Incidental Mutation 'IGL03149:Map3k6'
ID411002
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k6
Ensembl Gene ENSMUSG00000028862
Gene Namemitogen-activated protein kinase kinase kinase 6
SynonymsAsk2, MAPKKK6, MEKK6
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.325) question?
Stock #IGL03149
Quality Score
Status
Chromosome4
Chromosomal Location133240818-133252929 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133249688 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 819 (I819F)
Ref Sequence ENSEMBL: ENSMUSP00000030677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030674] [ENSMUST00000030677] [ENSMUST00000105908]
Predicted Effect probably benign
Transcript: ENSMUST00000030674
SMART Domains Protein: ENSMUSP00000030674
Gene: ENSMUSG00000028860

DomainStartEndE-ValueType
PDB:3BC1|F 40 92 2e-9 PDB
low complexity region 169 183 N/A INTRINSIC
low complexity region 235 262 N/A INTRINSIC
C2 288 389 2.36e-17 SMART
C2 429 532 6.96e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000030677
AA Change: I819F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030677
Gene: ENSMUSG00000028862
AA Change: I819F

DomainStartEndE-ValueType
low complexity region 98 109 N/A INTRINSIC
Pfam:DUF4071 130 508 2.3e-150 PFAM
S_TKc 649 907 3.49e-87 SMART
low complexity region 925 940 N/A INTRINSIC
low complexity region 947 960 N/A INTRINSIC
low complexity region 975 990 N/A INTRINSIC
low complexity region 1130 1146 N/A INTRINSIC
coiled coil region 1164 1195 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105908
SMART Domains Protein: ENSMUSP00000101528
Gene: ENSMUSG00000028860

DomainStartEndE-ValueType
PDB:3BC1|F 40 92 2e-9 PDB
low complexity region 157 171 N/A INTRINSIC
low complexity region 223 250 N/A INTRINSIC
C2 276 359 3.15e-4 SMART
C2 364 467 6.96e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127681
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142039
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154911
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 serine/threonine protein kinase that forms a component of protein kinase-mediated signal transduction cascades. The encoded kinase participates in the regulation of vascular endothelial growth factor (VEGF) expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous and heterozygous null mice display an increased incidence of chemically induced skin tumors and homozygous mice also show resistance to induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 A G 8: 77,409,538 probably benign Het
Arhgap42 A G 9: 9,008,084 I546T possibly damaging Het
Arsj A T 3: 126,439,404 probably benign Het
Ash2l A G 8: 25,818,622 V543A probably benign Het
B4galnt3 A G 6: 120,231,594 probably benign Het
Blvra T A 2: 127,082,951 V11E probably damaging Het
Calcb T C 7: 114,720,136 L51P probably damaging Het
Cd36 T A 5: 17,820,565 K52N probably benign Het
Cebpz T C 17: 78,922,553 N857S probably benign Het
Ces1b A G 8: 93,064,874 probably benign Het
Clspn T C 4: 126,576,502 probably benign Het
Cr2 A T 1: 195,166,366 L283H probably damaging Het
Ctc1 T C 11: 69,031,161 V811A possibly damaging Het
Ctsk T C 3: 95,501,419 S65P possibly damaging Het
Ddx51 A G 5: 110,653,734 N83D probably benign Het
Eci2 T C 13: 34,988,313 T146A probably benign Het
Erbin T C 13: 103,841,163 N629D possibly damaging Het
Etfbkmt A G 6: 149,144,283 E45G probably damaging Het
Fat4 A G 3: 38,991,685 N3951S probably damaging Het
Fktn T C 4: 53,744,653 V311A probably benign Het
Garem1 G T 18: 21,131,466 P534T probably damaging Het
Gm8237 A G 14: 5,864,451 I37T probably benign Het
Ikzf5 T C 7: 131,396,765 K13E probably damaging Het
Kl T A 5: 150,982,735 C523* probably null Het
Klhl7 G A 5: 24,159,689 V574I probably benign Het
Lyst T C 13: 13,681,444 V2450A probably benign Het
Mphosph9 T C 5: 124,263,011 E891G probably damaging Het
Myo7b A G 18: 32,014,302 S63P probably damaging Het
Ndufaf7 C T 17: 78,945,010 R283C possibly damaging Het
Nepro G T 16: 44,727,099 A60S probably damaging Het
Nop56 T C 2: 130,277,525 S354P probably damaging Het
Nwd2 T A 5: 63,805,995 L974H probably damaging Het
Olfr1253 T C 2: 89,752,828 probably null Het
Olfr600 A T 7: 103,346,849 H26Q probably benign Het
Pacsin3 T A 2: 91,261,507 probably benign Het
Parp12 C T 6: 39,114,231 D142N probably benign Het
Pcdh15 G A 10: 74,630,695 D1449N probably damaging Het
Pcsk7 C T 9: 45,909,480 T70M probably benign Het
Pld4 T C 12: 112,766,829 F280L probably benign Het
Ppm1k C A 6: 57,524,774 A135S probably damaging Het
Prkcq A T 2: 11,232,545 Y45F probably benign Het
Prom1 T A 5: 44,029,734 I385F probably damaging Het
Prss12 A G 3: 123,505,387 N603D probably benign Het
Ptbp2 G T 3: 119,720,425 T501K possibly damaging Het
Ranbp17 C A 11: 33,243,183 R957L possibly damaging Het
Rasl10a T C 11: 5,058,429 Y42H possibly damaging Het
Serpina9 G A 12: 104,008,610 Q95* probably null Het
Serpinb1b C A 13: 33,085,292 Q3K possibly damaging Het
Sgo2b T A 8: 63,926,583 M1072L probably benign Het
Slc1a5 T C 7: 16,789,820 V250A probably damaging Het
Slc30a6 T C 17: 74,423,023 S303P probably damaging Het
Tbc1d2 A T 4: 46,637,619 I209N probably benign Het
Tmc4 T A 7: 3,667,178 I484L probably benign Het
Ttll5 G A 12: 85,918,984 E36K probably damaging Het
Unc93b1 A G 19: 3,944,041 M391V probably benign Het
Xpo5 T A 17: 46,215,814 probably null Het
Other mutations in Map3k6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Map3k6 APN 4 133243044 splice site probably benign
IGL01060:Map3k6 APN 4 133247302 splice site probably null
IGL01116:Map3k6 APN 4 133247128 missense probably damaging 0.98
IGL01341:Map3k6 APN 4 133248060 missense possibly damaging 0.67
IGL02383:Map3k6 APN 4 133246621 splice site probably null
IGL03090:Map3k6 APN 4 133243366 missense probably benign 0.05
IGL03096:Map3k6 APN 4 133251345 nonsense probably null
R0110:Map3k6 UTSW 4 133243794 missense probably damaging 1.00
R0142:Map3k6 UTSW 4 133250946 missense probably benign
R0189:Map3k6 UTSW 4 133246941 missense possibly damaging 0.46
R0368:Map3k6 UTSW 4 133252659 missense probably benign 0.23
R0417:Map3k6 UTSW 4 133248082 nonsense probably null
R0595:Map3k6 UTSW 4 133241263 missense probably damaging 0.98
R0597:Map3k6 UTSW 4 133245552 missense possibly damaging 0.46
R0699:Map3k6 UTSW 4 133248126 missense probably damaging 1.00
R1099:Map3k6 UTSW 4 133247128 missense probably damaging 1.00
R1113:Map3k6 UTSW 4 133245815 missense probably damaging 1.00
R1308:Map3k6 UTSW 4 133245815 missense probably damaging 1.00
R1607:Map3k6 UTSW 4 133252473 missense probably damaging 1.00
R2217:Map3k6 UTSW 4 133246672 missense possibly damaging 0.46
R3734:Map3k6 UTSW 4 133248396 missense possibly damaging 0.79
R3735:Map3k6 UTSW 4 133246372 missense probably benign 0.21
R3743:Map3k6 UTSW 4 133245073 missense probably benign 0.26
R4244:Map3k6 UTSW 4 133251947 missense possibly damaging 0.65
R4245:Map3k6 UTSW 4 133251947 missense possibly damaging 0.65
R4465:Map3k6 UTSW 4 133246333 missense possibly damaging 0.66
R4482:Map3k6 UTSW 4 133243399 missense probably benign 0.00
R4827:Map3k6 UTSW 4 133248849 missense possibly damaging 0.92
R5092:Map3k6 UTSW 4 133251743 missense probably benign 0.00
R5110:Map3k6 UTSW 4 133247548 intron probably benign
R5258:Map3k6 UTSW 4 133247642 missense possibly damaging 0.81
R5369:Map3k6 UTSW 4 133247681 missense probably damaging 0.99
R5642:Map3k6 UTSW 4 133245544 missense probably damaging 0.99
R5648:Map3k6 UTSW 4 133243335 missense probably benign 0.25
R6102:Map3k6 UTSW 4 133247131 critical splice donor site probably null
R6144:Map3k6 UTSW 4 133245675 missense probably damaging 1.00
R6476:Map3k6 UTSW 4 133250086 missense probably damaging 0.98
R6511:Map3k6 UTSW 4 133248078 missense probably damaging 0.98
R6522:Map3k6 UTSW 4 133250024 missense possibly damaging 0.65
R6706:Map3k6 UTSW 4 133250939 nonsense probably null
R6874:Map3k6 UTSW 4 133250656 missense probably benign 0.02
R7069:Map3k6 UTSW 4 133251712 missense probably benign 0.01
R7216:Map3k6 UTSW 4 133246900 missense probably damaging 0.99
R7417:Map3k6 UTSW 4 133248396 missense probably benign 0.43
R7538:Map3k6 UTSW 4 133251927 missense probably benign
R7569:Map3k6 UTSW 4 133250077 missense probably benign 0.04
R8003:Map3k6 UTSW 4 133248882 missense probably benign 0.05
R8407:Map3k6 UTSW 4 133247593 missense possibly damaging 0.95
R8817:Map3k6 UTSW 4 133246760 missense probably benign 0.00
Z1088:Map3k6 UTSW 4 133245066 missense probably damaging 0.99
Posted On2016-08-02