Incidental Mutation 'IGL03247:Peak1'
ID 414441
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 # IGL03247
Quality Score
Status
Chromosome 9
Chromosomal Location 56108410-56325351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56165214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 905 (E905K)
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: E905K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: E905K

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 56,007,553 (GRCm39) I926F probably damaging Het
Agap3 A G 5: 24,692,820 (GRCm39) N418D probably damaging Het
Alms1 T C 6: 85,655,579 (GRCm39) V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 (GRCm39) M1L possibly damaging Het
Aox4 A G 1: 58,303,526 (GRCm39) D1188G probably damaging Het
Car2 T A 3: 14,952,999 (GRCm39) L47Q probably damaging Het
Catsper2 A G 2: 121,240,681 (GRCm39) V107A probably benign Het
Catsperg2 T C 7: 29,416,473 (GRCm39) N313S possibly damaging Het
Dolk T C 2: 30,175,523 (GRCm39) Y174C probably damaging Het
Erfe A G 1: 91,298,147 (GRCm39) E219G probably benign Het
Ern2 T C 7: 121,770,894 (GRCm39) E733G probably benign Het
Fam228a A G 12: 4,787,734 (GRCm39) F13S probably damaging Het
Fancd2 T C 6: 113,545,169 (GRCm39) V829A probably benign Het
Gid4 C A 11: 60,323,169 (GRCm39) T87N probably benign Het
H2-Ob A G 17: 34,462,466 (GRCm39) K152R probably benign Het
Ifna2 T A 4: 88,601,614 (GRCm39) T135S probably benign Het
Il1rapl2 G A X: 137,690,429 (GRCm39) G298D probably damaging Het
Mbd1 T A 18: 74,407,825 (GRCm39) L174* probably null Het
Mga T A 2: 119,765,994 (GRCm39) D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 (GRCm39) M54K probably benign Het
Mphosph8 T A 14: 56,916,277 (GRCm39) probably null Het
Mrps23 A G 11: 88,100,922 (GRCm39) probably benign Het
Necab1 C T 4: 14,960,046 (GRCm39) M300I probably benign Het
Nid2 G A 14: 19,829,688 (GRCm39) D660N probably damaging Het
Or2ag12 T A 7: 106,276,754 (GRCm39) H313L probably benign Het
Or9r7 T A 10: 129,962,584 (GRCm39) E114V probably damaging Het
P2ry13 A T 3: 59,117,013 (GRCm39) V255D possibly damaging Het
Picalm C A 7: 89,843,499 (GRCm39) Q550K probably benign Het
Rnf103 T A 6: 71,487,289 (GRCm39) V640E possibly damaging Het
Sec31b T G 19: 44,507,379 (GRCm39) K817N possibly damaging Het
Shisal2a A T 4: 108,225,098 (GRCm39) C155S probably benign Het
Skint2 C A 4: 112,483,223 (GRCm39) H209Q probably benign Het
Skint5 T C 4: 113,798,005 (GRCm39) S193G probably damaging Het
Tacr3 A G 3: 134,635,852 (GRCm39) probably benign Het
Tek A G 4: 94,753,680 (GRCm39) M1041V possibly damaging Het
Tm4sf1 A G 3: 57,200,436 (GRCm39) S89P possibly damaging Het
Tusc3 T A 8: 39,597,931 (GRCm39) N299K possibly damaging Het
Washc4 T C 10: 83,400,327 (GRCm39) S418P probably benign 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
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 2016-08-02