Incidental Mutation 'R8745:Map3k1'
ID 663515
Institutional Source Beutler Lab
Gene Symbol Map3k1
Ensembl Gene ENSMUSG00000021754
Gene Name mitogen-activated protein kinase kinase kinase 1
Synonyms MEKK1, Mekk
MMRRC Submission 068589-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R8745 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 111882962-111945527 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111893306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 733 (V733A)
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: V733A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104890
Gene: ENSMUSG00000021754
AA Change: V733A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.5%
Validation Efficiency
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A G 19: 20,611,807 (GRCm39) N377S probably benign Het
Aldh3b3 A T 19: 4,014,890 (GRCm39) Y129F possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ankrd61 G A 5: 143,828,237 (GRCm39) S246L possibly damaging Het
Ccdc187 T A 2: 26,170,526 (GRCm39) I651F probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Ceacam13 T A 7: 17,743,934 (GRCm39) S14T probably damaging Het
Cfap58 A T 19: 47,929,553 (GRCm39) K5* probably null Het
Col27a1 T C 4: 63,144,153 (GRCm39) S614P probably benign Het
Crlf3 T A 11: 79,955,100 (GRCm39) E85D probably damaging Het
Dennd2b T A 7: 109,156,279 (GRCm39) H157L probably benign Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dnah7b A G 1: 46,221,624 (GRCm39) I1243V possibly damaging Het
Dnajc22 A G 15: 98,999,345 (GRCm39) T177A probably benign Het
Dytn A T 1: 63,686,606 (GRCm39) C355S probably benign Het
Efcab3 C T 11: 104,749,304 (GRCm39) T2340M possibly damaging Het
Ehbp1 T C 11: 22,119,064 (GRCm39) N202S possibly damaging Het
Exoc3l2 T C 7: 19,215,212 (GRCm39) I491T unknown Het
Fam135a G A 1: 24,067,569 (GRCm39) T1100M probably benign Het
Fam53a A T 5: 33,767,781 (GRCm39) I43N probably damaging Het
Fis1 G T 5: 136,982,365 (GRCm39) probably benign Het
Fn1 T C 1: 71,676,528 (GRCm39) T568A probably benign Het
Gba1 A T 3: 89,115,180 (GRCm39) N404I probably damaging Het
Gsap A G 5: 21,474,949 (GRCm39) Y536C probably benign Het
Hecw2 T A 1: 53,972,330 (GRCm39) E230V probably damaging Het
Heg1 A G 16: 33,555,986 (GRCm39) Q1046R probably benign Het
Kctd14 G A 7: 97,107,445 (GRCm39) W233* probably null Het
Krt88 T C 15: 101,351,460 (GRCm39) S156P possibly damaging Het
L3mbtl1 C A 2: 162,812,137 (GRCm39) H727Q probably benign Het
Man1c1 T C 4: 134,303,295 (GRCm39) K400E probably damaging Het
Map2 A T 1: 66,452,556 (GRCm39) Q482L probably benign Het
Map4k1 G A 7: 28,686,542 (GRCm39) D155N probably damaging Het
Map4k3 G A 17: 80,944,164 (GRCm39) R328C possibly damaging Het
Marchf7 C T 2: 60,067,153 (GRCm39) Q558* probably null Het
Mepe T C 5: 104,485,525 (GRCm39) S222P possibly damaging Het
Mfap3l A T 8: 61,124,958 (GRCm39) N400I possibly damaging Het
Myom3 T C 4: 135,522,509 (GRCm39) probably null Het
Nav3 T C 10: 109,659,311 (GRCm39) T769A probably benign Het
Ndufb7 T A 8: 84,297,518 (GRCm39) Y58N probably damaging Het
Nup160 T C 2: 90,530,463 (GRCm39) F445L probably benign Het
Or1e20-ps1 C A 11: 73,324,848 (GRCm39) *68L probably null Het
Or4c126 T A 2: 89,824,076 (GRCm39) M113K probably damaging Het
Or4p23 T C 2: 88,576,408 (GRCm39) I275V possibly damaging Het
Ovch2 G A 7: 107,389,584 (GRCm39) S321F possibly damaging Het
Pamr1 T C 2: 102,441,924 (GRCm39) L171P probably damaging Het
Pcdhga5 T C 18: 37,828,974 (GRCm39) V474A possibly damaging Het
Pcgf6 A G 19: 47,039,159 (GRCm39) S34P probably benign Het
Pitrm1 C T 13: 6,603,238 (GRCm39) P96L probably damaging Het
Polr1a T C 6: 71,931,755 (GRCm39) F945L probably damaging Het
Ranbp1 A G 16: 18,065,244 (GRCm39) S21P possibly damaging Het
Rasgrp2 G T 19: 6,463,949 (GRCm39) R549L probably damaging Het
Rassf10 T A 7: 112,554,083 (GRCm39) L228Q probably damaging Het
Rho A T 6: 115,912,483 (GRCm39) I275F probably damaging Het
Rrp9 T C 9: 106,361,657 (GRCm39) V400A possibly damaging Het
Satb2 A G 1: 57,008,796 (GRCm39) L62P unknown Het
Scmh1 T A 4: 120,362,559 (GRCm39) L265* probably null Het
Scn7a A G 2: 66,510,526 (GRCm39) M1292T probably benign Het
Serpinb10 A T 1: 107,474,542 (GRCm39) T235S probably benign Het
Serpinb6c A G 13: 34,064,702 (GRCm39) V214A probably benign Het
Sf3b3 A G 8: 111,550,816 (GRCm39) I616T possibly damaging Het
Shb G C 4: 45,458,319 (GRCm39) R282G probably benign Het
Snx5 A T 2: 144,103,932 (GRCm39) S22T probably benign Het
Spata6 T C 4: 111,636,476 (GRCm39) F256L probably benign Het
Stab2 T C 10: 86,805,213 (GRCm39) H255R probably benign Het
Sva T A 6: 42,015,357 (GRCm39) M1K probably null Het
Tdpoz4 A T 3: 93,704,221 (GRCm39) T173S probably benign Het
Tex9 T C 9: 72,389,778 (GRCm39) I111V probably benign Het
Tigd4 A G 3: 84,501,874 (GRCm39) I264V probably benign Het
Tmem182 C T 1: 40,877,536 (GRCm39) A137V probably damaging Het
Tnfrsf1a A G 6: 125,338,745 (GRCm39) I385V probably damaging Het
Tnrc18 A T 5: 142,773,202 (GRCm39) F542L Het
Tpbpa G A 13: 61,087,778 (GRCm39) T86I possibly damaging Het
Trappc14 A G 5: 138,261,327 (GRCm39) probably null Het
Ubr5 G A 15: 38,025,039 (GRCm39) P573L Het
Usp54 A G 14: 20,612,176 (GRCm39) I880T probably benign Het
Vmn1r9 A G 6: 57,048,767 (GRCm39) I281V probably benign Het
Zfp456 C A 13: 67,515,373 (GRCm39) C111F 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
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
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
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'- CTGCGGGATATGTGAGCAAG -3'
(R):5'- GGAATGAATCTAAGAGAAGTCCTTG -3'

Sequencing Primer
(F):5'- GGAAGAGACAGGTTCTGATTTCTAC -3'
(R):5'- TGAGCCTTCCCGTTACAT -3'
Posted On 2021-03-08