Incidental Mutation 'IGL03124:Map2k4'
ID 410091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map2k4
Ensembl Gene ENSMUSG00000033352
Gene Name mitogen-activated protein kinase kinase 4
Synonyms Serk1, Sek1, JNKK1, MKK4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03124
Quality Score
Status
Chromosome 11
Chromosomal Location 65579069-65679123 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 65581617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 365 (I365S)
Ref Sequence ENSEMBL: ENSMUSP00000041282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046963] [ENSMUST00000125598]
AlphaFold P47809
Predicted Effect probably damaging
Transcript: ENSMUST00000046963
AA Change: I365S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000041282
Gene: ENSMUSG00000033352
AA Change: I365S

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
S_TKc 100 365 9.38e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125598
SMART Domains Protein: ENSMUSP00000137656
Gene: ENSMUSG00000033352

DomainStartEndE-ValueType
Pfam:Pkinase 34 128 8.4e-27 PFAM
Pfam:Kinase-like 36 128 8.9e-8 PFAM
Pfam:Pkinase_Tyr 37 129 6.3e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140740
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormal liver development with a deficiency of parenchymal hepatocytes, severe anemia, and lethality before embryonic day 14.0. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik C A 8: 122,268,449 (GRCm39) probably benign Het
4931414P19Rik A G 14: 54,832,596 (GRCm39) V193A probably benign Het
Acap3 T C 4: 155,989,490 (GRCm39) S645P probably benign Het
Alms1 A G 6: 85,655,401 (GRCm39) I3316V probably benign Het
Apc T G 18: 34,433,038 (GRCm39) H424Q probably damaging Het
Camsap2 A T 1: 136,202,537 (GRCm39) probably null Het
Car13 C T 3: 14,722,000 (GRCm39) P182L possibly damaging Het
Ccdc87 T G 19: 4,891,082 (GRCm39) S525A probably damaging Het
Ces1f T C 8: 94,002,012 (GRCm39) N39D probably benign Het
Cyp2j13 C A 4: 95,950,159 (GRCm39) A281S possibly damaging Het
Cyp4f15 G A 17: 32,904,786 (GRCm39) probably null Het
Fat4 C A 3: 39,035,701 (GRCm39) R3118S possibly damaging Het
Glg1 C T 8: 111,926,803 (GRCm39) V171M probably damaging Het
Hivep1 G T 13: 42,312,380 (GRCm39) G1540V possibly damaging Het
Ighm T C 12: 113,385,258 (GRCm39) D234G unknown Het
Igsf10 T C 3: 59,227,086 (GRCm39) T2196A probably benign Het
Kctd19 T A 8: 106,113,702 (GRCm39) Q657L possibly damaging Het
Klhl40 T A 9: 121,609,751 (GRCm39) I512N probably damaging Het
Lima1 A T 15: 99,694,615 (GRCm39) probably benign Het
Mast4 T A 13: 102,874,753 (GRCm39) K1346N probably damaging Het
Met T A 6: 17,492,077 (GRCm39) F280I probably benign Het
Ncapg A G 5: 45,828,551 (GRCm39) T101A probably benign Het
Nup214 T C 2: 31,886,452 (GRCm39) F605L probably benign Het
Odr4 A G 1: 150,262,176 (GRCm39) V88A probably benign Het
Or51k1 G T 7: 103,661,001 (GRCm39) Q303K probably benign Het
Or5ae2 T A 7: 84,505,931 (GRCm39) M118K probably damaging Het
Or7e177 T A 9: 20,212,459 (GRCm39) M322K probably benign Het
Pck2 C T 14: 55,782,790 (GRCm39) T373I probably damaging Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pecr A C 1: 72,316,499 (GRCm39) S69A probably benign Het
Pgap6 G A 17: 26,335,808 (GRCm39) R65Q probably damaging Het
Pitpnb A G 5: 111,478,696 (GRCm39) E6G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plbd2 A T 5: 120,631,142 (GRCm39) F212I possibly damaging Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scp2 T A 4: 107,921,103 (GRCm39) I36F probably damaging Het
Slc9a4 A G 1: 40,619,895 (GRCm39) T74A probably damaging Het
Spmip6 T C 4: 41,507,287 (GRCm39) N170D possibly damaging Het
St6galnac1 G A 11: 116,666,125 (GRCm39) A35V probably benign Het
Tasor2 A T 13: 3,624,704 (GRCm39) Y1749N probably benign Het
Trav17 T C 14: 54,044,106 (GRCm39) V4A probably benign Het
Vmn1r57 A T 7: 5,224,021 (GRCm39) H182L possibly damaging Het
Vwa8 A T 14: 79,296,255 (GRCm39) probably benign Het
Zgpat A G 2: 181,007,973 (GRCm39) Y170C probably benign Het
Other mutations in Map2k4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Map2k4 APN 11 65,610,305 (GRCm39) splice site probably benign
IGL01318:Map2k4 APN 11 65,647,089 (GRCm39) splice site probably benign
IGL02500:Map2k4 APN 11 65,587,136 (GRCm39) missense probably damaging 1.00
IGL02628:Map2k4 APN 11 65,581,567 (GRCm39) missense possibly damaging 0.83
IGL02873:Map2k4 APN 11 65,610,400 (GRCm39) missense probably damaging 0.97
R0021:Map2k4 UTSW 11 65,603,110 (GRCm39) missense probably damaging 1.00
R0021:Map2k4 UTSW 11 65,603,110 (GRCm39) missense probably damaging 1.00
R0034:Map2k4 UTSW 11 65,610,437 (GRCm39) splice site probably benign
R0034:Map2k4 UTSW 11 65,610,437 (GRCm39) splice site probably benign
R0646:Map2k4 UTSW 11 65,603,101 (GRCm39) missense probably damaging 1.00
R2073:Map2k4 UTSW 11 65,584,282 (GRCm39) missense probably damaging 0.99
R2931:Map2k4 UTSW 11 65,647,163 (GRCm39) missense probably damaging 0.99
R3800:Map2k4 UTSW 11 65,581,607 (GRCm39) nonsense probably null
R4820:Map2k4 UTSW 11 65,587,201 (GRCm39) splice site probably benign
R4913:Map2k4 UTSW 11 65,600,758 (GRCm39) missense probably damaging 1.00
R5452:Map2k4 UTSW 11 65,610,413 (GRCm39) missense probably damaging 0.97
R5497:Map2k4 UTSW 11 65,626,031 (GRCm39) missense probably damaging 1.00
R5812:Map2k4 UTSW 11 65,626,031 (GRCm39) missense probably damaging 1.00
R5976:Map2k4 UTSW 11 65,600,778 (GRCm39) missense probably benign 0.31
R6282:Map2k4 UTSW 11 65,597,842 (GRCm39) missense possibly damaging 0.78
R6505:Map2k4 UTSW 11 65,584,355 (GRCm39) missense possibly damaging 0.63
R6784:Map2k4 UTSW 11 65,582,577 (GRCm39) unclassified probably benign
R7560:Map2k4 UTSW 11 65,666,583 (GRCm39) missense unknown
R8071:Map2k4 UTSW 11 65,597,827 (GRCm39) missense
R9092:Map2k4 UTSW 11 65,581,599 (GRCm39) missense probably benign
R9342:Map2k4 UTSW 11 65,581,569 (GRCm39) missense probably benign
Posted On 2016-08-02