Incidental Mutation 'R1101:Vps72'
ID 98069
Institutional Source Beutler Lab
Gene Symbol Vps72
Ensembl Gene ENSMUSG00000008958
Gene Name vacuolar protein sorting 72
Synonyms Tcfl1, YL-1
MMRRC Submission 039174-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1101 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95018353-95030362 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 95026487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 144 (T144K)
Ref Sequence ENSEMBL: ENSMUSP00000009102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009102]
AlphaFold Q62481
Predicted Effect probably damaging
Transcript: ENSMUST00000009102
AA Change: T144K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958
AA Change: T144K

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 noncoding transcript
Transcript: ENSMUST00000125548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152333
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 91.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,909 (GRCm39) I249M possibly damaging Het
2610021A01Rik C A 7: 41,276,783 (GRCm39) H829N probably damaging Het
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
Abi3bp G T 16: 56,426,521 (GRCm39) R512L probably damaging Het
Acot2 T G 12: 84,039,624 (GRCm39) S378A probably benign Het
Akap9 T C 5: 4,096,205 (GRCm39) I2360T probably benign Het
Bank1 T C 3: 135,989,625 (GRCm39) D155G probably benign Het
Bsn A G 9: 107,993,610 (GRCm39) V714A probably damaging Het
Cdh15 G A 8: 123,587,585 (GRCm39) V170I possibly damaging Het
Clcn2 G A 16: 20,522,345 (GRCm39) T787I probably damaging Het
Dapk1 A G 13: 60,864,599 (GRCm39) H131R probably damaging Het
Dct T G 14: 118,274,034 (GRCm39) D291A probably damaging Het
Dhx37 A G 5: 125,492,216 (GRCm39) Y1128H probably damaging Het
Dip2c A T 13: 9,684,780 (GRCm39) I1174F probably damaging Het
Eif3l A G 15: 78,959,467 (GRCm39) Y3C probably damaging Het
Enpp5 A G 17: 44,392,258 (GRCm39) N229S possibly damaging Het
Fam83b A T 9: 76,452,952 (GRCm39) H38Q possibly damaging Het
Fcamr T A 1: 130,742,223 (GRCm39) probably null Het
Hdac2 G A 10: 36,867,805 (GRCm39) V184I probably damaging Het
Igf2bp2 A T 16: 21,981,700 (GRCm39) L5Q probably damaging Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Ireb2 T A 9: 54,816,986 (GRCm39) H951Q probably benign Het
Lman1 T A 18: 66,120,969 (GRCm39) M418L probably benign Het
Lrrfip2 C T 9: 111,019,293 (GRCm39) R275W probably damaging Het
Mast3 T A 8: 71,239,307 (GRCm39) I424F probably damaging Het
Mep1a T C 17: 43,802,584 (GRCm39) D147G probably benign Het
Mtr C A 13: 12,204,411 (GRCm39) E1128D possibly damaging Het
Ogfod1 C A 8: 94,790,932 (GRCm39) S534R probably benign Het
Or4c107 A T 2: 88,789,328 (GRCm39) I173F possibly damaging Het
Or4k42 T C 2: 111,319,787 (GRCm39) T239A probably damaging Het
Or5k1 A G 16: 58,617,615 (GRCm39) V198A probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Pcdh18 T A 3: 49,707,828 (GRCm39) D882V probably damaging Het
Pik3cg C T 12: 32,245,645 (GRCm39) G868S probably null Het
Plppr5 T G 3: 117,456,172 (GRCm39) M231R probably damaging Het
Polr2a T C 11: 69,638,897 (GRCm39) T46A probably benign Het
Ppp4r3a C A 12: 101,017,830 (GRCm39) R440L probably damaging Het
Serpinb9e A T 13: 33,444,071 (GRCm39) T364S probably benign Het
Sirt3 A G 7: 140,449,541 (GRCm39) V135A possibly damaging Het
Supt16 T C 14: 52,408,896 (GRCm39) N826S probably null Het
Tbr1 T C 2: 61,635,083 (GRCm39) I11T probably benign Het
Trim72 A G 7: 127,609,419 (GRCm39) E407G possibly damaging 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
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
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'- CAGGACGATGGCTCTGACAGTG -3'
(R):5'- TCGTGTTTCAAGACAAAGCCCCTTC -3'

Sequencing Primer
(F):5'- gctctgattccagccctcc -3'
(R):5'- AAAGCCCCTTCTACAGAGTCTTG -3'
Posted On 2014-01-05