Incidental Mutation 'R0524:Pask'
ID |
48760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pask
|
Ensembl Gene |
ENSMUSG00000026274 |
Gene Name |
PAS domain containing serine/threonine kinase |
Synonyms |
Paskin |
MMRRC Submission |
038717-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R0524 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93238556 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 1310
(W1310R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027492]
[ENSMUST00000027493]
[ENSMUST00000112942]
[ENSMUST00000112944]
|
AlphaFold |
Q8CEE6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027492
|
SMART Domains |
Protein: ENSMUSP00000027492 Gene: ENSMUSG00000026273
Domain | Start | End | E-Value | Type |
low complexity region
|
124 |
136 |
N/A |
INTRINSIC |
Mterf
|
142 |
172 |
1.28e2 |
SMART |
Mterf
|
177 |
208 |
1.1e1 |
SMART |
Mterf
|
213 |
244 |
3.89e0 |
SMART |
Mterf
|
246 |
274 |
2.06e2 |
SMART |
low complexity region
|
323 |
344 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027493
AA Change: W1310R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027493 Gene: ENSMUSG00000026274 AA Change: W1310R
Domain | Start | End | E-Value | Type |
PAS
|
119 |
186 |
3.87e-8 |
SMART |
PAS
|
333 |
400 |
3.08e-2 |
SMART |
low complexity region
|
907 |
918 |
N/A |
INTRINSIC |
low complexity region
|
1043 |
1054 |
N/A |
INTRINSIC |
S_TKc
|
1059 |
1311 |
8.16e-79 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112942
|
SMART Domains |
Protein: ENSMUSP00000108564 Gene: ENSMUSG00000026273
Domain | Start | End | E-Value | Type |
PDB:4FP9|H
|
50 |
235 |
7e-55 |
PDB |
Blast:Mterf
|
142 |
167 |
1e-7 |
BLAST |
Blast:Mterf
|
178 |
208 |
8e-13 |
BLAST |
Blast:Mterf
|
213 |
235 |
6e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112944
|
SMART Domains |
Protein: ENSMUSP00000108566 Gene: ENSMUSG00000026273
Domain | Start | End | E-Value | Type |
PDB:4FP9|H
|
50 |
235 |
6e-54 |
PDB |
Blast:Mterf
|
142 |
167 |
6e-8 |
BLAST |
Blast:Mterf
|
178 |
208 |
2e-12 |
BLAST |
Blast:Mterf
|
213 |
235 |
1e-7 |
BLAST |
low complexity region
|
253 |
273 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133886
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148355
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189856
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188069
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152307
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 96.4%
- 20x: 92.4%
|
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 the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] PHENOTYPE: Homozygous null mice display resistance to diet-induced obesity, impaired glucose stimulated insulin secretion, abnormal energy balance, and abnormalities in hypoxia induced changes in ventialtion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd3 |
CGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGA |
1: 180,574,624 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,949,013 (GRCm39) |
E216G |
probably benign |
Het |
Aoc3 |
C |
A |
11: 101,228,337 (GRCm39) |
P715T |
probably damaging |
Het |
Bnipl |
T |
C |
3: 95,157,140 (GRCm39) |
D33G |
probably benign |
Het |
Celsr2 |
T |
C |
3: 108,308,903 (GRCm39) |
H1701R |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,531,082 (GRCm39) |
H756L |
probably benign |
Het |
Clca4a |
A |
G |
3: 144,675,154 (GRCm39) |
W159R |
probably damaging |
Het |
Ddx49 |
A |
T |
8: 70,749,574 (GRCm39) |
I252N |
probably damaging |
Het |
Duox2 |
T |
C |
2: 122,112,317 (GRCm39) |
T1290A |
possibly damaging |
Het |
Fam111a |
T |
A |
19: 12,565,412 (GRCm39) |
I431K |
probably damaging |
Het |
Fam135b |
A |
T |
15: 71,334,133 (GRCm39) |
D1020E |
probably benign |
Het |
Flii |
A |
G |
11: 60,610,887 (GRCm39) |
V514A |
probably damaging |
Het |
Frmpd1 |
A |
G |
4: 45,283,774 (GRCm39) |
D865G |
probably benign |
Het |
Frmpd1 |
G |
A |
4: 45,256,902 (GRCm39) |
V157M |
probably damaging |
Het |
Gsr |
G |
A |
8: 34,159,208 (GRCm39) |
|
probably null |
Het |
H1f11-ps |
T |
A |
19: 47,158,933 (GRCm39) |
K214M |
unknown |
Het |
Hps3 |
A |
T |
3: 20,066,940 (GRCm39) |
V542E |
probably damaging |
Het |
Kcnj5 |
A |
G |
9: 32,234,270 (GRCm39) |
I15T |
probably benign |
Het |
Kif2b |
T |
C |
11: 91,466,550 (GRCm39) |
R578G |
probably benign |
Het |
Lamb2 |
A |
G |
9: 108,361,571 (GRCm39) |
R676G |
possibly damaging |
Het |
Mrpl40 |
A |
G |
16: 18,692,302 (GRCm39) |
F94S |
possibly damaging |
Het |
Myo7b |
C |
T |
18: 32,146,477 (GRCm39) |
V103M |
possibly damaging |
Het |
Nmt2 |
T |
A |
2: 3,306,474 (GRCm39) |
W69R |
probably benign |
Het |
Nsd3 |
C |
A |
8: 26,190,605 (GRCm39) |
Q1130K |
possibly damaging |
Het |
Olfml1 |
T |
C |
7: 107,189,384 (GRCm39) |
S150P |
probably damaging |
Het |
Or2g1 |
A |
T |
17: 38,106,496 (GRCm39) |
K54* |
probably null |
Het |
Or5b116 |
A |
G |
19: 13,423,228 (GRCm39) |
N284S |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,710,091 (GRCm39) |
Q408R |
probably damaging |
Het |
Pfkm |
A |
G |
15: 98,029,488 (GRCm39) |
I700V |
probably benign |
Het |
Pias1 |
A |
G |
9: 62,859,460 (GRCm39) |
V16A |
probably damaging |
Het |
Pnpla8 |
C |
T |
12: 44,330,401 (GRCm39) |
Q318* |
probably null |
Het |
Ppp1cc |
C |
T |
5: 122,310,833 (GRCm39) |
R142* |
probably null |
Het |
Pygl |
T |
A |
12: 70,254,498 (GRCm39) |
N149I |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,581,110 (GRCm39) |
S1285T |
probably benign |
Het |
Rdh13 |
A |
C |
7: 4,447,296 (GRCm39) |
C10W |
probably damaging |
Het |
Rgr |
A |
T |
14: 36,760,252 (GRCm39) |
C273S |
probably benign |
Het |
Ripk4 |
G |
T |
16: 97,556,487 (GRCm39) |
Y22* |
probably null |
Het |
Slc34a2 |
G |
A |
5: 53,222,215 (GRCm39) |
W302* |
probably null |
Het |
Smarce1 |
G |
A |
11: 99,104,888 (GRCm39) |
T263M |
probably damaging |
Het |
Sypl1 |
C |
T |
12: 33,017,564 (GRCm39) |
P94L |
possibly damaging |
Het |
Tet3 |
A |
G |
6: 83,356,924 (GRCm39) |
I878T |
probably damaging |
Het |
Tmem232 |
A |
G |
17: 65,792,937 (GRCm39) |
S87P |
probably damaging |
Het |
Tmem260 |
A |
G |
14: 48,709,935 (GRCm39) |
T163A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,555,796 (GRCm39) |
Y30403C |
probably damaging |
Het |
Ubash3b |
A |
T |
9: 40,927,904 (GRCm39) |
M468K |
probably benign |
Het |
Ulk4 |
A |
G |
9: 121,081,717 (GRCm39) |
|
probably null |
Het |
Vmn1r72 |
A |
G |
7: 11,403,719 (GRCm39) |
F243S |
probably benign |
Het |
Wrap73 |
A |
G |
4: 154,229,764 (GRCm39) |
Y45C |
probably damaging |
Het |
Zfp704 |
T |
C |
3: 9,674,424 (GRCm39) |
D119G |
unknown |
Het |
Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pask |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01366:Pask
|
APN |
1 |
93,238,574 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01620:Pask
|
APN |
1 |
93,237,844 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01959:Pask
|
APN |
1 |
93,262,329 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02170:Pask
|
APN |
1 |
93,238,606 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02499:Pask
|
APN |
1 |
93,248,817 (GRCm39) |
nonsense |
probably null |
|
IGL02670:Pask
|
APN |
1 |
93,238,540 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03066:Pask
|
APN |
1 |
93,258,588 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03210:Pask
|
APN |
1 |
93,247,714 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0472:Pask
|
UTSW |
1 |
93,248,639 (GRCm39) |
missense |
probably benign |
0.00 |
R0854:Pask
|
UTSW |
1 |
93,255,156 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0854:Pask
|
UTSW |
1 |
93,255,122 (GRCm39) |
missense |
probably damaging |
0.99 |
R0854:Pask
|
UTSW |
1 |
93,255,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Pask
|
UTSW |
1 |
93,242,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R1052:Pask
|
UTSW |
1 |
93,258,549 (GRCm39) |
missense |
probably benign |
0.00 |
R1406:Pask
|
UTSW |
1 |
93,249,373 (GRCm39) |
missense |
probably benign |
0.00 |
R1406:Pask
|
UTSW |
1 |
93,249,373 (GRCm39) |
missense |
probably benign |
0.00 |
R1831:Pask
|
UTSW |
1 |
93,248,491 (GRCm39) |
splice site |
probably null |
|
R1958:Pask
|
UTSW |
1 |
93,249,180 (GRCm39) |
missense |
probably benign |
0.00 |
R2143:Pask
|
UTSW |
1 |
93,249,019 (GRCm39) |
missense |
probably benign |
0.00 |
R2144:Pask
|
UTSW |
1 |
93,249,019 (GRCm39) |
missense |
probably benign |
0.00 |
R2145:Pask
|
UTSW |
1 |
93,249,019 (GRCm39) |
missense |
probably benign |
0.00 |
R2509:Pask
|
UTSW |
1 |
93,258,485 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2858:Pask
|
UTSW |
1 |
93,249,373 (GRCm39) |
missense |
probably benign |
0.00 |
R2899:Pask
|
UTSW |
1 |
93,262,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R3545:Pask
|
UTSW |
1 |
93,244,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R3778:Pask
|
UTSW |
1 |
93,255,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R4111:Pask
|
UTSW |
1 |
93,238,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R4514:Pask
|
UTSW |
1 |
93,249,855 (GRCm39) |
missense |
probably benign |
0.03 |
R4527:Pask
|
UTSW |
1 |
93,248,224 (GRCm39) |
missense |
probably benign |
|
R4580:Pask
|
UTSW |
1 |
93,249,830 (GRCm39) |
missense |
probably benign |
0.36 |
R4718:Pask
|
UTSW |
1 |
93,249,918 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4775:Pask
|
UTSW |
1 |
93,265,246 (GRCm39) |
missense |
probably damaging |
0.97 |
R5036:Pask
|
UTSW |
1 |
93,249,801 (GRCm39) |
nonsense |
probably null |
|
R5070:Pask
|
UTSW |
1 |
93,258,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R5084:Pask
|
UTSW |
1 |
93,249,819 (GRCm39) |
missense |
probably benign |
|
R5151:Pask
|
UTSW |
1 |
93,262,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R5196:Pask
|
UTSW |
1 |
93,237,805 (GRCm39) |
unclassified |
probably benign |
|
R5643:Pask
|
UTSW |
1 |
93,265,065 (GRCm39) |
critical splice donor site |
probably null |
|
R5739:Pask
|
UTSW |
1 |
93,249,778 (GRCm39) |
missense |
probably benign |
|
R6126:Pask
|
UTSW |
1 |
93,242,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R7161:Pask
|
UTSW |
1 |
93,238,627 (GRCm39) |
missense |
probably benign |
|
R7284:Pask
|
UTSW |
1 |
93,248,391 (GRCm39) |
missense |
probably benign |
0.01 |
R7289:Pask
|
UTSW |
1 |
93,259,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R8277:Pask
|
UTSW |
1 |
93,253,085 (GRCm39) |
critical splice donor site |
probably null |
|
R8303:Pask
|
UTSW |
1 |
93,248,286 (GRCm39) |
missense |
probably benign |
0.10 |
R8309:Pask
|
UTSW |
1 |
93,240,573 (GRCm39) |
nonsense |
probably null |
|
R8321:Pask
|
UTSW |
1 |
93,248,377 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8476:Pask
|
UTSW |
1 |
93,249,361 (GRCm39) |
missense |
probably benign |
0.00 |
R8814:Pask
|
UTSW |
1 |
93,248,307 (GRCm39) |
missense |
probably benign |
0.00 |
R9061:Pask
|
UTSW |
1 |
93,253,191 (GRCm39) |
nonsense |
probably null |
|
R9198:Pask
|
UTSW |
1 |
93,265,205 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9406:Pask
|
UTSW |
1 |
93,251,987 (GRCm39) |
missense |
probably benign |
0.02 |
R9578:Pask
|
UTSW |
1 |
93,263,390 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Pask
|
UTSW |
1 |
93,244,523 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pask
|
UTSW |
1 |
93,263,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCTCTTTGGACCAGACAACTGAC -3'
(R):5'- TGGAGTTGACGGGCTCATAAATGC -3'
Sequencing Primer
(F):5'- CTCCTAGCCAGGGCTATTATAAG -3'
(R):5'- CATTTCCTGAGTATATCAGGCCAG -3'
|
Posted On |
2013-06-12 |