Incidental Mutation 'IGL02051:Vps72'
ID 186108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vps72
Ensembl Gene ENSMUSG00000008958
Gene Name vacuolar protein sorting 72
Synonyms Tcfl1, YL-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02051
Quality Score
Status
Chromosome 3
Chromosomal Location 95018353-95030362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95030040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 353 (L353P)
Ref Sequence ENSEMBL: ENSMUSP00000009102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005769] [ENSMUST00000009102] [ENSMUST00000107227] [ENSMUST00000131597]
AlphaFold Q62481
Predicted Effect probably benign
Transcript: ENSMUST00000005769
SMART Domains Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628

DomainStartEndE-ValueType
Pfam:Tropomodulin 4 143 2.7e-62 PFAM
PDB:1IO0|A 160 343 6e-77 PDB
SCOP:d1a4ya_ 184 289 4e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000009102
AA Change: L353P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958
AA Change: L353P

DomainStartEndE-ValueType
Pfam:YL1 5 216 5.1e-58 PFAM
low complexity region 247 264 N/A INTRINSIC
YL1_C 294 323 5.99e-9 SMART
low complexity region 335 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107227
SMART Domains Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 144 4.4e-72 PFAM
PDB:1IO0|A 160 343 6e-77 PDB
SCOP:d1a4ya_ 184 289 4e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130545
Predicted Effect probably benign
Transcript: ENSMUST00000131597
SMART Domains Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628

DomainStartEndE-ValueType
Pfam:Tropomodulin 1 144 1.5e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149898
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a shared subunit of two multi-component complexes, the histone acetyltransferase complex TRRAP/TIP60 as well as the chromatin remodeling SRCAP-containing complex. The TRRAP/TIP60 complex acetylates nucleosomal histones important for transcriptional regulation, double strand DNA break repair and apoptosis. The SRCAP-containing complex catalyzes the exchange of histone H2A with the histone variant Htz1 (H2AFZ) into nucleosomes. This protein may be responsible for binding H2AFZ, which has a role in chromosome segregation. This protein may also have a role in regulating long-term hematopoietic stem cell activity. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacul1 T C 19: 60,531,504 (GRCm39) D255G probably damaging Het
Chi3l1 T C 1: 134,111,887 (GRCm39) S94P probably damaging Het
Defa38 A G 8: 21,585,275 (GRCm39) probably benign Het
Dzip3 T C 16: 48,792,617 (GRCm39) T223A probably benign Het
Firrm T C 1: 163,785,091 (GRCm39) T763A probably benign Het
Gfra3 T C 18: 34,828,894 (GRCm39) T167A possibly damaging Het
Glb1l3 T C 9: 26,736,464 (GRCm39) I533V probably benign Het
Gm11437 T A 11: 84,043,592 (GRCm39) Q233L probably benign Het
Hif1an A G 19: 44,551,829 (GRCm39) Y93C probably damaging Het
Hspg2 A G 4: 137,295,700 (GRCm39) probably benign Het
Ints15 A G 5: 143,293,737 (GRCm39) C247R probably damaging Het
Mak G A 13: 41,195,558 (GRCm39) A385V probably benign Het
Mical2 G T 7: 111,980,597 (GRCm39) K190N probably benign Het
Moxd1 A G 10: 24,128,916 (GRCm39) probably null Het
Ptpn5 A G 7: 46,732,507 (GRCm39) probably null Het
Ryr1 A G 7: 28,771,083 (GRCm39) Y2614H probably benign Het
Sema3e T A 5: 14,274,324 (GRCm39) Y192N possibly damaging Het
Smpd4 T C 16: 17,444,382 (GRCm39) L145P probably damaging Het
Tesk2 A G 4: 116,608,381 (GRCm39) E101G probably damaging Het
Vmn1r68 A T 7: 10,261,948 (GRCm39) V50E probably benign Het
Vpreb3 G A 10: 75,784,244 (GRCm39) probably null Het
Other mutations in Vps72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02802:Vps72 UTSW 3 95,026,545 (GRCm39) nonsense probably null
R0135:Vps72 UTSW 3 95,026,508 (GRCm39) missense probably damaging 0.99
R0197:Vps72 UTSW 3 95,029,894 (GRCm39) missense probably damaging 0.97
R0463:Vps72 UTSW 3 95,028,615 (GRCm39) missense probably benign 0.41
R0883:Vps72 UTSW 3 95,029,894 (GRCm39) missense probably damaging 0.97
R1101:Vps72 UTSW 3 95,026,487 (GRCm39) missense probably damaging 1.00
R1484:Vps72 UTSW 3 95,026,462 (GRCm39) missense probably damaging 1.00
R1698:Vps72 UTSW 3 95,026,006 (GRCm39) missense probably benign 0.00
R1839:Vps72 UTSW 3 95,026,529 (GRCm39) missense possibly damaging 0.70
R1935:Vps72 UTSW 3 95,029,851 (GRCm39) missense probably benign 0.01
R1936:Vps72 UTSW 3 95,029,851 (GRCm39) missense probably benign 0.01
R3011:Vps72 UTSW 3 95,026,585 (GRCm39) missense probably damaging 1.00
R4877:Vps72 UTSW 3 95,025,498 (GRCm39) intron probably benign
RF018:Vps72 UTSW 3 95,028,719 (GRCm39) critical splice donor site probably null
Posted On 2014-05-07