Incidental Mutation 'R5683:Pak6'
| ID |
443171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pak6
|
| Ensembl Gene |
ENSMUSG00000074923 |
| Gene Name |
p21 (RAC1) activated kinase 6 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5683 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
118493784-118528501 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 118524393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 469
(Y469N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099557]
[ENSMUST00000110853]
|
| AlphaFold |
Q3ULB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099557
AA Change: Y469N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097153
Gene: ENSMUSG00000074923
AA Change: Y469N
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
12 |
47 |
4.47e-11 |
SMART |
|
S_TKc
|
408 |
659 |
2.38e-89 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110853
AA Change: Y469N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106477
Gene: ENSMUSG00000074923
AA Change: Y469N
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
12 |
47 |
4.47e-11 |
SMART |
|
S_TKc
|
408 |
659 |
2.38e-89 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132577
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele do not exhibit any abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
C |
11: 72,093,266 (GRCm39) |
M22R |
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,961,482 (GRCm39) |
E397G |
probably damaging |
Het |
| Actrt3 |
A |
T |
3: 30,652,427 (GRCm39) |
D222E |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,750,018 (GRCm39) |
S790T |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,566,369 (GRCm39) |
D1113E |
probably benign |
Het |
| Arl2 |
C |
A |
19: 6,184,794 (GRCm39) |
R153L |
probably benign |
Het |
| B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
| Ccdc138 |
C |
A |
10: 58,376,641 (GRCm39) |
Q425K |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,263,179 (GRCm39) |
K143N |
probably benign |
Het |
| Cd200r4 |
T |
A |
16: 44,653,311 (GRCm39) |
I73K |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,684,030 (GRCm39) |
K94E |
possibly damaging |
Het |
| Cmtm2a |
T |
C |
8: 105,019,676 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Fnbp4 |
C |
A |
2: 90,583,206 (GRCm39) |
N277K |
probably damaging |
Het |
| Htr7 |
C |
A |
19: 35,947,271 (GRCm39) |
A248S |
probably damaging |
Het |
| Itsn1 |
T |
C |
16: 91,702,268 (GRCm39) |
Y37H |
probably benign |
Het |
| Kdm8 |
A |
G |
7: 125,054,345 (GRCm39) |
Y16C |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,306,718 (GRCm39) |
Y881N |
probably damaging |
Het |
| Lhcgr |
C |
T |
17: 89,079,447 (GRCm39) |
V80I |
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,009,236 (GRCm39) |
L1082F |
probably damaging |
Het |
| Met |
A |
G |
6: 17,571,743 (GRCm39) |
Y1354C |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,536,007 (GRCm39) |
L2859P |
possibly damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,044,843 (GRCm39) |
M279K |
possibly damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,052,697 (GRCm39) |
I872T |
probably damaging |
Het |
| Npnt |
A |
T |
3: 132,612,601 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
G |
A |
13: 55,393,961 (GRCm39) |
V521I |
probably benign |
Het |
| Or2n1e |
G |
A |
17: 38,586,437 (GRCm39) |
M258I |
possibly damaging |
Het |
| Parp4 |
C |
T |
14: 56,884,886 (GRCm39) |
R1322* |
probably null |
Het |
| Pax6 |
T |
C |
2: 105,516,252 (GRCm39) |
Y177H |
probably benign |
Het |
| Pcdhb4 |
A |
T |
18: 37,442,042 (GRCm39) |
T451S |
probably benign |
Het |
| Pcdhgb5 |
A |
T |
18: 37,864,907 (GRCm39) |
D234V |
probably damaging |
Het |
| Pramel11 |
A |
G |
4: 143,622,423 (GRCm39) |
S311P |
probably damaging |
Het |
| Ralb |
G |
A |
1: 119,403,686 (GRCm39) |
A147V |
possibly damaging |
Het |
| Rgs11 |
A |
G |
17: 26,424,155 (GRCm39) |
K196E |
probably benign |
Het |
| Rnft1 |
A |
T |
11: 86,382,616 (GRCm39) |
T280S |
probably benign |
Het |
| Slco4c1 |
G |
T |
1: 96,795,559 (GRCm39) |
H166Q |
probably damaging |
Het |
| Sycp3 |
T |
C |
10: 88,308,797 (GRCm39) |
S248P |
probably damaging |
Het |
| Tab2 |
A |
G |
10: 7,794,876 (GRCm39) |
|
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,980,875 (GRCm39) |
M224T |
probably damaging |
Het |
| Topbp1 |
A |
T |
9: 103,190,003 (GRCm39) |
E193V |
possibly damaging |
Het |
| Trim36 |
T |
C |
18: 46,302,359 (GRCm39) |
Y551C |
probably damaging |
Het |
| Ttc17 |
T |
C |
2: 94,192,866 (GRCm39) |
Y628C |
probably damaging |
Het |
| Vmn1r180 |
A |
C |
7: 23,652,635 (GRCm39) |
D266A |
possibly damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,260,981 (GRCm39) |
K481* |
probably null |
Het |
| Zc3hav1 |
A |
G |
6: 38,284,172 (GRCm39) |
V981A |
probably damaging |
Het |
|
| Other mutations in Pak6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Pak6
|
APN |
2 |
118,520,326 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL00979:Pak6
|
APN |
2 |
118,526,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01577:Pak6
|
APN |
2 |
118,524,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01928:Pak6
|
APN |
2 |
118,520,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01951:Pak6
|
APN |
2 |
118,523,741 (GRCm39) |
missense |
probably benign |
|
|
IGL02387:Pak6
|
APN |
2 |
118,523,714 (GRCm39) |
missense |
probably benign |
|
|
IGL03302:Pak6
|
APN |
2 |
118,523,784 (GRCm39) |
missense |
probably benign |
|
|
bedamned
|
UTSW |
2 |
118,524,488 (GRCm39) |
splice site |
probably benign |
|
|
bequeathed
|
UTSW |
2 |
118,524,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0126:Pak6
|
UTSW |
2 |
118,520,813 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0883:Pak6
|
UTSW |
2 |
118,524,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1128:Pak6
|
UTSW |
2 |
118,526,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2073:Pak6
|
UTSW |
2 |
118,519,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Pak6
|
UTSW |
2 |
118,525,050 (GRCm39) |
nonsense |
probably null |
|
|
R2920:Pak6
|
UTSW |
2 |
118,524,488 (GRCm39) |
splice site |
probably benign |
|
|
R3118:Pak6
|
UTSW |
2 |
118,520,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Pak6
|
UTSW |
2 |
118,523,921 (GRCm39) |
nonsense |
probably null |
|
|
R3762:Pak6
|
UTSW |
2 |
118,526,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4589:Pak6
|
UTSW |
2 |
118,527,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Pak6
|
UTSW |
2 |
118,525,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Pak6
|
UTSW |
2 |
118,525,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5206:Pak6
|
UTSW |
2 |
118,523,784 (GRCm39) |
missense |
probably benign |
|
|
R7232:Pak6
|
UTSW |
2 |
118,524,003 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7236:Pak6
|
UTSW |
2 |
118,523,909 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7292:Pak6
|
UTSW |
2 |
118,524,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7623:Pak6
|
UTSW |
2 |
118,525,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Pak6
|
UTSW |
2 |
118,525,793 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8190:Pak6
|
UTSW |
2 |
118,520,578 (GRCm39) |
nonsense |
probably null |
|
|
R8374:Pak6
|
UTSW |
2 |
118,524,477 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8515:Pak6
|
UTSW |
2 |
118,520,478 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9290:Pak6
|
UTSW |
2 |
118,523,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9689:Pak6
|
UTSW |
2 |
118,520,243 (GRCm39) |
missense |
probably benign |
|
|
R9768:Pak6
|
UTSW |
2 |
118,520,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGAGCTGCTCTTTAATGAGG -3'
(R):5'- GGCAGGAGTCTAGTAAGATCAGTC -3'
Sequencing Primer
(F):5'- CTGCTCTTTAATGAGGTGGGGACC -3'
(R):5'- GTAAGATCAGTCCTATTGGCCAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation