Incidental Mutation 'R0197:Vps72'
ID 23483
Institutional Source Beutler Lab
Gene Symbol Vps72
Ensembl Gene ENSMUSG00000008958
Gene Name vacuolar protein sorting 72
Synonyms Tcfl1, YL-1
MMRRC Submission 038456-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0197 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95018353-95030362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95029894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 304 (L304F)
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 probably damaging
Transcript: ENSMUST00000009102
AA Change: L304F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958
AA Change: L304F

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: ENSMUST00000139296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152333
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 92.5%
  • 20x: 75.9%
Validation Efficiency 97% (121/125)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,775,632 (GRCm39) L1607P probably damaging Het
1700016H13Rik T C 5: 103,796,687 (GRCm39) *118W probably null Het
Abcc2 A T 19: 43,815,053 (GRCm39) R1147* probably null Het
Acsbg3 A T 17: 57,190,835 (GRCm39) N468Y probably benign Het
Agap2 A G 10: 126,927,571 (GRCm39) T1131A possibly damaging Het
Aldh9a1 A G 1: 167,189,416 (GRCm39) D388G probably damaging Het
Ap3d1 G T 10: 80,565,876 (GRCm39) A97E probably damaging Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Baiap2l1 C A 5: 144,202,820 (GRCm39) V498L probably damaging Het
Bltp2 A C 11: 78,160,530 (GRCm39) probably benign Het
Cdh2 T C 18: 16,762,633 (GRCm39) N437S probably benign Het
Cert1 T A 13: 96,685,795 (GRCm39) Y63N probably benign Het
Cfap119 T C 7: 127,184,034 (GRCm39) E261G probably damaging Het
Cfap20dc C T 14: 8,518,695 (GRCm38) G254R probably damaging Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Cstf2t A T 19: 31,062,026 (GRCm39) M521L probably benign Het
Dlx5 T C 6: 6,881,619 (GRCm39) K90E possibly damaging Het
Dmp1 A G 5: 104,355,496 (GRCm39) E32G possibly damaging Het
Espnl T G 1: 91,272,211 (GRCm39) Y524D probably damaging Het
Fam20c T C 5: 138,741,479 (GRCm39) L30P probably damaging Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Gabrg1 A T 5: 70,931,732 (GRCm39) V337D probably damaging Het
Gart C A 16: 91,420,291 (GRCm39) D851Y possibly damaging Het
Gcc1 T C 6: 28,420,615 (GRCm39) H234R probably damaging Het
Gemin6 T A 17: 80,535,524 (GRCm39) H161Q probably damaging Het
Glt6d1 A G 2: 25,684,082 (GRCm39) I308T probably benign Het
Gm10320 T C 13: 98,628,491 (GRCm39) T7A probably benign Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Gmpr2 T A 14: 55,910,192 (GRCm39) D7E possibly damaging Het
Hc A G 2: 34,874,762 (GRCm39) Y1620H probably damaging Het
Hoxa3 T C 6: 52,147,123 (GRCm39) probably benign Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kdr G T 5: 76,129,082 (GRCm39) T188N possibly damaging Het
Lepr A T 4: 101,609,349 (GRCm39) D312V possibly damaging Het
Mcm3 A G 1: 20,880,329 (GRCm39) V501A probably damaging Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Med13l T C 5: 118,809,067 (GRCm39) probably benign Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Ndrg2 T A 14: 52,144,460 (GRCm39) probably benign Het
Oas3 G A 5: 120,894,210 (GRCm39) R39C probably damaging Het
Onecut2 T A 18: 64,474,543 (GRCm39) S365T possibly damaging Het
Or13c25 G A 4: 52,910,849 (GRCm39) T315M probably benign Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Or51e1 T A 7: 102,359,202 (GRCm39) H245Q probably damaging Het
Pds5b C A 5: 150,677,896 (GRCm39) Q505K probably benign Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
Rfx2 T C 17: 57,110,722 (GRCm39) Y88C probably damaging Het
Rpl6 T C 5: 121,346,541 (GRCm39) V214A probably benign Het
Samd3 T A 10: 26,147,752 (GRCm39) C476S possibly damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Shank1 C T 7: 44,001,718 (GRCm39) R1146W unknown Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Smpd4 T A 16: 17,459,461 (GRCm39) probably null Het
Strip1 C A 3: 107,521,929 (GRCm39) D750Y probably damaging Het
Svep1 T C 4: 58,070,851 (GRCm39) K2312E possibly damaging Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Tnfaip1 A T 11: 78,420,840 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp24 T A 4: 106,264,330 (GRCm39) W1754R probably damaging Het
Utp20 G A 10: 88,613,378 (GRCm39) P1301L probably benign Het
Vmn2r115 T A 17: 23,578,755 (GRCm39) S743T probably damaging Het
Vps41 T G 13: 19,038,833 (GRCm39) probably null Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zfp521 T C 18: 13,978,119 (GRCm39) T765A probably benign Het
Zfp616 A T 11: 73,976,500 (GRCm39) H923L probably damaging Het
Zp2 A T 7: 119,742,799 (GRCm39) probably benign Het
Other mutations in Vps72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02051:Vps72 APN 3 95,030,040 (GRCm39) missense possibly damaging 0.96
IGL02802:Vps72 UTSW 3 95,026,545 (GRCm39) nonsense probably null
R0135:Vps72 UTSW 3 95,026,508 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- GGTAAATACTGAGGTCACAGCCAGC -3'
(R):5'- TGACAATCTTCTGACGCAAGGCTC -3'

Sequencing Primer
(F):5'- CTACAGCCTCTGCACTGG -3'
(R):5'- TCGAGGCCCAGAGCCAG -3'
Posted On 2013-04-16