Incidental Mutation 'R0662:Pank3'
ID 61912
Institutional Source Beutler Lab
Gene Symbol Pank3
Ensembl Gene ENSMUSG00000018846
Gene Name pantothenate kinase 3
Synonyms
MMRRC Submission 038847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0662 (G1)
Quality Score 197
Status Not validated
Chromosome 11
Chromosomal Location 35660322-35682112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35669477 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 237 (M237T)
Ref Sequence ENSEMBL: ENSMUSP00000018990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018990]
AlphaFold Q8R2W9
Predicted Effect probably damaging
Transcript: ENSMUST00000018990
AA Change: M237T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018990
Gene: ENSMUSG00000018846
AA Change: M237T

DomainStartEndE-ValueType
Pfam:Fumble 13 365 1e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083619
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 91.5%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,898,338 (GRCm39) S241P probably benign Het
Ankrd53 G T 6: 83,740,625 (GRCm39) V83L probably damaging Het
Armcx2 G A X: 133,706,385 (GRCm39) T416I possibly damaging Het
C4b G A 17: 34,949,862 (GRCm39) R1441C probably damaging Het
Cacng3 T C 7: 122,367,582 (GRCm39) I154T probably damaging Het
Cand2 A G 6: 115,764,171 (GRCm39) D315G probably benign Het
Celsr2 A T 3: 108,305,836 (GRCm39) S2089R probably damaging Het
Chd9 A C 8: 91,704,304 (GRCm39) K247Q probably damaging Het
Chi3l1 A C 1: 134,116,311 (GRCm39) S263R probably damaging Het
Clec12b A C 6: 129,353,200 (GRCm39) C262W probably damaging Het
Cpsf7 T C 19: 10,503,372 (GRCm39) M1T probably null Het
Cul3 T C 1: 80,249,282 (GRCm39) D597G probably damaging Het
Dcaf11 T C 14: 55,802,964 (GRCm39) V251A possibly damaging Het
Dennd2b G T 7: 109,156,633 (GRCm39) P39Q probably damaging Het
Eno2 A T 6: 124,740,774 (GRCm39) F218I probably damaging Het
Frmd6 A T 12: 70,946,218 (GRCm39) R549* probably null Het
Fyb2 G A 4: 104,852,895 (GRCm39) S461N possibly damaging Het
Gm5709 A T 3: 59,514,164 (GRCm39) noncoding transcript Het
Hormad1 T C 3: 95,482,910 (GRCm39) I132T probably benign Het
Itga7 G T 10: 128,789,400 (GRCm39) R981L probably damaging Het
Itgbl1 T A 14: 124,065,306 (GRCm39) N153K probably damaging Het
Itih1 T C 14: 30,655,317 (GRCm39) E626G possibly damaging Het
Kat6b AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 14: 21,712,417 (GRCm39) probably benign Het
Kcna2 A T 3: 107,012,717 (GRCm39) T433S probably benign Het
Map4k5 A G 12: 69,859,927 (GRCm39) V673A probably damaging Het
Mmp27 T A 9: 7,577,651 (GRCm39) V281E probably benign Het
Nr2c1 A T 10: 94,026,600 (GRCm39) I492F probably damaging Het
Or14c39 A G 7: 86,343,838 (GRCm39) Y58C possibly damaging Het
Or2ag19 A T 7: 106,443,856 (GRCm39) I13F probably benign Het
Or2r3 C T 6: 42,448,708 (GRCm39) V135M possibly damaging Het
Or2y3 A G 17: 38,393,824 (GRCm39) I15T probably benign Het
Or7d10 G C 9: 19,831,796 (GRCm39) C97S probably damaging Het
Or7e170 T C 9: 19,795,248 (GRCm39) M118V probably benign Het
Or8b47 T A 9: 38,435,322 (GRCm39) M98K probably damaging Het
Plekhh1 A G 12: 79,125,767 (GRCm39) T1268A probably benign Het
Ptchd4 A G 17: 42,813,467 (GRCm39) Y456C probably damaging Het
Rhcg C T 7: 79,249,477 (GRCm39) V310M probably damaging Het
Ryr1 A T 7: 28,799,614 (GRCm39) D906E probably damaging Het
Sez6l A T 5: 112,621,288 (GRCm39) L262Q probably damaging Het
Shprh G A 10: 11,062,591 (GRCm39) V1233I probably damaging Het
Slc3a1 A G 17: 85,344,635 (GRCm39) E267G possibly damaging Het
Slc5a5 T A 8: 71,336,519 (GRCm39) T616S probably benign Het
Syne3 T G 12: 104,927,769 (GRCm39) E318A probably benign Het
Tecpr2 A G 12: 110,862,662 (GRCm39) T25A probably benign Het
Ubxn1 T A 19: 8,852,561 (GRCm39) probably null Het
Unc5b C A 10: 60,608,362 (GRCm39) R616L possibly damaging Het
Ush2a A G 1: 188,083,290 (GRCm39) T278A probably benign Het
Utp14b A G 1: 78,642,716 (GRCm39) T205A probably damaging Het
Vmn1r219 T C 13: 23,347,623 (GRCm39) S271P possibly damaging Het
Vmn2r76 C T 7: 85,879,578 (GRCm39) V241M probably benign Het
Zbtb24 G A 10: 41,338,275 (GRCm39) G429D probably damaging Het
Zdhhc2 T C 8: 40,900,139 (GRCm39) S68P probably damaging Het
Zfp719 G A 7: 43,233,678 (GRCm39) M32I possibly damaging Het
Zfp975 T C 7: 42,311,950 (GRCm39) N221S probably benign 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
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
R6396:Pank3 UTSW 11 35,669,516 (GRCm39) missense probably damaging 1.00
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'- TAGCACACGGTCTCATCGGTCTAC -3'
(R):5'- CCTTGCTCCTCCACTGAGAAATATCAC -3'

Sequencing Primer
(F):5'- TCTTTCAGTGCATACACAGGAG -3'
(R):5'- ttctgtttgctgattgtgcc -3'
Posted On 2013-07-30