Incidental Mutation 'R0388:Pank1'
ID 31437
Institutional Source Beutler Lab
Gene Symbol Pank1
Ensembl Gene ENSMUSG00000033610
Gene Name pantothenate kinase 1
Synonyms 4632412I06Rik, 5430426F23Rik, Pank1b, Pank1a, Pank1
MMRRC Submission 038594-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R0388 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 34784340-34856855 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 34799106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036584] [ENSMUST00000112460]
AlphaFold Q8K4K6
Predicted Effect probably benign
Transcript: ENSMUST00000036584
SMART Domains Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610

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 noncoding transcript
Transcript: ENSMUST00000083660
Predicted Effect probably benign
Transcript: ENSMUST00000112460
SMART Domains Protein: ENSMUSP00000108079
Gene: ENSMUSG00000033610

Pfam:Fumble 13 365 3.8e-122 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.6%
  • 20x: 90.7%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
Acsbg1 T C 9: 54,516,347 (GRCm39) K678R probably damaging Het
Adgrg6 A G 10: 14,326,402 (GRCm39) I410T probably benign Het
Afap1l2 A C 19: 56,905,674 (GRCm39) probably benign Het
Aox1 T C 1: 58,393,565 (GRCm39) Y1242H probably damaging Het
Apoo-ps T C 13: 107,551,173 (GRCm39) noncoding transcript Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cdh3 C A 8: 107,265,761 (GRCm39) T268K probably damaging Het
Chd5 T A 4: 152,456,101 (GRCm39) H923Q probably damaging Het
Chd7 T C 4: 8,854,560 (GRCm39) V1967A probably benign Het
Cntn3 T C 6: 102,254,277 (GRCm39) M222V probably damaging Het
Dcaf17 A G 2: 70,908,915 (GRCm39) K277R probably benign Het
Dmbt1 T C 7: 130,697,779 (GRCm39) probably benign Het
Dmpk T A 7: 18,818,002 (GRCm39) probably benign Het
Dzank1 A T 2: 144,318,026 (GRCm39) L714Q possibly damaging Het
Efcab3 A G 11: 105,000,227 (GRCm39) D272G possibly damaging Het
Erbb2 G C 11: 98,318,177 (GRCm39) R471P possibly damaging Het
Esf1 T A 2: 139,962,791 (GRCm39) Y760F possibly damaging Het
Fanci C A 7: 79,089,378 (GRCm39) T938K probably benign Het
Gnai3 A G 3: 108,023,073 (GRCm39) probably benign Het
Hspg2 T A 4: 137,238,469 (GRCm39) C319S probably damaging Het
Il12a T A 3: 68,602,520 (GRCm39) probably null Het
Inpp4a A G 1: 37,435,241 (GRCm39) D837G probably damaging Het
Kcnj5 T A 9: 32,229,159 (GRCm39) E13V probably damaging Het
Kcnq3 T A 15: 65,871,887 (GRCm39) Y594F probably benign Het
Kif16b T C 2: 142,582,857 (GRCm39) E556G probably damaging Het
Kif28 T C 1: 179,567,654 (GRCm39) I39V possibly damaging Het
Lgi2 T C 5: 52,711,891 (GRCm39) E143G probably damaging Het
Mast1 T G 8: 85,642,166 (GRCm39) I1063L probably benign Het
Med12l T C 3: 59,000,925 (GRCm39) probably benign Het
Mmp19 G T 10: 128,634,752 (GRCm39) R456L probably benign Het
Mon1b T A 8: 114,365,710 (GRCm39) V346E probably damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Mrgpra9 A T 7: 46,902,542 (GRCm39) M1K probably null Het
Mycbp2 A T 14: 103,394,103 (GRCm39) H2819Q probably benign Het
Nav1 A C 1: 135,376,655 (GRCm39) probably benign Het
Neurl4 T C 11: 69,802,559 (GRCm39) probably benign Het
Ntng2 G C 2: 29,097,438 (GRCm39) P341R probably damaging Het
Oas1d A T 5: 121,055,091 (GRCm39) Y221F probably damaging Het
Or1j19 C A 2: 36,676,874 (GRCm39) D112E probably benign Het
Or1l4 A C 2: 37,092,196 (GRCm39) probably null Het
Or5al6 A G 2: 85,976,974 (GRCm39) Y35H probably damaging Het
Osbpl8 A G 10: 111,108,143 (GRCm39) M380V probably benign Het
Parn T C 16: 13,472,340 (GRCm39) D169G possibly damaging Het
Pknox1 T A 17: 31,822,166 (GRCm39) I311N probably damaging Het
Pprc1 T C 19: 46,051,214 (GRCm39) V248A possibly damaging Het
Prkcq T C 2: 11,259,045 (GRCm39) C322R probably benign Het
Ptpn13 T A 5: 103,702,928 (GRCm39) I1298N probably benign Het
Rab11fip3 A G 17: 26,288,046 (GRCm39) S36P probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Sass6 C A 3: 116,400,957 (GRCm39) probably benign Het
Shroom3 G A 5: 93,099,152 (GRCm39) G1463D probably benign Het
Slc35d1 A T 4: 103,042,084 (GRCm39) Y249* probably null Het
Slc9a3 C T 13: 74,269,655 (GRCm39) P8S unknown Het
Slc9a9 T A 9: 94,821,616 (GRCm39) probably null Het
Sting1 A G 18: 35,868,164 (GRCm39) probably null Het
Syne2 T A 12: 76,033,749 (GRCm39) M3666K probably benign Het
Synpo2 A G 3: 122,873,546 (GRCm39) V1140A probably benign Het
Thada A G 17: 84,538,524 (GRCm39) F1495L probably benign Het
Timeless A G 10: 128,077,294 (GRCm39) probably null Het
Tlr6 G T 5: 65,112,548 (GRCm39) H120N possibly damaging Het
Tns3 T C 11: 8,395,703 (GRCm39) I1234V probably benign Het
Ttll9 A G 2: 152,842,099 (GRCm39) S318G probably benign Het
Vps13c T C 9: 67,830,197 (GRCm39) probably benign Het
Zfp933 T C 4: 147,910,899 (GRCm39) I232M probably benign Het
Zfyve27 T C 19: 42,178,024 (GRCm39) S382P 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
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
R5081:Pank1 UTSW 19 34,856,316 (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

Sequencing Primer
Posted On 2013-04-24