Incidental Mutation 'IGL02712:Map3k13'
ID 304603
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 # IGL02712
Quality Score
Status
Chromosome 16
Chromosomal Location 21643923-21752189 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 21724005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 329 (V329G)
Ref Sequence ENSEMBL: ENSMUSP00000156202 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042065] [ENSMUST00000231988] [ENSMUST00000232240]
AlphaFold Q1HKZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000042065
AA Change: V329G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047388
Gene: ENSMUSG00000033618
AA Change: V329G

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 noncoding transcript
Transcript: ENSMUST00000180401
Predicted Effect probably damaging
Transcript: ENSMUST00000231988
AA Change: V329G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000232240
AA Change: V329G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angel1 A G 12: 86,769,613 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,667,802 (GRCm39) V289D probably damaging Het
Cabp5 A G 7: 13,137,271 (GRCm39) M93V probably damaging Het
Ces1a A C 8: 93,762,668 (GRCm39) V201G probably damaging Het
Cisd1 A G 10: 71,172,181 (GRCm39) F34L probably benign Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Ddx39a A G 8: 84,448,386 (GRCm39) I213V probably benign Het
Ddx59 A T 1: 136,367,519 (GRCm39) N542I probably benign Het
Dytn T C 1: 63,703,581 (GRCm39) T233A probably benign Het
Fbxo7 A G 10: 85,860,302 (GRCm39) T49A possibly damaging Het
Fmnl2 C A 2: 52,926,510 (GRCm39) probably benign Het
Golga2 G T 2: 32,194,225 (GRCm39) K610N probably damaging Het
Hipk4 T C 7: 27,228,060 (GRCm39) Y269H probably damaging Het
Ifi209 T C 1: 173,470,267 (GRCm39) V285A possibly damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Mrm3 T C 11: 76,134,683 (GRCm39) W29R possibly damaging Het
Nherf1 T C 11: 115,068,060 (GRCm39) V200A possibly damaging Het
Nos1ap T C 1: 170,156,820 (GRCm39) I213V possibly damaging Het
Nphp4 C T 4: 152,640,732 (GRCm39) T1033M probably damaging Het
Nr5a2 T C 1: 136,868,266 (GRCm39) probably null Het
Nrcam A G 12: 44,620,610 (GRCm39) Y885C probably damaging Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or1e17 T C 11: 73,831,756 (GRCm39) V228A probably benign Het
Or8b57 T C 9: 40,004,082 (GRCm39) H60R probably damaging Het
Ovgp1 T A 3: 105,893,829 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,113 (GRCm39) S1341G probably benign Het
Pld2 T G 11: 70,447,905 (GRCm39) L856R probably benign Het
Plod1 A G 4: 148,003,344 (GRCm39) F494L possibly damaging Het
Pnkd T A 1: 74,389,027 (GRCm39) S233T possibly damaging Het
Rnf144b T C 13: 47,393,255 (GRCm39) I198T probably damaging Het
Rsc1a1 G T 4: 141,412,376 (GRCm39) Q179K probably benign Het
Slc5a10 C T 11: 61,598,632 (GRCm39) W249* probably null Het
Spata32 T G 11: 103,098,973 (GRCm39) probably benign Het
Stk4 T A 2: 163,938,817 (GRCm39) H228Q probably damaging Het
Szt2 T A 4: 118,242,030 (GRCm39) Q1592L probably benign Het
Tnc T A 4: 63,893,493 (GRCm39) I1598F probably damaging Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Ttll6 T G 11: 96,030,601 (GRCm39) probably benign Het
Vmn2r118 A G 17: 55,899,655 (GRCm39) S750P probably benign Het
Zswim5 C T 4: 116,842,892 (GRCm39) T879I probably 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
IGL02444:Map3k13 APN 16 21,732,982 (GRCm39) missense probably benign 0.19
IGL02503:Map3k13 APN 16 21,727,454 (GRCm39) missense possibly damaging 0.50
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