Incidental Mutation 'R0087:Peak1'
ID 19958
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 038374-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 9
Chromosomal Location 56108410-56325351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56165609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 773 (I773N)
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: I773N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: I773N

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 noncoding transcript
Transcript: ENSMUST00000181444
Predicted Effect probably benign
Transcript: ENSMUST00000186735
Meta Mutation Damage Score 0.1057 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Degs1 A G 1: 182,106,875 (GRCm39) I128T probably benign Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N probably 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
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
R8516:Peak1 UTSW 9 56,167,284 (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'- TCACCTTCCCCACTAGACTGAGATG -3'
(R):5'- TCCCCAAGCTAAAGGGTTTTCCAAC -3'

Sequencing Primer
(F):5'- TCCCCACTAGACTGAGATGTAAAAAG -3'
(R):5'- TTGTCTCAACAGAGGTCAGTC -3'
Posted On 2013-04-11