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 YL-1, Tcfl1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02051
Quality Score
Status
Chromosome 3
Chromosomal Location 95111022-95123051 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95122729 bp (GRCm38)
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: ENSMUST00000136076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152333
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
BC055324 T C 1: 163,957,522 T763A probably benign Het
Cacul1 T C 19: 60,543,066 D255G probably damaging Het
Chil1 T C 1: 134,184,149 S94P probably damaging Het
Dzip3 T C 16: 48,972,254 T223A probably benign Het
E130309D02Rik A G 5: 143,307,982 C247R probably damaging Het
Gfra3 T C 18: 34,695,841 T167A possibly damaging Het
Glb1l3 T C 9: 26,825,168 I533V probably benign Het
Gm11437 T A 11: 84,152,766 Q233L probably benign Het
Gm14851 A G 8: 21,095,259 probably benign Het
Hif1an A G 19: 44,563,390 Y93C probably damaging Het
Hspg2 A G 4: 137,568,389 probably benign Het
Mak G A 13: 41,042,082 A385V probably benign Het
Micalcl G T 7: 112,381,390 K190N probably benign Het
Moxd1 A G 10: 24,253,018 probably null Het
Ptpn5 A G 7: 47,082,759 probably null Het
Ryr1 A G 7: 29,071,658 Y2614H probably benign Het
Sema3e T A 5: 14,224,310 Y192N possibly damaging Het
Smpd4 T C 16: 17,626,518 L145P probably damaging Het
Tesk2 A G 4: 116,751,184 E101G probably damaging Het
Vmn1r68 A T 7: 10,528,021 V50E probably benign Het
Vpreb3 G A 10: 75,948,410 probably null Het
Other mutations in Vps72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02802:Vps72 UTSW 3 95119234 nonsense probably null
R0135:Vps72 UTSW 3 95119197 missense probably damaging 0.99
R0197:Vps72 UTSW 3 95122583 missense probably damaging 0.97
R0463:Vps72 UTSW 3 95121304 missense probably benign 0.41
R0883:Vps72 UTSW 3 95122583 missense probably damaging 0.97
R1101:Vps72 UTSW 3 95119176 missense probably damaging 1.00
R1484:Vps72 UTSW 3 95119151 missense probably damaging 1.00
R1698:Vps72 UTSW 3 95118695 missense probably benign 0.00
R1839:Vps72 UTSW 3 95119218 missense possibly damaging 0.70
R1935:Vps72 UTSW 3 95122540 missense probably benign 0.01
R1936:Vps72 UTSW 3 95122540 missense probably benign 0.01
R3011:Vps72 UTSW 3 95119274 missense probably damaging 1.00
R4877:Vps72 UTSW 3 95118187 intron probably benign
RF018:Vps72 UTSW 3 95121408 critical splice donor site probably null
Posted On 2014-05-07