Incidental Mutation 'IGL00979:Pak6'
| ID |
27023 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00979
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
118493784-118528501 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 118526963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 653
(L653I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099557]
[ENSMUST00000104937]
[ENSMUST00000110853]
|
| AlphaFold |
Q3ULB5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099557
AA Change: L653I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000097153
Gene: ENSMUSG00000074923
AA Change: L653I
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
12 |
47 |
4.47e-11 |
SMART |
|
S_TKc
|
408 |
659 |
2.38e-89 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000104937
|
| SMART Domains |
Protein: ENSMUSP00000100542
Gene: ENSMUSG00000078137
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
46 |
79 |
1.87e0 |
SMART |
|
ANK
|
83 |
112 |
3.23e-4 |
SMART |
|
ANK
|
116 |
145 |
3.44e1 |
SMART |
|
low complexity region
|
193 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110853
AA Change: L653I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106477
Gene: ENSMUSG00000074923
AA Change: L653I
| 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 |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
T |
4: 123,754,338 (GRCm39) |
K84M |
probably damaging |
Het |
| A4gnt |
T |
A |
9: 99,502,489 (GRCm39) |
Y216* |
probably null |
Het |
| Abcb1b |
A |
G |
5: 8,875,293 (GRCm39) |
|
probably benign |
Het |
| Ankrd50 |
G |
A |
3: 38,506,563 (GRCm39) |
|
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,381,584 (GRCm39) |
T89A |
probably benign |
Het |
| Ccdc15 |
C |
T |
9: 37,227,786 (GRCm39) |
S236N |
probably benign |
Het |
| Cd34 |
A |
C |
1: 194,631,816 (GRCm39) |
T151P |
possibly damaging |
Het |
| Col28a1 |
A |
T |
6: 8,014,810 (GRCm39) |
V865E |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,232,304 (GRCm39) |
V537E |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,011,777 (GRCm39) |
F553L |
probably damaging |
Het |
| Dolk |
A |
T |
2: 30,174,743 (GRCm39) |
L434Q |
probably damaging |
Het |
| Dsg2 |
C |
A |
18: 20,715,824 (GRCm39) |
D255E |
probably damaging |
Het |
| Endov |
T |
C |
11: 119,391,444 (GRCm39) |
V144A |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 49,232,034 (GRCm39) |
N499D |
probably damaging |
Het |
| Hephl1 |
G |
T |
9: 14,978,341 (GRCm39) |
T855K |
probably benign |
Het |
| Hif1a |
A |
G |
12: 73,988,784 (GRCm39) |
D557G |
probably damaging |
Het |
| Idh1 |
G |
A |
1: 65,210,308 (GRCm39) |
T75I |
probably damaging |
Het |
| Ighv1-37 |
A |
G |
12: 114,860,070 (GRCm39) |
S47P |
probably benign |
Het |
| Irx4 |
A |
G |
13: 73,416,341 (GRCm39) |
|
probably benign |
Het |
| Itpr1 |
C |
T |
6: 108,448,081 (GRCm39) |
A1871V |
probably damaging |
Het |
| Klkb1 |
A |
G |
8: 45,747,105 (GRCm39) |
|
probably benign |
Het |
| Lrrc8e |
T |
C |
8: 4,285,080 (GRCm39) |
L435P |
probably damaging |
Het |
| Megf11 |
T |
A |
9: 64,416,009 (GRCm39) |
Y73N |
probably damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,607 (GRCm39) |
D128G |
probably damaging |
Het |
| Or13a22 |
A |
G |
7: 140,072,614 (GRCm39) |
E21G |
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,584,771 (GRCm39) |
M59K |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,655,074 (GRCm39) |
|
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,789,066 (GRCm39) |
V831A |
probably benign |
Het |
| Prc1 |
G |
T |
7: 79,957,444 (GRCm39) |
|
probably null |
Het |
| Ptprs |
C |
T |
17: 56,765,243 (GRCm39) |
G14S |
probably damaging |
Het |
| Pygb |
A |
G |
2: 150,661,833 (GRCm39) |
K520E |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,883,505 (GRCm39) |
S92P |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,113,638 (GRCm39) |
L109Q |
probably damaging |
Het |
| Saxo4 |
T |
C |
19: 10,451,863 (GRCm39) |
*428W |
probably null |
Het |
| Scn8a |
A |
T |
15: 100,853,287 (GRCm39) |
|
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,545,991 (GRCm39) |
I23V |
unknown |
Het |
| Sec61a2 |
A |
G |
2: 5,876,831 (GRCm39) |
Y350H |
possibly damaging |
Het |
| Slc4a3 |
A |
T |
1: 75,530,891 (GRCm39) |
Q759L |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,387,378 (GRCm39) |
P1378L |
probably damaging |
Het |
| Spta1 |
T |
G |
1: 174,035,956 (GRCm39) |
Y1087* |
probably null |
Het |
| Tenm4 |
A |
G |
7: 96,378,598 (GRCm39) |
E401G |
probably damaging |
Het |
| Tom1 |
C |
A |
8: 75,781,331 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,257,577 (GRCm39) |
V1273D |
probably damaging |
Het |
| Vmn2r106 |
G |
T |
17: 20,497,837 (GRCm39) |
D467E |
possibly damaging |
Het |
| Washc4 |
A |
T |
10: 83,386,747 (GRCm39) |
T124S |
probably benign |
Het |
| Zfp790 |
A |
G |
7: 29,529,034 (GRCm39) |
E573G |
probably benign |
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 |
|
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 |
|
|
R5683:Pak6
|
UTSW |
2 |
118,524,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-04-17 |
Incidental Mutation