Incidental Mutation 'IGL01366:Pask'
| ID |
75948 |
| 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 # |
IGL01366
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93238574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1304
(K1304E)
|
| 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 benign
Transcript: ENSMUST00000027493
AA Change: K1304E
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: K1304E
| 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: ENSMUST00000152307
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
T |
4: 73,868,937 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,687,295 (GRCm39) |
Y1041H |
probably damaging |
Het |
| Adck5 |
A |
C |
15: 76,479,816 (GRCm39) |
*568C |
probably null |
Het |
| AK157302 |
T |
A |
13: 21,679,471 (GRCm39) |
|
probably benign |
Het |
| Bmpr2 |
G |
T |
1: 59,852,836 (GRCm39) |
G56W |
probably damaging |
Het |
| Capn11 |
A |
C |
17: 45,964,126 (GRCm39) |
I146S |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,456,302 (GRCm39) |
D1613E |
possibly damaging |
Het |
| Ccdc167 |
T |
C |
17: 29,924,286 (GRCm39) |
E50G |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,431,048 (GRCm39) |
P864Q |
possibly damaging |
Het |
| Col7a1 |
C |
T |
9: 108,806,187 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
T |
A |
16: 3,944,370 (GRCm39) |
H556L |
probably damaging |
Het |
| Dcpp1 |
T |
A |
17: 24,101,710 (GRCm39) |
I153N |
possibly damaging |
Het |
| Dgke |
C |
T |
11: 88,946,212 (GRCm39) |
R196H |
probably benign |
Het |
| Efr3a |
T |
A |
15: 65,722,999 (GRCm39) |
I459K |
probably benign |
Het |
| Espl1 |
T |
A |
15: 102,228,271 (GRCm39) |
C1682S |
probably benign |
Het |
| Exosc3 |
C |
T |
4: 45,317,747 (GRCm39) |
R185H |
probably damaging |
Het |
| Fgd6 |
T |
C |
10: 93,879,338 (GRCm39) |
V64A |
possibly damaging |
Het |
| Fhip2b |
G |
A |
14: 70,822,813 (GRCm39) |
R688C |
probably damaging |
Het |
| Gata3 |
A |
G |
2: 9,882,276 (GRCm39) |
L42P |
probably damaging |
Het |
| Ggta1 |
C |
A |
2: 35,292,462 (GRCm39) |
E282* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,669 (GRCm39) |
D503G |
probably damaging |
Het |
| Gls |
C |
T |
1: 52,207,558 (GRCm39) |
G602D |
probably damaging |
Het |
| Gm2058 |
A |
G |
7: 39,238,658 (GRCm39) |
|
noncoding transcript |
Het |
| Grb7 |
T |
C |
11: 98,343,100 (GRCm39) |
|
probably benign |
Het |
| Ifngr1 |
A |
T |
10: 19,485,348 (GRCm39) |
H449L |
probably damaging |
Het |
| Ighg2b |
T |
G |
12: 113,270,656 (GRCm39) |
D158A |
possibly damaging |
Het |
| Nphs2 |
T |
C |
1: 156,138,605 (GRCm39) |
V83A |
probably benign |
Het |
| Parp6 |
T |
A |
9: 59,543,996 (GRCm39) |
M390K |
possibly damaging |
Het |
| Scai |
A |
G |
2: 38,996,973 (GRCm39) |
S274P |
probably benign |
Het |
| Sik2 |
A |
G |
9: 50,818,763 (GRCm39) |
S404P |
probably damaging |
Het |
| Slc7a8 |
A |
T |
14: 55,018,645 (GRCm39) |
I47N |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,870,760 (GRCm39) |
I263F |
probably benign |
Het |
| Tdrd1 |
T |
A |
19: 56,843,734 (GRCm39) |
D737E |
probably benign |
Het |
| Trio |
T |
C |
15: 27,732,954 (GRCm39) |
T2976A |
possibly damaging |
Het |
| Ttc28 |
T |
C |
5: 111,233,037 (GRCm39) |
|
probably null |
Het |
| Vmn1r21 |
A |
G |
6: 57,820,799 (GRCm39) |
I215T |
probably benign |
Het |
|
| Other mutations in Pask |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation