Incidental Mutation 'R3964:Peak1'
| ID |
312257 |
| 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 |
040933-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.365)
|
| Stock # |
R3964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
56108410-56325351 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 56167263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 222
(E222K)
|
| 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: E222K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109901
Gene: ENSMUSG00000074305
AA Change: E222K
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Meta Mutation Damage Score |
0.1695 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (64/65) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
C |
A |
12: 81,607,583 (GRCm39) |
A60S |
possibly damaging |
Het |
| Arpp21 |
C |
G |
9: 111,894,844 (GRCm39) |
V805L |
probably damaging |
Het |
| C1galt1c1 |
A |
T |
X: 37,720,453 (GRCm39) |
V181E |
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,474,187 (GRCm39) |
T686S |
probably benign |
Het |
| Cemip |
T |
A |
7: 83,600,717 (GRCm39) |
Y968F |
probably benign |
Het |
| Cep70 |
T |
A |
9: 99,180,587 (GRCm39) |
F581I |
probably damaging |
Het |
| Ctc1 |
T |
A |
11: 68,921,954 (GRCm39) |
V800D |
probably damaging |
Het |
| Cttnbp2nl |
T |
C |
3: 104,913,321 (GRCm39) |
K188E |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,311,796 (GRCm39) |
V1180A |
probably damaging |
Het |
| Cux2 |
G |
T |
5: 122,025,539 (GRCm39) |
S43* |
probably null |
Het |
| Dhx57 |
T |
A |
17: 80,572,541 (GRCm39) |
K711* |
probably null |
Het |
| Ehbp1l1 |
C |
T |
19: 5,760,601 (GRCm39) |
|
probably null |
Het |
| Esyt3 |
T |
A |
9: 99,202,375 (GRCm39) |
D512V |
probably damaging |
Het |
| Gadl1 |
T |
C |
9: 115,794,676 (GRCm39) |
S284P |
probably damaging |
Het |
| Gm14137 |
T |
A |
2: 119,005,497 (GRCm39) |
S19T |
probably benign |
Het |
| Gpr141b |
A |
G |
13: 19,913,614 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Gsdmc2 |
A |
G |
15: 63,721,683 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,449,320 (GRCm39) |
T110A |
probably benign |
Het |
| Il23r |
G |
A |
6: 67,443,281 (GRCm39) |
T274I |
probably benign |
Het |
| Inhbb |
C |
A |
1: 119,345,291 (GRCm39) |
G333W |
probably damaging |
Het |
| Kcnb1 |
C |
T |
2: 166,946,412 (GRCm39) |
C812Y |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 41,202,482 (GRCm39) |
|
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,755 (GRCm39) |
A118T |
probably benign |
Het |
| Mov10l1 |
A |
G |
15: 88,896,366 (GRCm39) |
I737V |
probably benign |
Het |
| Mrs2 |
A |
G |
13: 25,185,746 (GRCm39) |
I142T |
possibly damaging |
Het |
| Ms4a6b |
T |
C |
19: 11,499,098 (GRCm39) |
S71P |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,286,233 (GRCm39) |
R120H |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,420,705 (GRCm39) |
I4191F |
possibly damaging |
Het |
| Myrf |
T |
C |
19: 10,196,979 (GRCm39) |
E267G |
probably benign |
Het |
| Nfatc2 |
C |
T |
2: 168,346,469 (GRCm39) |
S875N |
probably benign |
Het |
| Nmi |
T |
C |
2: 51,846,081 (GRCm39) |
E67G |
possibly damaging |
Het |
| Nrap |
T |
C |
19: 56,330,576 (GRCm39) |
S1126G |
probably damaging |
Het |
| Nucb2 |
A |
G |
7: 116,128,110 (GRCm39) |
E273G |
probably damaging |
Het |
| Or10g9 |
A |
T |
9: 39,911,767 (GRCm39) |
V252E |
possibly damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,729 (GRCm39) |
T224A |
probably benign |
Het |
| Or8b1b |
T |
C |
9: 38,375,979 (GRCm39) |
I214T |
probably benign |
Het |
| Or8b51 |
G |
A |
9: 38,569,023 (GRCm39) |
L222F |
probably benign |
Het |
| Pcdhga12 |
A |
T |
18: 37,900,254 (GRCm39) |
Q362L |
probably benign |
Het |
| Pik3r1 |
T |
C |
13: 101,825,193 (GRCm39) |
E458G |
possibly damaging |
Het |
| Pls1 |
T |
C |
9: 95,667,665 (GRCm39) |
Q81R |
probably benign |
Het |
| Plxdc2 |
T |
A |
2: 16,665,651 (GRCm39) |
F284I |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,460,648 (GRCm39) |
K1143E |
probably damaging |
Het |
| Ppfia4 |
A |
T |
1: 134,250,754 (GRCm39) |
D478E |
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,978,073 (GRCm39) |
|
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,298,785 (GRCm39) |
I315T |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,497,709 (GRCm39) |
|
probably null |
Het |
| Rnf13 |
G |
A |
3: 57,676,533 (GRCm39) |
G63S |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Shld2 |
T |
A |
14: 33,981,644 (GRCm39) |
Q498L |
probably damaging |
Het |
| Slc50a1 |
T |
C |
3: 89,176,093 (GRCm39) |
I151V |
probably benign |
Het |
| Snx27 |
T |
A |
3: 94,438,613 (GRCm39) |
R207S |
probably damaging |
Het |
| Sos1 |
C |
T |
17: 80,762,608 (GRCm39) |
R73H |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,059,523 (GRCm39) |
E975G |
possibly damaging |
Het |
| Tbccd1 |
A |
G |
16: 22,660,523 (GRCm39) |
S98P |
probably damaging |
Het |
| Timd5 |
T |
A |
11: 46,426,340 (GRCm39) |
V149D |
possibly damaging |
Het |
| Tmx4 |
T |
C |
2: 134,441,981 (GRCm39) |
I206V |
possibly damaging |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Usp19 |
T |
A |
9: 108,375,228 (GRCm39) |
V818E |
probably damaging |
Het |
| Wdr38 |
A |
G |
2: 38,889,362 (GRCm39) |
Y51C |
probably damaging |
Het |
| Zfp456 |
T |
C |
13: 67,514,900 (GRCm39) |
T269A |
probably benign |
Het |
| Zfp628 |
T |
C |
7: 4,924,744 (GRCm39) |
S989P |
probably benign |
Het |
|
| Other mutations in Peak1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- GTTTGCCCTGAAGTTAGCAAAG -3'
(R):5'- CAACAACGGGCTAACTGAAGTG -3'
Sequencing Primer
(F):5'- TTAGCAAAGCGAGGCTGCC -3'
(R):5'- CGGGCTAACTGAAGTGCTAAAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation