Incidental Mutation 'R2858:Pask'
| ID |
252536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pask
|
| Ensembl Gene |
ENSMUSG00000026274 |
| Gene Name |
PAS domain containing serine/threonine kinase |
| Synonyms |
Paskin |
| MMRRC Submission |
040448-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R2858 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93249373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 676
(Y676H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
|
| AlphaFold |
Q8CEE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027493
AA Change: Y676H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: Y676H
| 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
|
| Meta Mutation Damage Score |
0.0640 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (37/37) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
T |
A |
5: 107,693,667 (GRCm39) |
F95I |
probably benign |
Het |
| Abcg5 |
A |
G |
17: 84,977,648 (GRCm39) |
|
probably null |
Het |
| Amfr |
A |
T |
8: 94,731,842 (GRCm39) |
N11K |
probably damaging |
Het |
| Bltp3a |
G |
T |
17: 28,104,436 (GRCm39) |
R494L |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,218,432 (GRCm39) |
|
probably null |
Het |
| Chd4 |
A |
G |
6: 125,081,849 (GRCm39) |
K481R |
probably damaging |
Het |
| Cyp2a22 |
T |
C |
7: 26,633,687 (GRCm39) |
Y341C |
probably damaging |
Het |
| Ddb2 |
T |
C |
2: 91,047,022 (GRCm39) |
T338A |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,174,599 (GRCm39) |
V2038A |
possibly damaging |
Het |
| Fbxo36 |
A |
G |
1: 84,874,316 (GRCm39) |
K104R |
probably benign |
Het |
| Fmo9 |
A |
C |
1: 166,501,236 (GRCm39) |
F237C |
probably damaging |
Het |
| Helz |
G |
A |
11: 107,563,753 (GRCm39) |
|
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,722 (GRCm39) |
I245K |
probably benign |
Het |
| Ighv1-22 |
T |
C |
12: 114,709,918 (GRCm39) |
D109G |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,401,548 (GRCm39) |
R376G |
possibly damaging |
Het |
| Lrrc66 |
T |
A |
5: 73,764,646 (GRCm39) |
E799V |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,867,362 (GRCm39) |
N793I |
probably damaging |
Het |
| Nexn |
C |
T |
3: 151,953,680 (GRCm39) |
E247K |
probably damaging |
Het |
| Ntmt1 |
A |
G |
2: 30,712,377 (GRCm39) |
H140R |
probably damaging |
Het |
| Or11g27 |
T |
A |
14: 50,770,897 (GRCm39) |
N9K |
probably benign |
Het |
| Or3a10 |
C |
T |
11: 73,935,653 (GRCm39) |
G149D |
possibly damaging |
Het |
| Or9e1 |
T |
A |
11: 58,732,708 (GRCm39) |
V256E |
probably benign |
Het |
| Polq |
T |
A |
16: 36,883,115 (GRCm39) |
F1760I |
possibly damaging |
Het |
| Ppp1r1b |
T |
C |
11: 98,246,145 (GRCm39) |
|
probably benign |
Het |
| Psmf1 |
A |
G |
2: 151,571,456 (GRCm39) |
L169P |
probably damaging |
Het |
| Rcbtb1 |
T |
A |
14: 59,458,861 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
C |
A |
10: 81,335,073 (GRCm39) |
A134S |
probably damaging |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc24a1 |
T |
C |
9: 64,856,614 (GRCm39) |
I98V |
unknown |
Het |
| Slc6a21 |
G |
A |
7: 44,929,952 (GRCm39) |
A147T |
possibly damaging |
Het |
| Sycp3 |
A |
G |
10: 88,303,234 (GRCm39) |
E166G |
probably damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,217,090 (GRCm39) |
I474N |
probably damaging |
Het |
| Zfp1007 |
T |
C |
5: 109,823,819 (GRCm39) |
T544A |
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 |
|
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'- AGCTTGACTTGGATAACTGTTCC -3'
(R):5'- AAGCAAGTCCAAACCAGTGG -3'
Sequencing Primer
(F):5'- CTGTTCCTTAATCAAGCAAGTCTG -3'
(R):5'- CATGTGAAGATTCTGAGCCTCTAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation