Mutagenetix > Incidental Mutation

Incidental Mutation 'R0284:Vps41'

24628

Institutional Source

Beutler Lab

Gene Symbol

Vps41

Ensembl Gene

ENSMUSG00000041236

Gene Name

VPS41 HOPS complex subunit

Synonyms

Vam2, mVam2

MMRRC Submission

038505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18901462-19050981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19037610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 691 (D691V)

Ref Sequence

ENSEMBL: ENSMUSP00000072729 (fasta)

Gene Model

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

AlphaFold

Q5KU39

Predicted Effect

probably damaging
Transcript: ENSMUST00000072961
AA Change: D691V

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

SMART Domains

Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236
AA Change: D691V

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

Meta Mutation Damage Score

0.9591

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.4%

Validation Efficiency

100% (61/61)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh6	A	G	7: 30,013,413 (GRCm39)	T161A	probably benign	Het
Alox12e	A	G	11: 70,211,725 (GRCm39)		probably benign	Het
Ap1g2	A	G	14: 55,339,149 (GRCm39)		probably benign	Het
Arid2	A	T	15: 96,276,848 (GRCm39)		probably benign	Het
Bmp2k	A	T	5: 97,216,314 (GRCm39)	H604L	unknown	Het
Cacna1a	A	T	8: 85,338,914 (GRCm39)	M1705L	probably damaging	Het
Cacna1d	A	T	14: 29,794,062 (GRCm39)	D1526E	probably damaging	Het
Ccdc171	A	G	4: 83,467,975 (GRCm39)	R107G	possibly damaging	Het
Cklf	T	C	8: 104,988,207 (GRCm39)		probably benign	Het
Crabp1	A	G	9: 54,672,210 (GRCm39)	K9E	probably benign	Het
Cspg4	A	G	9: 56,793,423 (GRCm39)	D386G	probably damaging	Het
Cyp3a41b	G	A	5: 145,515,014 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,464,684 (GRCm39)	V393E	probably damaging	Het
Ednrb	C	T	14: 104,057,449 (GRCm39)	G371D	probably damaging	Het
Efcab5	T	C	11: 76,994,353 (GRCm39)		probably benign	Het
Exoc2	A	T	13: 31,061,608 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,183,362 (GRCm39)		probably benign	Het
Foxo6	T	C	4: 120,126,199 (GRCm39)	S199G	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Gk5	A	T	9: 96,063,823 (GRCm39)		probably null	Het
Gys1	A	T	7: 45,086,143 (GRCm39)		probably benign	Het
Igfbp1	T	C	11: 7,148,103 (GRCm39)	S49P	probably damaging	Het
Incenp	A	T	19: 9,871,357 (GRCm39)	S91T	unknown	Het
Itpkc	G	A	7: 26,913,968 (GRCm39)	R498*	probably null	Het
Kat6a	A	G	8: 23,429,819 (GRCm39)	T1725A	unknown	Het
Kiz	T	A	2: 146,705,730 (GRCm39)	C97S	probably benign	Het
Kri1	A	G	9: 21,187,848 (GRCm39)		probably benign	Het
Lipn	A	G	19: 34,058,106 (GRCm39)	S276G	possibly damaging	Het
Llgl1	A	G	11: 60,602,967 (GRCm39)	T881A	probably damaging	Het
Man1a2	T	C	3: 100,592,102 (GRCm39)	H26R	probably damaging	Het
Map3k5	T	A	10: 19,876,359 (GRCm39)	F173I	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mipol1	A	G	12: 57,503,855 (GRCm39)	Q341R	probably damaging	Het
Mllt6	G	T	11: 97,569,431 (GRCm39)	A928S	probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nipsnap3a	C	T	4: 52,997,178 (GRCm39)	T150I	probably benign	Het
Nsl1	A	G	1: 190,797,427 (GRCm39)	E97G	probably damaging	Het
Or11j4	G	A	14: 50,630,452 (GRCm39)	V80M	probably damaging	Het
Or4f54	T	C	2: 111,122,931 (GRCm39)	V106A	probably benign	Het
Or7g18	A	T	9: 18,786,848 (GRCm39)	Y72F	probably benign	Het
Or8c11	G	A	9: 38,289,880 (GRCm39)	M234I	probably benign	Het
Pakap	T	C	4: 57,855,207 (GRCm39)	F220L	probably damaging	Het
Pdcd6ip	A	G	9: 113,491,572 (GRCm39)	L552S	probably damaging	Het
Plekhf2	T	C	4: 10,990,595 (GRCm39)		probably benign	Het
Prdm1	T	C	10: 44,332,622 (GRCm39)	E96G	probably damaging	Het
Prpf40a	T	A	2: 53,040,659 (GRCm39)	E608D	probably damaging	Het
Prpf40b	A	T	15: 99,214,274 (GRCm39)		probably benign	Het
Rag2	T	C	2: 101,460,464 (GRCm39)	V258A	probably damaging	Het
S100a5	A	G	3: 90,518,881 (GRCm39)	I68V	probably benign	Het
Serpinb8	G	A	1: 107,530,648 (GRCm39)		probably null	Het
Slc24a4	T	C	12: 102,226,740 (GRCm39)	V492A	probably damaging	Het
Spag6l	T	A	16: 16,598,630 (GRCm39)	Q287L	probably damaging	Het
Spmip6	T	G	4: 41,507,538 (GRCm39)	E150A	probably damaging	Het
Synpo2	C	T	3: 122,873,383 (GRCm39)	W211*	probably null	Het
Tgtp1	A	G	11: 48,877,970 (GRCm39)	V245A	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,630,471 (GRCm39)		noncoding transcript	Het
Ttn	G	C	2: 76,677,048 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vps13d	A	T	4: 144,871,372 (GRCm39)	M1900K	probably benign	Het
Zfp518b	T	C	5: 38,829,083 (GRCm39)	Y974C	probably damaging	Het
Zscan29	A	T	2: 120,997,214 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCATGGTTGTTCAGCGTCAACCC -3'
(R):5'- ACGCACTTGGTCATAATTTAGGCCC -3'

Sequencing Primer
(F):5'- TGTCGTTCATATAACACCATCCGAG -3'
(R):5'- TAGGCCCACTGTATCCTGAG -3'

Posted On

2013-04-16