32,922,191 (GRCm39) Y250H probably damaging Het
Plekhm1 G T 11: 103,257,720 (GRCm39) N1071K probably benign Het
Prr11 G A 11: 86,989,564 (GRCm39) T269I possibly damaging Het
Ptpn4 T A 1: 119,649,684 (GRCm39) H304L probably damaging Het
Rrp1b A G 17: 32,275,601 (GRCm39) K383E possibly damaging Het
Sel1l2 C A 2: 140,087,274 (GRCm39) A466S probably damaging Het
Slc9a4 A G 1: 40,619,844 (GRCm39) I57V probably benign Het
Spag9 A G 11: 93,977,137 (GRCm39) E81G probably damaging Het
Tbr1 A G 2: 61,636,631 (GRCm39) probably benign Het
Tnrc6c A G 11: 117,613,567 (GRCm39) D735G probably damaging Het
Tspan17 A T 13: 54,943,429 (GRCm39) probably null Het
Tyw5 T C 1: 57,430,658 (GRCm39) K175R probably damaging Het
Ube2o A C 11: 116,439,684 (GRCm39) I162R probably null Het
Ubr1 G T 2: 120,711,520 (GRCm39) T1458K probably benign Het
Vmn2r16 A T 5: 109,478,344 (GRCm39) Q33L probably benign Het
Zfp1007 G A 5: 109,823,885 (GRCm39) P522S possibly damaging Het
Zfp799 A G 17: 33,039,552 (GRCm39) L238P probably 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
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
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'- AACCATTTCCTAGTACGCAGGC -3'
(R):5'- AAAATGAGTTGTGTCAGGTTTCAGC -3'

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