Incidental Mutation 'R4994:Peak1'
ID 385109
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 042588-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.403) question?
Stock # R4994 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 56108410-56325351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56148560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 32 (D32V)
Ref Sequence ENSEMBL: ENSMUSP00000139985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061552] [ENSMUST00000188142]
AlphaFold Q69Z38
Predicted Effect probably benign
Transcript: ENSMUST00000061552
AA Change: D1062V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: D1062V

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: ENSMUST00000185378
Predicted Effect possibly damaging
Transcript: ENSMUST00000188142
AA Change: D32V

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139985
Gene: ENSMUSG00000074305
AA Change: D32V

DomainStartEndE-ValueType
STYKc 288 622 5.5e-4 SMART
Meta Mutation Damage Score 0.0729 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 100% (79/79)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik A G 8: 73,208,962 (GRCm39) E364G probably benign Het
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abcb4 A G 5: 8,978,524 (GRCm39) T557A probably damaging Het
Acadm C T 3: 153,635,221 (GRCm39) E298K probably damaging Het
Adrb3 T C 8: 27,717,855 (GRCm39) probably null Het
Aldh1b1 A G 4: 45,803,128 (GRCm39) Y222C possibly damaging Het
Ankrd6 A G 4: 32,860,387 (GRCm39) Y19H probably damaging Het
Arhgap21 T A 2: 20,854,701 (GRCm39) T1554S probably benign Het
BC043934 T C 9: 96,319,173 (GRCm39) noncoding transcript Het
Birc6 A G 17: 74,901,319 (GRCm39) probably benign Het
Blm A C 7: 80,108,573 (GRCm39) F1357C probably benign Het
Cd209a T C 8: 3,797,713 (GRCm39) probably null Het
Cdk7 G A 13: 100,854,103 (GRCm39) H129Y probably damaging Het
Clec14a G T 12: 58,315,070 (GRCm39) P184Q probably damaging Het
Cma1 T A 14: 56,179,128 (GRCm39) I243F probably damaging Het
Cntnap3 G T 13: 64,909,798 (GRCm39) T769K possibly damaging Het
Col5a1 A C 2: 27,922,751 (GRCm39) K273T possibly damaging Het
Csnk1e A G 15: 79,309,129 (GRCm39) Y266H probably damaging Het
Cyb5d1 A G 11: 69,284,597 (GRCm39) L185S probably damaging Het
Dennd5b T C 6: 148,942,998 (GRCm39) probably null Het
Dipk2a C A 9: 94,419,486 (GRCm39) R148L probably benign Het
Drp2 G A X: 133,342,065 (GRCm39) R567H probably damaging Homo
Dzank1 T G 2: 144,364,486 (GRCm39) D37A probably damaging Het
Echdc2 A G 4: 108,022,825 (GRCm39) I34V probably benign Het
Esm1 A T 13: 113,349,965 (GRCm39) R128S probably benign Het
Fbh1 T A 2: 11,769,041 (GRCm39) I251F probably damaging Het
Fbrsl1 A G 5: 110,595,817 (GRCm39) S73P probably damaging Het
Fbxo6 A T 4: 148,233,948 (GRCm39) S49R probably damaging Het
Gm17093 A T 14: 44,756,779 (GRCm39) Q82L probably damaging Het
Hmcn2 T C 2: 31,348,067 (GRCm39) probably null Het
Hspa4l C A 3: 40,700,081 (GRCm39) probably benign Het
Il3ra G A 14: 14,351,080 (GRCm38) A201T probably benign Het
Irx5 T A 8: 93,087,409 (GRCm39) V447E probably damaging Het
Kif14 G T 1: 136,410,697 (GRCm39) L668F probably damaging Het
Lag3 T A 6: 124,881,416 (GRCm39) R519W unknown Het
Lgr4 A G 2: 109,842,283 (GRCm39) N756S probably damaging Het
Lingo4 T A 3: 94,310,308 (GRCm39) H415Q probably benign Het
Lingo4 A G 3: 94,309,848 (GRCm39) H262R probably benign Het
Lkaaear1 C A 2: 181,339,376 (GRCm39) G25* probably null Het
Maco1 A G 4: 134,555,610 (GRCm39) Y288H probably damaging Het
Marf1 T C 16: 13,932,095 (GRCm39) K1641E probably benign Het
Mtfmt T C 9: 65,351,133 (GRCm39) probably benign Het
Mtif3 G A 5: 146,893,598 (GRCm39) T203M probably benign Het
Mycbp2 A G 14: 103,407,430 (GRCm39) I2740T probably benign Het
Nrdc A G 4: 108,903,809 (GRCm39) T720A probably benign Het
Or2d2 T C 7: 106,728,271 (GRCm39) T110A probably benign Het
Pigr G A 1: 130,769,554 (GRCm39) D122N probably benign Het
Plekhg3 A G 12: 76,612,311 (GRCm39) R391G possibly damaging Het
Ppfia3 T C 7: 44,990,542 (GRCm39) D919G probably damaging Het
Pramel23 T A 4: 143,424,939 (GRCm39) Q168L possibly damaging Het
Rnase2b T A 14: 51,400,208 (GRCm39) D96E possibly damaging Het
Rsf1 CGGCGGC CGGCGGCCGCGGCGGC 7: 97,229,130 (GRCm39) probably benign Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Serpina3f A G 12: 104,186,615 (GRCm39) T394A probably benign Het
Six3 A G 17: 85,928,720 (GRCm39) N18S possibly damaging Het
Slc12a5 T A 2: 164,825,285 (GRCm39) probably null Het
Slc35f6 A G 5: 30,805,427 (GRCm39) N21S probably damaging Het
Slc39a6 A T 18: 24,729,351 (GRCm39) I454N probably damaging Het
Slc40a1 T A 1: 45,948,824 (GRCm39) E485D probably damaging Het
Sort1 G A 3: 108,235,385 (GRCm39) C255Y probably damaging Het
Stab2 T A 10: 86,785,771 (GRCm39) T624S probably benign Het
Stk33 T A 7: 108,939,605 (GRCm39) I99L probably benign Het
Taf4b T A 18: 15,031,100 (GRCm39) I828N probably damaging Het
Terf2 T C 8: 107,803,110 (GRCm39) probably benign Het
Timd4 C T 11: 46,706,344 (GRCm39) R49C probably damaging Het
Tpte T C 8: 22,808,362 (GRCm39) S166P probably benign Het
Trabd2b T C 4: 114,264,052 (GRCm39) L13P probably benign Het
Trappc11 A T 8: 47,975,476 (GRCm39) Y247* probably null Het
Trnt1 C T 6: 106,755,853 (GRCm39) Q303* probably null Het
Tspyl5 T A 15: 33,687,201 (GRCm39) Q248L possibly damaging Het
Ubxn7 A T 16: 32,200,322 (GRCm39) K337N probably damaging Het
Unc13a T A 8: 72,095,816 (GRCm39) I1234F probably benign Het
Vmn1r127 A T 7: 21,052,943 (GRCm39) F282I probably damaging Het
Wdhd1 A T 14: 47,506,111 (GRCm39) probably null Het
Zfp605 A G 5: 110,275,352 (GRCm39) K157E probably damaging Het
Zhx2 T A 15: 57,684,755 (GRCm39) D41E 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
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
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'- GTTACTGTACATAAAGACGCGGC -3'
(R):5'- TGTAGGTTTAATGACCAGGTATGAAGG -3'

Sequencing Primer
(F):5'- AGACGCGGCTTAGGTACTATC -3'
(R):5'- CCAGGTATGAAGGTCTCAGATCC -3'
Posted On 2016-05-10