Incidental Mutation 'IGL02444:Map3k13'
ID 293499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k13
Ensembl Gene ENSMUSG00000033618
Gene Name mitogen-activated protein kinase kinase kinase 13
Synonyms C130026N12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02444
Quality Score
Status
Chromosome 16
Chromosomal Location 21643923-21752189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21732982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 528 (M528K)
Ref Sequence ENSEMBL: ENSMUSP00000156202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042065] [ENSMUST00000231988] [ENSMUST00000232240]
AlphaFold Q1HKZ5
Predicted Effect probably benign
Transcript: ENSMUST00000042065
AA Change: M528K

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: M528K

DomainStartEndE-ValueType
low complexity region 7 18 N/A INTRINSIC
low complexity region 119 137 N/A INTRINSIC
Pfam:Pkinase 167 406 3.1e-60 PFAM
Pfam:Pkinase_Tyr 167 406 2.4e-65 PFAM
coiled coil region 456 502 N/A INTRINSIC
low complexity region 578 599 N/A INTRINSIC
low complexity region 632 649 N/A INTRINSIC
low complexity region 805 821 N/A INTRINSIC
low complexity region 833 843 N/A INTRINSIC
low complexity region 932 945 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231988
AA Change: M528K

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000232240
AA Change: M528K

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
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 serine/threonine protein kinase family. This kinase contains a dual leucine-zipper motif, and has been shown to form dimers/oligomers through its leucine-zipper motif. This kinase can phosphorylate and activate MAPK8/JNK, MAP2K7/MKK7, which suggests a role in the JNK signaling pathway. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 44,022,710 (GRCm39) I260T possibly damaging Het
Arhgap9 T A 10: 127,163,816 (GRCm39) V484D probably damaging Het
Asph A G 4: 9,542,319 (GRCm39) probably benign Het
Bbs9 T C 9: 22,555,083 (GRCm39) S457P probably damaging Het
Bckdk A G 7: 127,506,618 (GRCm39) T38A probably damaging Het
Cast G A 13: 74,887,972 (GRCm39) T240I probably damaging Het
Cdc27 T C 11: 104,413,542 (GRCm39) probably benign Het
Cdon T C 9: 35,384,744 (GRCm39) S677P probably benign Het
Cfap161 T C 7: 83,425,353 (GRCm39) E246G probably damaging Het
Dnah11 G A 12: 117,939,608 (GRCm39) probably benign Het
Dnm3 C T 1: 161,838,444 (GRCm39) V835I possibly damaging Het
Eif3a T C 19: 60,762,045 (GRCm39) H510R possibly damaging Het
Fbxw2 G T 2: 34,695,793 (GRCm39) T367K probably benign Het
Ghsr T C 3: 27,426,189 (GRCm39) S82P probably benign Het
Gm4353 C T 7: 115,682,679 (GRCm39) V301I probably benign Het
Golgb1 T C 16: 36,728,178 (GRCm39) probably benign Het
Gria2 T A 3: 80,609,860 (GRCm39) M650L possibly damaging Het
Herc4 T C 10: 63,142,212 (GRCm39) V671A probably benign Het
Iqcb1 T A 16: 36,652,273 (GRCm39) Y61* probably null Het
Irs2 C T 8: 11,056,306 (GRCm39) G709S probably benign Het
Itpripl1 T G 2: 126,983,621 (GRCm39) H167P possibly damaging Het
Kcnn3 T C 3: 89,559,359 (GRCm39) V543A possibly damaging Het
Klf10 T A 15: 38,298,068 (GRCm39) K43M probably damaging Het
Lcor C T 19: 41,547,450 (GRCm39) R345C probably damaging Het
Lmntd2 A G 7: 140,791,832 (GRCm39) S304P probably damaging Het
Lpar3 T C 3: 145,946,949 (GRCm39) I209T probably damaging Het
Me1 A T 9: 86,464,967 (GRCm39) probably benign Het
Nedd4l T G 18: 65,337,028 (GRCm39) probably benign Het
Oas1d T A 5: 121,058,071 (GRCm39) F338L probably benign Het
Or1b1 G T 2: 36,994,786 (GRCm39) P292Q probably damaging Het
Or2c1 T C 16: 3,657,551 (GRCm39) F238S probably damaging Het
Pcdhb5 T C 18: 37,454,103 (GRCm39) V161A probably benign Het
Prdx3 A T 19: 60,859,899 (GRCm39) F91L possibly damaging Het
Rab25 T C 3: 88,450,020 (GRCm39) T114A probably benign Het
Rasal2 T C 1: 157,126,765 (GRCm39) E73G probably benign Het
Slco4c1 A G 1: 96,772,234 (GRCm39) S252P probably damaging Het
Srgap2 A C 1: 131,252,891 (GRCm39) probably null Het
Synpo A G 18: 60,735,502 (GRCm39) S576P probably damaging Het
Tktl2 G T 8: 66,966,013 (GRCm39) A524S possibly damaging Het
Tln2 A T 9: 67,165,874 (GRCm39) probably benign Het
Tmem52 G A 4: 155,554,850 (GRCm39) D158N probably damaging Het
Tyw3 T A 3: 154,302,626 (GRCm39) Q36L probably damaging Het
Usp10 A T 8: 120,675,432 (GRCm39) I483F possibly damaging Het
Usp31 A G 7: 121,278,718 (GRCm39) Y216H probably damaging Het
Vmn1r181 T C 7: 23,683,948 (GRCm39) S138P probably damaging Het
Vmn2r42 G T 7: 8,187,312 (GRCm39) A770E probably damaging Het
Zfp292 A C 4: 34,808,810 (GRCm39) S1411R possibly damaging Het
Other mutations in Map3k13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Map3k13 APN 16 21,740,514 (GRCm39) missense probably benign 0.00
IGL01092:Map3k13 APN 16 21,746,766 (GRCm39) missense probably damaging 0.97
IGL01958:Map3k13 APN 16 21,710,873 (GRCm39) missense probably benign
IGL02503:Map3k13 APN 16 21,727,454 (GRCm39) missense possibly damaging 0.50
IGL02712:Map3k13 APN 16 21,724,005 (GRCm39) missense probably damaging 0.99
IGL03342:Map3k13 APN 16 21,710,981 (GRCm39) missense possibly damaging 0.94
R0086:Map3k13 UTSW 16 21,732,975 (GRCm39) missense probably damaging 0.98
R0124:Map3k13 UTSW 16 21,722,506 (GRCm39) missense possibly damaging 0.95
R0281:Map3k13 UTSW 16 21,732,907 (GRCm39) missense probably damaging 1.00
R0308:Map3k13 UTSW 16 21,710,738 (GRCm39) missense probably benign
R0601:Map3k13 UTSW 16 21,723,999 (GRCm39) missense possibly damaging 0.95
R0669:Map3k13 UTSW 16 21,725,274 (GRCm39) missense probably benign 0.03
R0918:Map3k13 UTSW 16 21,744,990 (GRCm39) missense probably damaging 1.00
R1641:Map3k13 UTSW 16 21,722,542 (GRCm39) missense probably damaging 1.00
R1838:Map3k13 UTSW 16 21,732,939 (GRCm39) missense possibly damaging 0.92
R1891:Map3k13 UTSW 16 21,729,836 (GRCm39) missense probably damaging 1.00
R2125:Map3k13 UTSW 16 21,710,894 (GRCm39) missense probably benign 0.01
R2332:Map3k13 UTSW 16 21,717,427 (GRCm39) splice site probably null
R2361:Map3k13 UTSW 16 21,725,286 (GRCm39) missense probably benign 0.05
R4395:Map3k13 UTSW 16 21,717,321 (GRCm39) missense possibly damaging 0.49
R4505:Map3k13 UTSW 16 21,740,928 (GRCm39) missense probably benign 0.00
R4506:Map3k13 UTSW 16 21,740,928 (GRCm39) missense probably benign 0.00
R4521:Map3k13 UTSW 16 21,724,525 (GRCm39) missense possibly damaging 0.94
R4753:Map3k13 UTSW 16 21,710,752 (GRCm39) missense probably benign
R4952:Map3k13 UTSW 16 21,729,769 (GRCm39) missense probably benign 0.15
R5035:Map3k13 UTSW 16 21,740,421 (GRCm39) missense probably benign 0.03
R5327:Map3k13 UTSW 16 21,740,397 (GRCm39) missense possibly damaging 0.89
R5784:Map3k13 UTSW 16 21,717,391 (GRCm39) missense possibly damaging 0.68
R5831:Map3k13 UTSW 16 21,746,798 (GRCm39) makesense probably null
R5996:Map3k13 UTSW 16 21,723,995 (GRCm39) missense possibly damaging 0.95
R6007:Map3k13 UTSW 16 21,723,933 (GRCm39) missense possibly damaging 0.95
R6546:Map3k13 UTSW 16 21,740,527 (GRCm39) missense probably benign 0.15
R6620:Map3k13 UTSW 16 21,711,061 (GRCm39) missense possibly damaging 0.62
R6683:Map3k13 UTSW 16 21,711,062 (GRCm39) missense probably benign 0.32
R6692:Map3k13 UTSW 16 21,723,987 (GRCm39) missense possibly damaging 0.66
R6695:Map3k13 UTSW 16 21,741,028 (GRCm39) missense probably benign 0.10
R6743:Map3k13 UTSW 16 21,711,173 (GRCm39) missense probably damaging 0.98
R6822:Map3k13 UTSW 16 21,741,013 (GRCm39) missense probably benign 0.00
R6965:Map3k13 UTSW 16 21,740,900 (GRCm39) missense probably benign
R7149:Map3k13 UTSW 16 21,744,187 (GRCm39) missense probably benign 0.04
R7174:Map3k13 UTSW 16 21,745,006 (GRCm39) missense probably damaging 1.00
R7256:Map3k13 UTSW 16 21,710,988 (GRCm39) missense probably benign 0.03
R7400:Map3k13 UTSW 16 21,741,072 (GRCm39) missense probably damaging 1.00
R7733:Map3k13 UTSW 16 21,740,436 (GRCm39) missense probably damaging 1.00
R7848:Map3k13 UTSW 16 21,724,621 (GRCm39) missense probably damaging 0.98
R7871:Map3k13 UTSW 16 21,740,346 (GRCm39) missense probably benign 0.09
R7876:Map3k13 UTSW 16 21,741,069 (GRCm39) missense probably benign 0.00
R8002:Map3k13 UTSW 16 21,723,878 (GRCm39) missense probably benign 0.05
R8089:Map3k13 UTSW 16 21,722,567 (GRCm39) missense possibly damaging 0.48
R8341:Map3k13 UTSW 16 21,740,334 (GRCm39) nonsense probably null
R8738:Map3k13 UTSW 16 21,745,008 (GRCm39) missense probably damaging 1.00
R8940:Map3k13 UTSW 16 21,727,454 (GRCm39) missense possibly damaging 0.50
R8949:Map3k13 UTSW 16 21,723,882 (GRCm39) missense probably benign 0.05
R9391:Map3k13 UTSW 16 21,740,665 (GRCm39) missense probably benign 0.00
R9749:Map3k13 UTSW 16 21,740,581 (GRCm39) missense probably benign 0.00
R9802:Map3k13 UTSW 16 21,740,518 (GRCm39) missense possibly damaging 0.85
Z1176:Map3k13 UTSW 16 21,723,912 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16