Incidental Mutation 'R8516:Peak1'
ID 656157
Institutional Source Beutler Lab
Gene Symbol Peak1
Ensembl Gene ENSMUSG00000074305
Gene Name pseudopodium-enriched atypical kinase 1
Synonyms 1110049L02Rik, C230081A13Rik, NKF3 kinase family member
MMRRC Submission 067848-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R8516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 56108410-56325351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56167284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 215 (S215G)
Ref Sequence ENSEMBL: ENSMUSP00000109901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061552] [ENSMUST00000186735]
AlphaFold Q69Z38
Predicted Effect probably damaging
Transcript: ENSMUST00000061552
AA Change: S215G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: S215G

DomainStartEndE-ValueType
low complexity region 247 259 N/A INTRINSIC
low complexity region 325 336 N/A INTRINSIC
low complexity region 367 378 N/A INTRINSIC
low complexity region 498 509 N/A INTRINSIC
low complexity region 845 856 N/A INTRINSIC
low complexity region 860 878 N/A INTRINSIC
low complexity region 932 948 N/A INTRINSIC
Pfam:Pkinase_Tyr 1437 1649 1.5e-6 PFAM
Pfam:Pkinase 1440 1651 2.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186735
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a non-receptor tyrosine kinase that is a member of the new kinase family three (NFK3) family. In migrating cells, the encoded protein is associated with the actin cytoskeleton and focal adhesions and promotes developing focal adhesion elongation. This protein may play a role in the regulation of cell migration, proliferation and cancer metastasis. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdhppt A T 9: 4,309,373 (GRCm39) S22T probably benign Het
Acte1 T A 7: 143,451,011 (GRCm39) I342N probably damaging Het
Actr8 G T 14: 29,712,856 (GRCm39) A500S probably benign Het
Adamtsl1 A G 4: 86,260,780 (GRCm39) Y1005C probably damaging Het
Ank3 T A 10: 69,763,559 (GRCm39) Y884* probably null Het
Arhgap28 T C 17: 68,180,068 (GRCm39) R306G probably benign Het
Atp8a2 A C 14: 59,928,921 (GRCm39) I1044M probably benign Het
Bahd1 A G 2: 118,747,452 (GRCm39) Y357C probably benign Het
Btd A T 14: 31,388,824 (GRCm39) T182S probably damaging Het
Casc3 C T 11: 98,713,607 (GRCm39) R280C probably damaging Het
Cisd2 T C 3: 135,116,774 (GRCm39) T106A probably damaging Het
Cldn15 G T 5: 137,003,550 (GRCm39) C184F probably damaging Het
Clk4 G A 11: 51,166,088 (GRCm39) R198Q probably damaging Het
Coprs G T 8: 13,935,065 (GRCm39) F163L probably damaging Het
Csmd3 G A 15: 47,492,761 (GRCm39) R2216* probably null Het
Defb7 A T 8: 19,547,623 (GRCm39) I43F possibly damaging Het
Dpp8 C A 9: 64,985,291 (GRCm39) T783K probably damaging Het
Eif2s1 G A 12: 78,927,936 (GRCm39) G204D probably damaging Het
Elavl4 T C 4: 110,108,576 (GRCm39) N56S probably damaging Het
Emilin1 G A 5: 31,074,515 (GRCm39) R252H probably damaging Het
Exd1 A T 2: 119,350,554 (GRCm39) L569Q probably damaging Het
Gpn2 C T 4: 133,312,142 (GRCm39) R125C probably damaging Het
Gria2 T C 3: 80,614,294 (GRCm39) E582G probably benign Het
Hadha A T 5: 30,331,582 (GRCm39) V458E probably damaging Het
Hap1 T C 11: 100,246,893 (GRCm39) K4R possibly damaging Het
Hectd4 A T 5: 121,487,073 (GRCm39) H3356L possibly damaging Het
Herc2 G A 7: 55,856,318 (GRCm39) V3919I probably benign Het
Lgr6 G T 1: 135,003,021 (GRCm39) N76K probably damaging Het
Or52w1 A G 7: 105,017,976 (GRCm39) I148V probably benign Het
P4ha3 A G 7: 99,963,869 (GRCm39) M462V probably damaging Het
Pde3b A T 7: 114,126,084 (GRCm39) M773L probably benign Het
Pgm5 T A 19: 24,793,074 (GRCm39) M331L probably benign Het
Piwil2 A G 14: 70,658,188 (GRCm39) V213A probably benign Het
Plch2 T C 4: 155,070,764 (GRCm39) H1205R probably benign Het
Pop4 A T 7: 37,966,826 (GRCm39) M85K probably benign Het
Ppp3ca T A 3: 136,583,529 (GRCm39) I212N probably damaging Het
Prom1 T C 5: 44,164,441 (GRCm39) K714R probably benign Het
Psip1 C T 4: 83,384,952 (GRCm39) G207S probably benign Het
Rgs22 A G 15: 36,010,481 (GRCm39) *1259Q probably null Het
Scn1a C T 2: 66,156,478 (GRCm39) G477D possibly damaging Het
Sf3b1 T C 1: 55,051,262 (GRCm39) E222G probably null Het
Snrpa1 G A 7: 65,720,381 (GRCm39) G195R probably benign Het
Spem2 T C 11: 69,707,721 (GRCm39) R415G possibly damaging Het
Tmem167 T A 13: 90,246,515 (GRCm39) V13E probably damaging Het
Trim2 C T 3: 84,115,627 (GRCm39) A102T probably damaging Het
Trim30b A G 7: 104,006,611 (GRCm39) S82P probably benign Het
Uba6 A C 5: 86,275,607 (GRCm39) S760R possibly damaging Het
Upf2 T C 2: 6,023,782 (GRCm39) F711L unknown Het
Utrn T A 10: 12,362,254 (GRCm39) D2693V probably damaging Het
Vmn1r30 T G 6: 58,412,109 (GRCm39) Y241S probably damaging Het
Vmn2r110 A G 17: 20,794,875 (GRCm39) L598P probably damaging Het
Wfdc18 T A 11: 83,599,984 (GRCm39) F14Y probably benign Het
Wnt10b A T 15: 98,670,761 (GRCm39) C256S probably damaging Het
Xrn1 T A 9: 95,930,444 (GRCm39) Y1554* probably null Het
Zc3h12a T A 4: 125,013,632 (GRCm39) S411C probably damaging Het
Zfp112 G A 7: 23,823,389 (GRCm39) G63E probably benign Het
Zfp786 A T 6: 47,797,477 (GRCm39) L487Q probably damaging Het
Zfp953 T A 13: 67,493,419 (GRCm39) Y75F possibly damaging Het
Other mutations in Peak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Peak1 APN 9 56,134,610 (GRCm39) missense probably damaging 1.00
IGL00544:Peak1 APN 9 56,167,262 (GRCm39) missense probably damaging 1.00
IGL01141:Peak1 APN 9 56,165,811 (GRCm39) missense probably benign 0.01
IGL01743:Peak1 APN 9 56,166,486 (GRCm39) missense probably damaging 1.00
IGL01781:Peak1 APN 9 56,167,349 (GRCm39) missense possibly damaging 0.92
IGL01885:Peak1 APN 9 56,167,388 (GRCm39) missense probably damaging 1.00
IGL01941:Peak1 APN 9 56,166,059 (GRCm39) missense probably damaging 1.00
IGL02455:Peak1 APN 9 56,134,757 (GRCm39) missense possibly damaging 0.89
IGL02719:Peak1 APN 9 56,134,490 (GRCm39) missense probably damaging 1.00
IGL03247:Peak1 APN 9 56,165,214 (GRCm39) missense probably damaging 1.00
IGL03259:Peak1 APN 9 56,167,251 (GRCm39) missense probably damaging 1.00
R0060:Peak1 UTSW 9 56,135,107 (GRCm39) missense probably damaging 1.00
R0087:Peak1 UTSW 9 56,165,609 (GRCm39) missense probably damaging 1.00
R0480:Peak1 UTSW 9 56,165,916 (GRCm39) missense probably benign 0.00
R0569:Peak1 UTSW 9 56,167,373 (GRCm39) missense probably damaging 1.00
R0605:Peak1 UTSW 9 56,134,382 (GRCm39) splice site probably benign
R0865:Peak1 UTSW 9 56,165,116 (GRCm39) missense probably benign 0.02
R1117:Peak1 UTSW 9 56,165,702 (GRCm39) missense probably benign 0.05
R1922:Peak1 UTSW 9 56,113,971 (GRCm39) missense probably damaging 1.00
R1959:Peak1 UTSW 9 56,114,073 (GRCm39) missense probably damaging 1.00
R2069:Peak1 UTSW 9 56,166,043 (GRCm39) missense probably damaging 1.00
R2083:Peak1 UTSW 9 56,166,233 (GRCm39) missense probably damaging 1.00
R2154:Peak1 UTSW 9 56,114,496 (GRCm39) missense probably damaging 1.00
R2407:Peak1 UTSW 9 56,166,510 (GRCm39) missense probably damaging 1.00
R3832:Peak1 UTSW 9 56,165,667 (GRCm39) missense probably benign
R3938:Peak1 UTSW 9 56,167,649 (GRCm39) missense probably benign 0.01
R3964:Peak1 UTSW 9 56,167,263 (GRCm39) missense probably damaging 1.00
R4192:Peak1 UTSW 9 56,166,025 (GRCm39) missense probably damaging 1.00
R4381:Peak1 UTSW 9 56,165,711 (GRCm39) missense probably benign 0.34
R4869:Peak1 UTSW 9 56,134,876 (GRCm39) missense probably benign 0.06
R4994:Peak1 UTSW 9 56,148,560 (GRCm39) missense possibly damaging 0.65
R5062:Peak1 UTSW 9 56,167,573 (GRCm39) missense probably damaging 1.00
R5435:Peak1 UTSW 9 56,113,770 (GRCm39) missense probably damaging 0.98
R5632:Peak1 UTSW 9 56,165,058 (GRCm39) missense probably damaging 1.00
R5643:Peak1 UTSW 9 56,166,039 (GRCm39) missense probably damaging 0.99
R5880:Peak1 UTSW 9 56,114,894 (GRCm39) missense probably damaging 1.00
R5898:Peak1 UTSW 9 56,114,622 (GRCm39) missense probably benign 0.19
R5986:Peak1 UTSW 9 56,166,726 (GRCm39) missense probably benign 0.00
R6109:Peak1 UTSW 9 56,166,567 (GRCm39) missense probably benign 0.01
R6284:Peak1 UTSW 9 56,167,580 (GRCm39) missense probably benign 0.10
R6347:Peak1 UTSW 9 56,165,495 (GRCm39) missense probably benign 0.00
R6374:Peak1 UTSW 9 56,164,950 (GRCm39) missense probably damaging 1.00
R6471:Peak1 UTSW 9 56,165,543 (GRCm39) missense probably damaging 1.00
R6717:Peak1 UTSW 9 56,114,523 (GRCm39) missense probably benign 0.00
R7033:Peak1 UTSW 9 56,166,991 (GRCm39) missense probably damaging 1.00
R7039:Peak1 UTSW 9 56,165,093 (GRCm39) missense probably benign 0.01
R7100:Peak1 UTSW 9 56,166,677 (GRCm39) missense probably damaging 1.00
R7604:Peak1 UTSW 9 56,148,491 (GRCm39) nonsense probably null
R7868:Peak1 UTSW 9 56,167,754 (GRCm39) missense probably damaging 1.00
R7979:Peak1 UTSW 9 56,114,676 (GRCm39) missense possibly damaging 0.52
R8258:Peak1 UTSW 9 56,166,677 (GRCm39) missense probably damaging 1.00
R8259:Peak1 UTSW 9 56,166,677 (GRCm39) missense probably damaging 1.00
R8272:Peak1 UTSW 9 56,166,182 (GRCm39) missense probably damaging 1.00
R8324:Peak1 UTSW 9 56,114,760 (GRCm39) missense probably damaging 1.00
R8847:Peak1 UTSW 9 56,114,427 (GRCm39) missense probably damaging 1.00
R8895:Peak1 UTSW 9 56,113,938 (GRCm39) missense probably benign
R9082:Peak1 UTSW 9 56,165,504 (GRCm39) missense probably benign 0.07
R9138:Peak1 UTSW 9 56,164,925 (GRCm39) missense probably benign 0.34
R9355:Peak1 UTSW 9 56,167,454 (GRCm39) missense probably damaging 1.00
R9548:Peak1 UTSW 9 56,113,917 (GRCm39) missense probably benign 0.19
R9591:Peak1 UTSW 9 56,166,834 (GRCm39) missense possibly damaging 0.48
R9642:Peak1 UTSW 9 56,167,205 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGTTTGCCCTGAAGTTAGC -3'
(R):5'- CAACAACGGGCTAACTGAAGTG -3'

Sequencing Primer
(F):5'- GTTTGCCCTGAAGTTAGCAAAGC -3'
(R):5'- CGGGCTAACTGAAGTGCTAAAG -3'
Posted On 2020-10-20