Incidental Mutation 'R8321:Pask'
| ID |
641934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pask
|
| Ensembl Gene |
ENSMUSG00000026274 |
| Gene Name |
PAS domain containing serine/threonine kinase |
| Synonyms |
Paskin |
| MMRRC Submission |
067723-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R8321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93248377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 975
(R975C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
|
| AlphaFold |
Q8CEE6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027493
AA Change: R975C
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: R975C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap44 |
A |
G |
11: 64,899,053 (GRCm39) |
V708A |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
| Bank1 |
T |
A |
3: 135,940,395 (GRCm39) |
E329V |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,510,029 (GRCm39) |
A859S |
probably damaging |
Het |
| Cdh11 |
T |
C |
8: 103,361,416 (GRCm39) |
R641G |
probably damaging |
Het |
| Cfap58 |
A |
G |
19: 47,946,586 (GRCm39) |
E373G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,470,024 (GRCm39) |
T529A |
probably benign |
Het |
| Chtf18 |
G |
A |
17: 25,939,865 (GRCm39) |
T747I |
probably benign |
Het |
| Cyp2j6 |
A |
G |
4: 96,441,684 (GRCm39) |
L2P |
probably benign |
Het |
| Cyp4f18 |
G |
A |
8: 72,742,427 (GRCm39) |
P518S |
possibly damaging |
Het |
| Dmrtc1a |
G |
A |
X: 101,952,221 (GRCm39) |
R8W |
probably benign |
Het |
| Dpyd |
T |
C |
3: 118,575,573 (GRCm39) |
V137A |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,736,317 (GRCm39) |
V739A |
probably damaging |
Het |
| Ern2 |
C |
T |
7: 121,772,431 (GRCm39) |
A676T |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,743,686 (GRCm39) |
I241F |
possibly damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,787,138 (GRCm39) |
H524R |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,251 (GRCm39) |
Y118H |
probably damaging |
Het |
| Gfm1 |
C |
T |
3: 67,337,594 (GRCm39) |
A8V |
probably benign |
Het |
| Gfm2 |
C |
T |
13: 97,299,500 (GRCm39) |
T407M |
possibly damaging |
Het |
| Gldc |
G |
A |
19: 30,120,807 (GRCm39) |
Q375* |
probably null |
Het |
| Gm5114 |
A |
G |
7: 39,060,273 (GRCm39) |
I192T |
possibly damaging |
Het |
| Gnb1 |
A |
T |
4: 155,639,482 (GRCm39) |
N237I |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,879,096 (GRCm39) |
P4662S |
possibly damaging |
Het |
| Herc3 |
C |
T |
6: 58,820,754 (GRCm39) |
S46F |
possibly damaging |
Het |
| Hgsnat |
C |
T |
8: 26,461,179 (GRCm39) |
G153E |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
| Invs |
T |
A |
4: 48,283,267 (GRCm39) |
D6E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,628,613 (GRCm39) |
V463A |
probably benign |
Het |
| Jarid2 |
T |
A |
13: 45,001,862 (GRCm39) |
S96R |
probably damaging |
Het |
| Krtap6-1 |
A |
C |
16: 88,828,624 (GRCm39) |
N7H |
unknown |
Het |
| Matn4 |
A |
T |
2: 164,235,207 (GRCm39) |
V455D |
probably damaging |
Het |
| Nbea |
G |
A |
3: 56,090,518 (GRCm39) |
P47S |
possibly damaging |
Het |
| Oit3 |
T |
C |
10: 59,263,982 (GRCm39) |
H384R |
probably benign |
Het |
| Or1e27-ps1 |
G |
A |
11: 73,556,362 (GRCm39) |
R309H |
unknown |
Het |
| Or8b42 |
A |
T |
9: 38,341,850 (GRCm39) |
I91F |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,400,729 (GRCm39) |
D305V |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,821,715 (GRCm39) |
W314* |
probably null |
Het |
| Pate13 |
G |
T |
9: 35,820,749 (GRCm39) |
C111F |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,640,380 (GRCm39) |
N542S |
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sez6l2 |
C |
A |
7: 126,557,588 (GRCm39) |
T334N |
probably damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,001,071 (GRCm39) |
T256A |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,387,609 (GRCm39) |
N545Y |
probably damaging |
Het |
| Sprtn |
A |
T |
8: 125,629,994 (GRCm39) |
D429V |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,140,068 (GRCm39) |
V1389A |
probably damaging |
Het |
| Tecta |
C |
A |
9: 42,284,349 (GRCm39) |
C912F |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 74,024,939 (GRCm39) |
|
probably null |
Het |
| Tprg1l |
A |
G |
4: 154,244,860 (GRCm39) |
V76A |
probably benign |
Het |
| Trav12-2 |
G |
T |
14: 53,853,840 (GRCm39) |
|
probably benign |
Het |
| Trio |
T |
C |
15: 27,881,412 (GRCm39) |
D612G |
possibly damaging |
Het |
| Usp6nl |
A |
T |
2: 6,395,900 (GRCm39) |
Q36H |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,975,544 (GRCm39) |
M167K |
possibly damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,466,187 (GRCm39) |
L2140Q |
probably damaging |
Het |
| Zfp512b |
A |
G |
2: 181,228,931 (GRCm39) |
V678A |
possibly damaging |
Het |
| Zfp800 |
A |
G |
6: 28,242,992 (GRCm39) |
S658P |
probably damaging |
Het |
| Zscan22 |
A |
G |
7: 12,637,625 (GRCm39) |
S6G |
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 |
|
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 |
|
|
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'- AAAAGGCAGTGATGCTACCTG -3'
(R):5'- TCCAAGAGGGCATCTACTCTG -3'
Sequencing Primer
(F):5'- GTGATGCTACCTGAAAAACCTG -3'
(R):5'- GGCATCTACTCTGGAAGCTGCTAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation