Incidental Mutation 'R6376:Pank4'
ID 514963
Institutional Source Beutler Lab
Gene Symbol Pank4
Ensembl Gene ENSMUSG00000029056
Gene Name pantothenate kinase 4
Synonyms D030031I12Rik
MMRRC Submission 044526-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R6376 (G1)
Quality Score 220.009
Status Validated
Chromosome 4
Chromosomal Location 155048580-155065395 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 155056693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000064330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030931] [ENSMUST00000070953]
AlphaFold Q80YV4
Predicted Effect probably null
Transcript: ENSMUST00000030931
SMART Domains Protein: ENSMUSP00000030931
Gene: ENSMUSG00000029056

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 null
Transcript: ENSMUST00000070953
SMART Domains Protein: ENSMUSP00000064330
Gene: ENSMUSG00000029056

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 noncoding transcript
Transcript: ENSMUST00000105632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148299
Predicted Effect probably benign
Transcript: ENSMUST00000148934
SMART Domains Protein: ENSMUSP00000125663
Gene: ENSMUSG00000029056

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
Validation Efficiency 100% (81/81)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A T 9: 53,339,456 (GRCm39) E106D probably damaging Het
A830018L16Rik A T 1: 11,868,718 (GRCm39) N333Y probably damaging Het
Abca4 T A 3: 121,917,309 (GRCm39) M1007K possibly damaging Het
Accsl T A 2: 93,687,343 (GRCm39) I495F probably damaging Het
Acsl3 T C 1: 78,674,182 (GRCm39) S373P possibly damaging Het
Adam7 A G 14: 68,742,546 (GRCm39) I689T possibly damaging Het
Akap11 G A 14: 78,752,336 (GRCm39) T179I probably damaging Het
Ankmy1 T C 1: 92,816,187 (GRCm39) K309R possibly damaging Het
Apaf1 A T 10: 90,859,673 (GRCm39) I824N probably damaging Het
Apc2 T A 10: 80,148,488 (GRCm39) C1152S probably damaging Het
Arhgap17 C A 7: 122,899,727 (GRCm39) W409L probably damaging Het
Arhgef15 T C 11: 68,845,796 (GRCm39) I19V unknown Het
Arnt C A 3: 95,397,936 (GRCm39) P573H probably damaging Het
Arvcf G A 16: 18,223,882 (GRCm39) G932R probably damaging Het
Atg4a-ps C T 3: 103,553,044 (GRCm39) W99* probably null Het
Atp13a5 T A 16: 29,056,004 (GRCm39) D1052V probably benign Het
Atp2b4 T C 1: 133,642,797 (GRCm39) T1103A probably damaging Het
B4galnt4 C A 7: 140,647,335 (GRCm39) Q362K possibly damaging Het
Cd320 T A 17: 34,066,491 (GRCm39) N90K probably benign Het
Cep170b A T 12: 112,698,502 (GRCm39) I87F probably damaging Het
Coq3 T G 4: 21,900,486 (GRCm39) C238G probably benign Het
Cpa5 A T 6: 30,614,044 (GRCm39) Q62L probably benign Het
Ctsg A T 14: 56,339,110 (GRCm39) C49* probably null Het
Cul9 T C 17: 46,819,489 (GRCm39) T2000A probably damaging Het
Dedd C T 1: 171,167,790 (GRCm39) P155S probably benign Het
Dnah1 A G 14: 30,997,565 (GRCm39) S2598P probably damaging Het
Dnah14 C T 1: 181,433,459 (GRCm39) P379S possibly damaging Het
Dync2h1 A T 9: 7,165,703 (GRCm39) S519R probably benign Het
Eea1 A G 10: 95,874,660 (GRCm39) S1192G probably benign Het
Eif5b T C 1: 38,084,760 (GRCm39) I869T probably damaging Het
Elavl4 C A 4: 110,112,651 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ets2 G A 16: 95,520,037 (GRCm39) R421H probably damaging Het
Exoc3l2 G A 7: 19,203,635 (GRCm39) A76T possibly damaging Het
Fam89b T C 19: 5,778,757 (GRCm39) Y144C probably damaging Het
Greb1 T C 12: 16,749,580 (GRCm39) E1082G probably damaging Het
Gtf3a A T 5: 146,890,798 (GRCm39) probably null Het
Hoxc12 C A 15: 102,845,524 (GRCm39) F79L possibly damaging Het
Hspb8 G T 5: 116,547,491 (GRCm39) L164I probably damaging Het
Ina C T 19: 47,003,564 (GRCm39) A124V probably benign Het
Inhbb T A 1: 119,345,411 (GRCm39) I293F probably damaging Het
Itpr3 A G 17: 27,314,449 (GRCm39) Y633C possibly damaging Het
Jag2 C T 12: 112,872,949 (GRCm39) V1102I probably benign Het
Kalrn A T 16: 33,796,361 (GRCm39) F1138Y probably benign Het
Large2 T A 2: 92,200,853 (GRCm39) probably benign Het
Lats2 A G 14: 57,959,966 (GRCm39) S177P probably benign Het
Lims2 G A 18: 32,087,515 (GRCm39) R124H possibly damaging Het
Lrp2 T A 2: 69,313,787 (GRCm39) T2315S probably benign Het
Lrrc4c A C 2: 97,459,391 (GRCm39) T6P probably benign Het
Lrrk2 T C 15: 91,626,469 (GRCm39) L1171S possibly damaging Het
Man2b2 A T 5: 36,978,378 (GRCm39) M302K probably damaging Het
Mocos G A 18: 24,834,542 (GRCm39) G860R possibly damaging Het
Mylk3 T A 8: 86,085,571 (GRCm39) D258V possibly damaging Het
Nkx1-2 C T 7: 132,201,240 (GRCm39) D6N probably damaging Het
Nrp2 A G 1: 62,758,176 (GRCm39) N54S possibly damaging Het
Nt5el T C 13: 105,256,473 (GRCm39) I514T possibly damaging Het
Or2d2 A G 7: 106,727,848 (GRCm39) F251L probably benign Het
Pacsin1 A T 17: 27,926,879 (GRCm39) T195S probably benign Het
Pdgfra A T 5: 75,327,180 (GRCm39) M126L probably benign Het
Podxl T A 6: 31,505,432 (GRCm39) T204S probably benign Het
Pole G A 5: 110,484,240 (GRCm39) D2175N probably damaging Het
Pramel16 C T 4: 143,677,267 (GRCm39) G104E probably benign Het
Prkdc A G 16: 15,587,749 (GRCm39) K2545E probably benign Het
Prodh T C 16: 17,897,849 (GRCm39) I183V probably benign Het
Ptch1 T C 13: 63,691,422 (GRCm39) D277G possibly damaging Het
Rapgef5 G A 12: 117,684,988 (GRCm39) V246M probably damaging Het
Rubcnl A G 14: 75,269,834 (GRCm39) N164S probably benign Het
Samd4 A T 14: 47,290,419 (GRCm39) L175F probably damaging Het
Scart1 G A 7: 139,808,642 (GRCm39) G851D probably damaging Het
Scimp C A 11: 70,688,893 (GRCm39) W41L possibly damaging Het
Scn3a T A 2: 65,291,843 (GRCm39) K1634N possibly damaging Het
Spta1 A G 1: 174,030,888 (GRCm39) R957G probably benign Het
Sptlc3 T A 2: 139,478,692 (GRCm39) N550K probably benign Het
Srebf1 T C 11: 60,094,361 (GRCm39) N609D probably null Het
Styxl1 A T 5: 135,776,664 (GRCm39) L164H probably benign Het
Synpo2l A T 14: 20,710,702 (GRCm39) D865E probably damaging Het
Tnfsf15 T C 4: 63,663,267 (GRCm39) M19V probably damaging Het
Trappc8 G C 18: 20,970,132 (GRCm39) R953G probably benign Het
Trav13-1 A G 14: 53,782,800 (GRCm39) N50S probably benign Het
Trim12a T C 7: 103,955,241 (GRCm39) K161E probably benign Het
Vipr1 C A 9: 121,493,640 (GRCm39) N230K probably damaging Het
Xirp1 A T 9: 119,847,557 (GRCm39) V3E probably damaging Het
Zfp768 A G 7: 126,943,892 (GRCm39) F82L probably benign 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
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
R7718:Pank4 UTSW 4 155,059,100 (GRCm39) missense probably damaging 1.00
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'- CTCTGTTGGCAGGGTCTATC -3'
(R):5'- TCGCCCTTGATTCAAAGGGG -3'

Sequencing Primer
(F):5'- AGGGTCTATCAGGCAACCTTG -3'
(R):5'- CCCTTGATTCAAAGGGGAAAGTAG -3'
Posted On 2018-05-04