Incidental Mutation 'R0217:Pank3'
ID 33626
Institutional Source Beutler Lab
Gene Symbol Pank3
Ensembl Gene ENSMUSG00000018846
Gene Name pantothenate kinase 3
Synonyms
MMRRC Submission 038466-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # R0217 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 11
Chromosomal Location 35660322-35682112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35668555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 181 (D181E)
Ref Sequence ENSEMBL: ENSMUSP00000018990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018990]
AlphaFold Q8R2W9
Predicted Effect probably benign
Transcript: ENSMUST00000018990
AA Change: D181E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000018990
Gene: ENSMUSG00000018846
AA Change: D181E

DomainStartEndE-ValueType
Pfam:Fumble 13 365 1e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083619
Meta Mutation Damage Score 0.0722 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (62/62)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 T C 7: 143,447,956 (GRCm39) probably benign Het
Actr3 A G 1: 125,335,150 (GRCm39) probably benign Het
Adamts13 A G 2: 26,886,933 (GRCm39) probably benign Het
Afap1l1 A G 18: 61,879,940 (GRCm39) V310A probably damaging Het
Alms1 T A 6: 85,599,912 (GRCm39) S2048R probably damaging Het
Aspm T A 1: 139,385,618 (GRCm39) S421T possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccdc150 T G 1: 54,339,589 (GRCm39) S478A possibly damaging Het
Ccnyl1 T A 1: 64,752,257 (GRCm39) probably benign Het
Cdc23 T C 18: 34,784,718 (GRCm39) T15A unknown Het
Cdk19 C T 10: 40,352,254 (GRCm39) probably benign Het
Comp A C 8: 70,831,558 (GRCm39) D420A probably damaging Het
Ctnnal1 T C 4: 56,813,230 (GRCm39) H667R probably benign Het
Cyp20a1 C A 1: 60,382,625 (GRCm39) probably benign Het
Eci3 A C 13: 35,132,072 (GRCm39) S259A probably benign Het
Fcnb T C 2: 27,969,689 (GRCm39) D126G probably benign Het
Foxk1 T C 5: 142,387,649 (GRCm39) M124T possibly damaging Het
Gm12790 T C 4: 101,825,231 (GRCm39) Y61C probably damaging Het
Hmgcr A C 13: 96,788,488 (GRCm39) I777S probably damaging Het
Hsdl2 A G 4: 59,597,311 (GRCm39) E100G probably damaging Het
Itgb2 G T 10: 77,384,370 (GRCm39) probably benign Het
Jak2 T A 19: 29,274,050 (GRCm39) probably null Het
Lrba T C 3: 86,550,029 (GRCm39) S2333P probably damaging Het
Man1a2 A G 3: 100,524,353 (GRCm39) L365P possibly damaging Het
Map2k5 A T 9: 63,164,257 (GRCm39) probably null Het
Mcc C G 18: 44,652,583 (GRCm39) probably benign Het
Megf8 T A 7: 25,063,504 (GRCm39) L2620Q probably damaging Het
Nf1 A T 11: 79,319,400 (GRCm39) probably benign Het
Or11h7 A G 14: 50,891,552 (GRCm39) N286S probably damaging Het
Or1e30 T A 11: 73,678,214 (GRCm39) V150E possibly damaging Het
Or5p1 C A 7: 107,916,505 (GRCm39) H135N probably benign Het
Pip5k1a A G 3: 94,981,302 (GRCm39) probably null Het
Plag1 A C 4: 3,904,379 (GRCm39) S271A probably benign Het
Plxna2 T A 1: 194,326,906 (GRCm39) I280N probably damaging Het
Polr1a T C 6: 71,940,687 (GRCm39) V1007A probably benign Het
Ppm1h T A 10: 122,756,640 (GRCm39) D428E probably damaging Het
Prelid2 A T 18: 42,068,317 (GRCm39) probably benign Het
Ptk2b T C 14: 66,393,830 (GRCm39) Y881C probably damaging Het
Rptor T C 11: 119,785,738 (GRCm39) probably benign Het
Sbno1 T C 5: 124,542,387 (GRCm39) probably null Het
Scaf4 T C 16: 90,039,570 (GRCm39) D843G probably damaging Het
Serpina3b C T 12: 104,096,986 (GRCm39) A89V probably damaging Het
Serpinb9d C A 13: 33,382,005 (GRCm39) T158N possibly damaging Het
Slc39a10 C T 1: 46,874,700 (GRCm39) V201I probably benign Het
Slc6a13 T A 6: 121,301,279 (GRCm39) N189K probably damaging Het
Smco1 G T 16: 32,092,599 (GRCm39) R90L possibly damaging Het
Stim1 T A 7: 102,085,007 (GRCm39) M653K probably benign Het
Stxbp1 T C 2: 32,691,882 (GRCm39) S437G possibly damaging Het
Stxbp3-ps T G 19: 9,536,496 (GRCm39) noncoding transcript Het
Tgtp1 A C 11: 48,878,146 (GRCm39) S186R probably benign Het
Trpc7 C T 13: 56,937,581 (GRCm39) W570* probably null Het
Trpv4 C A 5: 114,772,722 (GRCm39) R289L possibly damaging Het
Vmn2r82 A G 10: 79,214,634 (GRCm39) M206V possibly damaging Het
Wdr47 T A 3: 108,544,336 (GRCm39) V653E probably damaging Het
Zfp113 T C 5: 138,148,953 (GRCm39) R64G probably benign Het
Zfp661 C T 2: 127,419,211 (GRCm39) E310K probably damaging Het
Zfp735 T A 11: 73,602,112 (GRCm39) I352N possibly damaging Het
Zswim4 A G 8: 84,939,293 (GRCm39) L863P probably damaging Het
Zzef1 T A 11: 72,779,894 (GRCm39) I1889N probably damaging Het
Other mutations in Pank3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03109:Pank3 APN 11 35,668,501 (GRCm39) missense probably benign 0.04
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
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'- GCCAAGTGCGTGAAACCAATCC -3'
(R):5'- GCTGGGCAACAGTTTAAGAGCCTC -3'

Sequencing Primer
(F):5'- TGCGTGAAACCAATCCTAGAG -3'
(R):5'- TTTGTTCTCCCAGCACCAAAAC -3'
Posted On 2013-05-09