Incidental Mutation 'IGL03109:Pank3'
ID 419105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pank3
Ensembl Gene ENSMUSG00000018846
Gene Name pantothenate kinase 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # IGL03109
Quality Score
Status
Chromosome 11
Chromosomal Location 35660322-35682112 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35668501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 163 (F163L)
Ref Sequence ENSEMBL: ENSMUSP00000018990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018990]
AlphaFold Q8R2W9
Predicted Effect probably benign
Transcript: ENSMUST00000018990
AA Change: F163L

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000018990
Gene: ENSMUSG00000018846
AA Change: F163L

DomainStartEndE-ValueType
Pfam:Fumble 13 365 1e-118 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083619
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,628 (GRCm39) S96R probably benign Het
Abca6 T A 11: 110,071,173 (GRCm39) H1506L probably damaging Het
Adgrg1 T A 8: 95,734,304 (GRCm39) probably benign Het
Ahi1 A G 10: 20,846,841 (GRCm39) T424A probably benign Het
Birc6 T A 17: 74,886,329 (GRCm39) S552R possibly damaging Het
Bptf T C 11: 106,952,527 (GRCm39) T2172A possibly damaging Het
Commd9 T C 2: 101,727,515 (GRCm39) V103A probably benign Het
Ctnnal1 T A 4: 56,839,045 (GRCm39) D216V probably damaging Het
Dcbld2 A G 16: 58,276,765 (GRCm39) T519A probably benign Het
Dennd6b T C 15: 89,069,188 (GRCm39) probably benign Het
Dnah10 A G 5: 124,841,950 (GRCm39) T1369A probably benign Het
Ect2 T C 3: 27,199,121 (GRCm39) T222A possibly damaging Het
Eef2k G A 7: 120,490,949 (GRCm39) G523E probably damaging Het
Ephb2 T G 4: 136,498,855 (GRCm39) T75P probably damaging Het
Exo1 A T 1: 175,727,126 (GRCm39) N479I probably damaging Het
Fign A G 2: 63,811,006 (GRCm39) L88P possibly damaging Het
Golgb1 T A 16: 36,735,973 (GRCm39) V1740E possibly damaging Het
Icos A G 1: 61,036,856 (GRCm39) probably benign Het
Il6ra C A 3: 89,784,165 (GRCm39) G369* probably null Het
Itpr1 A G 6: 108,394,942 (GRCm39) D83G probably damaging Het
Kdm2a A G 19: 4,379,135 (GRCm39) I560T probably benign Het
Lrp1 C T 10: 127,402,514 (GRCm39) R2219H probably benign Het
Mical3 A T 6: 120,986,085 (GRCm39) C119S probably damaging Het
Mipol1 G A 12: 57,411,010 (GRCm39) R267H probably benign Het
Myrip A T 9: 120,282,790 (GRCm39) probably null Het
Nelfb G A 2: 25,091,073 (GRCm39) L542F possibly damaging Het
Nlrp4b T C 7: 10,448,873 (GRCm39) C359R probably damaging Het
Noxred1 T A 12: 87,280,212 (GRCm39) H40L probably damaging Het
Nphp1 A T 2: 127,610,089 (GRCm39) probably benign Het
Or14j8 C T 17: 38,263,378 (GRCm39) C179Y probably damaging Het
Pde10a T C 17: 9,148,046 (GRCm39) probably null Het
Pigc G A 1: 161,798,345 (GRCm39) R109Q possibly damaging Het
Rfc3 A G 5: 151,566,559 (GRCm39) S297P probably benign Het
Serinc1 A T 10: 57,399,165 (GRCm39) M246K probably benign Het
Slc5a8 C T 10: 88,742,278 (GRCm39) probably benign Het
Tecrl A G 5: 83,457,156 (GRCm39) probably benign Het
Tex14 A T 11: 87,434,191 (GRCm39) E119V probably damaging Het
Tmem94 A G 11: 115,683,224 (GRCm39) K669R probably damaging Het
Tnfrsf4 C A 4: 156,099,868 (GRCm39) H130Q probably damaging Het
Trav18 G A 14: 54,069,008 (GRCm39) A18T probably benign Het
Other mutations in Pank3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02