Incidental Mutation 'IGL01607:Map4k2'
ID 92304
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map4k2
Ensembl Gene ENSMUSG00000024948
Gene Name mitogen-activated protein kinase kinase kinase kinase 2
Synonyms BL44, Rab8ip
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.311) question?
Stock # IGL01607
Quality Score
Status
Chromosome 19
Chromosomal Location 6391165-6405645 bp(+) (GRCm39)
Type of Mutation splice site (4702 bp from exon)
DNA Base Change (assembly) C to T at 6395623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000109132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025897] [ENSMUST00000056391] [ENSMUST00000078137] [ENSMUST00000079327] [ENSMUST00000113500] [ENSMUST00000113501] [ENSMUST00000130382] [ENSMUST00000124556] [ENSMUST00000113502] [ENSMUST00000113504] [ENSMUST00000142496] [ENSMUST00000152349]
AlphaFold Q61161
Predicted Effect probably benign
Transcript: ENSMUST00000025897
AA Change: P385S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000025897
Gene: ENSMUSG00000024948
AA Change: P385S

DomainStartEndE-ValueType
S_TKc 16 273 2.41e-90 SMART
low complexity region 358 369 N/A INTRINSIC
low complexity region 425 444 N/A INTRINSIC
CNH 488 801 1.31e-128 SMART
Predicted Effect probably null
Transcript: ENSMUST00000056391
SMART Domains Protein: ENSMUSP00000058149
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000078137
SMART Domains Protein: ENSMUSP00000077272
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 396 2.6e-241 PFAM
Pfam:Menin 392 556 1.5e-62 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000079327
SMART Domains Protein: ENSMUSP00000078306
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113500
SMART Domains Protein: ENSMUSP00000109128
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113501
SMART Domains Protein: ENSMUSP00000109129
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 183 2.6e-104 PFAM
Pfam:Menin 184 576 3.2e-213 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130382
AA Change: P341S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000120123
Gene: ENSMUSG00000024948
AA Change: P341S

DomainStartEndE-ValueType
S_TKc 16 233 3.4e-14 SMART
low complexity region 314 325 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126841
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133696
Predicted Effect probably benign
Transcript: ENSMUST00000124556
SMART Domains Protein: ENSMUSP00000121375
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113502
SMART Domains Protein: ENSMUSP00000109130
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 7 515 1.5e-254 PFAM
Pfam:Menin 536 615 4.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128170
SMART Domains Protein: ENSMUSP00000121856
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:CNH 2 142 3.4e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113504
SMART Domains Protein: ENSMUSP00000109132
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 1 611 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149624
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154900
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152259
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148410
Predicted Effect probably benign
Transcript: ENSMUST00000142496
SMART Domains Protein: ENSMUSP00000114243
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 56 4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170292
SMART Domains Protein: ENSMUSP00000128607
Gene: ENSMUSG00000024947

DomainStartEndE-ValueType
Pfam:Menin 4 106 1.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152349
SMART Domains Protein: ENSMUSP00000115741
Gene: ENSMUSG00000024948

DomainStartEndE-ValueType
Pfam:Pkinase 16 57 3.7e-7 PFAM
Coding Region Coverage
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 member of the serine/threonine protein kinase family. Although this kinase is found in many tissues, its expression in lymphoid follicles is restricted to the cells of germinal centre, where it may participate in B-cell differentiation. This kinase can be activated by TNF-alpha, and has been shown to specifically activate MAP kinases. This kinase is also found to interact with TNF receptor-associated factor 2 (TRAF2), which is involved in the activation of MAP3K1/MEKK1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased susceptibility to endotoxin shock. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,243,823 (GRCm39) K556E possibly damaging Het
Adgre4 A C 17: 56,101,748 (GRCm39) probably benign Het
Ajap1 C T 4: 153,516,736 (GRCm39) G202S probably damaging Het
Catsperb G T 12: 101,446,985 (GRCm39) probably benign Het
Ccdc178 T A 18: 22,200,778 (GRCm39) D393V probably benign Het
Cfap74 A G 4: 155,503,443 (GRCm39) T95A possibly damaging Het
Dis3l2 A G 1: 86,673,209 (GRCm39) T67A probably benign Het
Dnaja3 T C 16: 4,511,259 (GRCm39) F205L probably damaging Het
Dsc1 C T 18: 20,222,720 (GRCm39) C584Y probably damaging Het
Duox2 C A 2: 122,122,800 (GRCm39) V545L probably benign Het
Etaa1 A G 11: 17,903,637 (GRCm39) L53P probably benign Het
Gm14184 C T 11: 99,590,490 (GRCm39) C4Y unknown Het
Inpp4b C T 8: 82,737,292 (GRCm39) A563V probably benign Het
Kcnc3 A G 7: 44,240,728 (GRCm39) D140G probably damaging Het
Ly6a A T 15: 74,867,262 (GRCm39) M85K probably benign Het
Mttp T C 3: 137,810,459 (GRCm39) Y652C probably damaging Het
Neu1 A T 17: 35,153,692 (GRCm39) N372I probably benign Het
Nuak2 G A 1: 132,255,878 (GRCm39) V184I probably damaging Het
Phf11a T C 14: 59,524,950 (GRCm39) I85V probably damaging Het
Polr2e C A 10: 79,875,467 (GRCm39) D3Y probably damaging Het
Ralb A G 1: 119,411,279 (GRCm39) V20A probably damaging Het
Rln1 A T 19: 29,309,260 (GRCm39) V173D probably benign Het
Stk38l T A 6: 146,673,152 (GRCm39) C304S probably damaging Het
Stk38l T C 6: 146,673,725 (GRCm39) probably benign Het
Tjp1 G T 7: 64,985,926 (GRCm39) D288E possibly damaging Het
Trpm3 A G 19: 22,964,491 (GRCm39) I1319V probably benign Het
Zic2 T G 14: 122,716,294 (GRCm39) probably benign Het
Other mutations in Map4k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02041:Map4k2 APN 19 6,401,348 (GRCm39) missense probably benign 0.45
IGL03372:Map4k2 APN 19 6,392,279 (GRCm39) unclassified probably benign
IGL03380:Map4k2 APN 19 6,394,620 (GRCm39) missense possibly damaging 0.83
R0968:Map4k2 UTSW 19 6,395,487 (GRCm39) missense probably damaging 0.98
R1466:Map4k2 UTSW 19 6,391,947 (GRCm39) missense probably damaging 1.00
R1466:Map4k2 UTSW 19 6,391,947 (GRCm39) missense probably damaging 1.00
R1612:Map4k2 UTSW 19 6,393,371 (GRCm39) missense probably damaging 1.00
R2069:Map4k2 UTSW 19 6,392,768 (GRCm39) unclassified probably benign
R2370:Map4k2 UTSW 19 6,391,958 (GRCm39) nonsense probably null
R3080:Map4k2 UTSW 19 6,403,218 (GRCm39) missense probably damaging 0.99
R3825:Map4k2 UTSW 19 6,394,081 (GRCm39) missense probably benign 0.29
R3896:Map4k2 UTSW 19 6,391,958 (GRCm39) nonsense probably null
R4088:Map4k2 UTSW 19 6,403,186 (GRCm39) missense probably damaging 0.99
R4817:Map4k2 UTSW 19 6,394,459 (GRCm39) missense probably damaging 0.97
R4888:Map4k2 UTSW 19 6,394,033 (GRCm39) missense probably benign 0.07
R5226:Map4k2 UTSW 19 6,396,534 (GRCm39) unclassified probably benign
R5544:Map4k2 UTSW 19 6,395,944 (GRCm39) critical splice acceptor site probably null
R5687:Map4k2 UTSW 19 6,395,672 (GRCm39) unclassified probably benign
R5688:Map4k2 UTSW 19 6,396,836 (GRCm39) missense probably damaging 1.00
R5726:Map4k2 UTSW 19 6,401,362 (GRCm39) missense probably damaging 0.99
R5750:Map4k2 UTSW 19 6,401,367 (GRCm39) missense probably benign 0.15
R5908:Map4k2 UTSW 19 6,401,346 (GRCm39) splice site probably benign
R6402:Map4k2 UTSW 19 6,394,111 (GRCm39) critical splice donor site probably null
R6843:Map4k2 UTSW 19 6,403,477 (GRCm39) missense probably damaging 0.98
R6942:Map4k2 UTSW 19 6,396,739 (GRCm39) missense possibly damaging 0.95
R7227:Map4k2 UTSW 19 6,396,624 (GRCm39) missense probably damaging 1.00
R7573:Map4k2 UTSW 19 6,394,094 (GRCm39) missense probably benign
R7632:Map4k2 UTSW 19 6,394,084 (GRCm39) missense probably benign
R7893:Map4k2 UTSW 19 6,403,541 (GRCm39) missense probably damaging 0.98
R8257:Map4k2 UTSW 19 6,396,030 (GRCm39) missense probably benign 0.00
R8331:Map4k2 UTSW 19 6,402,853 (GRCm39) missense probably damaging 1.00
R8343:Map4k2 UTSW 19 6,396,596 (GRCm39) missense probably damaging 1.00
R8795:Map4k2 UTSW 19 6,401,640 (GRCm39) missense probably damaging 1.00
R9351:Map4k2 UTSW 19 6,401,223 (GRCm39) missense probably benign 0.01
R9414:Map4k2 UTSW 19 6,394,515 (GRCm39) missense probably benign 0.00
R9442:Map4k2 UTSW 19 6,392,814 (GRCm39) missense probably damaging 1.00
X0010:Map4k2 UTSW 19 6,403,348 (GRCm39) missense probably benign 0.01
Posted On 2013-12-09