Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02740:Vps41'

305849

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps41

Ensembl Gene

ENSMUSG00000041236

Gene Name

VPS41 HOPS complex subunit

Synonyms

Vam2, mVam2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02740

Quality Score

Status

Chromosome

Chromosomal Location

18901462-19050981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19022850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 404 (L404Q)

Ref Sequence

ENSEMBL: ENSMUSP00000072729 (fasta)

Gene Model

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

AlphaFold

Q5KU39

Predicted Effect

probably damaging
Transcript: ENSMUST00000072961
AA Change: L404Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236
AA Change: L404Q

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	C	T	1: 59,209,078 (GRCm39)	E1494K	probably benign	Het
Antxr2	A	G	5: 98,178,251 (GRCm39)		probably benign	Het
Arhgap23	A	C	11: 97,365,843 (GRCm39)	K998Q	probably damaging	Het
Bap1	A	G	14: 30,978,729 (GRCm39)	N47D	possibly damaging	Het
Carmil1	A	G	13: 24,278,501 (GRCm39)	I156T	probably damaging	Het
Ccdc141	T	C	2: 76,884,953 (GRCm39)	T563A	probably benign	Het
Cct7	T	C	6: 85,445,252 (GRCm39)	F501S	probably benign	Het
Cd59b	A	G	2: 103,909,242 (GRCm39)	I8V	probably benign	Het
Cep135	T	C	5: 76,786,115 (GRCm39)		probably null	Het
Cep170	T	G	1: 176,621,166 (GRCm39)	T4P	probably damaging	Het
Chaf1a	G	T	17: 56,374,500 (GRCm39)	G896W	probably damaging	Het
Cpt1b	A	T	15: 89,308,535 (GRCm39)	L131Q	probably damaging	Het
Dcaf13	C	T	15: 39,008,495 (GRCm39)	R366*	probably null	Het
Ddr2	A	T	1: 169,812,514 (GRCm39)	N659K	probably damaging	Het
Dmrt2	C	A	19: 25,655,837 (GRCm39)	L479I	possibly damaging	Het
Dnah10	A	G	5: 124,903,927 (GRCm39)		probably benign	Het
Dsg3	C	T	18: 20,660,765 (GRCm39)	T368M	possibly damaging	Het
Dspp	C	A	5: 104,325,104 (GRCm39)	S489*	probably null	Het
Eed	A	C	7: 89,621,464 (GRCm39)	V112G	possibly damaging	Het
Ehmt1	T	A	2: 24,705,851 (GRCm39)		probably benign	Het
Elavl3	T	C	9: 21,947,675 (GRCm39)	D89G	probably benign	Het
Ercc5	T	C	1: 44,206,652 (GRCm39)	S522P	probably benign	Het
Esrrg	T	C	1: 187,930,938 (GRCm39)	L320P	probably benign	Het
Gadl1	T	A	9: 115,835,629 (GRCm39)	Y352*	probably null	Het
Gemin5	G	A	11: 58,042,390 (GRCm39)	A477V	probably damaging	Het
Gm3086	A	T	12: 70,016,095 (GRCm39)		probably benign	Het
Gm8082	C	T	14: 42,846,570 (GRCm39)		probably benign	Het
Gpr180	T	C	14: 118,377,161 (GRCm39)	L54P	probably damaging	Het
Gpsm1	G	A	2: 26,230,585 (GRCm39)	V512M	probably benign	Het
Ighv5-4	A	G	12: 113,561,100 (GRCm39)	S107P	probably damaging	Het
Irak4	T	C	15: 94,464,925 (GRCm39)	*460Q	probably null	Het
Nfkbiz	G	T	16: 55,638,317 (GRCm39)	T381N	probably benign	Het
Or1e25	A	T	11: 73,493,657 (GRCm39)	N84Y	probably benign	Het
Or5d39	T	A	2: 87,979,601 (GRCm39)	H254L	probably damaging	Het
Or8b46	T	C	9: 38,450,226 (GRCm39)	F12L	probably damaging	Het
Or8g23	T	C	9: 38,971,585 (GRCm39)	I126V	probably benign	Het
Pou2f1	G	A	1: 165,710,685 (GRCm39)	Q523*	probably null	Het
Ptcra	A	G	17: 47,069,473 (GRCm39)	S133P	probably damaging	Het
Ptgfrn	A	T	3: 100,980,253 (GRCm39)	D362E	possibly damaging	Het
Rbm33	A	T	5: 28,536,121 (GRCm39)	D19V	probably damaging	Het
Rnf4	T	A	5: 34,506,898 (GRCm39)	V74D	possibly damaging	Het
Rprd1b	A	G	2: 157,889,899 (GRCm39)	D7G	probably damaging	Het
Rrp1b	A	G	17: 32,278,305 (GRCm39)	T659A	probably damaging	Het
Scaf11	T	C	15: 96,316,883 (GRCm39)	N894D	probably benign	Het
Scn1a	G	A	2: 66,155,106 (GRCm39)	R618C	probably damaging	Het
Scn1a	A	T	2: 66,148,421 (GRCm39)	D1041E	probably benign	Het
Slc43a1	G	T	2: 84,690,094 (GRCm39)	A424S	probably damaging	Het
Sprtn	T	C	8: 125,625,042 (GRCm39)	L49P	probably damaging	Het
Sv2a	G	T	3: 96,092,723 (GRCm39)	R141L	possibly damaging	Het
Thsd7b	C	T	1: 129,540,864 (GRCm39)	S246F	probably damaging	Het
Tmem117	A	T	15: 94,612,863 (GRCm39)	D133V	probably benign	Het
Tnn	A	T	1: 159,968,347 (GRCm39)		probably benign	Het
Triobp	G	A	15: 78,850,889 (GRCm39)	V348I	probably benign	Het
Trps1	A	T	15: 50,709,935 (GRCm39)	D134E	probably damaging	Het
Ttn	T	C	2: 76,598,162 (GRCm39)	I19584V	probably benign	Het
Uqcrfs1	T	C	13: 30,725,006 (GRCm39)	H178R	probably damaging	Het
Ush2a	A	T	1: 188,380,585 (GRCm39)	Q2298L	possibly damaging	Het
Vmn2r67	A	G	7: 84,785,818 (GRCm39)	I729T	probably damaging	Het
Vmn2r79	A	T	7: 86,653,366 (GRCm39)	M544L	probably benign	Het
Xrcc5	T	G	1: 72,379,240 (GRCm39)		probably null	Het
Zfp735	A	G	11: 73,601,412 (GRCm39)	K119E	possibly 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
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
R8029:Vps41	UTSW	13	19,007,955 (GRCm39)	nonsense	probably null
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

Posted On

2015-04-16