Incidental Mutation 'IGL01122:Map3k9'
ID52479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k9
Ensembl Gene ENSMUSG00000042724
Gene Namemitogen-activated protein kinase kinase kinase 9
SynonymsMlk1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01122
Quality Score
Status
Chromosome12
Chromosomal Location81721010-81781175 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81732126 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 471 (D471G)
Ref Sequence ENSEMBL: ENSMUSP00000152201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035987] [ENSMUST00000222322]
Predicted Effect possibly damaging
Transcript: ENSMUST00000035987
AA Change: D471G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041819
Gene: ENSMUSG00000042724
AA Change: D471G

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
SH3 48 108 1.61e-20 SMART
TyrKc 137 396 6.72e-89 SMART
low complexity region 449 469 N/A INTRINSIC
low complexity region 573 590 N/A INTRINSIC
low complexity region 644 657 N/A INTRINSIC
low complexity region 722 736 N/A INTRINSIC
low complexity region 749 765 N/A INTRINSIC
low complexity region 772 783 N/A INTRINSIC
low complexity region 799 811 N/A INTRINSIC
low complexity region 901 915 N/A INTRINSIC
low complexity region 1020 1036 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000222322
AA Change: D471G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223292
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a reporter/null allele exhibit normal development, reproduction and lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap6 A T X: 169,246,670 K142N possibly damaging Het
Atp13a1 T A 8: 69,798,905 L540Q probably damaging Het
C530008M17Rik T C 5: 76,870,675 *1289Q probably null Het
Cacna1a T C 8: 84,614,793 probably null Het
Cops6 A G 5: 138,162,373 K129E probably benign Het
Cyp11a1 T C 9: 58,016,306 I98T probably damaging Het
Cyp2c65 A G 19: 39,072,177 probably null Het
Dapl1 A T 2: 59,494,495 K30I probably damaging Het
Dlg2 A G 7: 92,442,608 M894V possibly damaging Het
Eme2 C T 17: 24,893,346 A202T possibly damaging Het
Fbxw22 A T 9: 109,386,671 S170T probably damaging Het
Gm13078 A G 4: 143,728,401 D423G probably benign Het
Havcr2 A G 11: 46,456,427 Y77C probably damaging Het
Ivd T A 2: 118,876,880 probably benign Het
Med12 T C X: 101,281,543 probably benign Het
Megf6 C T 4: 154,253,807 R445W probably damaging Het
Mptx1 A G 1: 174,332,398 Y90C probably damaging Het
Nek1 G A 8: 61,120,966 V1083I possibly damaging Het
Nepn T A 10: 52,391,815 I59N probably damaging Het
Olfr1245 A G 2: 89,575,423 I101T possibly damaging Het
Pbdc1 T C X: 105,082,691 probably benign Het
Phlpp1 G T 1: 106,173,436 R478L possibly damaging Het
Ppp2r3a A G 9: 101,211,645 L493P probably benign Het
Ppp2r3c C T 12: 55,297,802 G127D probably benign Het
Psap T C 10: 60,299,474 V303A probably benign Het
Rdh13 T C 7: 4,442,695 K60R probably benign Het
Scaf4 A G 16: 90,248,630 S528P unknown Het
Sfmbt1 A G 14: 30,810,311 I543V probably damaging Het
Speg T C 1: 75,410,035 L1271P probably damaging Het
Stard9 C A 2: 120,698,479 T1739K possibly damaging Het
Tas2r134 G T 2: 51,627,659 C50F probably damaging Het
Tmprss11b G T 5: 86,663,517 T186K probably benign Het
U2surp G T 9: 95,490,234 Q291K probably benign Het
Ulk4 A G 9: 121,168,292 I738T possibly damaging Het
Urb1 A T 16: 90,804,458 S142T possibly damaging Het
Vmn2r112 T A 17: 22,603,007 I222N probably benign Het
Zmym4 T C 4: 126,864,252 N1503S probably damaging Het
Other mutations in Map3k9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00640:Map3k9 APN 12 81729698 missense probably benign 0.00
IGL01098:Map3k9 APN 12 81724154 missense probably damaging 1.00
IGL01680:Map3k9 APN 12 81724739 missense probably benign 0.10
IGL01997:Map3k9 APN 12 81772697 missense probably damaging 1.00
IGL02178:Map3k9 APN 12 81743837 missense probably damaging 1.00
IGL02724:Map3k9 APN 12 81724742 missense probably benign
PIT4366001:Map3k9 UTSW 12 81772761 missense possibly damaging 0.95
R0530:Map3k9 UTSW 12 81722482 missense probably benign 0.00
R0541:Map3k9 UTSW 12 81734223 missense possibly damaging 0.79
R0550:Map3k9 UTSW 12 81725781 missense probably damaging 1.00
R0799:Map3k9 UTSW 12 81722269 missense probably benign 0.27
R1730:Map3k9 UTSW 12 81722226 missense probably damaging 0.99
R1783:Map3k9 UTSW 12 81722226 missense probably damaging 0.99
R1859:Map3k9 UTSW 12 81724482 missense possibly damaging 0.82
R1917:Map3k9 UTSW 12 81780790 nonsense probably null
R3121:Map3k9 UTSW 12 81743924 missense probably damaging 1.00
R3779:Map3k9 UTSW 12 81743791 splice site probably benign
R3931:Map3k9 UTSW 12 81772917 missense probably damaging 0.99
R3951:Map3k9 UTSW 12 81722521 missense probably benign
R4571:Map3k9 UTSW 12 81734091 missense probably benign 0.25
R4728:Map3k9 UTSW 12 81722373 missense probably damaging 0.96
R4857:Map3k9 UTSW 12 81724627 missense probably benign 0.42
R4882:Map3k9 UTSW 12 81724162 missense probably damaging 1.00
R5077:Map3k9 UTSW 12 81734077 splice site probably null
R5369:Map3k9 UTSW 12 81722052 missense probably damaging 0.98
R5418:Map3k9 UTSW 12 81743817 nonsense probably null
R5540:Map3k9 UTSW 12 81772813 missense probably damaging 1.00
R5567:Map3k9 UTSW 12 81732024 missense possibly damaging 0.67
R5570:Map3k9 UTSW 12 81732024 missense possibly damaging 0.67
R5696:Map3k9 UTSW 12 81734122 missense probably benign 0.00
R6539:Map3k9 UTSW 12 81732192 missense probably damaging 0.98
R6542:Map3k9 UTSW 12 81722254 missense possibly damaging 0.91
R6816:Map3k9 UTSW 12 81722254 missense possibly damaging 0.91
R6964:Map3k9 UTSW 12 81773003 missense probably benign 0.00
R7027:Map3k9 UTSW 12 81730624 missense probably benign 0.06
R7055:Map3k9 UTSW 12 81724208 missense probably damaging 0.99
R7082:Map3k9 UTSW 12 81724702 missense probably damaging 1.00
R7247:Map3k9 UTSW 12 81725830 missense possibly damaging 0.65
R7424:Map3k9 UTSW 12 81724097 missense probably benign 0.00
R7476:Map3k9 UTSW 12 81743808 missense probably damaging 1.00
R7638:Map3k9 UTSW 12 81724732 missense probably benign 0.00
X0025:Map3k9 UTSW 12 81724412 missense possibly damaging 0.58
Posted On2013-06-21