Incidental Mutation 'R7957:Pank1'
ID 649921
Institutional Source Beutler Lab
Gene Symbol Pank1
Ensembl Gene ENSMUSG00000033610
Gene Name pantothenate kinase 1
Synonyms 4632412I06Rik, 5430426F23Rik, Pank1b, Pank1a, Pank1
MMRRC Submission 046001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7957 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 34784340-34856855 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34791096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 528 (H528L)
Ref Sequence ENSEMBL: ENSMUSP00000043562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036584] [ENSMUST00000112460]
AlphaFold Q8K4K6
Predicted Effect probably damaging
Transcript: ENSMUST00000036584
AA Change: H528L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043562
Gene: ENSMUSG00000033610
AA Change: H528L

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 damaging
Transcript: ENSMUST00000112460
AA Change: H353L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108079
Gene: ENSMUSG00000033610
AA Change: H353L

DomainStartEndE-ValueType
Pfam:Fumble 13 365 3.8e-122 PFAM
Meta Mutation Damage Score 0.9618 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (46/47)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 109,982,439 (GRCm39) M1T probably null Het
Abhd2 T A 7: 78,975,194 (GRCm39) M128K probably benign Het
Adamts12 A G 15: 11,317,298 (GRCm39) T1333A possibly damaging Het
Alg8 A G 7: 97,040,131 (GRCm39) T438A probably benign Het
Ccn3 G T 15: 54,609,734 (GRCm39) S78I possibly damaging Het
Cebpa A G 7: 34,819,867 (GRCm39) I342V possibly damaging Het
Chd9 T C 8: 91,778,326 (GRCm39) M2779T probably damaging Het
Cnot3 C A 7: 3,661,221 (GRCm39) P577T probably benign Het
Col17a1 T C 19: 47,649,556 (GRCm39) D755G probably damaging Het
Col5a3 A G 9: 20,685,347 (GRCm39) V1443A unknown Het
Crygs C T 16: 22,624,082 (GRCm39) R175H probably damaging Het
Fam193a A G 5: 34,619,430 (GRCm39) D1031G probably damaging Het
Fam83b T A 9: 76,399,267 (GRCm39) H612L probably benign Het
Gabrr2 A G 4: 33,081,410 (GRCm39) T149A probably damaging Het
Gm3667 T C 14: 18,269,663 (GRCm39) N156D probably benign Het
Hpcal1 T A 12: 17,841,171 (GRCm39) L183Q probably damaging Het
Ilf2 G T 3: 90,394,777 (GRCm39) E342* probably null Het
Ints13 A G 6: 146,452,264 (GRCm39) S652P probably damaging Het
Kansl2 C A 15: 98,422,499 (GRCm39) E356D probably benign Het
Klhl6 T C 16: 19,768,201 (GRCm39) E448G probably null Het
Mmp14 A G 14: 54,673,707 (GRCm39) I124V probably benign Het
Morc2b A T 17: 33,354,747 (GRCm39) D1008E probably benign Het
Muc16 A C 9: 18,554,767 (GRCm39) V3842G unknown Het
Myo9b A T 8: 71,807,405 (GRCm39) I1614F probably benign Het
Nipa1 A T 7: 55,629,547 (GRCm39) C189S probably damaging Het
Ntn4 T C 10: 93,480,335 (GRCm39) probably benign Het
Or12k5 A G 2: 36,894,972 (GRCm39) I218T probably benign Het
Or2t29 A G 11: 58,433,624 (GRCm39) L239P probably damaging Het
Or3a4 A C 11: 73,944,982 (GRCm39) L201R probably damaging Het
Or4x13 A T 2: 90,231,395 (GRCm39) Y130F probably damaging Het
Or8g17 T G 9: 38,930,349 (GRCm39) I163L probably benign Het
Pappa2 A T 1: 158,589,131 (GRCm39) L1698* probably null Het
Park7 A G 4: 150,988,341 (GRCm39) S85P probably damaging Het
Pik3r4 A G 9: 105,564,408 (GRCm39) D1334G probably damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Rapgef2 T C 3: 79,122,276 (GRCm39) E30G probably benign Het
Rhbdf1 A G 11: 32,160,523 (GRCm39) F676L probably damaging Het
Rsf1 GGC GGCCACGGCAGC 7: 97,229,113 (GRCm39) probably benign Het
Scd4 G T 19: 44,329,687 (GRCm39) M219I probably benign Het
Slfn5 T A 11: 82,847,613 (GRCm39) I166N probably benign Het
Smim22 A T 16: 4,826,089 (GRCm39) D85V probably damaging Het
Socs2 T C 10: 95,250,812 (GRCm39) E7G probably benign Het
Thumpd2 T C 17: 81,334,157 (GRCm39) E477G probably benign Het
Tlr12 C T 4: 128,510,483 (GRCm39) G589D probably benign Het
Ttn A T 2: 76,595,199 (GRCm39) I20317K probably damaging Het
Ttyh2 A G 11: 114,599,690 (GRCm39) probably null Het
Ugt2a3 T A 5: 87,475,050 (GRCm39) D398V probably damaging Het
Vmn2r88 A T 14: 51,650,589 (GRCm39) M101L Het
Vmn2r93 A T 17: 18,545,954 (GRCm39) R609* probably null Het
Zfp473 C T 7: 44,381,916 (GRCm39) E806K probably damaging Het
Zfp93 T C 7: 23,974,999 (GRCm39) L328P 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
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
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'- AACAGTCTTCAAATCTCCACTGTTG -3'
(R):5'- TACTGGGTCCTTACTAAATGCTC -3'

Sequencing Primer
(F):5'- CAAATCTCCACTGTTGGCTAAG -3'
(R):5'- ATGCTCTTTTAAAGCCATGGC -3'
Posted On 2020-09-15