Incidental Mutation 'IGL03066:Pask'
ID409704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pask
Ensembl Gene ENSMUSG00000026274
Gene NamePAS domain containing serine/threonine kinase
SynonymsPaskin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL03066
Quality Score
Status
Chromosome1
Chromosomal Location93308770-93343482 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 93330866 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 253 (S253R)
Ref Sequence ENSEMBL: ENSMUSP00000027493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027493]
Predicted Effect probably benign
Transcript: ENSMUST00000027493
AA Change: S253R

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: S253R

DomainStartEndE-ValueType
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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brd4 A C 17: 32,199,088 probably benign Het
Cd209d C A 8: 3,878,437 probably null Het
Cela2a T A 4: 141,821,454 I124F probably damaging Het
Cnot2 A T 10: 116,499,357 N245K probably benign Het
Cpt2 A G 4: 107,907,986 F148L probably benign Het
Ctsj A C 13: 61,004,488 H21Q possibly damaging Het
Cul4a A G 8: 13,133,776 N388S probably benign Het
Dnah12 A G 14: 26,697,398 D147G probably benign Het
Dnhd1 A G 7: 105,719,882 T4287A probably damaging Het
Dock10 C A 1: 80,585,041 C534F probably benign Het
Efcab14 A G 4: 115,738,804 E49G probably benign Het
Fancm G T 12: 65,125,114 E86* probably null Het
Galnt17 A T 5: 130,900,648 S440R probably benign Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Lctl T G 9: 64,117,735 M1R probably null Het
Llgl1 A G 11: 60,706,034 T154A possibly damaging Het
Mink1 G T 11: 70,608,889 V750F probably benign Het
Mroh7 A G 4: 106,692,398 V950A possibly damaging Het
Myg1 G A 15: 102,334,366 probably benign Het
Olfr1265 A T 2: 90,037,434 I172F probably damaging Het
Olfr1415 T A 1: 92,491,583 R57S probably damaging Het
Olfr77 A G 9: 19,920,371 H54R probably benign Het
Pkd1 C A 17: 24,586,234 H3253Q probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Rapgef4 A G 2: 72,141,179 probably benign Het
Rnf169 G T 7: 99,925,553 R612S possibly damaging Het
Sclt1 A T 3: 41,717,843 D104E probably benign Het
Shh G T 5: 28,461,371 D172E probably damaging Het
Sil1 G T 18: 35,269,206 probably benign Het
Slc19a3 A G 1: 83,014,836 I388T probably damaging Het
Spink5 A G 18: 44,016,390 Y946C probably damaging Het
Sulf1 A T 1: 12,807,944 I219F probably damaging Het
Tcf3 T C 10: 80,413,045 D529G probably damaging Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Txnip G A 3: 96,559,618 E203K probably damaging Het
Ubc G T 5: 125,388,263 probably benign Het
Ubxn4 A T 1: 128,260,854 probably null Het
Usp16 T C 16: 87,471,833 V284A probably damaging Het
Vmn2r6 T A 3: 64,565,153 N49I probably damaging Het
Ythdf1 A T 2: 180,911,546 I292N probably damaging Het
Zfp128 A G 7: 12,890,117 I137M probably benign Het
Other mutations in Pask
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Pask APN 1 93310852 missense probably benign 0.02
IGL01620:Pask APN 1 93310122 missense possibly damaging 0.87
IGL01959:Pask APN 1 93334607 missense probably benign 0.03
IGL02170:Pask APN 1 93310884 missense possibly damaging 0.69
IGL02499:Pask APN 1 93321095 nonsense probably null
IGL02670:Pask APN 1 93310818 missense probably damaging 1.00
IGL03210:Pask APN 1 93319992 missense possibly damaging 0.92
R0472:Pask UTSW 1 93320917 missense probably benign 0.00
R0524:Pask UTSW 1 93310834 missense probably damaging 1.00
R0854:Pask UTSW 1 93327400 missense probably damaging 0.99
R0854:Pask UTSW 1 93327412 missense probably damaging 1.00
R0854:Pask UTSW 1 93327434 missense possibly damaging 0.79
R0863:Pask UTSW 1 93314339 missense probably damaging 1.00
R1052:Pask UTSW 1 93330827 missense probably benign 0.00
R1406:Pask UTSW 1 93321651 missense probably benign 0.00
R1406:Pask UTSW 1 93321651 missense probably benign 0.00
R1831:Pask UTSW 1 93320769 splice site probably null
R1958:Pask UTSW 1 93321458 missense probably benign 0.00
R2143:Pask UTSW 1 93321297 missense probably benign 0.00
R2144:Pask UTSW 1 93321297 missense probably benign 0.00
R2145:Pask UTSW 1 93321297 missense probably benign 0.00
R2509:Pask UTSW 1 93330763 missense possibly damaging 0.62
R2858:Pask UTSW 1 93321651 missense probably benign 0.00
R2899:Pask UTSW 1 93334547 missense probably damaging 1.00
R3545:Pask UTSW 1 93317115 missense probably damaging 1.00
R3778:Pask UTSW 1 93327467 missense probably damaging 1.00
R4111:Pask UTSW 1 93310818 missense probably damaging 1.00
R4514:Pask UTSW 1 93322133 missense probably benign 0.03
R4527:Pask UTSW 1 93320502 missense probably benign
R4580:Pask UTSW 1 93322108 missense probably benign 0.36
R4718:Pask UTSW 1 93322196 missense possibly damaging 0.67
R4775:Pask UTSW 1 93337524 missense probably damaging 0.97
R5036:Pask UTSW 1 93322079 nonsense probably null
R5070:Pask UTSW 1 93330874 missense probably damaging 1.00
R5084:Pask UTSW 1 93322097 missense probably benign
R5151:Pask UTSW 1 93334628 missense probably damaging 1.00
R5196:Pask UTSW 1 93310083 unclassified probably benign
R5643:Pask UTSW 1 93337343 critical splice donor site probably null
R5739:Pask UTSW 1 93322056 missense probably benign
R6126:Pask UTSW 1 93314359 missense probably damaging 1.00
R7161:Pask UTSW 1 93310905 missense probably benign
R7284:Pask UTSW 1 93320669 missense probably benign 0.01
R7289:Pask UTSW 1 93331587 missense probably damaging 1.00
R8277:Pask UTSW 1 93325363 critical splice donor site probably null
R8303:Pask UTSW 1 93320564 missense probably benign 0.10
R8309:Pask UTSW 1 93312851 nonsense probably null
R8321:Pask UTSW 1 93320655 missense possibly damaging 0.85
Z1088:Pask UTSW 1 93316801 missense probably damaging 1.00
Z1177:Pask UTSW 1 93335732 missense probably damaging 1.00
Posted On2016-08-02