Mutagenetix > Incidental Mutation

Incidental Mutation 'R2897:Vps41'

260869

Institutional Source

Beutler Lab

Gene Symbol

Vps41

Ensembl Gene

ENSMUSG00000041236

Gene Name

VPS41 HOPS complex subunit

Synonyms

Vam2, mVam2

MMRRC Submission

040485-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

18901462-19050981 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 18994598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000072729 (fasta)

Gene Model

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

AlphaFold

Q5KU39

Predicted Effect

probably benign
Transcript: ENSMUST00000072961

SMART Domains

Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222813

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,640 (GRCm39)	V1015A	probably benign	Het
4930480E11Rik	C	T	X: 77,413,868 (GRCm39)	Q198*	probably null	Het
Acap3	G	C	4: 155,989,388 (GRCm39)		probably null	Het
Adamts14	T	C	10: 61,040,689 (GRCm39)	D879G	probably damaging	Het
Akap1	A	T	11: 88,735,605 (GRCm39)	C352*	probably null	Het
Ankk1	T	A	9: 49,333,122 (GRCm39)	T121S	probably benign	Het
Ankrd6	T	C	4: 32,860,438 (GRCm39)	S2G	probably damaging	Het
Anks1	G	T	17: 28,204,337 (GRCm39)		probably null	Het
Apob	G	A	12: 8,060,356 (GRCm39)	G2946D	probably damaging	Het
Atm	A	C	9: 53,419,105 (GRCm39)	C782W	probably damaging	Het
Atp1a4	A	T	1: 172,074,257 (GRCm39)	I332N	probably damaging	Het
Bnc2	T	C	4: 84,211,152 (GRCm39)	I406V	probably damaging	Het
Cdh20	A	T	1: 104,875,199 (GRCm39)	D327V	probably damaging	Het
Cep192	T	A	18: 67,988,341 (GRCm39)		probably null	Het
Chd5	T	C	4: 152,456,572 (GRCm39)	F970L	probably damaging	Het
Coq9	T	C	8: 95,579,752 (GRCm39)	Y236H	probably damaging	Het
Csn1s2a	A	G	5: 87,929,680 (GRCm39)	H93R	unknown	Het
Cxcr2	T	C	1: 74,198,130 (GRCm39)	V208A	probably benign	Het
Cyp1b1	G	A	17: 80,021,160 (GRCm39)	T194M	probably benign	Het
Dbt	T	A	3: 116,317,061 (GRCm39)	V79E	probably damaging	Het
Dcx	A	G	X: 142,706,428 (GRCm39)		probably benign	Het
Dnm3	G	A	1: 162,113,643 (GRCm39)		probably benign	Het
Erbin	C	T	13: 104,022,705 (GRCm39)	E45K	probably damaging	Het
Fastkd1	A	G	2: 69,532,960 (GRCm39)	L469P	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm10271	A	G	10: 116,808,495 (GRCm39)	L7S	probably damaging	Het
Gm5087	T	C	14: 13,158,805 (GRCm38)		noncoding transcript	Het
Hid1	A	G	11: 115,241,356 (GRCm39)	S645P	probably benign	Het
Hmcn1	C	T	1: 150,678,624 (GRCm39)	C499Y	probably damaging	Het
Ifna1	C	A	4: 88,768,450 (GRCm39)	Q43K	probably benign	Het
Ikbkb	G	T	8: 23,159,693 (GRCm39)	Q432K	possibly damaging	Het
Inpp4a	A	T	1: 37,405,675 (GRCm39)	H148L	probably benign	Het
Itpr2	C	T	6: 146,074,839 (GRCm39)	R2338Q	probably benign	Het
Itpr2	A	T	6: 146,224,667 (GRCm39)	I1441N	probably damaging	Het
Krt78	T	C	15: 101,855,541 (GRCm39)	R757G	probably benign	Het
Lmx1a	T	A	1: 167,658,109 (GRCm39)		probably benign	Het
Lpxn	T	A	19: 12,796,722 (GRCm39)	S81T	probably benign	Het
Lrriq1	T	C	10: 103,063,111 (GRCm39)	N65S	probably damaging	Het
Mis18bp1	T	C	12: 65,180,360 (GRCm39)	D981G	probably benign	Het
Mpp4	T	C	1: 59,183,853 (GRCm39)	I296V	probably benign	Het
Mtrf1l	T	C	10: 5,767,565 (GRCm39)	R184G	probably benign	Het
Muc19	T	C	15: 91,822,550 (GRCm39)		noncoding transcript	Het
Myo6	T	A	9: 80,176,893 (GRCm39)		probably null	Het
Myom1	A	G	17: 71,408,215 (GRCm39)		probably benign	Het
Ndrg4	A	G	8: 96,405,014 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,522,782 (GRCm39)	S72G	probably benign	Het
Nlrc4	T	A	17: 74,755,040 (GRCm39)	M59L	probably benign	Het
Nuak2	A	T	1: 132,252,791 (GRCm39)	H115L	probably damaging	Het
Oog1	T	A	12: 87,655,178 (GRCm39)	I272K	probably damaging	Het
Or10aa1	T	C	1: 173,869,699 (GRCm39)	F61S	probably damaging	Het
Or52a20	A	T	7: 103,366,749 (GRCm39)	Y316F	probably benign	Het
Pcdhb1	A	G	18: 37,399,516 (GRCm39)	Y489C	probably damaging	Het
Pde5a	T	C	3: 122,572,651 (GRCm39)	I344T	probably benign	Het
Pip5kl1	C	A	2: 32,473,359 (GRCm39)	A332D	probably benign	Het
Pja1	T	C	X: 98,510,754 (GRCm39)	E385G	probably benign	Het
Psma6	A	T	12: 55,454,829 (GRCm39)	I53L	probably benign	Het
Ric8b	T	G	10: 84,783,761 (GRCm39)	D206E	probably benign	Het
Sardh	T	C	2: 27,079,559 (GRCm39)	D911G	probably benign	Het
Serpinb8	A	G	1: 107,534,776 (GRCm39)	T32A	unknown	Het
Shroom2	G	T	X: 151,443,035 (GRCm39)	T710K	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a7	A	G	8: 96,572,424 (GRCm39)		probably benign	Het
Stk36	T	A	1: 74,671,984 (GRCm39)	S895T	probably null	Het
Sycp3	G	A	10: 88,308,544 (GRCm39)	E205K	possibly damaging	Het
Tbc1d16	A	T	11: 119,048,654 (GRCm39)	I333N	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tmeff1	T	A	4: 48,658,831 (GRCm39)	Y101*	probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ttn	T	A	2: 76,549,500 (GRCm39)	T23399S	probably damaging	Het
Vipas39	A	G	12: 87,289,297 (GRCm39)	V389A	possibly damaging	Het
Zfp329	A	T	7: 12,544,413 (GRCm39)	H370Q	probably damaging	Het
Zfp37	C	T	4: 62,110,014 (GRCm39)	G350D	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
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'- GTGGCTGAGACTTGTCATATCCTC -3'
(R):5'- ATCTGCTGCCACTGTGCAAG -3'

Sequencing Primer
(F):5'- GAGACTTGTCATATCCTCAGTGC -3'
(R):5'- CTGTGCAAGTGCTAGAGAGAC -3'

Posted On

2015-01-23