Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Vps41'

617846

Institutional Source

Beutler Lab

Gene Symbol

Vps41

Ensembl Gene

ENSMUSG00000041236

Gene Name

VPS41 HOPS complex subunit

Synonyms

Vam2, mVam2

MMRRC Submission

067468-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18901462-19050981 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 19007955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 263 (Q263*)

Ref Sequence

ENSEMBL: ENSMUSP00000072729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072961]

AlphaFold

Q5KU39

Predicted Effect

probably null
Transcript: ENSMUST00000072961
AA Change: Q263*

SMART Domains

Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236
AA Change: Q263*

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Blast:WD40	34	70	2e-7	BLAST
SCOP:d1flga_	44	253	6e-9	SMART
Blast:WD40	159	195	3e-11	BLAST
CLH	570	711	1.92e-42	SMART
RING	790	837	8.98e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,186,129 (GRCm39)	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Cdh24	T	A	14: 54,876,856 (GRCm39)	N49I	probably damaging	Het
Ces2b	A	G	8: 105,561,482 (GRCm39)	N192S	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Oplah	T	C	15: 76,189,896 (GRCm39)	Y143C	probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,622,720 (GRCm39)	L480H	probably benign	Het
Rttn	A	G	18: 89,108,598 (GRCm39)	T1601A	not run	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spdl1	T	C	11: 34,713,419 (GRCm39)	R217G	probably benign	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,254,600 (GRCm39)	H348Y	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	probably damaging	Het

Other mutations in Vps41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01134:Vps41	APN	13	19,050,320 (GRCm39)	missense	probably benign	0.37
IGL01563:Vps41	APN	13	18,966,897 (GRCm39)	splice site	probably benign
IGL01880:Vps41	APN	13	18,994,641 (GRCm39)	missense	probably benign	0.01
IGL02024:Vps41	APN	13	18,975,827 (GRCm39)	splice site	probably benign
IGL02458:Vps41	APN	13	19,037,649 (GRCm39)	missense	possibly damaging	0.67
IGL02740:Vps41	APN	13	19,022,850 (GRCm39)	missense	probably damaging	1.00
IGL03218:Vps41	APN	13	19,013,440 (GRCm39)	missense	possibly damaging	0.74
R0197:Vps41	UTSW	13	19,038,833 (GRCm39)	critical splice donor site	probably null
R0284:Vps41	UTSW	13	19,037,610 (GRCm39)	missense	probably damaging	1.00
R0321:Vps41	UTSW	13	19,026,465 (GRCm39)	splice site	probably benign
R0372:Vps41	UTSW	13	19,026,417 (GRCm39)	missense	probably benign	0.00
R0382:Vps41	UTSW	13	19,011,897 (GRCm39)	missense	probably benign	0.30
R1691:Vps41	UTSW	13	19,025,413 (GRCm39)	missense	probably damaging	1.00
R2055:Vps41	UTSW	13	19,038,786 (GRCm39)	missense	possibly damaging	0.95
R2082:Vps41	UTSW	13	19,036,521 (GRCm39)	missense	probably benign	0.27
R2147:Vps41	UTSW	13	19,023,904 (GRCm39)	splice site	probably null
R2897:Vps41	UTSW	13	18,994,598 (GRCm39)	splice site	probably benign
R4322:Vps41	UTSW	13	19,007,960 (GRCm39)	missense	probably damaging	1.00
R4600:Vps41	UTSW	13	18,929,453 (GRCm39)	missense	probably damaging	0.97
R4751:Vps41	UTSW	13	18,995,792 (GRCm39)	missense	probably damaging	0.98
R4856:Vps41	UTSW	13	19,013,425 (GRCm39)	missense	probably damaging	0.98
R5389:Vps41	UTSW	13	19,046,708 (GRCm39)	missense	probably damaging	0.99
R7022:Vps41	UTSW	13	19,026,438 (GRCm39)	missense	possibly damaging	0.76
R7456:Vps41	UTSW	13	19,048,204 (GRCm39)	missense	probably benign	0.02
R7747:Vps41	UTSW	13	19,025,422 (GRCm39)	critical splice donor site	probably null
R7790:Vps41	UTSW	13	19,026,438 (GRCm39)	missense	possibly damaging	0.76
R8033:Vps41	UTSW	13	18,994,635 (GRCm39)	missense	possibly damaging	0.94
R8241:Vps41	UTSW	13	19,033,168 (GRCm39)	missense	possibly damaging	0.73
R8267:Vps41	UTSW	13	18,994,641 (GRCm39)	missense	probably benign	0.00
R8801:Vps41	UTSW	13	18,998,403 (GRCm39)	missense	possibly damaging	0.78
R8927:Vps41	UTSW	13	18,929,501 (GRCm39)	missense	probably benign	0.01
R8928:Vps41	UTSW	13	18,929,501 (GRCm39)	missense	probably benign	0.01
R9029:Vps41	UTSW	13	18,994,723 (GRCm39)	critical splice donor site	probably null
R9057:Vps41	UTSW	13	19,027,702 (GRCm39)	missense	probably benign	0.19
R9066:Vps41	UTSW	13	19,008,018 (GRCm39)	missense	probably damaging	0.99
R9113:Vps41	UTSW	13	19,023,883 (GRCm39)	missense	probably benign	0.25
R9129:Vps41	UTSW	13	19,011,775 (GRCm39)	missense	probably benign	0.00
R9282:Vps41	UTSW	13	19,013,401 (GRCm39)	nonsense	probably null
R9391:Vps41	UTSW	13	18,994,616 (GRCm39)	missense	probably benign	0.19
R9478:Vps41	UTSW	13	19,046,913 (GRCm39)	missense
R9569:Vps41	UTSW	13	19,013,396 (GRCm39)	missense	possibly damaging	0.93
Z1177:Vps41	UTSW	13	19,038,765 (GRCm39)	missense	probably damaging	0.97
Z1177:Vps41	UTSW	13	19,030,105 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTAACATGAGACACACTACAGCG -3'
(R):5'- ATAGCAATCTCCCCTGACAGG -3'

Sequencing Primer
(F):5'- TGAGACACACTACAGCGCATATTTAG -3'
(R):5'- TCCCCTGACAGGCAGCC -3'

Posted On

2020-01-23