Incidental Mutation 'IGL01743:Peak1'
ID152927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Peak1
Ensembl Gene ENSMUSG00000074305
Gene Namepseudopodium-enriched atypical kinase 1
SynonymsC230081A13Rik, NKF3 kinase family member, 1110049L02Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.489) question?
Stock #IGL01743
Quality Score
Status
Chromosome9
Chromosomal Location56201126-56418067 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 56259202 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 481 (V481L)
Ref Sequence ENSEMBL: ENSMUSP00000109901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061552] [ENSMUST00000186735]
Predicted Effect probably damaging
Transcript: ENSMUST00000061552
AA Change: V481L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: V481L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192330
Coding Region Coverage
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik G T 8: 3,364,697 C25F probably benign Het
Abcc6 A T 7: 45,996,814 N750K probably benign Het
Ackr2 T C 9: 121,909,500 C314R probably benign Het
Adar C T 3: 89,745,440 Q210* probably null Het
Aifm1 A G X: 48,480,276 probably benign Het
Aldoa G T 7: 126,796,703 D198E probably damaging Het
Ampd1 T A 3: 103,094,885 probably benign Het
Btnl1 T C 17: 34,385,685 I480T probably damaging Het
Capn9 T C 8: 124,591,769 S125P probably benign Het
Cd40lg T A X: 57,212,232 Y26* probably null Het
Cdc42bpg G T 19: 6,309,823 probably null Het
Cdh10 T C 15: 18,986,769 L362P probably benign Het
Dhx16 A G 17: 35,888,108 D782G probably damaging Het
Dnajb14 G T 3: 137,906,000 V320L possibly damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Ercc6 T C 14: 32,552,604 V568A probably damaging Het
Faf2 T C 13: 54,641,498 probably null Het
Fbrsl1 C T 5: 110,381,640 V223M probably damaging Het
Fcrl5 T C 3: 87,444,291 V282A probably damaging Het
Fxr2 C T 11: 69,652,622 L650F possibly damaging Het
Gabrq A G X: 72,836,842 M314V probably benign Het
Gnas T A 2: 174,298,332 Y157* probably null Het
Gtf2i T C 5: 134,286,893 E175G probably damaging Het
Gtf3c1 A C 7: 125,663,415 Y1091D probably damaging Het
Heatr5b G A 17: 78,824,640 Q345* probably null Het
Hydin T C 8: 110,592,776 V4437A possibly damaging Het
Idi2 T A 13: 8,958,542 L112Q probably damaging Het
Ift80 C T 3: 68,962,296 V221M probably benign Het
Il16 A G 7: 83,652,299 F205S probably benign Het
Irf1 T A 11: 53,774,451 M218K probably benign Het
Itga8 T C 2: 12,265,333 N114S probably benign Het
Itgae T C 11: 73,111,759 V114A probably benign Het
Klhdc10 A G 6: 30,441,934 probably null Het
Krt78 C A 15: 101,950,898 R288L probably benign Het
Lars2 A T 9: 123,453,248 L632F probably damaging Het
Mpdz T C 4: 81,317,682 D1220G probably damaging Het
Msl1 C T 11: 98,805,419 T597I probably damaging Het
Mtor T C 4: 148,530,613 probably benign Het
Myo1b T C 1: 51,782,020 T435A probably damaging Het
Neb A G 2: 52,225,667 Y4176H probably damaging Het
Nxpe3 A G 16: 55,849,765 F326L probably benign Het
Olfr532 T C 7: 140,419,668 Y35C probably damaging Het
Olfr705 A G 7: 106,714,334 S116P possibly damaging Het
Pak7 T A 2: 136,087,413 R617W probably damaging Het
Pik3ap1 G A 19: 41,292,828 probably benign Het
Pmm1 C T 15: 81,960,786 E6K probably benign Het
Ppp2r5c G A 12: 110,580,434 V454M probably benign Het
Ptprf C T 4: 118,248,898 probably null Het
Pygm G A 19: 6,392,994 probably null Het
Rimbp2 T A 5: 128,797,848 probably benign Het
Rps6ka5 A T 12: 100,575,633 probably null Het
Scarb2 A G 5: 92,460,803 V188A probably benign Het
Sfrp1 T A 8: 23,412,338 probably benign Het
Siglec15 T A 18: 78,043,605 probably benign Het
Smgc A G 15: 91,854,593 I485V probably benign Het
Tas2r124 A G 6: 132,754,835 I36V probably benign Het
Trmt10b G T 4: 45,305,879 G185W probably damaging Het
Ttll4 A G 1: 74,688,193 N798S possibly damaging Het
Ttn G T 2: 76,789,552 T15924N probably damaging Het
Utrn A T 10: 12,711,557 Y912N possibly damaging Het
Vmn2r113 T C 17: 22,958,311 Y690H probably benign Het
Vmn2r51 T C 7: 10,100,227 R295G probably damaging Het
Vpreb3 A G 10: 75,948,397 T14A probably benign Het
Other mutations in Peak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Peak1 APN 9 56227326 missense probably damaging 1.00
IGL00544:Peak1 APN 9 56259978 missense probably damaging 1.00
IGL01141:Peak1 APN 9 56258527 missense probably benign 0.01
IGL01781:Peak1 APN 9 56260065 missense possibly damaging 0.92
IGL01885:Peak1 APN 9 56260104 missense probably damaging 1.00
IGL01941:Peak1 APN 9 56258775 missense probably damaging 1.00
IGL02455:Peak1 APN 9 56227473 missense possibly damaging 0.89
IGL02719:Peak1 APN 9 56227206 missense probably damaging 1.00
IGL03247:Peak1 APN 9 56257930 missense probably damaging 1.00
IGL03259:Peak1 APN 9 56259967 missense probably damaging 1.00
R0060:Peak1 UTSW 9 56227823 missense probably damaging 1.00
R0087:Peak1 UTSW 9 56258325 missense probably damaging 1.00
R0480:Peak1 UTSW 9 56258632 missense probably benign 0.00
R0569:Peak1 UTSW 9 56260089 missense probably damaging 1.00
R0605:Peak1 UTSW 9 56227098 splice site probably benign
R0865:Peak1 UTSW 9 56257832 missense probably benign 0.02
R1117:Peak1 UTSW 9 56258418 missense probably benign 0.05
R1922:Peak1 UTSW 9 56206687 missense probably damaging 1.00
R1959:Peak1 UTSW 9 56206789 missense probably damaging 1.00
R2069:Peak1 UTSW 9 56258759 missense probably damaging 1.00
R2083:Peak1 UTSW 9 56258949 missense probably damaging 1.00
R2154:Peak1 UTSW 9 56207212 missense probably damaging 1.00
R2407:Peak1 UTSW 9 56259226 missense probably damaging 1.00
R3832:Peak1 UTSW 9 56258383 missense probably benign
R3938:Peak1 UTSW 9 56260365 missense probably benign 0.01
R3964:Peak1 UTSW 9 56259979 missense probably damaging 1.00
R4192:Peak1 UTSW 9 56258741 missense probably damaging 1.00
R4381:Peak1 UTSW 9 56258427 missense probably benign 0.34
R4869:Peak1 UTSW 9 56227592 missense probably benign 0.06
R4994:Peak1 UTSW 9 56241276 missense possibly damaging 0.65
R5062:Peak1 UTSW 9 56260289 missense probably damaging 1.00
R5435:Peak1 UTSW 9 56206486 missense probably damaging 0.98
R5632:Peak1 UTSW 9 56257774 missense probably damaging 1.00
R5643:Peak1 UTSW 9 56258755 missense probably damaging 0.99
R5880:Peak1 UTSW 9 56207610 missense probably damaging 1.00
R5898:Peak1 UTSW 9 56207338 missense probably benign 0.19
R5986:Peak1 UTSW 9 56259442 missense probably benign 0.00
R6109:Peak1 UTSW 9 56259283 missense probably benign 0.01
R6284:Peak1 UTSW 9 56260296 missense probably benign 0.10
R6347:Peak1 UTSW 9 56258211 missense probably benign 0.00
R6374:Peak1 UTSW 9 56257666 missense probably damaging 1.00
R6471:Peak1 UTSW 9 56258259 missense probably damaging 1.00
R6717:Peak1 UTSW 9 56207239 missense probably benign 0.00
R7033:Peak1 UTSW 9 56259707 missense probably damaging 1.00
R7039:Peak1 UTSW 9 56257809 missense probably benign 0.01
R7100:Peak1 UTSW 9 56259393 missense probably damaging 1.00
R7604:Peak1 UTSW 9 56241207 nonsense probably null
Posted On2014-02-04