Incidental Mutation 'R2141:Pank1'
ID 314425
Institutional Source Beutler Lab
Gene Symbol Pank1
Ensembl Gene ENSMUSG00000033610
Gene Name pantothenate kinase 1
Synonyms 4632412I06Rik, 5430426F23Rik, Pank1b, Pank1a, Pank1
MMRRC Submission 040144-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R2141 (G1)
Quality Score 40
Status Validated
Chromosome 19
Chromosomal Location 34784340-34856855 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34856380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 33 (R33C)
Ref Sequence ENSEMBL: ENSMUSP00000043562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036584] [ENSMUST00000112460]
AlphaFold Q8K4K6
Predicted Effect possibly damaging
Transcript: ENSMUST00000036584
AA Change: R33C

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610
AA Change: R33C

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 0.1227 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (107/110)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik G T 11: 58,314,752 (GRCm39) C150F probably damaging Het
Aagab T A 9: 63,523,957 (GRCm39) probably null Het
Abca15 A C 7: 120,006,697 (GRCm39) T1654P probably damaging Het
Abca17 T A 17: 24,553,240 (GRCm39) Y157F probably benign Het
Aftph A T 11: 20,648,318 (GRCm39) L813* probably null Het
Agap1 T C 1: 89,765,477 (GRCm39) I615T probably damaging Het
Ak3 T G 19: 29,000,247 (GRCm39) Q221H probably benign Het
Aldoa A G 7: 126,396,814 (GRCm39) probably null Het
Anxa8 T C 14: 33,813,873 (GRCm39) probably null Het
Atpsckmt T C 15: 31,609,718 (GRCm39) F146L probably benign Het
Baz2a A G 10: 127,959,481 (GRCm39) D1329G probably damaging Het
Calhm6 G T 10: 34,003,691 (GRCm39) A72E probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Cd55 C T 1: 130,377,160 (GRCm39) V333I probably benign Het
Cep70 A G 9: 99,178,438 (GRCm39) Y512C probably damaging Het
Cfhr2 T G 1: 139,758,893 (GRCm39) R52S probably benign Het
Clcn6 A G 4: 148,108,594 (GRCm39) F145S possibly damaging Het
Cnksr1 A G 4: 133,956,939 (GRCm39) Y488H probably damaging Het
Diablo A G 5: 123,661,424 (GRCm39) V24A probably benign Het
Dnah7b T A 1: 46,307,830 (GRCm39) M3048K probably damaging Het
Dsel T C 1: 111,787,187 (GRCm39) N1116S probably benign Het
Efnb1 A G X: 98,191,123 (GRCm39) Y343C probably damaging Het
Esco1 A G 18: 10,574,873 (GRCm39) probably null Het
Fancd2 A G 6: 113,526,282 (GRCm39) N335S probably benign Het
Flnc A G 6: 29,448,674 (GRCm39) Y1304C probably damaging Het
Fubp3 A G 2: 31,490,569 (GRCm39) probably benign Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gjc3 A C 5: 137,955,808 (GRCm39) L159R probably damaging Het
Gli1 A G 10: 127,172,596 (GRCm39) L182P probably damaging Het
Gm21957 G T 7: 124,818,625 (GRCm39) noncoding transcript Het
Gm28040 AGTG AGTGGCACCTTTGGTG 1: 133,255,059 (GRCm39) probably benign Het
Gm5885 A G 6: 133,506,238 (GRCm39) noncoding transcript Het
Gon4l A T 3: 88,794,902 (GRCm39) T402S possibly damaging Het
Gprasp1 G A X: 134,702,791 (GRCm39) E995K possibly damaging Het
Gvin-ps5 T A 7: 105,929,163 (GRCm39) T245S probably damaging Het
Helb A T 10: 119,941,926 (GRCm39) M254K possibly damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Igfn1 AGGG AGG 1: 135,902,590 (GRCm39) probably benign Het
Impdh2 A G 9: 108,442,546 (GRCm39) E305G possibly damaging Het
Ints7 T A 1: 191,336,972 (GRCm39) C351S possibly damaging Het
Ipo9 ATCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTCCTC 1: 135,314,006 (GRCm39) probably benign Het
Ipo9 A G 1: 135,329,988 (GRCm39) V484A probably benign Het
Kcnq3 T C 15: 65,867,700 (GRCm39) M648V probably benign Het
Kctd16 A G 18: 40,392,231 (GRCm39) E273G possibly damaging Het
Kif18a T A 2: 109,163,848 (GRCm39) N732K probably benign Het
Kif21b C T 1: 136,080,002 (GRCm39) R513W probably damaging Het
Klhl36 T C 8: 120,603,511 (GRCm39) C589R possibly damaging Het
Lck A G 4: 129,442,713 (GRCm39) Y481H probably damaging Het
Lmtk2 A G 5: 144,084,433 (GRCm39) Y156C probably damaging Het
Mical3 A T 6: 121,008,095 (GRCm39) probably null Het
Mki67 A G 7: 135,297,321 (GRCm39) I2571T possibly damaging Het
Mx2 G A 16: 97,339,903 (GRCm39) E20K probably benign Het
Myo10 A G 15: 25,714,194 (GRCm39) E87G probably benign Het
Myo18b T C 5: 113,021,892 (GRCm39) K500R probably benign Het
N4bp2l2 A T 5: 150,571,001 (GRCm39) I458N probably damaging Het
Nat10 T C 2: 103,561,648 (GRCm39) probably null Het
Nfasc G A 1: 132,524,383 (GRCm39) P932L probably damaging Het
Nipa1 C A 7: 55,647,259 (GRCm39) probably null Het
Nkpd1 A G 7: 19,258,162 (GRCm39) Q647R probably damaging Het
Nlrc4 T A 17: 74,754,946 (GRCm39) probably benign Het
Nmbr C A 10: 14,646,186 (GRCm39) Y353* probably null Het
Nos1ap T A 1: 170,156,735 (GRCm39) D241V probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Optc A T 1: 133,831,534 (GRCm39) probably null Het
Or4f4b A T 2: 111,313,975 (GRCm39) T95S probably benign Het
Or5d43 A G 2: 88,105,354 (GRCm39) V13A probably benign Het
Or5m13 A G 2: 85,749,171 (GRCm39) I301V probably null Het
Or6c201 A G 10: 128,968,875 (GRCm39) I254T probably benign Het
Pcmtd1 C T 1: 7,239,789 (GRCm39) R77C probably damaging Het
Phkg2 G A 7: 127,181,386 (GRCm39) probably null Het
Plcb4 G A 2: 135,818,019 (GRCm39) V762M probably damaging Het
Pramel7 T A 2: 87,320,321 (GRCm39) H324L probably damaging Het
Prelp C T 1: 133,842,869 (GRCm39) R92K probably benign Het
Ptgr3 T C 18: 84,112,668 (GRCm39) Y115H probably benign Het
Rai1 C A 11: 60,080,293 (GRCm39) S1452R possibly damaging Het
Ren1 C G 1: 133,278,516 (GRCm39) probably null Het
Rev3l T C 10: 39,724,045 (GRCm39) V785A probably benign Het
Ro60 T C 1: 143,635,772 (GRCm39) D458G probably benign Het
Rufy2 G T 10: 62,826,773 (GRCm39) R104L probably damaging Het
Senp6 T A 9: 80,031,102 (GRCm39) N8K probably damaging Het
Septin4 A T 11: 87,474,262 (GRCm39) Q60L probably benign Het
Sipa1l2 G A 8: 126,218,230 (GRCm39) P369L probably benign Het
Slc43a1 T C 2: 84,671,305 (GRCm39) L37P probably damaging Het
Slf1 T A 13: 77,197,338 (GRCm39) probably null Het
Ssr2 T A 3: 88,483,949 (GRCm39) probably benign Het
Syt2 ACTCTCTCT ACTCTCTCTCT 1: 134,674,479 (GRCm39) probably benign Het
Tas2r115 T C 6: 132,714,321 (GRCm39) K210R probably benign Het
Tbx18 A G 9: 87,597,706 (GRCm39) V276A probably damaging Het
Tesl1 T A X: 23,773,549 (GRCm39) V350E probably benign Het
Tie1 G A 4: 118,330,008 (GRCm39) R1072* probably null Het
Tm2d2 C A 8: 25,512,674 (GRCm39) T174K probably damaging Het
Tmem98 A G 11: 80,705,158 (GRCm39) D82G possibly damaging Het
Tmub2 A G 11: 102,178,379 (GRCm39) E94G possibly damaging Het
Tnnt2 TG TGG 1: 135,774,499 (GRCm39) probably benign Het
Tonsl A T 15: 76,516,861 (GRCm39) I923N probably damaging Het
Ttc21a G A 9: 119,793,361 (GRCm39) V977M probably damaging Het
Ube2ql1 T C 13: 69,886,783 (GRCm39) D226G probably damaging Het
Ubr4 C T 4: 139,204,518 (GRCm39) T4810M probably damaging Het
Wdr87-ps T C 7: 29,230,935 (GRCm39) noncoding transcript Het
Zfp408 A G 2: 91,478,194 (GRCm39) probably benign Het
Zfp473 T C 7: 44,382,501 (GRCm39) T610A possibly damaging Het
Zfp804b A G 5: 6,822,583 (GRCm39) V160A probably benign Het
Zfp960 A G 17: 17,308,146 (GRCm39) T287A probably benign 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
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
(F):5'- GAATCATGCTGGGCGAACAG -3'
(R):5'- TTCCGCACGTTGAAACTCG -3'

Sequencing Primer
(F):5'- AAGCCGTTGTGCAGCAG -3'
(R):5'- CACGTTGAAACTCGTCGGTG -3'
Posted On 2015-05-06