|Institutional Source||Beutler Lab|
|Gene Name||pantothenate kinase 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.259)|
|Stock #||R0662 (G1)|
|Chromosomal Location||35769484-35791285 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 35778650 bp|
|Amino Acid Change||Methionine to Threonine at position 237 (M237T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018990 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018990]|
|Predicted Effect||probably damaging
AA Change: M237T
PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: M237T
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele in combination with either a knock-out of Pank1 or Pank2 exhibit complete embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pank3||
(F):5'- TAGCACACGGTCTCATCGGTCTAC -3'
(R):5'- CCTTGCTCCTCCACTGAGAAATATCAC -3'
(F):5'- TCTTTCAGTGCATACACAGGAG -3'
(R):5'- ttctgtttgctgattgtgcc -3'