Incidental Mutation 'R6047:Pak4'
| ID |
483340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pak4
|
| Ensembl Gene |
ENSMUSG00000030602 |
| Gene Name |
p21 (RAC1) activated kinase 4 |
| Synonyms |
5730488L07Rik |
| MMRRC Submission |
044215-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28258244-28297609 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28262461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 384
(Y384H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032823]
[ENSMUST00000040531]
[ENSMUST00000108283]
|
| AlphaFold |
Q8BTW9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032823
AA Change: Y384H
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032823
Gene: ENSMUSG00000030602
AA Change: Y384H
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
11 |
46 |
4.07e-14 |
SMART |
|
low complexity region
|
238 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
300 |
N/A |
INTRINSIC |
|
S_TKc
|
323 |
574 |
1.21e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040531
|
| SMART Domains |
Protein: ENSMUSP00000040486
Gene: ENSMUSG00000109336
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
81 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
|
low complexity region
|
278 |
290 |
N/A |
INTRINSIC |
|
SAM
|
296 |
359 |
1.02e-9 |
SMART |
|
low complexity region
|
406 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108283
AA Change: Y384H
PolyPhen 2
Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103918
Gene: ENSMUSG00000030602
AA Change: Y384H
| Domain | Start | End | E-Value | Type |
|---|
|
PBD
|
11 |
46 |
4.07e-14 |
SMART |
|
low complexity region
|
238 |
258 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
300 |
N/A |
INTRINSIC |
|
S_TKc
|
323 |
574 |
1.21e-90 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183983
|
| Meta Mutation Damage Score |
0.9134 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. They serve as targets for the small GTP binding proteins Cdc42 and Rac and have been implicated in a wide range of biological activities. PAK4 interacts specifically with the GTP-bound form of Cdc42Hs and weakly activates the JNK family of MAP kinases. PAK4 is a mediator of filopodia formation and may play a role in the reorganization of the actin cytoskeleton. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die at midgestation exhibiting heart defects as well as impaired neuronal development and yolk sac vasculature. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,856,066 (GRCm39) |
I58T |
probably damaging |
Het |
| Adgrb2 |
G |
T |
4: 129,912,498 (GRCm39) |
G1208C |
probably damaging |
Het |
| Antxrl |
T |
C |
14: 33,775,433 (GRCm39) |
|
probably benign |
Het |
| Appl2 |
C |
T |
10: 83,448,765 (GRCm39) |
|
probably null |
Het |
| Bloc1s2 |
T |
C |
19: 44,130,629 (GRCm39) |
I112V |
possibly damaging |
Het |
| Cblb |
G |
T |
16: 51,932,611 (GRCm39) |
|
probably null |
Het |
| Cdk9 |
T |
C |
2: 32,598,285 (GRCm39) |
|
probably null |
Het |
| Dok7 |
G |
A |
5: 35,236,651 (GRCm39) |
G206D |
probably damaging |
Het |
| Ftsj3 |
C |
T |
11: 106,143,144 (GRCm39) |
R390H |
probably damaging |
Het |
| Gpr179 |
G |
T |
11: 97,229,242 (GRCm39) |
P971Q |
probably damaging |
Het |
| Hic1 |
A |
T |
11: 75,057,675 (GRCm39) |
S405T |
possibly damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,482,061 (GRCm39) |
L217P |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,711,483 (GRCm39) |
K468E |
probably damaging |
Het |
| Lce1j |
G |
C |
3: 92,696,503 (GRCm39) |
R92G |
unknown |
Het |
| Lrp12 |
T |
C |
15: 39,735,463 (GRCm39) |
E823G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,527,787 (GRCm39) |
I98T |
probably benign |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,212 (GRCm39) |
H179L |
possibly damaging |
Het |
| Med24 |
A |
T |
11: 98,598,591 (GRCm39) |
C691* |
probably null |
Het |
| Mical1 |
T |
C |
10: 41,357,703 (GRCm39) |
|
probably null |
Het |
| Msantd2 |
A |
T |
9: 37,434,738 (GRCm39) |
Y326F |
probably damaging |
Het |
| Nfyc |
T |
A |
4: 120,636,314 (GRCm39) |
|
probably null |
Het |
| Nrg3 |
T |
A |
14: 38,119,309 (GRCm39) |
|
probably null |
Het |
| Nt5c3 |
G |
A |
6: 56,859,964 (GRCm39) |
S291L |
probably damaging |
Het |
| Pdia5 |
T |
C |
16: 35,217,848 (GRCm39) |
K512E |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,406,597 (GRCm39) |
F283L |
probably damaging |
Het |
| Pick1 |
A |
G |
15: 79,139,895 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,814,059 (GRCm39) |
V4143A |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 138,028,779 (GRCm39) |
|
probably null |
Het |
| Scn10a |
A |
G |
9: 119,451,897 (GRCm39) |
F1342S |
probably benign |
Het |
| Slc17a7 |
A |
T |
7: 44,822,830 (GRCm39) |
I436F |
probably benign |
Het |
| Slc34a1 |
G |
T |
13: 55,559,884 (GRCm39) |
A403S |
probably damaging |
Het |
| Stmn3 |
A |
T |
2: 180,950,952 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Tldc2 |
A |
G |
2: 156,938,382 (GRCm39) |
E207G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,027,717 (GRCm39) |
N436S |
probably damaging |
Het |
| Uty |
G |
T |
Y: 1,158,288 (GRCm39) |
P538Q |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,756,921 (GRCm39) |
D1142G |
probably damaging |
Het |
|
| Other mutations in Pak4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0025:Pak4
|
UTSW |
7 |
28,263,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Pak4
|
UTSW |
7 |
28,267,479 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0893:Pak4
|
UTSW |
7 |
28,259,202 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1108:Pak4
|
UTSW |
7 |
28,259,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Pak4
|
UTSW |
7 |
28,264,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Pak4
|
UTSW |
7 |
28,264,690 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3108:Pak4
|
UTSW |
7 |
28,263,769 (GRCm39) |
nonsense |
probably null |
|
|
R4693:Pak4
|
UTSW |
7 |
28,263,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5320:Pak4
|
UTSW |
7 |
28,267,631 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5357:Pak4
|
UTSW |
7 |
28,263,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5724:Pak4
|
UTSW |
7 |
28,264,005 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6161:Pak4
|
UTSW |
7 |
28,264,692 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6241:Pak4
|
UTSW |
7 |
28,264,690 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6820:Pak4
|
UTSW |
7 |
28,262,461 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7262:Pak4
|
UTSW |
7 |
28,264,625 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7338:Pak4
|
UTSW |
7 |
28,264,381 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7681:Pak4
|
UTSW |
7 |
28,259,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Pak4
|
UTSW |
7 |
28,261,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9038:Pak4
|
UTSW |
7 |
28,264,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9369:Pak4
|
UTSW |
7 |
28,260,240 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Pak4
|
UTSW |
7 |
28,264,653 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGGGCACTTGTCTATCAC -3'
(R):5'- CCTAGAATGAAGTCGCCCAC -3'
Sequencing Primer
(F):5'- TTGTCTATCACCAGAGCCTAAAGGG -3'
(R):5'- CCAGGTCTTCTTGGCTTTGGAAAAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation