Incidental Mutation 'IGL01620:Pask'
ID |
92544 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pask
|
Ensembl Gene |
ENSMUSG00000026274 |
Gene Name |
PAS domain containing serine/threonine kinase |
Synonyms |
Paskin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
IGL01620
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93237844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 1374
(H1374Q)
|
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 |
possibly damaging
Transcript: ENSMUST00000027493
AA Change: H1374Q
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000027493 Gene: ENSMUSG00000026274 AA Change: H1374Q
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: ENSMUST00000152307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189856
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148355
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188069
|
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 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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aaas |
A |
T |
15: 102,248,385 (GRCm39) |
V277D |
probably damaging |
Het |
Akap9 |
T |
A |
5: 4,010,218 (GRCm39) |
V325D |
probably benign |
Het |
Ambra1 |
A |
G |
2: 91,741,757 (GRCm39) |
|
probably null |
Het |
Ano9 |
A |
G |
7: 140,690,352 (GRCm39) |
L94P |
probably damaging |
Het |
Atad3a |
G |
T |
4: 155,830,535 (GRCm39) |
T521K |
probably damaging |
Het |
Bckdk |
A |
G |
7: 127,504,948 (GRCm39) |
K126E |
possibly damaging |
Het |
Bdp1 |
A |
T |
13: 100,220,713 (GRCm39) |
|
probably benign |
Het |
Btbd17 |
T |
C |
11: 114,686,599 (GRCm39) |
T26A |
probably benign |
Het |
Cadps2 |
G |
A |
6: 23,587,461 (GRCm39) |
S314L |
probably benign |
Het |
Ccl8 |
A |
T |
11: 82,007,435 (GRCm39) |
Q90L |
probably damaging |
Het |
Chit1 |
T |
C |
1: 134,078,257 (GRCm39) |
V355A |
probably damaging |
Het |
Col17a1 |
A |
G |
19: 47,656,978 (GRCm39) |
I555T |
possibly damaging |
Het |
Dmwd |
T |
A |
7: 18,815,159 (GRCm39) |
|
probably null |
Het |
Dtna |
T |
C |
18: 23,758,144 (GRCm39) |
I483T |
probably damaging |
Het |
Eloc |
T |
A |
1: 16,713,502 (GRCm39) |
|
probably benign |
Het |
Emc7 |
T |
A |
2: 112,295,119 (GRCm39) |
L177H |
probably damaging |
Het |
Emsy |
T |
A |
7: 98,275,831 (GRCm39) |
K352I |
probably damaging |
Het |
Ermn |
T |
C |
2: 57,942,502 (GRCm39) |
E76G |
probably benign |
Het |
Flot1 |
A |
T |
17: 36,140,763 (GRCm39) |
E203V |
possibly damaging |
Het |
Hsd11b2 |
A |
G |
8: 106,249,529 (GRCm39) |
K266R |
probably benign |
Het |
Iqck |
A |
T |
7: 118,476,901 (GRCm39) |
K154M |
probably damaging |
Het |
Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
Kash5 |
T |
C |
7: 44,839,384 (GRCm39) |
D359G |
probably damaging |
Het |
Kif13a |
T |
C |
13: 47,018,296 (GRCm39) |
K53R |
probably benign |
Het |
Klhl2 |
A |
T |
8: 65,232,772 (GRCm39) |
H168Q |
probably damaging |
Het |
Lpcat2b |
T |
C |
5: 107,581,759 (GRCm39) |
Y363H |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,488,225 (GRCm39) |
N290K |
probably damaging |
Het |
Map2k3 |
T |
C |
11: 60,840,873 (GRCm39) |
F301L |
possibly damaging |
Het |
Mns1 |
A |
G |
9: 72,364,195 (GRCm39) |
|
probably benign |
Het |
Nos1 |
A |
G |
5: 118,043,374 (GRCm39) |
|
probably null |
Het |
Or1j17 |
T |
A |
2: 36,578,550 (GRCm39) |
C179S |
probably damaging |
Het |
Or52h7 |
T |
A |
7: 104,214,220 (GRCm39) |
V264D |
probably damaging |
Het |
Pik3r1 |
G |
A |
13: 101,822,728 (GRCm39) |
A658V |
probably damaging |
Het |
Ppp2r2a |
A |
T |
14: 67,307,726 (GRCm39) |
F14I |
probably damaging |
Het |
Ptprc |
C |
T |
1: 137,996,148 (GRCm39) |
E904K |
possibly damaging |
Het |
Rab11fip4 |
G |
T |
11: 79,582,705 (GRCm39) |
D591Y |
possibly damaging |
Het |
Rab3gap2 |
A |
G |
1: 184,936,523 (GRCm39) |
T29A |
probably benign |
Het |
Rgs19 |
A |
G |
2: 181,331,381 (GRCm39) |
V84A |
possibly damaging |
Het |
Shisa6 |
T |
G |
11: 66,108,705 (GRCm39) |
M391L |
probably benign |
Het |
Sipa1l1 |
G |
A |
12: 82,469,263 (GRCm39) |
G1254D |
probably damaging |
Het |
Slfn8 |
A |
T |
11: 82,895,059 (GRCm39) |
Y358* |
probably null |
Het |
Taf3 |
G |
T |
2: 9,957,472 (GRCm39) |
R232S |
probably benign |
Het |
Terb2 |
T |
A |
2: 122,035,338 (GRCm39) |
H186Q |
possibly damaging |
Het |
Trav13n-4 |
T |
C |
14: 53,601,473 (GRCm39) |
S81P |
probably damaging |
Het |
Trim30d |
G |
T |
7: 104,121,333 (GRCm39) |
P321T |
possibly damaging |
Het |
Tyrp1 |
G |
T |
4: 80,763,039 (GRCm39) |
G309* |
probably null |
Het |
Vps13d |
C |
A |
4: 144,821,437 (GRCm39) |
G2979V |
possibly damaging |
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 |
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 |
R0524:Pask
|
UTSW |
1 |
93,238,556 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2013-12-09 |