Incidental Mutation 'IGL01603:Map3k19'
ID92207
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: 0.106) question?
Stock #IGL01603
Quality Score
Status
Chromosome1
Chromosomal Location127815253-127855031 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 127830273 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 186 (D186V)
Ref Sequence ENSEMBL: ENSMUSP00000056254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061512] [ENSMUST00000208183]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061512
AA Change: D186V

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: D186V

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 probably benign
Transcript: ENSMUST00000187653
SMART Domains Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590

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: D196V
SMART Domains Protein: ENSMUSP00000140449
Gene: ENSMUSG00000051590
AA Change: D196V

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: D196V
SMART Domains Protein: ENSMUSP00000141029
Gene: ENSMUSG00000051590
AA Change: D196V

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: D390V

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l T A 17: 32,345,353 D20V probably damaging Het
Akr1c12 A G 13: 4,272,927 probably null Het
Baiap2l1 C T 5: 144,280,815 probably benign Het
Baz2a T C 10: 128,111,168 F184L probably damaging Het
BC049730 T A 7: 24,712,529 W45R probably damaging Het
Cadps T C 14: 12,454,154 probably benign Het
Cbr4 A T 8: 61,503,211 *237Y probably null Het
Cln3 T G 7: 126,575,354 N275T probably benign Het
Csf1r A G 18: 61,129,301 E823G probably damaging Het
Ctr9 C A 7: 111,049,331 A726D probably damaging Het
Def6 C T 17: 28,219,740 probably benign Het
Dock4 T A 12: 40,693,031 I395N probably damaging Het
Eln T C 5: 134,719,040 probably benign Het
Fasn A T 11: 120,816,065 H920Q probably damaging Het
Glb1l3 A G 9: 26,859,536 I78T probably damaging Het
Gm7275 A T 16: 48,073,579 noncoding transcript Het
Grm5 A C 7: 87,603,178 Y212S probably damaging Het
Gtf2ird2 T C 5: 134,202,288 probably benign Het
Gucy1b1 A G 3: 82,034,868 V528A probably damaging Het
Hspg2 G A 4: 137,552,803 A3168T probably damaging Het
Kcnj6 A G 16: 94,833,199 S18P probably benign Het
Kcnq5 T A 1: 21,505,340 K294I possibly damaging Het
Lama4 G A 10: 39,065,646 G693E possibly damaging Het
Ldb1 A T 19: 46,035,575 I124K probably damaging Het
Lrrfip1 C T 1: 91,115,913 T680I probably benign Het
Mrgprx2 T C 7: 48,482,626 Y148C probably damaging Het
Muc4 G A 16: 32,750,655 A178T probably benign Het
Mylip A C 13: 45,390,003 E16A probably benign Het
Nek9 A G 12: 85,305,605 F828S probably damaging Het
Obscn A G 11: 59,037,805 F6012L probably damaging Het
Olfr1394 A C 11: 49,160,611 D199A probably damaging Het
Olfr298 A G 7: 86,488,931 S207P possibly damaging Het
Olfr474 A G 7: 107,955,373 Y244C possibly damaging Het
Pcid2 T A 8: 13,079,936 K273N possibly damaging Het
Plekhm3 C T 1: 64,921,832 D422N probably damaging Het
Prr12 T C 7: 45,043,485 H1541R probably damaging Het
Psg26 A C 7: 18,475,103 V460G probably damaging Het
Rbmxl1 G A 8: 78,505,830 R295* probably null Het
Sbf1 A T 15: 89,303,278 V690E probably damaging Het
Serpinb2 T A 1: 107,522,180 S108T probably benign Het
Sin3b T C 8: 72,750,064 Y709H probably damaging Het
Slc17a5 A G 9: 78,574,707 W160R probably damaging Het
Spef2 T A 15: 9,704,380 D449V probably damaging Het
Tas2r108 C A 6: 40,493,786 N65K possibly damaging Het
Tex15 T A 8: 33,573,547 F1002I possibly damaging Het
Trpm5 G A 7: 143,075,601 S942L probably benign Het
Tspan5 T C 3: 138,890,756 S52P probably damaging Het
Uqcrfs1 T C 13: 30,541,198 T120A probably benign Het
Usp6nl T C 2: 6,423,435 F193L probably damaging Het
Vmn2r26 T A 6: 124,053,874 C523S probably damaging Het
Wfdc2 C T 2: 164,564,059 P92S probably benign Het
Zbtb18 A T 1: 177,447,983 H303L probably benign Het
Zfp174 A T 16: 3,854,289 H234L probably benign Het
Zmynd12 T C 4: 119,441,920 probably null 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
IGL01443:Map3k19 APN 1 127838507 missense probably benign 0.38
IGL01481:Map3k19 APN 1 127822478 missense probably damaging 0.99
IGL01530:Map3k19 APN 1 127822104 missense probably damaging 1.00
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
R7414:Map3k19 UTSW 1 127838452 missense probably damaging 0.99
Posted On2013-12-09