Incidental Mutation 'ANU05:Pank4'
ID 262479
Institutional Source Beutler Lab
Gene Symbol Pank4
Ensembl Gene ENSMUSG00000029056
Gene Name pantothenate kinase 4
Synonyms D030031I12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 155048580-155065395 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155059103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 412 (M412T)
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: M412T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030931
Gene: ENSMUSG00000029056
AA Change: M412T

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: M412T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064330
Gene: ENSMUSG00000029056
AA Change: M412T

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: M269T
SMART Domains Protein: ENSMUSP00000125663
Gene: ENSMUSG00000029056
AA Change: M269T

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: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I 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
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
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 2015-02-04