Incidental Mutation 'R3690:Map3k15'
ID 269756
Institutional Source Beutler Lab
Gene Symbol Map3k15
Ensembl Gene ENSMUSG00000031303
Gene Name mitogen-activated protein kinase kinase kinase 15
Synonyms
MMRRC Submission 040685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R3690 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 158771429-158906347 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 158905568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1295 (N1295K)
Ref Sequence ENSEMBL: ENSMUSP00000033665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033662] [ENSMUST00000033665]
AlphaFold A2AQW0
Predicted Effect probably benign
Transcript: ENSMUST00000033662
SMART Domains Protein: ENSMUSP00000033662
Gene: ENSMUSG00000031299

DomainStartEndE-ValueType
Pfam:E1_dh 66 362 3.8e-127 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000033665
AA Change: N1295K

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033665
Gene: ENSMUSG00000031303
AA Change: N1295K

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
low complexity region 49 66 N/A INTRINSIC
low complexity region 76 87 N/A INTRINSIC
Pfam:DUF4071 140 519 1.3e-165 PFAM
S_TKc 656 912 1.1e-89 SMART
low complexity region 940 962 N/A INTRINSIC
low complexity region 1038 1052 N/A INTRINSIC
low complexity region 1302 1315 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156531
Meta Mutation Damage Score 0.0982 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (54/55)
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 member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [provided by RefSeq, Jul 2010]
PHENOTYPE: Male mice hemizygous for a knock-out allele exhibit hyperactivation of the SPAK/OSR1 and Na+Cl- cotransporter (NCC) pathway in the renal tubules and develop mild hypertension. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,091,328 (GRCm39) Y629F probably benign Het
Abcb5 T A 12: 118,836,668 (GRCm39) D1081V probably damaging Het
Afdn A G 17: 14,108,671 (GRCm39) E1398G probably damaging Het
Atp8b5 T C 4: 43,368,055 (GRCm39) C893R probably damaging Het
Avl9 C T 6: 56,713,812 (GRCm39) H357Y probably benign Het
Bclaf1 C T 10: 20,201,143 (GRCm39) T423I possibly damaging Het
Btbd19 A T 4: 116,977,789 (GRCm39) probably benign Het
Cap1 A G 4: 122,758,419 (GRCm39) S254P probably damaging Het
Cdc42ep1 T C 15: 78,731,629 (GRCm39) S25P probably benign Het
Cln6 T C 9: 62,754,252 (GRCm39) I98T possibly damaging Het
Cul9 T C 17: 46,814,957 (GRCm39) probably null Het
Dcx T C X: 142,660,240 (GRCm39) E268G possibly damaging Het
Ddias G A 7: 92,509,366 (GRCm39) P183L probably benign Het
Dnase2b A T 3: 146,299,326 (GRCm39) Y42* probably null Het
Dusp16 C T 6: 134,738,082 (GRCm39) probably benign Het
Egfr T C 11: 16,821,881 (GRCm39) probably benign Het
Fam171a1 T C 2: 3,227,393 (GRCm39) V842A probably benign Het
Folr1 T C 7: 101,507,745 (GRCm39) S232G probably benign Het
Foxj3 T C 4: 119,473,839 (GRCm39) probably benign Het
Fpr-rs6 T C 17: 20,403,137 (GRCm39) M75V probably benign Het
Fxyd5 G T 7: 30,735,864 (GRCm39) L128M possibly damaging Het
Gigyf2 T C 1: 87,349,238 (GRCm39) S500P possibly damaging Het
Inppl1 A G 7: 101,481,275 (GRCm39) L268P probably damaging Het
Klk1b24 A T 7: 43,841,243 (GRCm39) H192L probably benign Het
Llgl1 T G 11: 60,597,828 (GRCm39) Y316D probably damaging Het
Lmbrd1 T A 1: 24,801,374 (GRCm39) *143R probably null Het
Mcm3ap A G 10: 76,318,513 (GRCm39) E678G probably damaging Het
Mrpl44 T A 1: 79,757,366 (GRCm39) Y270* probably null Het
Nav1 T A 1: 135,395,382 (GRCm39) I996L probably benign Het
Neb T C 2: 52,027,397 (GRCm39) E6868G probably damaging Het
Nexmif A T X: 103,131,213 (GRCm39) Y235N probably damaging Het
Nup50 C T 15: 84,823,994 (GRCm39) T449M probably damaging Het
Or14a256 G A 7: 86,265,686 (GRCm39) P56S probably damaging Het
Or2b6 A G 13: 21,823,508 (GRCm39) F62L probably damaging Het
Or51aa2 T C 7: 103,188,274 (GRCm39) T56A probably benign Het
Or52e8b A G 7: 104,673,902 (GRCm39) L95P probably damaging Het
Or52n2 T C 7: 104,542,724 (GRCm39) Y37C possibly damaging Het
Pald1 A T 10: 61,191,587 (GRCm39) probably null Het
Pde11a T A 2: 76,121,510 (GRCm39) K357I probably damaging Het
Ric3 A G 7: 108,637,817 (GRCm39) V312A possibly damaging Het
Scaper C T 9: 55,791,205 (GRCm39) G231D probably benign Het
Smc1b T A 15: 85,001,464 (GRCm39) probably benign Het
Smcr8 A G 11: 60,668,854 (GRCm39) M1V probably null Het
Smtn T C 11: 3,477,687 (GRCm39) probably benign Het
Spatc1 A T 15: 76,152,495 (GRCm39) K42* probably null Het
Taf7l A T X: 133,365,074 (GRCm39) I449K probably damaging Het
Tex47 A G 5: 7,354,777 (GRCm39) probably benign Het
Tram2 T A 1: 21,075,824 (GRCm39) Y198F probably damaging Het
Ttn C G 2: 76,629,588 (GRCm39) W14284C probably damaging Het
Ube3a A G 7: 58,926,547 (GRCm39) K442E probably damaging Het
Vmn2r116 T A 17: 23,603,798 (GRCm39) F8I unknown Het
Vmn2r59 A G 7: 41,661,370 (GRCm39) F815S possibly damaging Het
Zap70 T C 1: 36,820,493 (GRCm39) C563R probably damaging Het
Zfp579 T C 7: 4,997,719 (GRCm39) H64R probably damaging Het
Other mutations in Map3k15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01139:Map3k15 APN X 158,855,875 (GRCm39) missense probably damaging 1.00
R3689:Map3k15 UTSW X 158,905,568 (GRCm39) missense possibly damaging 0.51
R5052:Map3k15 UTSW X 158,771,742 (GRCm39) missense possibly damaging 0.87
X0061:Map3k15 UTSW X 158,784,993 (GRCm39) missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- ATAGGTGGTACAGAGAACCCTC -3'
(R):5'- AAGAAAGGTCTATCACTTCATGCC -3'

Sequencing Primer
(F):5'- CCTGATGGACTGGGAACCGAC -3'
(R):5'- CTTGCCACCCTGAACCTGAG -3'
Posted On 2015-02-19