Mutagenetix > Incidental Mutation

Incidental Mutation 'R7790:Vps41'

599832

Institutional Source

Beutler Lab

Gene Symbol

Vps41

Ensembl Gene

ENSMUSG00000041236

Gene Name

VPS41 HOPS complex subunit

Synonyms

Vam2, mVam2

MMRRC Submission

045846-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

18901462-19050981 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 19026438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 512 (T512K)

Ref Sequence

ENSEMBL: ENSMUSP00000072729 (fasta)

Gene Model

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

AlphaFold

Q5KU39

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072961
AA Change: T512K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236
AA Change: T512K

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

0.1712

Coding Region Coverage

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

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,451,201 (GRCm39)	I136F	possibly damaging	Het
Abca13	A	T	11: 9,247,915 (GRCm39)	K2554M	probably damaging	Het
Ankrd12	C	T	17: 66,291,225 (GRCm39)	D1403N	possibly damaging	Het
Ankrd17	A	G	5: 90,408,011 (GRCm39)	V1402A	possibly damaging	Het
Ankrd36	A	T	11: 5,585,176 (GRCm39)	N329I	possibly damaging	Het
Atr	A	T	9: 95,756,233 (GRCm39)	D815V	probably damaging	Het
C9orf72	T	C	4: 35,192,997 (GRCm39)	D444G	unknown	Het
Ceacam1	T	C	7: 25,173,375 (GRCm39)	Y271C	probably damaging	Het
Cenpo	T	C	12: 4,264,597 (GRCm39)	H265R	probably benign	Het
Chd8	G	A	14: 52,463,539 (GRCm39)	R702W	probably damaging	Het
Ckap5	A	G	2: 91,389,455 (GRCm39)	N309S	probably benign	Het
Cxxc1	C	T	18: 74,350,855 (GRCm39)	R83C	probably damaging	Het
Dcaf6	T	C	1: 165,227,284 (GRCm39)	D281G	probably damaging	Het
Dennd4c	A	G	4: 86,717,754 (GRCm39)	T584A	probably damaging	Het
Drgx	T	A	14: 32,350,845 (GRCm39)	L227Q	probably damaging	Het
Dync2h1	G	T	9: 7,114,914 (GRCm39)	H2415N	probably damaging	Het
Dzip1l	A	G	9: 99,543,015 (GRCm39)	E490G	possibly damaging	Het
Fam124a	T	C	14: 62,843,526 (GRCm39)	S345P	probably benign	Het
Fam83b	G	A	9: 76,399,330 (GRCm39)	T591I	probably benign	Het
Frem1	T	C	4: 82,907,401 (GRCm39)	S838G	probably benign	Het
Fsip2	G	T	2: 82,818,723 (GRCm39)	D4819Y	probably benign	Het
Gm43302	T	G	5: 105,425,691 (GRCm39)	K246T	probably benign	Het
Gml	T	C	15: 74,685,462 (GRCm39)		probably benign	Het
Gpc1	A	T	1: 92,781,171 (GRCm39)	H90L	probably benign	Het
Grik3	T	C	4: 125,579,812 (GRCm39)	L519P	probably damaging	Het
Grwd1	A	G	7: 45,475,438 (GRCm39)	V368A	probably damaging	Het
Gstm3	G	A	3: 107,876,555 (GRCm39)		probably benign	Het
Gtpbp6	A	G	5: 110,252,252 (GRCm39)	S427P	probably damaging	Het
Heatr5b	C	T	17: 79,126,252 (GRCm39)	G560E	probably damaging	Het
Heatr9	A	G	11: 83,409,019 (GRCm39)	V176A	probably damaging	Het
Hsf2bp	A	G	17: 32,253,453 (GRCm39)	V5A	probably benign	Het
Ints3	G	T	3: 90,307,720 (GRCm39)	Q660K	probably benign	Het
Itpr2	A	T	6: 146,126,274 (GRCm39)	L2048Q	probably damaging	Het
Kcnq1	G	A	7: 142,660,342 (GRCm39)		probably null	Het
Lsm12	A	T	11: 102,055,995 (GRCm39)		probably null	Het
Mcoln3	A	G	3: 145,845,247 (GRCm39)	Y481C	probably damaging	Het
Meis3	A	G	7: 15,916,322 (GRCm39)	N266D	probably benign	Het
Mgat5	G	A	1: 127,339,941 (GRCm39)	E441K	probably benign	Het
Mroh6	C	T	15: 75,756,089 (GRCm39)	R689H	probably benign	Het
Mtg1	T	C	7: 139,729,662 (GRCm39)	Y251H	probably damaging	Het
Mtus2	A	T	5: 148,014,998 (GRCm39)	Q597L	probably benign	Het
Myt1	A	G	2: 181,439,390 (GRCm39)	E346G	probably benign	Het
Nat8f4	A	G	6: 85,877,873 (GRCm39)	S217P	probably benign	Het
Ngf	G	A	3: 102,417,140 (GRCm39)	G17R	unknown	Het
Or7e171-ps1	A	T	9: 19,852,980 (GRCm39)	M252K	unknown	Het
Pam	T	C	1: 97,749,572 (GRCm39)	Y968C	probably damaging	Het
Pcdhga7	T	A	18: 37,847,996 (GRCm39)	M1K	probably null	Het
Pde8b	G	T	13: 95,170,679 (GRCm39)	D554E	probably benign	Het
Pdzd7	G	A	19: 45,033,962 (GRCm39)	R41*	probably null	Het
Pkhd1l1	C	T	15: 44,441,977 (GRCm39)	P3639S	probably damaging	Het
Plce1	A	T	19: 38,769,140 (GRCm39)	E2280V	probably damaging	Het
Ryr1	T	C	7: 28,804,257 (GRCm39)	I538V	probably benign	Het
Scaf11	A	G	15: 96,316,942 (GRCm39)	L874P	possibly damaging	Het
Scpep1	G	T	11: 88,824,347 (GRCm39)	D307E	possibly damaging	Het
Septin4	A	G	11: 87,480,065 (GRCm39)	E327G	probably damaging	Het
Skint2	T	G	4: 112,473,751 (GRCm39)	V11G	possibly damaging	Het
Slc26a4	T	C	12: 31,594,482 (GRCm39)	N289D	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slx4	T	C	16: 3,804,846 (GRCm39)	E656G	probably benign	Het
Socs5	T	C	17: 87,441,791 (GRCm39)	S244P	probably benign	Het
Spata31h1	C	T	10: 82,123,329 (GRCm39)	C3227Y	probably benign	Het
Speer1e	C	A	5: 11,234,185 (GRCm39)	H30Q	probably benign	Het
Stt3b	A	C	9: 115,105,887 (GRCm39)	L196R	probably damaging	Het
Syne2	T	A	12: 75,975,877 (GRCm39)		probably null	Het
Tab2	T	A	10: 7,796,188 (GRCm39)	N24I	probably damaging	Het
Taf4b	T	C	18: 14,946,331 (GRCm39)	S385P	probably damaging	Het
Tg	T	C	15: 66,721,453 (GRCm39)	Y2720H	probably damaging	Het
Tjap1	C	T	17: 46,569,616 (GRCm39)	G448E	probably benign	Het
Tll1	A	T	8: 64,478,271 (GRCm39)	C827*	probably null	Het
Tlr11	T	A	14: 50,599,382 (GRCm39)	I456K	probably benign	Het
Tmem209	T	C	6: 30,497,854 (GRCm39)	D305G	probably damaging	Het
Tmem82	A	T	4: 141,345,035 (GRCm39)		probably null	Het
Tnfrsf14	A	G	4: 155,007,750 (GRCm39)	V207A	probably benign	Het
Tnks	A	T	8: 35,328,694 (GRCm39)	N625K	probably benign	Het
Tomm20	G	A	8: 127,666,700 (GRCm39)	P58S	possibly damaging	Het
Ttc9b	A	G	7: 27,353,761 (GRCm39)	D137G	probably benign	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Usp9y	T	A	Y: 1,444,573 (GRCm39)	D122V	probably damaging	Het
Wdr49	T	A	3: 75,182,335 (GRCm39)	N698I	probably benign	Het
Zfp568	G	A	7: 29,722,150 (GRCm39)	C365Y	probably damaging	Het
Zfp663	A	T	2: 165,194,453 (GRCm39)	C589S	probably damaging	Het
Zfp971	A	G	2: 177,675,292 (GRCm39)	K297R	probably damaging	Het
Zkscan16	G	T	4: 58,951,843 (GRCm39)	E173*	probably null	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
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'- TATCCTTTAATGGCCTGCACTG -3'
(R):5'- ACACCATTCCTCTGGCAGAC -3'

Sequencing Primer
(F):5'- GCAGATTGAAACCCAGCTGTG -3'
(R):5'- TGGCAGACAGATCTCACTATAATGC -3'

Posted On

2019-11-26