Incidental Mutation 'R6396:Pank3'
ID 516009
Institutional Source Beutler Lab
Gene Symbol Pank3
Ensembl Gene ENSMUSG00000018846
Gene Name pantothenate kinase 3
Synonyms
MMRRC Submission 044544-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R6396 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 35660322-35682112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35669516 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 250 (V250A)
Ref Sequence ENSEMBL: ENSMUSP00000018990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018990]
AlphaFold Q8R2W9
Predicted Effect probably damaging
Transcript: ENSMUST00000018990
AA Change: V250A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018990
Gene: ENSMUSG00000018846
AA Change: V250A

DomainStartEndE-ValueType
Pfam:Fumble 13 365 1e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083619
Meta Mutation Damage Score 0.9348 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 97.9%
Validation Efficiency 100% (36/36)
MGI Phenotype 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
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap35 A T 7: 16,296,224 (GRCm39) I947K probably damaging Het
B3galnt2 A T 13: 14,170,333 (GRCm39) I447F probably damaging Het
Cacna2d3 C A 14: 29,118,522 (GRCm39) V134L probably benign Het
Clcn4 C T 7: 7,297,024 (GRCm39) G145S probably damaging Het
Cndp1 A T 18: 84,650,135 (GRCm39) M186K probably benign Het
Cntn6 A G 6: 104,627,461 (GRCm39) Y98C probably damaging Het
Ctsb T C 14: 63,375,550 (GRCm39) V172A probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dyrk1a C A 16: 94,472,299 (GRCm39) Q230K probably damaging Het
Ech1 C T 7: 28,529,763 (GRCm39) probably null Het
Fam81b T A 13: 76,399,968 (GRCm39) R97W probably damaging Het
Heatr1 A G 13: 12,420,978 (GRCm39) E423G possibly damaging Het
Hydin A T 8: 111,233,521 (GRCm39) K1786N probably damaging Het
Igf2r T C 17: 12,932,977 (GRCm39) I848M probably benign Het
Igkv10-96 G A 6: 68,608,969 (GRCm39) Q109* probably null Het
Mup6 T C 4: 60,004,837 (GRCm39) I76T possibly damaging Het
Nmt2 A G 2: 3,315,738 (GRCm39) R243G probably benign Het
Nsd1 G A 13: 55,386,602 (GRCm39) G119D probably damaging Het
Or1ad8 A G 11: 50,898,312 (GRCm39) H171R possibly damaging Het
Or4c113 A G 2: 88,885,641 (GRCm39) I43T probably benign Het
Or4c120 T G 2: 89,001,034 (GRCm39) D174A probably damaging Het
Or51ab3 C T 7: 103,201,888 (GRCm39) Q299* probably null Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh10 A G 3: 45,334,495 (GRCm39) I270V possibly damaging Het
Pnp2 T A 14: 51,200,616 (GRCm39) V94E probably damaging Het
Prdm10 T C 9: 31,229,842 (GRCm39) V86A possibly damaging Het
Resf1 A G 6: 149,229,417 (GRCm39) D821G probably damaging Het
Riox1 G A 12: 83,998,087 (GRCm39) D208N possibly damaging Het
Rrp15 A G 1: 186,469,783 (GRCm39) probably null Het
Skor1 G T 9: 63,052,232 (GRCm39) P579Q probably damaging Het
Slc44a4 T A 17: 35,147,860 (GRCm39) Y481* probably null Het
Smg7 A T 1: 152,724,351 (GRCm39) V610E probably benign Het
Tlx1 A G 19: 45,144,491 (GRCm39) Q71R probably damaging Het
Vmn2r27 A T 6: 124,201,125 (GRCm39) Y277* probably null Het
Zswim2 T A 2: 83,754,062 (GRCm39) R199S probably damaging Het
Other mutations in Pank3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03109:Pank3 APN 11 35,668,501 (GRCm39) missense probably benign 0.04
R0217:Pank3 UTSW 11 35,668,555 (GRCm39) missense probably benign
R0243:Pank3 UTSW 11 35,672,543 (GRCm39) splice site probably benign
R0454:Pank3 UTSW 11 35,668,536 (GRCm39) missense probably benign
R0662:Pank3 UTSW 11 35,669,477 (GRCm39) missense probably damaging 0.96
R1522:Pank3 UTSW 11 35,672,508 (GRCm39) missense probably benign 0.45
R2246:Pank3 UTSW 11 35,674,333 (GRCm39) missense probably benign 0.00
R6905:Pank3 UTSW 11 35,667,239 (GRCm39) missense probably benign 0.01
R8143:Pank3 UTSW 11 35,667,036 (GRCm39) missense probably damaging 1.00
R8514:Pank3 UTSW 11 35,667,186 (GRCm39) missense probably null 0.00
R8784:Pank3 UTSW 11 35,672,412 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGGGTTTGGTTCTACTAAGTAGTC -3'
(R):5'- TGCTCCTCCACTGAGAAATATC -3'

Sequencing Primer
(F):5'- CACATTGGTGTTTAGCATTTACCATG -3'
(R):5'- GCTGATTGTGCCATAACTAGC -3'
Posted On 2018-05-04