Incidental Mutation 'R2042:Map4k1'
ID 225066
Institutional Source Beutler Lab
Gene Symbol Map4k1
Ensembl Gene ENSMUSG00000037337
Gene Name mitogen-activated protein kinase kinase kinase kinase 1
Synonyms Hpk1
MMRRC Submission 040049-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2042 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 28681475-28702704 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28683555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 53 (L53P)
Ref Sequence ENSEMBL: ENSMUSP00000146807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066070] [ENSMUST00000085835] [ENSMUST00000207185] [ENSMUST00000207683] [ENSMUST00000208227] [ENSMUST00000208616] [ENSMUST00000208707]
AlphaFold P70218
Predicted Effect probably benign
Transcript: ENSMUST00000066070
SMART Domains Protein: ENSMUSP00000066038
Gene: ENSMUSG00000053565

DomainStartEndE-ValueType
Pfam:CSN8_PSD8_EIF3K 61 200 1.2e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000085835
AA Change: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082995
Gene: ENSMUSG00000037337
AA Change: L99P

DomainStartEndE-ValueType
S_TKc 17 274 3.58e-84 SMART
low complexity region 301 318 N/A INTRINSIC
low complexity region 373 383 N/A INTRINSIC
low complexity region 385 416 N/A INTRINSIC
low complexity region 426 446 N/A INTRINSIC
CNH 506 813 4.93e-106 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000207185
AA Change: L99P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207762
Predicted Effect probably damaging
Transcript: ENSMUST00000208227
AA Change: L53P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208616
Predicted Effect probably benign
Transcript: ENSMUST00000208707
Meta Mutation Damage Score 0.9200 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
MGI Phenotype PHENOTYPE: Homozygous null mice have increased responses of B and T cells. Dendritic cells are also hyperresponsive to stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,210,377 (GRCm39) probably benign Het
Abca16 G A 7: 120,143,941 (GRCm39) R1653Q probably benign Het
Ahnak2 T A 12: 112,749,439 (GRCm39) Y176F probably damaging Het
Ano6 T C 15: 95,853,904 (GRCm39) probably null Het
Atr T C 9: 95,752,075 (GRCm39) L564S probably benign Het
Birc6 C G 17: 74,916,654 (GRCm39) A1774G probably damaging Het
Cacng1 C T 11: 107,595,134 (GRCm39) A148T probably damaging Het
Cd53 T A 3: 106,674,740 (GRCm39) probably null Het
Celsr2 A G 3: 108,309,811 (GRCm39) F1596S probably damaging Het
Cep120 A T 18: 53,868,814 (GRCm39) F122I possibly damaging Het
Ckm A T 7: 19,148,082 (GRCm39) H7L possibly damaging Het
Crybg2 T C 4: 133,814,844 (GRCm39) V1575A possibly damaging Het
Cspp1 A G 1: 10,182,763 (GRCm39) E712G probably damaging Het
Cyp2b23 C A 7: 26,365,533 (GRCm39) R434L probably damaging Het
D630003M21Rik A T 2: 158,057,769 (GRCm39) S570T probably damaging Het
Dmbt1 A G 7: 130,708,089 (GRCm39) I1444V probably damaging Het
Dnah8 T C 17: 30,854,632 (GRCm39) V98A probably benign Het
Dtx1 T G 5: 120,832,541 (GRCm39) N299T probably benign Het
Efr3b T A 12: 4,034,627 (GRCm39) D65V probably damaging Het
Eml4 T C 17: 83,755,607 (GRCm39) C323R probably damaging Het
Eps15 C T 4: 109,161,964 (GRCm39) T31I probably damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbxl8 A T 8: 105,994,856 (GRCm39) I123F probably damaging Het
Fbxw26 T G 9: 109,561,772 (GRCm39) T141P probably damaging Het
Fhip1b G T 7: 105,033,328 (GRCm39) Y629* probably null Het
Glra3 G A 8: 56,515,494 (GRCm39) D190N probably benign Het
Hspg2 T C 4: 137,295,677 (GRCm39) L4229P probably damaging Het
Ipmk C T 10: 71,199,333 (GRCm39) R65W probably damaging Het
Irs2 A G 8: 11,057,580 (GRCm39) I284T probably damaging Het
Klhl22 T C 16: 17,610,284 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,292,851 (GRCm39) D234E probably benign Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Magi1 A T 6: 93,732,026 (GRCm39) N209K probably benign Het
Mak A C 13: 41,202,912 (GRCm39) S179A possibly damaging Het
Map3k4 C A 17: 12,496,870 (GRCm39) R87L probably damaging Het
Melk T C 4: 44,309,051 (GRCm39) probably null Het
Mks1 C T 11: 87,747,494 (GRCm39) probably benign Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
N4bp2 C T 5: 65,983,964 (GRCm39) P1670S probably damaging Het
Ncf1 C G 5: 134,255,494 (GRCm39) Q132H probably benign Het
Nemp1 T C 10: 127,532,203 (GRCm39) S370P possibly damaging Het
Nt5c3b T C 11: 100,327,020 (GRCm39) H92R probably benign Het
Or12j2 T C 7: 139,915,850 (GRCm39) L25P probably damaging Het
Or4p19 G A 2: 88,242,546 (GRCm39) A152V possibly damaging Het
P4ha3 T C 7: 99,949,897 (GRCm39) probably null Het
Pcnx1 C A 12: 81,965,067 (GRCm39) H411Q probably damaging Het
Podxl A G 6: 31,500,051 (GRCm39) V473A possibly damaging Het
Prkd2 T C 7: 16,590,193 (GRCm39) S530P possibly damaging Het
Scin A G 12: 40,127,509 (GRCm39) I427T possibly damaging Het
Sgo2b T C 8: 64,381,561 (GRCm39) T424A probably benign Het
Slc22a2 T C 17: 12,818,012 (GRCm39) I196T probably benign Het
Slc47a2 C A 11: 61,228,908 (GRCm39) V90L probably benign Het
Slc4a7 G A 14: 14,737,386 (GRCm38) V99M probably damaging Het
Spata31f3 C T 4: 42,874,030 (GRCm39) C46Y possibly damaging Het
Sprr2k T C 3: 92,340,763 (GRCm39) probably benign Het
Spta1 G A 1: 174,039,213 (GRCm39) M1185I probably benign Het
Tent5b T C 4: 133,213,924 (GRCm39) V265A possibly damaging Het
Uaca T C 9: 60,777,173 (GRCm39) V518A probably damaging Het
Ubr3 C T 2: 69,808,118 (GRCm39) Q1200* probably null Het
Ufm1 A G 3: 53,766,702 (GRCm39) probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp142 G A 1: 74,609,778 (GRCm39) T1236I probably benign Het
Zfp236 A G 18: 82,651,234 (GRCm39) Y845H probably damaging Het
Zfp747l1 A T 7: 126,984,641 (GRCm39) C154S possibly damaging Het
Zfp787 T C 7: 6,135,763 (GRCm39) K163E possibly damaging Het
Other mutations in Map4k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01538:Map4k1 APN 7 28,701,044 (GRCm39) missense probably damaging 0.98
IGL01936:Map4k1 APN 7 28,688,032 (GRCm39) missense possibly damaging 0.90
IGL02473:Map4k1 APN 7 28,699,297 (GRCm39) missense probably damaging 1.00
IGL02934:Map4k1 APN 7 28,693,531 (GRCm39) missense probably benign 0.00
IGL03180:Map4k1 APN 7 28,687,510 (GRCm39) missense probably damaging 1.00
IGL03199:Map4k1 APN 7 28,682,842 (GRCm39) missense probably damaging 1.00
IGL03493:Map4k1 APN 7 28,683,576 (GRCm39) unclassified probably benign
R0333:Map4k1 UTSW 7 28,699,186 (GRCm39) unclassified probably benign
R1296:Map4k1 UTSW 7 28,697,877 (GRCm39) missense possibly damaging 0.96
R1305:Map4k1 UTSW 7 28,694,890 (GRCm39) missense probably benign
R1519:Map4k1 UTSW 7 28,690,461 (GRCm39) missense probably benign 0.00
R1711:Map4k1 UTSW 7 28,688,777 (GRCm39) missense possibly damaging 0.80
R1842:Map4k1 UTSW 7 28,686,588 (GRCm39) missense probably damaging 1.00
R1851:Map4k1 UTSW 7 28,699,209 (GRCm39) missense probably benign
R2274:Map4k1 UTSW 7 28,701,382 (GRCm39) missense probably damaging 1.00
R2275:Map4k1 UTSW 7 28,701,382 (GRCm39) missense probably damaging 1.00
R4426:Map4k1 UTSW 7 28,688,020 (GRCm39) missense probably damaging 1.00
R4568:Map4k1 UTSW 7 28,686,079 (GRCm39) missense probably damaging 1.00
R4858:Map4k1 UTSW 7 28,688,195 (GRCm39) missense probably damaging 1.00
R4903:Map4k1 UTSW 7 28,682,427 (GRCm39) missense probably benign 0.01
R4964:Map4k1 UTSW 7 28,682,427 (GRCm39) missense probably benign 0.01
R4966:Map4k1 UTSW 7 28,682,427 (GRCm39) missense probably benign 0.01
R5124:Map4k1 UTSW 7 28,688,257 (GRCm39) missense probably damaging 1.00
R5778:Map4k1 UTSW 7 28,693,646 (GRCm39) missense probably benign 0.37
R5786:Map4k1 UTSW 7 28,699,445 (GRCm39) missense probably damaging 1.00
R6343:Map4k1 UTSW 7 28,699,715 (GRCm39) missense possibly damaging 0.76
R6475:Map4k1 UTSW 7 28,686,447 (GRCm39) missense probably damaging 1.00
R6702:Map4k1 UTSW 7 28,701,821 (GRCm39) missense possibly damaging 0.86
R6703:Map4k1 UTSW 7 28,701,821 (GRCm39) missense possibly damaging 0.86
R6856:Map4k1 UTSW 7 28,686,259 (GRCm39) missense probably damaging 1.00
R6870:Map4k1 UTSW 7 28,701,096 (GRCm39) critical splice donor site probably null
R6904:Map4k1 UTSW 7 28,686,227 (GRCm39) missense probably damaging 1.00
R7081:Map4k1 UTSW 7 28,690,574 (GRCm39) missense probably benign
R7572:Map4k1 UTSW 7 28,686,563 (GRCm39) missense probably benign 0.01
R7868:Map4k1 UTSW 7 28,699,387 (GRCm39) critical splice acceptor site probably null
R8034:Map4k1 UTSW 7 28,687,573 (GRCm39) missense probably damaging 1.00
R8054:Map4k1 UTSW 7 28,689,181 (GRCm39) splice site probably benign
R8512:Map4k1 UTSW 7 28,695,583 (GRCm39) missense possibly damaging 0.88
R8686:Map4k1 UTSW 7 28,693,498 (GRCm39) missense probably benign 0.04
R8723:Map4k1 UTSW 7 28,686,542 (GRCm39) missense probably damaging 0.99
R8743:Map4k1 UTSW 7 28,686,542 (GRCm39) missense probably damaging 0.99
R8745:Map4k1 UTSW 7 28,686,542 (GRCm39) missense probably damaging 0.99
R8885:Map4k1 UTSW 7 28,688,862 (GRCm39) missense probably benign 0.00
R8921:Map4k1 UTSW 7 28,701,052 (GRCm39) missense probably damaging 0.96
R9518:Map4k1 UTSW 7 28,693,496 (GRCm39) missense probably benign 0.00
Z1177:Map4k1 UTSW 7 28,699,433 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTCTGGAATACACACTTCCTGG -3'
(R):5'- TTATTGCCCAGGAAAAGACAGG -3'

Sequencing Primer
(F):5'- GGAATACACACTTCCTGGCTATC -3'
(R):5'- GACAGGCAAGACCCACAGG -3'
Posted On 2014-08-25