Incidental Mutation 'IGL01620:Pask'
ID 92544
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pask
Ensembl Gene ENSMUSG00000026274
Gene Name PAS domain containing serine/threonine kinase
Synonyms Paskin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # IGL01620
Quality Score
Status
Chromosome 1
Chromosomal Location 93237159-93271244 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93237844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 1374 (H1374Q)
Ref Sequence ENSEMBL: ENSMUSP00000027493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027492] [ENSMUST00000027493] [ENSMUST00000112942] [ENSMUST00000112944]
AlphaFold Q8CEE6
Predicted Effect probably benign
Transcript: ENSMUST00000027492
SMART Domains Protein: ENSMUSP00000027492
Gene: ENSMUSG00000026273

DomainStartEndE-ValueType
low complexity region 124 136 N/A INTRINSIC
Mterf 142 172 1.28e2 SMART
Mterf 177 208 1.1e1 SMART
Mterf 213 244 3.89e0 SMART
Mterf 246 274 2.06e2 SMART
low complexity region 323 344 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000027493
AA Change: H1374Q

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: H1374Q

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 probably benign
Transcript: ENSMUST00000112942
SMART Domains Protein: ENSMUSP00000108564
Gene: ENSMUSG00000026273

DomainStartEndE-ValueType
PDB:4FP9|H 50 235 7e-55 PDB
Blast:Mterf 142 167 1e-7 BLAST
Blast:Mterf 178 208 8e-13 BLAST
Blast:Mterf 213 235 6e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000112944
SMART Domains Protein: ENSMUSP00000108566
Gene: ENSMUSG00000026273

DomainStartEndE-ValueType
PDB:4FP9|H 50 235 6e-54 PDB
Blast:Mterf 142 167 6e-8 BLAST
Blast:Mterf 178 208 2e-12 BLAST
Blast:Mterf 213 235 1e-7 BLAST
low complexity region 253 273 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189856
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188069
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,248,385 (GRCm39) V277D probably damaging Het
Akap9 T A 5: 4,010,218 (GRCm39) V325D probably benign Het
Ambra1 A G 2: 91,741,757 (GRCm39) probably null Het
Ano9 A G 7: 140,690,352 (GRCm39) L94P probably damaging Het
Atad3a G T 4: 155,830,535 (GRCm39) T521K probably damaging Het
Bckdk A G 7: 127,504,948 (GRCm39) K126E possibly damaging Het
Bdp1 A T 13: 100,220,713 (GRCm39) probably benign Het
Btbd17 T C 11: 114,686,599 (GRCm39) T26A probably benign Het
Cadps2 G A 6: 23,587,461 (GRCm39) S314L probably benign Het
Ccl8 A T 11: 82,007,435 (GRCm39) Q90L probably damaging Het
Chit1 T C 1: 134,078,257 (GRCm39) V355A probably damaging Het
Col17a1 A G 19: 47,656,978 (GRCm39) I555T possibly damaging Het
Dmwd T A 7: 18,815,159 (GRCm39) probably null Het
Dtna T C 18: 23,758,144 (GRCm39) I483T probably damaging Het
Eloc T A 1: 16,713,502 (GRCm39) probably benign Het
Emc7 T A 2: 112,295,119 (GRCm39) L177H probably damaging Het
Emsy T A 7: 98,275,831 (GRCm39) K352I probably damaging Het
Ermn T C 2: 57,942,502 (GRCm39) E76G probably benign Het
Flot1 A T 17: 36,140,763 (GRCm39) E203V possibly damaging Het
Hsd11b2 A G 8: 106,249,529 (GRCm39) K266R probably benign Het
Iqck A T 7: 118,476,901 (GRCm39) K154M probably damaging Het
Itgb5 T A 16: 33,740,168 (GRCm39) V426E probably damaging Het
Kash5 T C 7: 44,839,384 (GRCm39) D359G probably damaging Het
Kif13a T C 13: 47,018,296 (GRCm39) K53R probably benign Het
Klhl2 A T 8: 65,232,772 (GRCm39) H168Q probably damaging Het
Lpcat2b T C 5: 107,581,759 (GRCm39) Y363H probably damaging Het
Lrp6 A T 6: 134,488,225 (GRCm39) N290K probably damaging Het
Map2k3 T C 11: 60,840,873 (GRCm39) F301L possibly damaging Het
Mns1 A G 9: 72,364,195 (GRCm39) probably benign Het
Nos1 A G 5: 118,043,374 (GRCm39) probably null Het
Or1j17 T A 2: 36,578,550 (GRCm39) C179S probably damaging Het
Or52h7 T A 7: 104,214,220 (GRCm39) V264D probably damaging Het
Pik3r1 G A 13: 101,822,728 (GRCm39) A658V probably damaging Het
Ppp2r2a A T 14: 67,307,726 (GRCm39) F14I probably damaging Het
Ptprc C T 1: 137,996,148 (GRCm39) E904K possibly damaging Het
Rab11fip4 G T 11: 79,582,705 (GRCm39) D591Y possibly damaging Het
Rab3gap2 A G 1: 184,936,523 (GRCm39) T29A probably benign Het
Rgs19 A G 2: 181,331,381 (GRCm39) V84A possibly damaging Het
Shisa6 T G 11: 66,108,705 (GRCm39) M391L probably benign Het
Sipa1l1 G A 12: 82,469,263 (GRCm39) G1254D probably damaging Het
Slfn8 A T 11: 82,895,059 (GRCm39) Y358* probably null Het
Taf3 G T 2: 9,957,472 (GRCm39) R232S probably benign Het
Terb2 T A 2: 122,035,338 (GRCm39) H186Q possibly damaging Het
Trav13n-4 T C 14: 53,601,473 (GRCm39) S81P probably damaging Het
Trim30d G T 7: 104,121,333 (GRCm39) P321T possibly damaging Het
Tyrp1 G T 4: 80,763,039 (GRCm39) G309* probably null Het
Vps13d C A 4: 144,821,437 (GRCm39) G2979V possibly damaging Het
Other mutations in Pask
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Pask APN 1 93,238,574 (GRCm39) missense probably benign 0.02
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
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
Posted On 2013-12-09