Incidental Mutation 'R1052:Pask'
| ID |
94005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pask
|
| Ensembl Gene |
ENSMUSG00000026274 |
| Gene Name |
PAS domain containing serine/threonine kinase |
| Synonyms |
Paskin |
| MMRRC Submission |
039142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R1052 (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 93258549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 266
(D266E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
|
| AlphaFold |
Q8CEE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027493
AA Change: D266E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: D266E
| 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: ENSMUST00000139028
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,535,417 (GRCm39) |
Y528F |
possibly damaging |
Het |
| Acad10 |
G |
A |
5: 121,787,604 (GRCm39) |
T115I |
possibly damaging |
Het |
| Adam19 |
T |
C |
11: 46,018,092 (GRCm39) |
F385L |
probably damaging |
Het |
| Adgb |
T |
C |
10: 10,318,357 (GRCm39) |
N162D |
probably benign |
Het |
| Arhgap20 |
C |
A |
9: 51,757,570 (GRCm39) |
P521T |
probably damaging |
Het |
| Arsa |
A |
T |
15: 89,359,380 (GRCm39) |
L134Q |
probably damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,925,921 (GRCm39) |
Y508C |
probably damaging |
Het |
| AW554918 |
G |
A |
18: 25,553,067 (GRCm39) |
M287I |
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,621,360 (GRCm39) |
K395E |
probably damaging |
Het |
| Cacna2d4 |
A |
G |
6: 119,277,294 (GRCm39) |
Y669C |
probably damaging |
Het |
| Casq2 |
T |
C |
3: 102,051,550 (GRCm39) |
|
probably null |
Het |
| Cdk5rap1 |
A |
T |
2: 154,202,519 (GRCm39) |
I237N |
possibly damaging |
Het |
| Cerk |
G |
C |
15: 86,033,565 (GRCm39) |
S286C |
possibly damaging |
Het |
| Cir1 |
A |
C |
2: 73,117,987 (GRCm39) |
L186R |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,936,781 (GRCm39) |
|
probably null |
Het |
| Cyp3a41a |
A |
T |
5: 145,642,621 (GRCm39) |
I246K |
possibly damaging |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,348 (GRCm39) |
F328S |
possibly damaging |
Het |
| Dzank1 |
A |
T |
2: 144,355,365 (GRCm39) |
V110D |
probably benign |
Het |
| Gm6729 |
T |
A |
10: 86,376,799 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,604,246 (GRCm39) |
F246L |
probably benign |
Het |
| Gnpat |
T |
A |
8: 125,605,255 (GRCm39) |
L248H |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,834,266 (GRCm39) |
T163A |
probably benign |
Het |
| Hspa5 |
A |
G |
2: 34,665,110 (GRCm39) |
T424A |
probably damaging |
Het |
| Itgb1 |
T |
G |
8: 129,439,786 (GRCm39) |
D158E |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,819,853 (GRCm39) |
V1637A |
probably benign |
Het |
| Kl |
G |
T |
5: 150,905,985 (GRCm39) |
V452F |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,369,045 (GRCm39) |
N416S |
probably benign |
Het |
| Lama4 |
A |
T |
10: 38,968,241 (GRCm39) |
H1461L |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,818,814 (GRCm39) |
T1180A |
probably benign |
Het |
| Mboat2 |
T |
C |
12: 24,996,527 (GRCm39) |
Y145H |
probably damaging |
Het |
| Mlxipl |
T |
A |
5: 135,142,564 (GRCm39) |
I126N |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,620,181 (GRCm39) |
N1577K |
possibly damaging |
Het |
| Nlrp4f |
A |
G |
13: 65,332,897 (GRCm39) |
V87A |
possibly damaging |
Het |
| Or5al5 |
A |
G |
2: 85,961,915 (GRCm39) |
F31L |
probably benign |
Het |
| Or6p1 |
A |
T |
1: 174,258,701 (GRCm39) |
K236* |
probably null |
Het |
| Pcdhb17 |
A |
G |
18: 37,619,899 (GRCm39) |
Y563C |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,349,837 (GRCm39) |
I49N |
probably damaging |
Het |
| Pla2g4c |
T |
A |
7: 13,077,334 (GRCm39) |
V292E |
possibly damaging |
Het |
| Pramel23 |
T |
C |
4: 143,423,477 (GRCm39) |
I437M |
possibly damaging |
Het |
| Prrt4 |
G |
T |
6: 29,169,813 (GRCm39) |
Q880K |
possibly damaging |
Het |
| Pygb |
A |
G |
2: 150,628,858 (GRCm39) |
D24G |
probably benign |
Het |
| R3hcc1l |
T |
A |
19: 42,552,093 (GRCm39) |
D363E |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,001,574 (GRCm39) |
Q1676P |
probably benign |
Het |
| Ryr1 |
C |
A |
7: 28,795,683 (GRCm39) |
R1069L |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc2a13 |
A |
G |
15: 91,296,363 (GRCm39) |
V317A |
probably damaging |
Het |
| Slc35b4 |
A |
T |
6: 34,138,619 (GRCm39) |
F197I |
probably damaging |
Het |
| Tchhl1 |
G |
A |
3: 93,377,520 (GRCm39) |
V75I |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,182,771 (GRCm39) |
S3521P |
possibly damaging |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp335 |
GTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTC |
2: 164,749,388 (GRCm39) |
|
probably benign |
Het |
| Zfp874a |
T |
G |
13: 67,590,539 (GRCm39) |
I382L |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTGCTCCATCCAAGAATGACCC -3'
(R):5'- AAGCCCATGACATGCCTCTTGCAC -3'
Sequencing Primer
(F):5'- agagtggggtggggagg -3'
(R):5'- agctgtcttcagatacactcc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation