Incidental Mutation 'R4527:Pask'
| ID |
334467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pask
|
| Ensembl Gene |
ENSMUSG00000026274 |
| Gene Name |
PAS domain containing serine/threonine kinase |
| Synonyms |
Paskin |
| MMRRC Submission |
041768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R4527 (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 93248224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 1026
(F1026L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
|
| AlphaFold |
Q8CEE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027493
AA Change: F1026L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: F1026L
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (40/40) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
A |
G |
5: 137,682,798 (GRCm39) |
V15A |
unknown |
Het |
| Asb3 |
A |
G |
11: 31,008,933 (GRCm39) |
D278G |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,815,424 (GRCm39) |
I780T |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,963,065 (GRCm39) |
P200L |
probably damaging |
Het |
| Cars1 |
A |
T |
7: 143,118,786 (GRCm39) |
M668K |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cer1 |
A |
G |
4: 82,802,906 (GRCm39) |
F139L |
possibly damaging |
Het |
| Crhr2 |
T |
A |
6: 55,109,838 (GRCm39) |
|
probably benign |
Het |
| Dnah7c |
G |
A |
1: 46,572,091 (GRCm39) |
E855K |
probably benign |
Het |
| Espn |
C |
T |
4: 152,220,106 (GRCm39) |
R339Q |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,293,163 (GRCm39) |
E481V |
probably benign |
Het |
| Gorab |
T |
G |
1: 163,224,705 (GRCm39) |
K32T |
possibly damaging |
Het |
| Mak16 |
G |
A |
8: 31,656,205 (GRCm39) |
Q93* |
probably null |
Het |
| Muc4 |
T |
C |
16: 32,576,217 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,083,249 (GRCm39) |
I5409N |
probably benign |
Het |
| Olfm4 |
C |
T |
14: 80,258,664 (GRCm39) |
S304F |
probably benign |
Het |
| Rab11a |
A |
G |
9: 64,632,850 (GRCm39) |
S19P |
probably benign |
Het |
| Rab11fip3 |
T |
C |
17: 26,255,631 (GRCm39) |
D541G |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,398,210 (GRCm39) |
S108G |
probably damaging |
Het |
| Rps4l-ps |
C |
T |
7: 114,526,403 (GRCm39) |
|
noncoding transcript |
Het |
| Shank1 |
A |
T |
7: 44,004,014 (GRCm39) |
H1902L |
possibly damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,362,627 (GRCm39) |
Y64C |
probably damaging |
Het |
| Sorbs3 |
A |
C |
14: 70,445,066 (GRCm39) |
I4S |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,925,647 (GRCm39) |
N935S |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,499 (GRCm39) |
V525A |
probably damaging |
Het |
| Timm10b |
A |
G |
7: 105,332,013 (GRCm39) |
N828S |
probably benign |
Het |
| Ttyh1 |
A |
T |
7: 4,122,763 (GRCm39) |
D4V |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,371,257 (GRCm39) |
L53Q |
possibly damaging |
Het |
| Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
| Vmn2r70 |
A |
T |
7: 85,208,787 (GRCm39) |
N563K |
probably damaging |
Het |
| Xrcc5 |
C |
A |
1: 72,351,659 (GRCm39) |
N76K |
probably damaging |
Het |
| Zscan25 |
T |
C |
5: 145,220,268 (GRCm39) |
V21A |
probably 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 |
|
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 |
|
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'- CAACCCAAACTGGCTTATGTC -3'
(R):5'- CAGTTTGAAGTCAAGCGTGTGG -3'
Sequencing Primer
(F):5'- CCCAAACTGGCTTATGTCTAAATGC -3'
(R):5'- AAGTCAAGCGTGTGGAGCTCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation