Incidental Mutation 'IGL02349:Map3k19'
ID 289412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Map3k19
Ensembl Gene ENSMUSG00000051590
Gene Name mitogen-activated protein kinase kinase kinase 19
Synonyms Ysk4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL02349
Quality Score
Status
Chromosome 1
Chromosomal Location 127742528-127782768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 127751506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 615 (D615V)
Ref Sequence ENSEMBL: ENSMUSP00000146463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061512] [ENSMUST00000208183]
AlphaFold E9Q3S4
Predicted Effect probably benign
Transcript: ENSMUST00000061512
AA Change: D411V

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: D411V

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: D310V
SMART Domains Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: D310V

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 probably benign
Transcript: ENSMUST00000189398
SMART Domains Protein: ENSMUSP00000140449
Gene: ENSMUSG00000051590

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

DomainStartEndE-ValueType
low complexity region 42 54 N/A INTRINSIC
S_TKc 237 500 1.5e-92 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000208183
AA Change: D615V

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,611,462 (GRCm39) I484V probably benign Het
Acly C T 11: 100,410,505 (GRCm39) E158K probably benign Het
Akap3 T A 6: 126,837,226 (GRCm39) D3E probably benign Het
Alg8 A G 7: 97,029,101 (GRCm39) N152S possibly damaging Het
Ano7 A G 1: 93,319,212 (GRCm39) T323A probably benign Het
Bmp1 T C 14: 70,744,989 (GRCm39) Y252C possibly damaging Het
Cacnb3 A T 15: 98,538,842 (GRCm39) K159* probably null Het
Capns2 T A 8: 93,628,690 (GRCm39) V193D probably benign Het
Cct2 A G 10: 116,889,044 (GRCm39) I48T probably benign Het
Cep152 A G 2: 125,436,876 (GRCm39) S555P probably damaging Het
Col5a3 T C 9: 20,683,657 (GRCm39) E1533G unknown Het
Cyp17a1 A G 19: 46,655,936 (GRCm39) L451P probably damaging Het
Dgcr8 T C 16: 18,098,170 (GRCm39) E407G possibly damaging Het
Dhx57 T A 17: 80,563,000 (GRCm39) N876Y probably damaging Het
Dnah7b T A 1: 46,138,663 (GRCm39) L235* probably null Het
Fgfr2 A G 7: 129,844,336 (GRCm39) Y50H probably damaging Het
Gars1 T A 6: 55,025,049 (GRCm39) probably benign Het
Gfpt2 A T 11: 49,698,530 (GRCm39) I42F probably benign Het
Glcci1 A G 6: 8,558,581 (GRCm39) K35E probably damaging Het
Gpatch1 T A 7: 35,006,680 (GRCm39) M163L probably damaging Het
Gpr132 T C 12: 112,816,475 (GRCm39) Y117C probably damaging Het
Ints1 G A 5: 139,754,223 (GRCm39) P650S probably damaging Het
Itga2b T C 11: 102,352,189 (GRCm39) D464G probably damaging Het
Kansl2 C A 15: 98,427,327 (GRCm39) G185C probably damaging Het
Kat6b T A 14: 21,687,661 (GRCm39) M570K probably damaging Het
Macir A G 1: 97,573,777 (GRCm39) L96P probably damaging Het
Map3k7cl A G 16: 87,352,901 (GRCm39) probably benign Het
Msto1 A C 3: 88,818,205 (GRCm39) S360R possibly damaging Het
Myo15b C A 11: 115,753,931 (GRCm39) probably benign Het
Nhlrc2 T C 19: 56,580,151 (GRCm39) V428A possibly damaging Het
Or13a28 T C 7: 140,218,384 (GRCm39) F257L probably benign Het
Or1j19 A C 2: 36,677,058 (GRCm39) T174P possibly damaging Het
Or51a39 G A 7: 102,363,333 (GRCm39) R96C probably damaging Het
Or51f2 A T 7: 102,527,116 (GRCm39) Y263F probably benign Het
Or5p51 A G 7: 107,444,812 (GRCm39) S43P probably benign Het
Or8b12 T A 9: 37,657,502 (GRCm39) M24K probably benign Het
Pcm1 G T 8: 41,741,192 (GRCm39) probably null Het
Plekhg3 A T 12: 76,609,074 (GRCm39) N149I probably damaging Het
Rbp3 C A 14: 33,677,676 (GRCm39) H541Q probably damaging Het
Rgp1 T C 4: 43,581,236 (GRCm39) probably null Het
Scyl2 A T 10: 89,493,800 (GRCm39) probably benign Het
Tas2r144 A C 6: 42,193,010 (GRCm39) H250P probably benign Het
Tmppe T C 9: 114,234,268 (GRCm39) V189A probably benign Het
Trp53bp1 G A 2: 121,029,555 (GRCm39) S1875L probably damaging Het
Txnl4a T A 18: 80,261,944 (GRCm39) L60H probably damaging Het
Upp2 A G 2: 58,667,898 (GRCm39) D217G probably benign Het
Vmn2r74 A G 7: 85,601,724 (GRCm39) L638P probably damaging Het
Vnn1 A G 10: 23,774,401 (GRCm39) N148S possibly damaging Het
Xrcc1 C T 7: 24,266,467 (GRCm39) Q241* probably null Het
Zfp990 A G 4: 145,257,447 (GRCm39) probably benign Het
Other mutations in Map3k19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01126:Map3k19 APN 1 127,752,068 (GRCm39) nonsense probably null
IGL01367:Map3k19 APN 1 127,752,088 (GRCm39) missense possibly damaging 0.88
IGL01443:Map3k19 APN 1 127,766,244 (GRCm39) missense probably benign 0.38
IGL01481:Map3k19 APN 1 127,750,215 (GRCm39) missense probably damaging 0.99
IGL01530:Map3k19 APN 1 127,749,841 (GRCm39) missense probably damaging 1.00
IGL01603:Map3k19 APN 1 127,758,010 (GRCm39) missense possibly damaging 0.89
IGL02044:Map3k19 APN 1 127,751,242 (GRCm39) missense probably damaging 1.00
IGL02159:Map3k19 APN 1 127,750,907 (GRCm39) missense probably benign 0.00
IGL02296:Map3k19 APN 1 127,751,983 (GRCm39) missense probably damaging 1.00
IGL02823:Map3k19 APN 1 127,750,001 (GRCm39) missense probably benign 0.01
IGL02965:Map3k19 APN 1 127,751,803 (GRCm39) missense probably damaging 0.98
IGL03137:Map3k19 APN 1 127,752,052 (GRCm39) missense probably benign 0.04
R0125:Map3k19 UTSW 1 127,750,837 (GRCm39) missense probably benign 0.07
R0265:Map3k19 UTSW 1 127,749,919 (GRCm39) missense possibly damaging 0.61
R0389:Map3k19 UTSW 1 127,750,152 (GRCm39) missense probably benign 0.08
R0443:Map3k19 UTSW 1 127,750,152 (GRCm39) missense probably benign 0.08
R0465:Map3k19 UTSW 1 127,766,264 (GRCm39) missense probably damaging 1.00
R0645:Map3k19 UTSW 1 127,749,919 (GRCm39) missense possibly damaging 0.61
R0759:Map3k19 UTSW 1 127,745,162 (GRCm39) missense possibly damaging 0.90
R0815:Map3k19 UTSW 1 127,762,375 (GRCm39) splice site probably benign
R0838:Map3k19 UTSW 1 127,751,696 (GRCm39) missense probably benign 0.13
R1173:Map3k19 UTSW 1 127,751,617 (GRCm39) missense probably benign 0.17
R1174:Map3k19 UTSW 1 127,751,617 (GRCm39) missense probably benign 0.17
R1175:Map3k19 UTSW 1 127,751,617 (GRCm39) missense probably benign 0.17
R1457:Map3k19 UTSW 1 127,745,635 (GRCm39) missense probably damaging 1.00
R1661:Map3k19 UTSW 1 127,745,393 (GRCm39) missense possibly damaging 0.95
R1665:Map3k19 UTSW 1 127,745,393 (GRCm39) missense possibly damaging 0.95
R1753:Map3k19 UTSW 1 127,750,417 (GRCm39) missense probably benign 0.02
R1944:Map3k19 UTSW 1 127,750,859 (GRCm39) missense probably benign 0.29
R2496:Map3k19 UTSW 1 127,750,823 (GRCm39) missense probably damaging 1.00
R2878:Map3k19 UTSW 1 127,751,530 (GRCm39) missense possibly damaging 0.61
R2895:Map3k19 UTSW 1 127,749,835 (GRCm39) missense possibly damaging 0.60
R3025:Map3k19 UTSW 1 127,766,290 (GRCm39) critical splice acceptor site probably null
R4577:Map3k19 UTSW 1 127,750,550 (GRCm39) nonsense probably null
R4612:Map3k19 UTSW 1 127,743,037 (GRCm39) missense probably benign 0.07
R4888:Map3k19 UTSW 1 127,745,470 (GRCm39) missense probably damaging 1.00
R4927:Map3k19 UTSW 1 127,749,932 (GRCm39) missense probably benign 0.08
R5028:Map3k19 UTSW 1 127,750,969 (GRCm39) missense probably benign 0.00
R5050:Map3k19 UTSW 1 127,751,299 (GRCm39) missense probably benign 0.21
R5131:Map3k19 UTSW 1 127,751,427 (GRCm39) missense possibly damaging 0.78
R5556:Map3k19 UTSW 1 127,762,284 (GRCm39) nonsense probably null
R5606:Map3k19 UTSW 1 127,750,694 (GRCm39) missense probably benign
R5617:Map3k19 UTSW 1 127,750,703 (GRCm39) missense probably damaging 1.00
R5755:Map3k19 UTSW 1 127,750,118 (GRCm39) missense probably benign 0.02
R5854:Map3k19 UTSW 1 127,758,092 (GRCm39) missense probably damaging 0.96
R5952:Map3k19 UTSW 1 127,750,477 (GRCm39) missense probably benign 0.01
R6132:Map3k19 UTSW 1 127,778,213 (GRCm39) missense possibly damaging 0.53
R6175:Map3k19 UTSW 1 127,750,569 (GRCm39) missense probably benign 0.05
R6261:Map3k19 UTSW 1 127,750,336 (GRCm39) missense possibly damaging 0.95
R6471:Map3k19 UTSW 1 127,744,991 (GRCm39) missense probably damaging 1.00
R6726:Map3k19 UTSW 1 127,748,185 (GRCm39) missense probably benign 0.09
R6732:Map3k19 UTSW 1 127,751,969 (GRCm39) missense probably benign 0.37
R6762:Map3k19 UTSW 1 127,775,001 (GRCm39) missense probably damaging 1.00
R7366:Map3k19 UTSW 1 127,745,192 (GRCm39) missense probably damaging 1.00
R7414:Map3k19 UTSW 1 127,766,189 (GRCm39) missense probably damaging 0.99
R7686:Map3k19 UTSW 1 127,749,985 (GRCm39) nonsense probably null
R7702:Map3k19 UTSW 1 127,756,827 (GRCm39) missense probably damaging 1.00
R7849:Map3k19 UTSW 1 127,751,383 (GRCm39) missense probably benign 0.21
R8129:Map3k19 UTSW 1 127,750,420 (GRCm39) missense possibly damaging 0.90
R8134:Map3k19 UTSW 1 127,751,492 (GRCm39) missense probably damaging 0.99
R8136:Map3k19 UTSW 1 127,751,492 (GRCm39) missense probably damaging 0.99
R8264:Map3k19 UTSW 1 127,751,528 (GRCm39) missense
R8305:Map3k19 UTSW 1 127,745,007 (GRCm39) missense
R8511:Map3k19 UTSW 1 127,775,155 (GRCm39) missense possibly damaging 0.71
R8808:Map3k19 UTSW 1 127,751,866 (GRCm39) missense probably damaging 1.00
R8913:Map3k19 UTSW 1 127,750,363 (GRCm39) missense probably benign 0.08
R9025:Map3k19 UTSW 1 127,758,175 (GRCm39) missense probably benign 0.06
R9593:Map3k19 UTSW 1 127,778,163 (GRCm39) missense probably benign 0.01
R9681:Map3k19 UTSW 1 127,750,097 (GRCm39) missense possibly damaging 0.61
Z1177:Map3k19 UTSW 1 127,749,771 (GRCm39) missense probably benign 0.16
Posted On 2015-04-16