Incidental Mutation 'IGL01443:Map3k19'
ID84316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k19
Ensembl Gene ENSMUSG00000051590
Gene Namemitogen-activated protein kinase kinase kinase 19
SynonymsYsk4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #IGL01443
Quality Score
Status
Chromosome1
Chromosomal Location127815253-127855031 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127838507 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 227 (S227P)
Ref Sequence ENSEMBL: ENSMUSP00000146463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061512] [ENSMUST00000208183]
Predicted Effect probably benign
Transcript: ENSMUST00000061512
AA Change: S23P

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: S23P

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
low complexity region 232 248 N/A INTRINSIC
low complexity region 952 964 N/A INTRINSIC
S_TKc 1044 1307 3.18e-90 SMART
Predicted Effect unknown
Transcript: ENSMUST00000187653
AA Change: S33P
SMART Domains Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: S33P

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
low complexity region 121 137 N/A INTRINSIC
low complexity region 841 853 N/A INTRINSIC
S_TKc 933 1196 1.5e-92 SMART
Predicted Effect unknown
Transcript: ENSMUST00000189398
AA Change: S33P
SMART Domains Protein: ENSMUSP00000140449
Gene: ENSMUSG00000051590
AA Change: S33P

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
S_TKc 216 452 4.8e-15 SMART
Predicted Effect unknown
Transcript: ENSMUST00000191333
AA Change: S33P
SMART Domains Protein: ENSMUSP00000141029
Gene: ENSMUSG00000051590
AA Change: S33P

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
S_TKc 237 500 1.5e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208183
AA Change: S227P

PolyPhen 2 Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930572O03Rik A G 5: 15,652,644 *212Q probably null Het
Adamts2 A G 11: 50,803,863 E1159G possibly damaging Het
Adgrl3 A G 5: 81,465,287 Y189C probably damaging Het
AW554918 G A 18: 25,344,955 G446R probably damaging Het
Baiap3 A G 17: 25,245,147 F884S possibly damaging Het
Cd101 T C 3: 101,003,571 T924A probably benign Het
Cdk12 T A 11: 98,245,469 V1183E unknown Het
Clcc1 T C 3: 108,670,903 M240T probably benign Het
Dnmbp C A 19: 43,902,870 A153S probably damaging Het
Dus4l T C 12: 31,652,410 probably benign Het
Dyrk1a A G 16: 94,685,084 E430G probably benign Het
Erc1 T C 6: 119,824,471 K195R probably damaging Het
Evpl T C 11: 116,222,454 E1470G probably damaging Het
Extl3 A T 14: 65,077,470 S88T probably damaging Het
Fam135b A T 15: 71,463,364 H660Q probably benign Het
Fat1 G A 8: 45,040,576 G3920S probably damaging Het
Fbxo38 A G 18: 62,533,670 V144A probably damaging Het
Grwd1 C T 7: 45,830,410 probably null Het
Hdlbp T C 1: 93,431,074 T252A probably damaging Het
Igkv3-1 A G 6: 70,704,104 S96G possibly damaging Het
Igkv4-68 G T 6: 69,304,937 F83L probably damaging Het
Klhl31 T C 9: 77,650,260 V86A possibly damaging Het
Lypd3 G A 7: 24,636,638 G17R probably benign Het
Manba T A 3: 135,544,828 D405E probably damaging Het
Nras T A 3: 103,062,435 C118S probably benign Het
Olfr659 A G 7: 104,671,071 D123G probably damaging Het
Pde8a T C 7: 81,324,181 F629L probably damaging Het
Phtf2 A G 5: 20,782,267 probably benign Het
Pik3c2a A T 7: 116,418,194 F109L probably benign Het
Plod3 G A 5: 136,990,221 R320H probably benign Het
Ppib T C 9: 66,065,597 F152L probably damaging Het
Rbm19 T C 5: 120,143,438 probably benign Het
Rgs12 T A 5: 34,975,219 S628R probably benign Het
Ripk1 A G 13: 34,015,268 D201G probably damaging Het
St14 G T 9: 31,100,193 S434* probably null Het
Tbc1d9 A G 8: 83,239,931 D387G probably damaging Het
Trio A G 15: 27,838,775 probably benign Het
Ttn G A 2: 76,713,871 R32924C probably damaging Het
Vmn1r181 T C 7: 23,984,581 V157A possibly damaging Het
Zfp473 C T 7: 44,739,563 D45N probably damaging Het
Other mutations in Map3k19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Map3k19 APN 1 127824331 nonsense probably null
IGL01367:Map3k19 APN 1 127824351 missense possibly damaging 0.88
IGL01481:Map3k19 APN 1 127822478 missense probably damaging 0.99
IGL01530:Map3k19 APN 1 127822104 missense probably damaging 1.00
IGL01603:Map3k19 APN 1 127830273 missense possibly damaging 0.89
IGL02044:Map3k19 APN 1 127823505 missense probably damaging 1.00
IGL02159:Map3k19 APN 1 127823170 missense probably benign 0.00
IGL02296:Map3k19 APN 1 127824246 missense probably damaging 1.00
IGL02349:Map3k19 APN 1 127823769 missense possibly damaging 0.48
IGL02823:Map3k19 APN 1 127822264 missense probably benign 0.01
IGL02965:Map3k19 APN 1 127824066 missense probably damaging 0.98
IGL03137:Map3k19 APN 1 127824315 missense probably benign 0.04
R0125:Map3k19 UTSW 1 127823100 missense probably benign 0.07
R0265:Map3k19 UTSW 1 127822182 missense possibly damaging 0.61
R0389:Map3k19 UTSW 1 127822415 missense probably benign 0.08
R0443:Map3k19 UTSW 1 127822415 missense probably benign 0.08
R0465:Map3k19 UTSW 1 127838527 missense probably damaging 1.00
R0645:Map3k19 UTSW 1 127822182 missense possibly damaging 0.61
R0759:Map3k19 UTSW 1 127817425 missense possibly damaging 0.90
R0815:Map3k19 UTSW 1 127834638 splice site probably benign
R0838:Map3k19 UTSW 1 127823959 missense probably benign 0.13
R1173:Map3k19 UTSW 1 127823880 missense probably benign 0.17
R1174:Map3k19 UTSW 1 127823880 missense probably benign 0.17
R1175:Map3k19 UTSW 1 127823880 missense probably benign 0.17
R1457:Map3k19 UTSW 1 127817898 missense probably damaging 1.00
R1661:Map3k19 UTSW 1 127817656 missense possibly damaging 0.95
R1665:Map3k19 UTSW 1 127817656 missense possibly damaging 0.95
R1753:Map3k19 UTSW 1 127822680 missense probably benign 0.02
R1944:Map3k19 UTSW 1 127823122 missense probably benign 0.29
R2496:Map3k19 UTSW 1 127823086 missense probably damaging 1.00
R2878:Map3k19 UTSW 1 127823793 missense possibly damaging 0.61
R2895:Map3k19 UTSW 1 127822098 missense possibly damaging 0.60
R3025:Map3k19 UTSW 1 127838553 critical splice acceptor site probably null
R4577:Map3k19 UTSW 1 127822813 nonsense probably null
R4612:Map3k19 UTSW 1 127815300 missense probably benign 0.07
R4888:Map3k19 UTSW 1 127817733 missense probably damaging 1.00
R4927:Map3k19 UTSW 1 127822195 missense probably benign 0.08
R5028:Map3k19 UTSW 1 127823232 missense probably benign 0.00
R5050:Map3k19 UTSW 1 127823562 missense probably benign 0.21
R5131:Map3k19 UTSW 1 127823690 missense possibly damaging 0.78
R5556:Map3k19 UTSW 1 127834547 nonsense probably null
R5606:Map3k19 UTSW 1 127822957 missense probably benign
R5617:Map3k19 UTSW 1 127822966 missense probably damaging 1.00
R5755:Map3k19 UTSW 1 127822381 missense probably benign 0.02
R5854:Map3k19 UTSW 1 127830355 missense probably damaging 0.96
R5952:Map3k19 UTSW 1 127822740 missense probably benign 0.01
R6132:Map3k19 UTSW 1 127850476 missense possibly damaging 0.53
R6175:Map3k19 UTSW 1 127822832 missense probably benign 0.05
R6261:Map3k19 UTSW 1 127822599 missense possibly damaging 0.95
R6471:Map3k19 UTSW 1 127817254 missense probably damaging 1.00
R6726:Map3k19 UTSW 1 127820448 missense probably benign 0.09
R6732:Map3k19 UTSW 1 127824232 missense probably benign 0.37
R6762:Map3k19 UTSW 1 127847264 missense probably damaging 1.00
R7366:Map3k19 UTSW 1 127817455 missense probably damaging 1.00
Posted On2013-11-11