Incidental Mutation 'R5151:Pask'
| ID |
395331 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pask
|
| Ensembl Gene |
ENSMUSG00000026274 |
| Gene Name |
PAS domain containing serine/threonine kinase |
| Synonyms |
Paskin |
| MMRRC Submission |
042733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5151 (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 93262350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 170
(L170H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
[ENSMUST00000128253]
|
| AlphaFold |
Q8CEE6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027493
AA Change: L170H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: L170H
| 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: ENSMUST00000128253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139028
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
T |
A |
15: 101,108,651 (GRCm39) |
C476S |
probably damaging |
Het |
| Agpat2 |
A |
G |
2: 26,487,218 (GRCm39) |
M120T |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,994,933 (GRCm39) |
T5406A |
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,948,775 (GRCm39) |
F112L |
probably damaging |
Het |
| Arhgef11 |
T |
A |
3: 87,642,667 (GRCm39) |
V1371D |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,514,059 (GRCm39) |
N286S |
probably damaging |
Het |
| Ate1 |
T |
C |
7: 130,109,394 (GRCm39) |
K202E |
possibly damaging |
Het |
| Cacna1d |
T |
C |
14: 29,845,280 (GRCm39) |
T630A |
probably damaging |
Het |
| Ccdc187 |
G |
T |
2: 26,183,451 (GRCm39) |
T183N |
probably damaging |
Het |
| Cdk12 |
C |
T |
11: 98,140,749 (GRCm39) |
|
probably benign |
Het |
| Ciita |
A |
G |
16: 10,341,594 (GRCm39) |
N978S |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,117,894 (GRCm39) |
Q1268L |
probably damaging |
Het |
| Csf2rb |
C |
T |
15: 78,224,781 (GRCm39) |
R180W |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,918,293 (GRCm39) |
I4079V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,659,929 (GRCm39) |
V693A |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,931,269 (GRCm39) |
V1428E |
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,362,647 (GRCm39) |
Q3777K |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,815,582 (GRCm39) |
Y1666H |
probably damaging |
Het |
| Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
| Eftud2 |
A |
G |
11: 102,758,670 (GRCm39) |
|
probably null |
Het |
| Erich4 |
T |
C |
7: 25,315,292 (GRCm39) |
|
probably benign |
Het |
| Fah |
T |
A |
7: 84,250,259 (GRCm39) |
D99V |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,851 (GRCm39) |
V534A |
possibly damaging |
Het |
| Fgf21 |
G |
C |
7: 45,263,456 (GRCm39) |
S207R |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,792,969 (GRCm39) |
P967S |
probably damaging |
Het |
| H2-T23 |
T |
C |
17: 36,343,230 (GRCm39) |
D49G |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,279,455 (GRCm39) |
N1819S |
probably null |
Het |
| Hoxc12 |
A |
G |
15: 102,846,881 (GRCm39) |
I258V |
probably damaging |
Het |
| Ighv1-22 |
T |
A |
12: 114,709,928 (GRCm39) |
T106S |
probably damaging |
Het |
| Inpp5j |
T |
C |
11: 3,452,270 (GRCm39) |
T327A |
probably damaging |
Het |
| Iqgap3 |
G |
T |
3: 88,025,067 (GRCm39) |
M689I |
possibly damaging |
Het |
| Itga7 |
G |
A |
10: 128,780,380 (GRCm39) |
G559S |
possibly damaging |
Het |
| Kcnq1 |
G |
T |
7: 142,979,749 (GRCm39) |
V632L |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,954,792 (GRCm39) |
V230A |
probably damaging |
Het |
| Mfn2 |
A |
T |
4: 147,970,785 (GRCm39) |
S305T |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,516,883 (GRCm39) |
T818A |
probably benign |
Het |
| Nacc2 |
G |
A |
2: 25,980,365 (GRCm39) |
R24C |
probably damaging |
Het |
| Ntrk3 |
A |
C |
7: 77,897,048 (GRCm39) |
I663R |
probably damaging |
Het |
| Nyap1 |
A |
G |
5: 137,734,376 (GRCm39) |
V219A |
probably damaging |
Het |
| Obox3 |
A |
T |
7: 15,360,173 (GRCm39) |
N165K |
probably damaging |
Het |
| Or13a1 |
T |
A |
6: 116,470,765 (GRCm39) |
L65* |
probably null |
Het |
| Or13j1 |
A |
T |
4: 43,706,518 (GRCm39) |
F17I |
probably damaging |
Het |
| Or2y12 |
A |
G |
11: 49,426,242 (GRCm39) |
T77A |
possibly damaging |
Het |
| Or52e2 |
C |
A |
7: 102,804,593 (GRCm39) |
M120I |
probably damaging |
Het |
| Or55b4 |
G |
A |
7: 102,134,192 (GRCm39) |
T45I |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,163,480 (GRCm39) |
I2146N |
possibly damaging |
Het |
| Pitpnm2 |
A |
T |
5: 124,274,449 (GRCm39) |
M220K |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
| Pla2g3 |
C |
T |
11: 3,440,827 (GRCm39) |
T264M |
probably benign |
Het |
| Plcb1 |
A |
T |
2: 135,104,165 (GRCm39) |
Y278F |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,533,899 (GRCm39) |
L1579P |
probably damaging |
Het |
| Rad51ap2 |
T |
A |
12: 11,507,516 (GRCm39) |
N479K |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,044,155 (GRCm39) |
H966R |
probably damaging |
Het |
| Rbm27 |
A |
G |
18: 42,471,509 (GRCm39) |
D996G |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,010,321 (GRCm39) |
K2337T |
probably damaging |
Het |
| Rpl13a |
G |
T |
7: 44,775,385 (GRCm39) |
N442K |
probably benign |
Het |
| Serpini2 |
T |
A |
3: 75,153,820 (GRCm39) |
T380S |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,901,214 (GRCm39) |
W818R |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,542,869 (GRCm39) |
C185S |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,572,659 (GRCm39) |
V674A |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,950,516 (GRCm39) |
M312K |
possibly damaging |
Het |
| Slc46a3 |
A |
G |
5: 147,823,566 (GRCm39) |
L92S |
probably damaging |
Het |
| Son |
T |
C |
16: 91,452,587 (GRCm39) |
S445P |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,090,484 (GRCm39) |
F351L |
probably benign |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Tmem248 |
T |
A |
5: 130,269,238 (GRCm39) |
L277H |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,838,757 (GRCm39) |
H698L |
probably benign |
Het |
| Ushbp1 |
A |
G |
8: 71,847,799 (GRCm39) |
V24A |
possibly damaging |
Het |
| Usp24 |
G |
T |
4: 106,256,309 (GRCm39) |
|
probably null |
Het |
| Vmn2r50 |
T |
G |
7: 9,786,970 (GRCm39) |
I46L |
probably benign |
Het |
| Zfp106 |
T |
C |
2: 120,365,208 (GRCm39) |
T423A |
probably benign |
Het |
| Zfp663 |
T |
A |
2: 165,195,113 (GRCm39) |
T369S |
probably benign |
Het |
| Zmynd11 |
T |
C |
13: 9,740,953 (GRCm39) |
T382A |
probably 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 |
|
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 |
|
|
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'- TCAATGTCAGAACTGAGGCAGG -3'
(R):5'- GAGACCTCTGTGTTGCTTCCTG -3'
Sequencing Primer
(F):5'- CAGGGAAATTGAGCCTGTTCC -3'
(R):5'- TGTACTGGTTTCTCCTCAGTTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation