Incidental Mutation 'R8136:Map3k19'
ID 632240
Institutional Source Beutler Lab
Gene Symbol Map3k19
Ensembl Gene ENSMUSG00000051590
Gene Name mitogen-activated protein kinase kinase kinase 19
Synonyms Ysk4
MMRRC Submission 067564-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R8136 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 127742528-127782768 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 127751492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 620 (S620A)
Ref Sequence ENSEMBL: ENSMUSP00000146463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061512] [ENSMUST00000208183]
AlphaFold E9Q3S4
Predicted Effect probably damaging
Transcript: ENSMUST00000061512
AA Change: S416A

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056254
Gene: ENSMUSG00000051590
AA Change: S416A

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
SMART Domains Protein: ENSMUSP00000140930
Gene: ENSMUSG00000051590
AA Change: S315A

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 damaging
Transcript: ENSMUST00000208183
AA Change: S620A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.7%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,287,556 (GRCm39) M2462L probably benign Het
Aptx A G 4: 40,688,107 (GRCm39) probably null Het
Bmpr1b A G 3: 141,562,143 (GRCm39) I348T probably damaging Het
Btnl1 T A 17: 34,599,014 (GRCm39) probably null Het
Col27a1 T A 4: 63,202,190 (GRCm39) D960E probably benign Het
Crygn G T 5: 24,956,090 (GRCm39) R172S probably benign Het
Cyp26a1 T C 19: 37,689,654 (GRCm39) I450T probably benign Het
Emc2 A G 15: 43,375,202 (GRCm39) Y233C probably benign Het
Esyt2 C A 12: 116,327,079 (GRCm39) T549K probably benign Het
Garin5a T C 7: 44,149,704 (GRCm39) F142L probably damaging Het
Gatm T C 2: 122,426,018 (GRCm39) D411G probably damaging Het
Gpr65 T C 12: 98,241,415 (GRCm39) Y23H probably damaging Het
Itpr1 A G 6: 108,415,321 (GRCm39) R1752G probably benign Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,518,660 (GRCm39) probably benign Het
Mcm9 A G 10: 53,487,439 (GRCm39) *543Q probably null Het
Mfsd2a A T 4: 122,845,660 (GRCm39) C164S probably benign Het
Mta1 C A 12: 113,095,298 (GRCm39) R484S probably damaging Het
Nlrp9a T G 7: 26,256,678 (GRCm39) F99V probably benign Het
Notch2 G A 3: 98,031,537 (GRCm39) C1137Y probably damaging Het
Or51a6 A T 7: 102,604,448 (GRCm39) M120K probably damaging Het
Pcnx1 A G 12: 81,964,780 (GRCm39) T316A probably benign Het
Peds1 A C 2: 167,486,879 (GRCm39) Y167D probably benign Het
Phf11a A G 14: 59,515,018 (GRCm39) V221A probably benign Het
Pigb A G 9: 72,929,602 (GRCm39) L327P possibly damaging Het
Rab3c A T 13: 110,317,554 (GRCm39) Y110* probably null Het
Sdk2 G A 11: 113,742,539 (GRCm39) T790M probably damaging Het
Skic3 A G 13: 76,261,222 (GRCm39) K131R probably benign Het
Slc22a2 C T 17: 12,824,917 (GRCm39) P260S probably damaging Het
Sppl2a T C 2: 126,755,201 (GRCm39) probably null Het
Tnn T A 1: 159,934,630 (GRCm39) Q1261L probably damaging Het
Treml4 C A 17: 48,571,745 (GRCm39) Y49* probably null Het
Ubr3 T C 2: 69,851,523 (GRCm39) I1827T probably damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Wls C A 3: 159,578,761 (GRCm39) Q108K probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp39 A T 11: 58,782,228 (GRCm39) V178D probably damaging Het
Zfp777 C A 6: 48,021,559 (GRCm39) R21L 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
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
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
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'- ACCACCCCATTCATTTCGGG -3'
(R):5'- GACACTACTCCTACAGAGAGGG -3'

Sequencing Primer
(F):5'- ACCCCATTCATTTCGGGATTTG -3'
(R):5'- GAGAGGACTCCCAATATCTTTCATC -3'
Posted On 2020-06-30