Incidental Mutation 'R7161:Pask'
ID |
557543 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pask
|
Ensembl Gene |
ENSMUSG00000026274 |
Gene Name |
PAS domain containing serine/threonine kinase |
Synonyms |
Paskin |
MMRRC Submission |
045260-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R7161 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93238627 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 1286
(S1286N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027492]
[ENSMUST00000027493]
|
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: S1286N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027493 Gene: ENSMUSG00000026274 AA Change: S1286N
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 |
|
Meta Mutation Damage Score |
0.0759 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (75/75) |
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 |
Abca8a |
T |
A |
11: 109,964,968 (GRCm39) |
Q443L |
probably benign |
Het |
Acad12 |
A |
T |
5: 121,745,436 (GRCm39) |
M285K |
probably damaging |
Het |
Afdn |
T |
A |
17: 14,109,208 (GRCm39) |
M1592K |
possibly damaging |
Het |
Bpifb9b |
A |
T |
2: 154,155,535 (GRCm39) |
T345S |
possibly damaging |
Het |
Bub1b |
A |
G |
2: 118,456,534 (GRCm39) |
E526G |
probably damaging |
Het |
Car13 |
A |
G |
3: 14,710,268 (GRCm39) |
D70G |
probably benign |
Het |
Castor2 |
C |
A |
5: 134,164,029 (GRCm39) |
T75N |
probably damaging |
Het |
Ccdc127 |
A |
T |
13: 74,500,996 (GRCm39) |
L4F |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Ccr10 |
A |
G |
11: 101,065,104 (GRCm39) |
I142T |
probably benign |
Het |
Cep126 |
C |
T |
9: 8,087,400 (GRCm39) |
V1005M |
probably benign |
Het |
Chil6 |
A |
G |
3: 106,301,728 (GRCm39) |
I124T |
probably benign |
Het |
Coq8a |
A |
G |
1: 179,997,906 (GRCm39) |
|
probably null |
Het |
Ctf2 |
T |
A |
7: 127,318,476 (GRCm39) |
K174N |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,844,209 (GRCm39) |
V76A |
possibly damaging |
Het |
Disp1 |
A |
G |
1: 182,869,189 (GRCm39) |
M1077T |
possibly damaging |
Het |
Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
Dnah9 |
T |
A |
11: 65,746,198 (GRCm39) |
K3972* |
probably null |
Het |
Dnai4 |
G |
A |
4: 102,953,813 (GRCm39) |
P129S |
probably benign |
Het |
Dusp7 |
T |
A |
9: 106,246,114 (GRCm39) |
S40T |
unknown |
Het |
Emg1 |
T |
C |
6: 124,682,712 (GRCm39) |
T88A |
probably benign |
Het |
Fbxo5 |
A |
G |
10: 5,752,043 (GRCm39) |
V190A |
possibly damaging |
Het |
Fbxw20 |
T |
G |
9: 109,055,048 (GRCm39) |
D167A |
probably damaging |
Het |
Fes |
A |
T |
7: 80,030,609 (GRCm39) |
V562E |
probably damaging |
Het |
Foxj1 |
C |
G |
11: 116,223,234 (GRCm39) |
G190R |
probably damaging |
Het |
Gdf15 |
T |
G |
8: 71,083,992 (GRCm39) |
S91R |
possibly damaging |
Het |
Gm4846 |
C |
A |
1: 166,314,579 (GRCm39) |
V355F |
probably damaging |
Het |
Herc4 |
T |
A |
10: 63,144,194 (GRCm39) |
Y776N |
probably benign |
Het |
Hspg2 |
G |
A |
4: 137,242,030 (GRCm39) |
R588H |
probably damaging |
Het |
Igkv6-25 |
T |
A |
6: 70,192,762 (GRCm39) |
Y56* |
probably null |
Het |
Itpr1 |
C |
T |
6: 108,363,601 (GRCm39) |
A741V |
probably damaging |
Het |
Kbtbd8 |
T |
A |
6: 95,103,677 (GRCm39) |
I519K |
probably benign |
Het |
Kcnh5 |
T |
A |
12: 74,944,483 (GRCm39) |
Q922L |
probably benign |
Het |
Kiss1r |
T |
C |
10: 79,755,323 (GRCm39) |
Y103H |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,901,266 (GRCm39) |
E989G |
possibly damaging |
Het |
Lamc1 |
A |
T |
1: 153,102,200 (GRCm39) |
L1466Q |
probably damaging |
Het |
Lap3 |
C |
T |
5: 45,655,809 (GRCm39) |
P138L |
probably benign |
Het |
Lhx1 |
G |
A |
11: 84,410,698 (GRCm39) |
P300S |
probably damaging |
Het |
Mppe1 |
G |
A |
18: 67,362,842 (GRCm39) |
A131V |
probably benign |
Het |
Neb |
A |
T |
2: 52,161,604 (GRCm39) |
Y2063N |
probably damaging |
Het |
Nfe2l1 |
A |
G |
11: 96,708,546 (GRCm39) |
F740L |
probably benign |
Het |
Nop10 |
A |
G |
2: 112,092,391 (GRCm39) |
N8S |
probably benign |
Het |
Opalin |
T |
A |
19: 41,058,374 (GRCm39) |
T20S |
possibly damaging |
Het |
Or8h7 |
A |
C |
2: 86,720,993 (GRCm39) |
H175Q |
probably benign |
Het |
Pcdhgc4 |
A |
T |
18: 37,948,716 (GRCm39) |
E44V |
probably damaging |
Het |
Pde1a |
A |
G |
2: 79,695,558 (GRCm39) |
M463T |
probably benign |
Het |
Pde6a |
A |
T |
18: 61,414,596 (GRCm39) |
M714L |
probably benign |
Het |
Pik3c2b |
A |
G |
1: 133,033,850 (GRCm39) |
E1618G |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,050,658 (GRCm39) |
N234S |
probably damaging |
Het |
Ptprm |
T |
A |
17: 67,116,622 (GRCm39) |
T886S |
probably benign |
Het |
Rab11fip3 |
C |
A |
17: 26,288,064 (GRCm39) |
D30Y |
probably benign |
Het |
Rassf10 |
A |
T |
7: 112,553,707 (GRCm39) |
I103F |
probably damaging |
Het |
Rfc4 |
A |
G |
16: 22,934,183 (GRCm39) |
I206T |
probably benign |
Het |
Rhcg |
A |
G |
7: 79,267,189 (GRCm39) |
F29S |
probably damaging |
Het |
Sec11c |
A |
G |
18: 65,945,803 (GRCm39) |
I89V |
probably benign |
Het |
Serac1 |
T |
C |
17: 6,115,351 (GRCm39) |
D204G |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,200,892 (GRCm39) |
N175S |
probably null |
Het |
Slc25a19 |
C |
T |
11: 115,507,373 (GRCm39) |
E250K |
possibly damaging |
Het |
Slc9a8 |
A |
T |
2: 167,307,303 (GRCm39) |
Y329F |
possibly damaging |
Het |
Smagp |
T |
C |
15: 100,534,126 (GRCm39) |
|
probably benign |
Het |
Spats1 |
T |
A |
17: 45,760,095 (GRCm39) |
Q268H |
probably benign |
Het |
Spef2 |
T |
C |
15: 9,717,689 (GRCm39) |
T219A |
probably benign |
Het |
Spink13 |
A |
G |
18: 62,748,026 (GRCm39) |
M11T |
probably benign |
Het |
Susd1 |
T |
C |
4: 59,329,581 (GRCm39) |
D669G |
possibly damaging |
Het |
Svep1 |
A |
G |
4: 58,128,859 (GRCm39) |
Y613H |
possibly damaging |
Het |
Tcp10b |
T |
C |
17: 13,300,633 (GRCm39) |
*439Q |
probably null |
Het |
Tmed2 |
T |
A |
5: 124,684,983 (GRCm39) |
M133K |
possibly damaging |
Het |
Trpv5 |
A |
T |
6: 41,637,470 (GRCm39) |
Y370* |
probably null |
Het |
Ttn |
A |
G |
2: 76,642,588 (GRCm39) |
S13316P |
probably damaging |
Het |
Uap1l1 |
A |
T |
2: 25,253,292 (GRCm39) |
M381K |
probably damaging |
Het |
Wdr26 |
A |
G |
1: 181,030,695 (GRCm39) |
Y200H |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,309,143 (GRCm39) |
M790L |
possibly damaging |
Het |
Zscan25 |
T |
C |
5: 145,223,251 (GRCm39) |
L173P |
probably benign |
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 |
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'- AGGATGGATGATCACCTCCC -3'
(R):5'- GGGCTCATAAATGCATTTCCTGAG -3'
Sequencing Primer
(F):5'- GGATGATCACCTCCCCACCC -3'
(R):5'- TTGATGCCCTAGAACTCC -3'
|
Posted On |
2019-06-26 |