Incidental Mutation 'R7718:Pank4'
ID 595023
Institutional Source Beutler Lab
Gene Symbol Pank4
Ensembl Gene ENSMUSG00000029056
Gene Name pantothenate kinase 4
Synonyms D030031I12Rik
MMRRC Submission 045775-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R7718 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 155048580-155065395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 155059100 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 411 (E411G)
Ref Sequence ENSEMBL: ENSMUSP00000064330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030931] [ENSMUST00000070953]
AlphaFold Q80YV4
Predicted Effect probably damaging
Transcript: ENSMUST00000030931
AA Change: E411G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030931
Gene: ENSMUSG00000029056
AA Change: E411G

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
Pfam:Fumble 35 369 1.5e-142 PFAM
low complexity region 415 428 N/A INTRINSIC
Pfam:DUF89 451 763 1.4e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000070953
AA Change: E411G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064330
Gene: ENSMUSG00000029056
AA Change: E411G

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
Pfam:Fumble 36 367 1.8e-133 PFAM
low complexity region 415 428 N/A INTRINSIC
Pfam:DUF89 451 810 3.1e-64 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000125663
Gene: ENSMUSG00000029056
AA Change: E268G

DomainStartEndE-ValueType
Pfam:Fumble 1 225 2.6e-103 PFAM
low complexity region 273 286 N/A INTRINSIC
Pfam:DUF89 309 472 1.9e-30 PFAM
Meta Mutation Damage Score 0.5871 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (77/78)
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 most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A T 5: 138,646,122 (GRCm39) H669L possibly damaging Het
Abcb1a A T 5: 8,765,788 (GRCm39) N700I probably damaging Het
Abcc6 T C 7: 45,626,816 (GRCm39) K1414E possibly damaging Het
Adcy5 T C 16: 35,100,785 (GRCm39) V779A probably benign Het
Agap2 A G 10: 126,915,734 (GRCm39) S82G possibly damaging Het
Aldh1l1 A G 6: 90,575,305 (GRCm39) N864S probably damaging Het
Ang2 A T 14: 51,433,217 (GRCm39) V55E probably benign Het
Ank2 A G 3: 126,758,662 (GRCm39) M179T possibly damaging Het
Atrnl1 T A 19: 57,728,615 (GRCm39) C1090* probably null Het
Atxn1l A G 8: 110,459,866 (GRCm39) L132P probably damaging Het
Bptf A G 11: 106,972,282 (GRCm39) V862A possibly damaging Het
Capn11 C A 17: 45,954,707 (GRCm39) K143N probably damaging Het
Card6 A G 15: 5,129,269 (GRCm39) V709A possibly damaging Het
Cavin4 C T 4: 48,671,984 (GRCm39) A143V probably benign Het
Cntn5 A G 9: 9,984,133 (GRCm39) I160T probably benign Het
Cyp2c40 T A 19: 39,755,782 (GRCm39) N511Y probably benign Het
Dsc2 A T 18: 20,174,835 (GRCm39) I480N probably damaging Het
Elf2 G T 3: 51,173,385 (GRCm39) probably benign Het
Enoph1 T C 5: 100,210,019 (GRCm39) V133A possibly damaging Het
Ezh2 A T 6: 47,531,125 (GRCm39) D186E probably benign Het
Fcgbpl1 T C 7: 27,846,626 (GRCm39) F1106S probably damaging Het
Gfra1 T C 19: 58,441,889 (GRCm39) D14G possibly damaging Het
Gmip C T 8: 70,270,383 (GRCm39) R698W probably damaging Het
Grk4 A G 5: 34,852,160 (GRCm39) N135D probably benign Het
Hspb6 A G 7: 30,253,772 (GRCm39) D95G probably benign Het
Htatip2 T G 7: 49,420,632 (GRCm39) H159Q possibly damaging Het
Igfn1 T C 1: 135,896,774 (GRCm39) E1264G probably benign Het
Insyn2b T C 11: 34,352,539 (GRCm39) S194P probably benign Het
Katnb1 T A 8: 95,821,836 (GRCm39) V223E possibly damaging Het
Klra6 AGG AG 6: 129,990,315 (GRCm39) probably null Het
Masp2 C T 4: 148,687,204 (GRCm39) R29C probably damaging Het
Mcm3 A T 1: 20,887,498 (GRCm39) C123* probably null Het
Mdn1 T C 4: 32,718,420 (GRCm39) V2225A probably damaging Het
Me1 A G 9: 86,561,953 (GRCm39) L44S probably damaging Het
Mlxip A G 5: 123,583,577 (GRCm39) N380S probably benign Het
Muc21 T C 17: 35,933,728 (GRCm39) T153A unknown Het
Myh14 C T 7: 44,310,464 (GRCm39) V140I probably damaging Het
Myocd A T 11: 65,109,452 (GRCm39) D106E probably damaging Het
Oat T C 7: 132,159,988 (GRCm39) I411V probably benign Het
Or2d2 A T 7: 106,727,925 (GRCm39) V225D probably damaging Het
Or5p59 T C 7: 107,702,855 (GRCm39) V113A probably benign Het
Or8k38 A G 2: 86,488,373 (GRCm39) V143A probably benign Het
Orc2 A T 1: 58,519,476 (GRCm39) H246Q possibly damaging Het
Patl2 A T 2: 121,957,255 (GRCm39) probably null Het
Pcdhb15 A G 18: 37,608,216 (GRCm39) N483D probably damaging Het
Pcdhb20 A G 18: 37,638,704 (GRCm39) D410G probably damaging Het
Pdcl2 A G 5: 76,465,846 (GRCm39) C125R probably damaging Het
Peli3 C G 19: 4,984,584 (GRCm39) probably null Het
Pkd1 A G 17: 24,805,474 (GRCm39) D3313G probably benign Het
Plec A C 15: 76,061,639 (GRCm39) M2766R probably damaging Het
Ppargc1a C T 5: 51,655,504 (GRCm39) V99M probably damaging Het
Prr35 T A 17: 26,165,998 (GRCm39) R430* probably null Het
Psg19 G A 7: 18,526,368 (GRCm39) A374V probably benign Het
Psmd7 A T 8: 108,313,261 (GRCm39) F54L possibly damaging Het
Ptbp2 C T 3: 119,514,637 (GRCm39) G397R probably null Het
Ranbp3 A G 17: 57,003,718 (GRCm39) D39G probably damaging Het
Rcor3 T C 1: 191,786,021 (GRCm39) T406A probably benign Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Ripk2 T C 4: 16,151,968 (GRCm39) N197S possibly damaging Het
Rpia A T 6: 70,743,602 (GRCm39) M283K probably damaging Het
Rps6kc1 T C 1: 190,604,022 (GRCm39) D200G probably benign Het
Sipa1l1 A T 12: 82,389,271 (GRCm39) K499M probably damaging Het
Slc5a4b A G 10: 75,906,407 (GRCm39) L404P probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spmip4 G A 6: 50,566,078 (GRCm39) probably null Het
St7 A C 6: 17,854,998 (GRCm39) T312P probably damaging Het
Strbp T C 2: 37,515,294 (GRCm39) E244G probably damaging Het
Tbc1d8 T G 1: 39,416,061 (GRCm39) T871P probably benign Het
Tcp1 T A 17: 13,141,049 (GRCm39) I286N probably damaging Het
Tead3 C A 17: 28,552,491 (GRCm39) V327F probably damaging Het
Tmem132c A T 5: 127,640,504 (GRCm39) T892S probably benign Het
Trmt2a T C 16: 18,068,487 (GRCm39) S65P probably benign Het
Ubp1 A G 9: 113,802,597 (GRCm39) N479S possibly damaging Het
Ubtfl1 A T 9: 18,320,527 (GRCm39) L18F possibly damaging Het
Uevld T G 7: 46,587,804 (GRCm39) M299L probably benign Het
Unc13b T A 4: 43,173,854 (GRCm39) Y1561N unknown Het
Ylpm1 A G 12: 85,075,896 (GRCm39) K874E probably damaging Het
Zbtb37 G A 1: 160,859,802 (GRCm39) R168W possibly damaging Het
Other mutations in Pank4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00822:Pank4 APN 4 155,065,059 (GRCm39) missense possibly damaging 0.50
IGL01105:Pank4 APN 4 155,056,922 (GRCm39) splice site probably benign
IGL01291:Pank4 APN 4 155,059,103 (GRCm39) missense probably damaging 0.98
IGL01935:Pank4 APN 4 155,063,987 (GRCm39) missense probably damaging 1.00
IGL02366:Pank4 APN 4 155,054,085 (GRCm39) missense probably benign 0.03
IGL02514:Pank4 APN 4 155,054,922 (GRCm39) missense probably damaging 0.99
IGL03028:Pank4 APN 4 155,054,442 (GRCm39) unclassified probably benign
IGL03033:Pank4 APN 4 155,059,172 (GRCm39) missense probably damaging 1.00
ANU05:Pank4 UTSW 4 155,059,103 (GRCm39) missense probably damaging 0.98
R0518:Pank4 UTSW 4 155,061,082 (GRCm39) missense possibly damaging 0.90
R1196:Pank4 UTSW 4 155,062,630 (GRCm39) missense probably damaging 0.99
R1566:Pank4 UTSW 4 155,064,978 (GRCm39) missense probably damaging 0.98
R1581:Pank4 UTSW 4 155,059,108 (GRCm39) missense probably damaging 1.00
R1709:Pank4 UTSW 4 155,054,504 (GRCm39) missense probably damaging 1.00
R1852:Pank4 UTSW 4 155,060,816 (GRCm39) missense probably damaging 1.00
R1950:Pank4 UTSW 4 155,056,977 (GRCm39) missense probably benign
R2943:Pank4 UTSW 4 155,055,931 (GRCm39) missense probably benign 0.01
R3911:Pank4 UTSW 4 155,054,058 (GRCm39) missense probably damaging 1.00
R4162:Pank4 UTSW 4 155,064,051 (GRCm39) critical splice donor site probably null
R4404:Pank4 UTSW 4 155,064,613 (GRCm39) missense probably benign 0.00
R4619:Pank4 UTSW 4 155,061,076 (GRCm39) missense probably benign 0.07
R4731:Pank4 UTSW 4 155,055,847 (GRCm39) missense probably benign 0.01
R4732:Pank4 UTSW 4 155,055,847 (GRCm39) missense probably benign 0.01
R4733:Pank4 UTSW 4 155,055,847 (GRCm39) missense probably benign 0.01
R4747:Pank4 UTSW 4 155,063,989 (GRCm39) missense probably damaging 1.00
R4760:Pank4 UTSW 4 155,059,091 (GRCm39) missense possibly damaging 0.60
R5218:Pank4 UTSW 4 155,064,185 (GRCm39) missense probably benign 0.01
R5278:Pank4 UTSW 4 155,056,622 (GRCm39) missense probably damaging 1.00
R5774:Pank4 UTSW 4 155,065,119 (GRCm39) missense probably damaging 1.00
R6004:Pank4 UTSW 4 155,061,678 (GRCm39) missense probably damaging 1.00
R6376:Pank4 UTSW 4 155,056,693 (GRCm39) splice site probably null
R7105:Pank4 UTSW 4 155,064,624 (GRCm39) missense probably benign 0.07
R7253:Pank4 UTSW 4 155,055,377 (GRCm39) missense probably benign 0.02
R7481:Pank4 UTSW 4 155,054,495 (GRCm39) missense probably damaging 1.00
R7565:Pank4 UTSW 4 155,065,007 (GRCm39) missense probably benign 0.08
R7736:Pank4 UTSW 4 155,054,204 (GRCm39) missense probably benign 0.03
R8144:Pank4 UTSW 4 155,054,537 (GRCm39) missense probably benign 0.01
R8967:Pank4 UTSW 4 155,055,415 (GRCm39) missense probably benign 0.09
R9012:Pank4 UTSW 4 155,062,847 (GRCm39) unclassified probably benign
R9040:Pank4 UTSW 4 155,064,559 (GRCm39) missense probably benign 0.00
R9478:Pank4 UTSW 4 155,064,565 (GRCm39) missense probably benign
Z1177:Pank4 UTSW 4 155,059,241 (GRCm39) missense possibly damaging 0.90
Z1177:Pank4 UTSW 4 155,059,202 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGATCTGAAGCTTTCAAGTG -3'
(R):5'- AAGAGCAGCCCAGGTTTTG -3'

Sequencing Primer
(F):5'- CTGAAGCTTTCAAGTGTAGACACAC -3'
(R):5'- GACCACACGCTCTCCACTTG -3'
Posted On 2019-11-12