Incidental Mutation 'IGL02499:Pask'
ID |
295949 |
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 # |
IGL02499
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 93248817 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 861
(L861*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
|
AlphaFold |
Q8CEE6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027493
AA Change: L861*
|
SMART Domains |
Protein: ENSMUSP00000027493 Gene: ENSMUSG00000026274 AA Change: L861*
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 |
noncoding transcript
Transcript: ENSMUST00000128655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139028
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
Abcb1a |
A |
G |
5: 8,776,807 (GRCm39) |
N835S |
possibly damaging |
Het |
Abr |
A |
T |
11: 76,399,916 (GRCm39) |
F27Y |
probably benign |
Het |
Adam5 |
C |
T |
8: 25,271,581 (GRCm39) |
|
probably null |
Het |
Alas1 |
A |
T |
9: 106,118,520 (GRCm39) |
Y201N |
probably damaging |
Het |
Aldoart1 |
T |
A |
4: 72,770,476 (GRCm39) |
R111W |
possibly damaging |
Het |
Arhgef25 |
A |
G |
10: 127,021,460 (GRCm39) |
Y253H |
probably damaging |
Het |
Arhgef28 |
G |
T |
13: 98,090,291 (GRCm39) |
A1076E |
possibly damaging |
Het |
Baz2b |
C |
T |
2: 59,731,840 (GRCm39) |
R2066K |
possibly damaging |
Het |
Bdh1 |
G |
T |
16: 31,256,866 (GRCm39) |
R5L |
possibly damaging |
Het |
Brap |
A |
G |
5: 121,817,934 (GRCm39) |
Y358C |
probably damaging |
Het |
Cad |
T |
C |
5: 31,226,948 (GRCm39) |
V1235A |
probably damaging |
Het |
Cadps |
G |
T |
14: 12,822,725 (GRCm38) |
S5* |
probably null |
Het |
Cd200r2 |
A |
G |
16: 44,734,948 (GRCm39) |
T220A |
possibly damaging |
Het |
Cd209e |
T |
A |
8: 3,904,238 (GRCm39) |
M6L |
probably benign |
Het |
Cdh23 |
G |
T |
10: 60,220,958 (GRCm39) |
T1265K |
probably damaging |
Het |
Clec16a |
T |
C |
16: 10,512,540 (GRCm39) |
S828P |
probably benign |
Het |
Dao |
A |
G |
5: 114,152,002 (GRCm39) |
K107E |
possibly damaging |
Het |
Dnah6 |
T |
A |
6: 72,998,210 (GRCm39) |
M4071L |
probably benign |
Het |
Dvl1 |
T |
C |
4: 155,939,237 (GRCm39) |
I250T |
probably benign |
Het |
Dzip3 |
A |
C |
16: 48,754,213 (GRCm39) |
L945V |
probably damaging |
Het |
Gm128 |
A |
G |
3: 95,147,992 (GRCm39) |
S101P |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,539,074 (GRCm39) |
L240P |
probably benign |
Het |
Hecw2 |
A |
G |
1: 53,965,647 (GRCm39) |
I393T |
probably benign |
Het |
Iigp1c |
T |
C |
18: 60,378,710 (GRCm39) |
S82P |
probably damaging |
Het |
Kat14 |
A |
G |
2: 144,235,751 (GRCm39) |
E161G |
probably benign |
Het |
Kcne3 |
A |
C |
7: 99,833,610 (GRCm39) |
I76L |
probably benign |
Het |
Kcnk18 |
A |
T |
19: 59,223,614 (GRCm39) |
Q253L |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,741,806 (GRCm39) |
|
probably benign |
Het |
Lrrc73 |
A |
G |
17: 46,567,915 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
G |
7: 135,296,056 (GRCm39) |
S2993P |
possibly damaging |
Het |
Mto1 |
T |
A |
9: 78,368,794 (GRCm39) |
|
probably benign |
Het |
Myo9a |
T |
A |
9: 59,722,669 (GRCm39) |
|
probably benign |
Het |
Myt1 |
G |
A |
2: 181,467,342 (GRCm39) |
|
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,566,885 (GRCm39) |
T587A |
probably benign |
Het |
Nemf |
T |
A |
12: 69,368,903 (GRCm39) |
I771F |
probably damaging |
Het |
Or10k2 |
T |
A |
8: 84,267,812 (GRCm39) |
V13D |
possibly damaging |
Het |
Or5k16 |
A |
G |
16: 58,736,614 (GRCm39) |
L130P |
probably damaging |
Het |
Or8c10 |
A |
T |
9: 38,278,977 (GRCm39) |
Y45F |
probably benign |
Het |
Papln |
T |
C |
12: 83,827,445 (GRCm39) |
V761A |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,707,896 (GRCm39) |
R859S |
probably benign |
Het |
Ppip5k1 |
C |
T |
2: 121,162,034 (GRCm39) |
|
probably null |
Het |
Ptprs |
A |
G |
17: 56,744,884 (GRCm39) |
V284A |
probably damaging |
Het |
Rasgrp4 |
A |
T |
7: 28,850,928 (GRCm39) |
|
probably benign |
Het |
Rp1 |
T |
C |
1: 4,419,271 (GRCm39) |
I614V |
probably benign |
Het |
Sec23ip |
T |
C |
7: 128,378,640 (GRCm39) |
I818T |
probably damaging |
Het |
Skint11 |
G |
A |
4: 114,051,801 (GRCm39) |
A50T |
probably benign |
Het |
Sqor |
T |
A |
2: 122,650,007 (GRCm39) |
M417K |
possibly damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,426,593 (GRCm39) |
|
probably null |
Het |
Tbc1d8b |
A |
T |
X: 138,613,173 (GRCm39) |
D333V |
probably damaging |
Het |
Tbx2 |
T |
C |
11: 85,731,739 (GRCm39) |
S679P |
possibly damaging |
Het |
Thbs2 |
A |
G |
17: 14,904,328 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,689,795 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
A |
T |
7: 5,493,568 (GRCm39) |
I126N |
probably damaging |
Het |
Zbtb10 |
G |
T |
3: 9,316,800 (GRCm39) |
G204V |
probably damaging |
Het |
Zfp426 |
A |
C |
9: 20,384,414 (GRCm39) |
|
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 |
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 |
2015-04-16 |