Mutagenetix > Incidental Mutation

Incidental Mutation 'R1936:Vps72'

215776

Institutional Source

Beutler Lab

Gene Symbol

Vps72

Ensembl Gene

ENSMUSG00000008958

Gene Name

vacuolar protein sorting 72

Synonyms

Tcfl1, YL-1

MMRRC Submission

039954-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1936 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95018353-95030362 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95029851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 290 (V290D)

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

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000009102
AA Change: V290D

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958
AA Change: V290D

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

probably benign
Transcript: ENSMUST00000107227

SMART Domains

Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	1	144	1.5e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152333

Meta Mutation Damage Score

0.1041

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

99% (98/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,894,061 (GRCm39)	Q226R	possibly damaging	Het
Abca13	G	A	11: 9,243,595 (GRCm39)	M1819I	probably benign	Het
Abca4	G	A	3: 121,846,572 (GRCm39)	V30M	probably benign	Het
Ablim1	T	A	19: 57,204,397 (GRCm39)		probably null	Het
Adgrf3	A	T	5: 30,407,304 (GRCm39)	N207K	probably benign	Het
Anapc4	T	A	5: 52,997,010 (GRCm39)	D94E	probably damaging	Het
Arfgef2	A	G	2: 166,705,523 (GRCm39)	N918S	probably benign	Het
Arhgap45	A	G	10: 79,866,788 (GRCm39)	N1097S	probably damaging	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
AU016765	G	A	17: 64,826,873 (GRCm39)		noncoding transcript	Het
Brd10	A	G	19: 29,731,077 (GRCm39)	F712S	possibly damaging	Het
Cacna2d2	T	C	9: 107,386,455 (GRCm39)	F194S	probably damaging	Het
Cacna2d4	A	G	6: 119,247,722 (GRCm39)	D341G	possibly damaging	Het
Cdc42bpg	A	G	19: 6,360,339 (GRCm39)	Y175C	probably damaging	Het
Cep170b	G	T	12: 112,702,172 (GRCm39)	D322Y	probably damaging	Het
Cflar	T	A	1: 58,791,784 (GRCm39)	Y362*	probably null	Het
Chml	A	T	1: 175,514,825 (GRCm39)	C365*	probably null	Het
Clrn3	A	C	7: 135,115,753 (GRCm39)	I199S	possibly damaging	Het
Crtam	G	C	9: 40,915,846 (GRCm39)	P13A	probably benign	Het
Defb26	T	A	2: 152,350,195 (GRCm39)	K28N	possibly damaging	Het
Dennd1c	G	A	17: 57,380,889 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,323 (GRCm39)	M761K	possibly damaging	Het
Dnhd1	A	T	7: 105,323,183 (GRCm39)	M564L	probably benign	Het
Dusp15	A	G	2: 152,787,341 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Eapp	A	T	12: 54,720,513 (GRCm39)	M234K	probably benign	Het
Epha8	T	C	4: 136,667,554 (GRCm39)	D309G	probably benign	Het
Gfi1b	T	C	2: 28,500,125 (GRCm39)	K302R	possibly damaging	Het
Gimap3	A	T	6: 48,742,683 (GRCm39)	F82L	probably damaging	Het
Gm4862	T	C	3: 138,834,253 (GRCm39)		noncoding transcript	Het
Gpatch1	A	G	7: 34,994,947 (GRCm39)	S440P	probably damaging	Het
Gpr152	A	G	19: 4,192,531 (GRCm39)	D24G	probably damaging	Het
Gpr6	T	C	10: 40,947,477 (GRCm39)	E35G	probably benign	Het
Hip1r	T	A	5: 124,134,134 (GRCm39)	M270K	probably damaging	Het
Hk3	C	T	13: 55,159,204 (GRCm39)	V451I	probably damaging	Het
Itprid1	G	T	6: 55,874,666 (GRCm39)	L205F	probably damaging	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Klf16	G	A	10: 80,412,739 (GRCm39)	A99V	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lvrn	A	T	18: 47,011,387 (GRCm39)	Y448F	probably benign	Het
Mark3	A	G	12: 111,584,799 (GRCm39)	M132V	probably damaging	Het
Mast3	A	G	8: 71,237,444 (GRCm39)	Y577H	probably damaging	Het
Med24	A	T	11: 98,609,642 (GRCm39)		probably null	Het
Mif	G	T	10: 75,695,681 (GRCm39)	H41N	possibly damaging	Het
Myo18b	T	C	5: 112,908,222 (GRCm39)	N2017S	probably benign	Het
Neurl4	C	T	11: 69,797,959 (GRCm39)	R740C	probably damaging	Het
Nlgn1	G	T	3: 26,385,939 (GRCm39)		probably benign	Het
Or10ad1c	T	A	15: 98,085,462 (GRCm39)	H72L	probably benign	Het
Or2ak6	T	A	11: 58,593,172 (GRCm39)	L215Q	probably damaging	Het
Or5t15	A	G	2: 86,681,745 (GRCm39)	M99T	probably benign	Het
Or8b12i	A	G	9: 20,082,477 (GRCm39)	L130P	probably damaging	Het
Paip1	T	A	13: 119,593,550 (GRCm39)	M463K	probably damaging	Het
Parp3	T	A	9: 106,351,931 (GRCm39)	Y147F	probably damaging	Het
Pgrmc2	C	A	3: 41,037,473 (GRCm39)		probably benign	Het
Phldb3	G	A	7: 24,316,832 (GRCm39)	A278T	probably benign	Het
Plxnb1	T	C	9: 108,924,715 (GRCm39)		probably null	Het
Pphln1	A	G	15: 93,386,868 (GRCm39)	D234G	possibly damaging	Het
Prdm2	T	C	4: 142,861,032 (GRCm39)	S753G	probably benign	Het
Prss32	A	G	17: 24,075,024 (GRCm39)	R125G	possibly damaging	Het
Psg22	A	T	7: 18,453,635 (GRCm39)	N149I	probably damaging	Het
Psmd11	T	C	11: 80,319,570 (GRCm39)	L20P	probably damaging	Het
Recql5	T	C	11: 115,788,017 (GRCm39)	Y434C	probably benign	Het
Rexo1	A	G	10: 80,386,303 (GRCm39)	S252P	probably benign	Het
Sdr9c7	A	G	10: 127,739,503 (GRCm39)	K206R	probably benign	Het
Slc17a8	T	C	10: 89,413,777 (GRCm39)	M484V	probably benign	Het
Slc1a2	A	G	2: 102,607,950 (GRCm39)	N530D	probably benign	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a24	A	T	3: 109,043,581 (GRCm39)	E79D	probably damaging	Het
Smchd1	T	C	17: 71,770,786 (GRCm39)	Y132C	probably damaging	Het
Sorcs1	T	C	19: 50,221,082 (GRCm39)	D545G	probably damaging	Het
Sorcs2	A	G	5: 36,228,731 (GRCm39)	S104P	possibly damaging	Het
Speg	C	T	1: 75,408,052 (GRCm39)	T3249I	possibly damaging	Het
Spry4	A	G	18: 38,723,142 (GRCm39)	I207T	possibly damaging	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
Tdrd6	A	G	17: 43,937,358 (GRCm39)	L1230P	probably damaging	Het
Tesk2	A	G	4: 116,599,021 (GRCm39)	Y43C	probably benign	Het
Tex101	A	G	7: 24,367,650 (GRCm39)	V234A	probably benign	Het
Tmem161b	T	A	13: 84,441,585 (GRCm39)	L210Q	probably damaging	Het
Tmprss11f	T	A	5: 86,692,723 (GRCm39)	Q67L	probably benign	Het
Tnfrsf23	A	G	7: 143,222,291 (GRCm39)	F174L	probably benign	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Trdmt1	A	G	2: 13,516,420 (GRCm39)	L386P	probably damaging	Het
Trim25	A	T	11: 88,895,576 (GRCm39)	T206S	probably benign	Het
Trit1	T	C	4: 122,948,033 (GRCm39)	I451T	probably benign	Het
Trpc4	T	A	3: 54,187,311 (GRCm39)	M421K	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttn	A	C	2: 76,715,834 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,577,522 (GRCm39)	D24457V	probably damaging	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Vmn2r94	G	A	17: 18,464,554 (GRCm39)	R579*	probably null	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zfp26	A	G	9: 20,348,849 (GRCm39)	Y572H	probably benign	Het
Zfp292	A	G	4: 34,807,452 (GRCm39)	V1864A	probably benign	Het
Zfp952	A	T	17: 33,222,643 (GRCm39)	H374L	possibly damaging	Het
Zfy2	C	A	Y: 2,121,496 (GRCm39)	M132I	probably benign	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
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
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'- GTCTCCGCAGCATTTTGTG -3'
(R):5'- TGACAATCTTCTGACGCAAGG -3'

Sequencing Primer
(F):5'- CGCAGCATTTTGTGACTTTTC -3'
(R):5'- GCCCAGAGCCAGGTAGTG -3'

Posted On

2014-07-14