Incidental Mutation 'R5081:Pank1'
ID 453058
Institutional Source Beutler Lab
Gene Symbol Pank1
Ensembl Gene ENSMUSG00000033610
Gene Name pantothenate kinase 1
Synonyms 4632412I06Rik, 5430426F23Rik, Pank1b, Pank1a, Pank1
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5081 (G1)
Quality Score 70
Status Validated
Chromosome 19
Chromosomal Location 34784340-34856855 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34856316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 54 (H54R)
Ref Sequence ENSEMBL: ENSMUSP00000043562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036584] [ENSMUST00000112460]
AlphaFold Q8K4K6
Predicted Effect probably benign
Transcript: ENSMUST00000036584
AA Change: H54R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610
AA Change: H54R

DomainStartEndE-ValueType
low complexity region 16 29 N/A INTRINSIC
low complexity region 42 53 N/A INTRINSIC
low complexity region 135 147 N/A INTRINSIC
Pfam:Fumble 188 540 1.6e-121 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112460
SMART Domains Protein: ENSMUSP00000108079
Gene: ENSMUSG00000033610

DomainStartEndE-ValueType
Pfam:Fumble 13 365 3.8e-122 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]
PHENOTYPE: Homozygous mutant has increased body weight, polyphagia, decreased serum triglyceride and glucose levels after fasting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Pank1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01688:Pank1 APN 19 34,818,252 (GRCm39) missense probably damaging 1.00
IGL02266:Pank1 APN 19 34,791,086 (GRCm39) splice site probably benign
IGL02814:Pank1 APN 19 34,818,255 (GRCm39) missense probably damaging 1.00
IGL03029:Pank1 APN 19 34,798,535 (GRCm39) missense probably damaging 0.96
snowleopard UTSW 19 34,789,786 (GRCm39) missense probably damaging 1.00
PIT4402001:Pank1 UTSW 19 34,818,366 (GRCm39) missense probably damaging 1.00
R0388:Pank1 UTSW 19 34,799,106 (GRCm39) splice site probably benign
R1254:Pank1 UTSW 19 34,818,260 (GRCm39) missense probably benign 0.16
R1820:Pank1 UTSW 19 34,855,084 (GRCm39) critical splice donor site probably null
R1928:Pank1 UTSW 19 34,856,281 (GRCm39) missense probably benign
R2117:Pank1 UTSW 19 34,818,486 (GRCm39) missense probably damaging 1.00
R2141:Pank1 UTSW 19 34,856,380 (GRCm39) missense possibly damaging 0.91
R2147:Pank1 UTSW 19 34,804,754 (GRCm39) missense probably benign 0.12
R2226:Pank1 UTSW 19 34,804,763 (GRCm39) missense probably damaging 1.00
R4363:Pank1 UTSW 19 34,804,532 (GRCm39) missense probably damaging 1.00
R4376:Pank1 UTSW 19 34,855,104 (GRCm39) missense probably benign
R5172:Pank1 UTSW 19 34,818,202 (GRCm39) nonsense probably null
R6706:Pank1 UTSW 19 34,789,786 (GRCm39) missense probably damaging 1.00
R6811:Pank1 UTSW 19 34,818,422 (GRCm39) missense probably benign 0.37
R7637:Pank1 UTSW 19 34,799,388 (GRCm39) splice site probably null
R7957:Pank1 UTSW 19 34,791,096 (GRCm39) missense probably damaging 1.00
R8477:Pank1 UTSW 19 34,856,055 (GRCm39) missense probably benign
R8725:Pank1 UTSW 19 34,855,989 (GRCm39) missense possibly damaging 0.57
R8893:Pank1 UTSW 19 34,804,903 (GRCm39) intron probably benign
R9193:Pank1 UTSW 19 34,804,634 (GRCm39) missense possibly damaging 0.53
R9235:Pank1 UTSW 19 34,856,197 (GRCm39) missense probably benign 0.22
R9664:Pank1 UTSW 19 34,799,194 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- AGAATCATGCTGGGCGAAC -3'
(R):5'- AGGAAGCCGCATTTGAAGTG -3'

Sequencing Primer
(F):5'- AAGCCGTTGTGCAGCAG -3'
(R):5'- CCGCATTTGAAGTGGCTCG -3'
Posted On 2017-01-27