Incidental Mutation 'IGL01885:Peak1'
ID 179086
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Peak1
Ensembl Gene ENSMUSG00000074305
Gene Name pseudopodium-enriched atypical kinase 1
Synonyms 1110049L02Rik, C230081A13Rik, NKF3 kinase family member
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # IGL01885
Quality Score
Status
Chromosome 9
Chromosomal Location 56108410-56325351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56167388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 180 (R180K)
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: R180K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: R180K

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,774,575 (GRCm39) V568A possibly damaging Het
Abcb11 T A 2: 69,117,971 (GRCm39) Q469L probably damaging Het
Ahsg G A 16: 22,717,731 (GRCm39) G264E probably damaging Het
Ankar T C 1: 72,697,862 (GRCm39) Y788C probably damaging Het
Birc6 T A 17: 74,911,511 (GRCm39) F1508I possibly damaging Het
Cd6 C A 19: 10,776,601 (GRCm39) Q141H probably benign Het
Cercam A C 2: 29,771,015 (GRCm39) T471P probably damaging Het
Cux1 T C 5: 136,337,301 (GRCm39) D729G possibly damaging Het
Dglucy T A 12: 100,816,540 (GRCm39) F394Y probably damaging Het
E130308A19Rik A G 4: 59,720,004 (GRCm39) N512S probably benign Het
Ephb4 T C 5: 137,356,059 (GRCm39) C223R probably damaging Het
Gcn1 T A 5: 115,714,174 (GRCm39) probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hirip3 T A 7: 126,463,381 (GRCm39) S446T probably benign Het
Hoxa5 A T 6: 52,179,647 (GRCm39) F243I probably damaging Het
Iars1 T C 13: 49,844,975 (GRCm39) V162A probably benign Het
Lama2 G A 10: 26,981,135 (GRCm39) R1840* probably null Het
Lbp T A 2: 158,166,493 (GRCm39) L349Q probably damaging Het
Lrp4 T C 2: 91,331,452 (GRCm39) I1604T probably benign Het
Mapk10 T C 5: 103,144,455 (GRCm39) K121E probably damaging Het
Nav3 T A 10: 109,578,521 (GRCm39) R1579* probably null Het
Obscn T C 11: 58,965,794 (GRCm39) D652G possibly damaging Het
Or10x1 A G 1: 174,196,967 (GRCm39) I161M probably damaging Het
Or5b117 G A 19: 13,431,449 (GRCm39) T144I probably benign Het
Or7g30 A G 9: 19,352,760 (GRCm39) I184V probably benign Het
Ostm1 C T 10: 42,574,147 (GRCm39) S280L possibly damaging Het
Plcz1 T C 6: 139,947,837 (GRCm39) Y515C probably benign Het
Postn T C 3: 54,283,455 (GRCm39) probably benign Het
Ptchd4 C T 17: 42,814,493 (GRCm39) T798I probably damaging Het
Rnf41 A T 10: 128,271,344 (GRCm39) N85Y probably damaging Het
Shisa7 A T 7: 4,833,825 (GRCm39) H323Q probably damaging Het
Slco2a1 T A 9: 102,951,629 (GRCm39) M386K probably damaging Het
St18 G A 1: 6,914,596 (GRCm39) probably null Het
Stra6 T A 9: 58,048,431 (GRCm39) L175M probably damaging Het
Tmem67 A G 4: 12,057,389 (GRCm39) L600P probably damaging Het
Try5 G T 6: 41,288,672 (GRCm39) N182K possibly damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo7 G A 14: 70,903,475 (GRCm39) T1078I probably benign Het
Zan G A 5: 137,462,386 (GRCm39) T931I unknown 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
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
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
Posted On 2014-05-07