Incidental Mutation 'R0838:Map3k19'
ID 78020
Institutional Source Beutler Lab
Gene Symbol Map3k19
Ensembl Gene ENSMUSG00000051590
Gene Name mitogen-activated protein kinase kinase kinase 19
Synonyms Ysk4
MMRRC Submission 039017-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R0838 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 127742528-127782768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 127751696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 552 (V552F)
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: V348F

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: V348F

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: V247F
SMART Domains Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: V247F

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 probably benign
Transcript: ENSMUST00000208183
AA Change: V552F

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 94.3%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik T A 7: 130,963,535 (GRCm39) M53L probably damaging Het
Adamts6 A G 13: 104,550,297 (GRCm39) N638D possibly damaging Het
Amy2b T C 3: 113,058,317 (GRCm39) noncoding transcript Het
Ap5s1 G A 2: 131,053,351 (GRCm39) R45K probably damaging Het
Arap1 T C 7: 101,049,619 (GRCm39) Y994H probably damaging Het
Arrdc3 A T 13: 81,037,366 (GRCm39) probably benign Het
Bard1 G A 1: 71,069,812 (GRCm39) T722M probably damaging Het
Ccdc88a A G 11: 29,350,285 (GRCm39) Y89C probably damaging Het
Cd96 A G 16: 45,938,289 (GRCm39) S59P probably damaging Het
Chit1 T A 1: 134,071,075 (GRCm39) C51* probably null Het
Cilp2 G T 8: 70,334,369 (GRCm39) H876Q probably benign Het
Cyld A G 8: 89,467,978 (GRCm39) E722G probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dedd2 T C 7: 24,910,612 (GRCm39) E188G probably benign Het
Dnah17 A T 11: 117,950,930 (GRCm39) W2898R probably damaging Het
Dpy19l1 T C 9: 24,343,727 (GRCm39) T473A probably damaging Het
Fam228a T A 12: 4,785,002 (GRCm39) H43L possibly damaging Het
Fkbp15 G T 4: 62,242,363 (GRCm39) H530N probably damaging Het
Gga1 C T 15: 78,776,118 (GRCm39) S387L probably damaging Het
Gm4868 A G 5: 125,925,687 (GRCm39) noncoding transcript Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
Itgb4 A C 11: 115,888,988 (GRCm39) probably benign Het
Jag1 G A 2: 136,935,198 (GRCm39) T388I probably damaging Het
Kcnh1 A G 1: 192,095,514 (GRCm39) D551G probably damaging Het
Lrp2bp A G 8: 46,478,161 (GRCm39) D270G possibly damaging Het
Mixl1 A T 1: 180,524,365 (GRCm39) D71E probably benign Het
Myocd A G 11: 65,069,758 (GRCm39) I694T probably benign Het
Nadk2 T A 15: 9,091,322 (GRCm39) S198T probably benign Het
Npepps A T 11: 97,158,518 (GRCm39) probably benign Het
Nt5c1b C T 12: 10,425,071 (GRCm39) Q206* probably null Het
Or51b17 T A 7: 103,542,622 (GRCm39) I107F probably benign Het
Orm1 A G 4: 63,263,394 (GRCm39) Y69C probably damaging Het
Plscr4 T A 9: 92,353,813 (GRCm39) probably benign Het
Pon1 G A 6: 5,175,758 (GRCm39) T188I possibly damaging Het
Ppm1a T A 12: 72,831,094 (GRCm39) H206Q probably benign Het
Prl8a1 G A 13: 27,758,008 (GRCm39) R234C probably damaging Het
Rfx3 C T 19: 27,827,367 (GRCm39) R73Q possibly damaging Het
Rims2 T C 15: 39,544,421 (GRCm39) V1466A probably benign Het
Sec24d T A 3: 123,099,485 (GRCm39) F319L probably benign Het
Slc15a4 A G 5: 127,694,067 (GRCm39) S123P possibly damaging Het
Slc1a6 A T 10: 78,632,056 (GRCm39) D294V probably damaging Het
Slc28a3 A T 13: 58,736,083 (GRCm39) D38E probably benign Het
Spata31d1e A G 13: 59,890,282 (GRCm39) S513P possibly damaging Het
Stard3nl A G 13: 19,556,756 (GRCm39) probably null Het
Stard9 A G 2: 120,531,323 (GRCm39) T2527A probably damaging Het
Sult3a1 C T 10: 33,755,284 (GRCm39) P283L probably damaging Het
Tgtp1 A G 11: 48,877,970 (GRCm39) V245A probably benign Het
Txndc16 T C 14: 45,402,876 (GRCm39) probably benign Het
Zdhhc8 A G 16: 18,042,430 (GRCm39) L590S probably damaging Het
Zfp1005 T A 2: 150,111,220 (GRCm39) C637S possibly damaging Het
Zfp366 A G 13: 99,365,118 (GRCm39) E93G possibly damaging Het
Zfp69 T C 4: 120,788,478 (GRCm39) N279S probably benign Het
Zscan10 T C 17: 23,829,008 (GRCm39) S407P possibly damaging 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
IGL02349:Map3k19 APN 1 127,751,506 (GRCm39) missense possibly damaging 0.48
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
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
Predicted Primers PCR Primer
(F):5'- AACACTAACCTCTTCTGACGCTGC -3'
(R):5'- TAGCCGACCTCTTAGCCAATCTGC -3'

Sequencing Primer
(F):5'- GAATTGCTTTTGGCATCAGGAAC -3'
(R):5'- ACCCTCAGGGGTTCTAACTG -3'
Posted On 2013-10-16