Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Vps72'

392073

Institutional Source

Beutler Lab

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 #

IGL02802 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

95018353-95030362 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 95026545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 163 (C163*)

Ref Sequence

ENSEMBL: ENSMUSP00000009102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009102]

AlphaFold

Q62481

Predicted Effect

probably null
Transcript: ENSMUST00000009102
AA Change: C163*

SMART Domains

Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958
AA Change: C163*

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fblim1	A	G	4: 141,317,431 (GRCm39)	S85P	possibly damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	Het

Other mutations in Vps72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02051:Vps72	APN	3	95,030,040 (GRCm39)	missense	possibly damaging	0.96
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

Predicted Primers

PCR Primer
(F):5'- AGTTTACGTCTGCAGACCCTG -3'
(R):5'- CCAGTGCTGGGGATAGTAAG -3'

Sequencing Primer
(F):5'- TGGCCTACAGTGAATTCCAG -3'
(R):5'- GCTGGGGATAGTAAGTATGAACTTTC -3'

Posted On

2016-06-09