Incidental Mutation 'R9061:Pask'
ID |
688954 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pask
|
Ensembl Gene |
ENSMUSG00000026274 |
Gene Name |
PAS domain containing serine/threonine kinase |
Synonyms |
Paskin |
MMRRC Submission |
068887-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R9061 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 93253191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 399
(Q399*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
|
AlphaFold |
Q8CEE6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027493
AA Change: Q399*
|
SMART Domains |
Protein: ENSMUSP00000027493 Gene: ENSMUSG00000026274 AA Change: Q399*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (60/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930518I15Rik |
A |
G |
2: 156,699,133 (GRCm39) |
M1T |
probably null |
Het |
Abca13 |
A |
G |
11: 9,227,847 (GRCm39) |
E630G |
probably benign |
Het |
Abcf2 |
T |
A |
5: 24,778,504 (GRCm39) |
H218L |
possibly damaging |
Het |
Abo |
A |
T |
2: 26,733,395 (GRCm39) |
M268K |
probably benign |
Het |
Ankrd33 |
G |
T |
15: 101,014,029 (GRCm39) |
|
probably benign |
Het |
Apc |
G |
C |
18: 34,446,251 (GRCm39) |
R1049T |
probably damaging |
Het |
Atg16l2 |
T |
C |
7: 100,941,338 (GRCm39) |
K412E |
probably damaging |
Het |
Cachd1 |
G |
A |
4: 100,809,202 (GRCm39) |
|
probably null |
Het |
Ccdc152 |
T |
G |
15: 3,330,643 (GRCm39) |
K11Q |
probably damaging |
Het |
Ccdc38 |
T |
A |
10: 93,401,735 (GRCm39) |
W232R |
probably damaging |
Het |
Cluh |
C |
T |
11: 74,551,192 (GRCm39) |
P347L |
possibly damaging |
Het |
Cntn3 |
A |
G |
6: 102,314,288 (GRCm39) |
L142P |
probably damaging |
Het |
Ctnnd2 |
T |
A |
15: 30,806,884 (GRCm39) |
M601K |
probably damaging |
Het |
D930048N14Rik |
G |
A |
11: 51,545,734 (GRCm39) |
D209N |
unknown |
Het |
Dcaf6 |
A |
T |
1: 165,164,332 (GRCm39) |
N814K |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,632,406 (GRCm39) |
D455V |
possibly damaging |
Het |
Fcna |
A |
C |
2: 25,514,956 (GRCm39) |
L301W |
possibly damaging |
Het |
Garin1b |
C |
T |
6: 29,323,902 (GRCm39) |
T209I |
probably benign |
Het |
Gdf9 |
T |
G |
11: 53,324,269 (GRCm39) |
C13G |
probably damaging |
Het |
Hells |
T |
A |
19: 38,933,858 (GRCm39) |
N226K |
probably damaging |
Het |
Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
Ifi207 |
A |
T |
1: 173,564,153 (GRCm39) |
|
probably benign |
Het |
Ighv16-1 |
A |
T |
12: 114,032,504 (GRCm39) |
Y99* |
probably null |
Het |
Kirrel2 |
T |
C |
7: 30,150,305 (GRCm39) |
I508V |
probably benign |
Het |
Klhl38 |
T |
A |
15: 58,186,022 (GRCm39) |
I236F |
probably damaging |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Lamc1 |
A |
T |
1: 153,126,870 (GRCm39) |
C425* |
probably null |
Het |
Letm1 |
A |
G |
5: 33,918,213 (GRCm39) |
F311L |
probably damaging |
Het |
Lypd11 |
A |
T |
7: 24,422,173 (GRCm39) |
I192N |
possibly damaging |
Het |
Mapk8ip2 |
T |
C |
15: 89,342,016 (GRCm39) |
V409A |
possibly damaging |
Het |
Mybpc1 |
C |
T |
10: 88,391,501 (GRCm39) |
C318Y |
probably damaging |
Het |
Myo15a |
A |
G |
11: 60,393,692 (GRCm39) |
Y1141C |
|
Het |
Ndufv2 |
T |
A |
17: 66,390,475 (GRCm39) |
D165V |
probably damaging |
Het |
Nrde2 |
T |
C |
12: 100,110,123 (GRCm39) |
K303E |
probably benign |
Het |
Nup205 |
T |
A |
6: 35,196,808 (GRCm39) |
|
probably benign |
Het |
Or1j12 |
A |
G |
2: 36,342,897 (GRCm39) |
Q100R |
probably damaging |
Het |
Or2f2 |
A |
T |
6: 42,767,141 (GRCm39) |
H56L |
probably damaging |
Het |
Or5b118 |
A |
G |
19: 13,448,523 (GRCm39) |
N21S |
probably damaging |
Het |
Otof |
C |
T |
5: 30,546,001 (GRCm39) |
V451I |
possibly damaging |
Het |
Pbk |
T |
A |
14: 66,049,439 (GRCm39) |
F39I |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,374,753 (GRCm39) |
K1794R |
possibly damaging |
Het |
Pibf1 |
T |
C |
14: 99,424,069 (GRCm39) |
|
probably null |
Het |
Ppip5k2 |
G |
A |
1: 97,645,187 (GRCm39) |
T1089I |
probably damaging |
Het |
Ppp1cb |
T |
A |
5: 32,635,492 (GRCm39) |
F45L |
possibly damaging |
Het |
Pramel21 |
T |
G |
4: 143,342,741 (GRCm39) |
S283A |
possibly damaging |
Het |
Samd4 |
T |
C |
14: 47,301,728 (GRCm39) |
F344S |
probably damaging |
Het |
Slc2a13 |
C |
T |
15: 91,234,333 (GRCm39) |
M334I |
possibly damaging |
Het |
Slc37a1 |
C |
T |
17: 31,556,365 (GRCm39) |
A363V |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,263,540 (GRCm39) |
I616F |
probably damaging |
Het |
Srcin1 |
A |
G |
11: 97,427,206 (GRCm39) |
L257P |
probably damaging |
Het |
Tarbp1 |
A |
G |
8: 127,173,880 (GRCm39) |
F945L |
probably damaging |
Het |
Thbs4 |
A |
T |
13: 92,911,187 (GRCm39) |
|
probably null |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Trim62 |
G |
A |
4: 128,802,963 (GRCm39) |
V338M |
probably damaging |
Het |
Ttll9 |
C |
T |
2: 152,818,113 (GRCm39) |
H20Y |
possibly damaging |
Het |
Uevld |
A |
T |
7: 46,587,806 (GRCm39) |
I298N |
probably damaging |
Het |
Zan |
T |
C |
5: 137,462,653 (GRCm39) |
E842G |
probably damaging |
Het |
Zdbf2 |
T |
G |
1: 63,346,296 (GRCm39) |
S1558R |
|
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 |
|
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 |
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'- AGGACAGAGCCTCTCATTGC -3'
(R):5'- TGAACTGTTCATTCACATTGCTGC -3'
Sequencing Primer
(F):5'- AAAGGTCACTAGGGGCCTCTG -3'
(R):5'- GCTATTCTCATTTTCCAAGGAGG -3'
|
Posted On |
2021-11-19 |