Incidental Mutation 'R1581:Pank4'
ID 171389
Institutional Source Beutler Lab
Gene Symbol Pank4
Ensembl Gene ENSMUSG00000029056
Gene Name pantothenate kinase 4
Synonyms D030031I12Rik
MMRRC Submission 039618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R1581 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155048580-155065395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 155059108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 414 (R414W)
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: R414W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030931
Gene: ENSMUSG00000029056
AA Change: R414W

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: R414W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064330
Gene: ENSMUSG00000029056
AA Change: R414W

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 unknown
Transcript: ENSMUST00000148934
AA Change: R271W
SMART Domains Protein: ENSMUSP00000125663
Gene: ENSMUSG00000029056
AA Change: R271W

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: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,063,347 (GRCm39) E447G probably benign Het
Actn4 T C 7: 28,598,071 (GRCm39) T510A probably benign Het
Adgrb3 A G 1: 25,133,153 (GRCm39) M1311T possibly damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bicdl1 G T 5: 115,789,326 (GRCm39) probably benign Het
Bmyc T C 2: 25,597,346 (GRCm39) S137P probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Casc3 C T 11: 98,713,644 (GRCm39) T292I possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cibar1 T A 4: 12,155,745 (GRCm39) probably null Het
Cnnm2 A G 19: 46,751,562 (GRCm39) T451A probably damaging Het
Eed T C 7: 89,629,676 (GRCm39) K20E possibly damaging Het
Eps15 T A 4: 109,220,383 (GRCm39) M180K probably benign Het
Esr1 T C 10: 4,947,905 (GRCm39) I486T probably damaging Het
Etnppl A G 3: 130,422,393 (GRCm39) I207V possibly damaging Het
Fancg G A 4: 43,007,039 (GRCm39) P246L probably damaging Het
Fcrl1 G A 3: 87,293,030 (GRCm39) C249Y possibly damaging Het
Foxred2 A G 15: 77,839,961 (GRCm39) F110L possibly damaging Het
Fsip2 A T 2: 82,816,626 (GRCm39) N4120Y probably damaging Het
Gm4884 C T 7: 40,693,255 (GRCm39) S408L probably benign Het
Gm9476 T C 10: 100,142,474 (GRCm39) noncoding transcript Het
Gria1 T C 11: 57,127,836 (GRCm39) probably null Het
H6pd T A 4: 150,066,971 (GRCm39) I472F possibly damaging Het
Hydin A T 8: 111,137,092 (GRCm39) M632L probably benign Het
Hyou1 C T 9: 44,300,167 (GRCm39) P819S probably damaging Het
Il6st A G 13: 112,618,075 (GRCm39) E163G probably damaging Het
Kcnk1 T C 8: 126,722,278 (GRCm39) V27A possibly damaging Het
Kdelr3 T C 15: 79,407,114 (GRCm39) probably null Het
Klk1b22 A G 7: 43,765,399 (GRCm39) N117S possibly damaging Het
Klrh1 T C 6: 129,752,796 (GRCm39) D3G probably benign Het
Lpp C A 16: 24,500,591 (GRCm39) C134* probably null Het
Lrrc37a G A 11: 103,347,843 (GRCm39) R2951* probably null Het
Luzp2 T A 7: 54,899,238 (GRCm39) D285E possibly damaging Het
Ly75 C T 2: 60,158,237 (GRCm39) R1016H probably damaging Het
Mesp2 T A 7: 79,462,289 (GRCm39) S282T possibly damaging Het
Nav3 T C 10: 109,659,289 (GRCm39) D776G probably damaging Het
Nr2e1 T C 10: 42,443,964 (GRCm39) T253A probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or1r1 A T 11: 73,875,347 (GRCm39) L29H probably damaging Het
Padi6 T C 4: 140,463,147 (GRCm39) Y146C probably damaging Het
Pclo T G 5: 14,571,296 (GRCm39) I227S probably benign Het
Plppr4 A G 3: 117,121,915 (GRCm39) V221A possibly damaging Het
Pradc1 G A 6: 85,425,568 (GRCm39) R25C probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rnd2 A G 11: 101,362,022 (GRCm39) T192A probably benign Het
Rtbdn A G 8: 85,681,695 (GRCm39) E131G probably benign Het
Ryr2 A G 13: 11,809,449 (GRCm39) V792A probably benign Het
Sacs G T 14: 61,451,128 (GRCm39) Q4391H probably damaging Het
Scd2 A G 19: 44,286,538 (GRCm39) S123G probably benign Het
Septin9 A G 11: 117,181,421 (GRCm39) R74G probably damaging Het
Sipa1l2 T A 8: 126,218,356 (GRCm39) Q327L probably damaging Het
Skor1 T C 9: 63,053,505 (GRCm39) T127A probably damaging Het
Sphk2 A G 7: 45,362,920 (GRCm39) V57A probably damaging Het
Tfec A T 6: 16,844,243 (GRCm39) D101E probably damaging Het
Tmem43 T A 6: 91,455,717 (GRCm39) H109Q probably benign Het
Tmem67 C A 4: 12,047,814 (GRCm39) S839I probably damaging Het
Trpv5 T C 6: 41,630,074 (GRCm39) Y672C probably damaging Het
Ttc39d A C 17: 80,523,913 (GRCm39) S191R probably benign Het
Ttll1 C T 15: 83,380,478 (GRCm39) V296M probably damaging Het
Upp2 A C 2: 58,664,177 (GRCm39) K130T possibly damaging Het
Vmn2r5 A G 3: 64,398,640 (GRCm39) C780R probably damaging Het
Wars1 C A 12: 108,841,635 (GRCm39) E171* probably null Het
Zeb2 A T 2: 44,887,012 (GRCm39) S637T probably damaging Het
Zfp27 T A 7: 29,595,549 (GRCm39) T139S possibly damaging Het
Zfp941 A T 7: 140,392,033 (GRCm39) L442Q 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
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
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'- CACTGTTGAGAACCAGAGCTGGAAC -3'
(R):5'- TTGCTGTGTCTTGGAGCCTCAC -3'

Sequencing Primer
(F):5'- TTAGGGAGCTACCCTGATCTGAAG -3'
(R):5'- TGGAGCCTCACCCCATC -3'
Posted On 2014-04-13