Mutagenetix > Incidental Mutation

Incidental Mutation 'R9474:Vps11'

715651

Institutional Source

Beutler Lab

Gene Symbol

Vps11

Ensembl Gene

ENSMUSG00000032127

Gene Name

VPS11, CORVET/HOPS core subunit

Synonyms

1200011A11Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_027889.1; MGI:1918982

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9474 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44347749-44361670 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 44348993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 857 (C857*)

Ref Sequence

ENSEMBL: ENSMUSP00000034644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034644] [ENSMUST00000077353] [ENSMUST00000214510]

AlphaFold

Q91W86

Predicted Effect

probably null
Transcript: ENSMUST00000034644
AA Change: C857*

SMART Domains

Protein: ENSMUSP00000034644
Gene: ENSMUSG00000032127
AA Change: C857*

Domain	Start	End	E-Value	Type
low complexity region	26	40	N/A	INTRINSIC
SCOP:d1erja_	59	292	3e-10	SMART
Blast:WD40	73	117	2e-22	BLAST
Blast:WD40	125	168	9e-24	BLAST
Blast:WD40	175	214	6e-16	BLAST
Blast:WD40	219	259	2e-20	BLAST
Pfam:Clathrin	412	548	2.7e-16	PFAM
coiled coil region	775	813	N/A	INTRINSIC
RING	822	860	6.14e-5	SMART
Pfam:VPS11_C	862	908	5.2e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077353

SMART Domains

Protein: ENSMUSP00000076575
Gene: ENSMUSG00000032126

Domain	Start	End	E-Value	Type
Pfam:Porphobil_deam	21	233	1.7e-79	PFAM
Pfam:Porphobil_deamC	244	323	6.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214510

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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 homolog of yeast class C Vps11 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

Allele List at MGI

All alleles(8) : Targeted(4) Gene trapped(4)

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	C	A	10: 79,067,731	K250N	probably damaging	Het
9530077C05Rik	T	C	9: 22,431,719	M303T	probably damaging	Het
Adam5	A	T	8: 24,747,524	D623E	possibly damaging	Het
Akt3	T	C	1: 177,025,386	Y473C	probably damaging	Het
Ankib1	A	G	5: 3,755,617	Y217H	probably damaging	Het
Clca4b	T	A	3: 144,911,166	T908S	probably benign	Het
Clec7a	G	A	6: 129,463,163	Q160*	probably null	Het
Cntnap4	T	A	8: 112,733,471	I152N	probably damaging	Het
Ctdspl	C	T	9: 119,037,377	A179V	probably damaging	Het
Ddx43	T	C	9: 78,406,386	S200P	probably damaging	Het
Dip2c	A	G	13: 9,494,927	D84G	unknown	Het
Dmbt1	G	A	7: 131,074,257	R625H	unknown	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
E2f7	C	T	10: 110,767,189	T355I	probably damaging	Het
E2f7	C	A	10: 110,779,057	L541M	probably damaging	Het
Elovl5	T	A	9: 77,982,725	S273T	possibly damaging	Het
Emc1	T	A	4: 139,366,394	L605Q	probably damaging	Het
Fras1	T	A	5: 96,739,265	D2635E	probably benign	Het
Gabrb1	G	A	5: 72,108,347	G195E	probably damaging	Het
Galm	A	G	17: 80,150,132	D199G	possibly damaging	Het
Galntl6	T	G	8: 57,777,325	S20R	probably damaging	Het
Gm21671	A	T	5: 25,953,138	I72N	probably damaging	Het
Grb14	T	G	2: 64,938,400	Y189S	probably damaging	Het
Hk2	T	A	6: 82,728,914	I803F	probably damaging	Het
Hmcn1	G	A	1: 150,630,720	R3779W	probably damaging	Het
Hmgcr	A	C	13: 96,659,895	M260R	probably damaging	Het
Hsbp1l1	T	A	18: 80,233,424	K68N	possibly damaging	Het
Inhba	A	C	13: 16,017,678	E128A	probably benign	Het
Itpr3	G	A	17: 27,118,677		probably benign	Het
Klhl3	G	A	13: 58,019,459	P364S	probably damaging	Het
Lhpp	T	C	7: 132,641,583	L176P	probably damaging	Het
Lrp1b	C	A	2: 40,601,587	A223S	probably damaging	Het
Lrp3	A	G	7: 35,204,064	F286L	probably damaging	Het
Lrrc7	T	C	3: 158,135,391	T1337A	probably benign	Het
Magi2	A	G	5: 20,195,021	D17G	probably benign	Het
Map3k21	T	C	8: 125,924,164	S302P	probably damaging	Het
Mbtd1	A	G	11: 93,925,685	D386G	probably benign	Het
Mfsd2b	A	T	12: 4,866,820	D306E	possibly damaging	Het
Muc20	T	C	16: 32,794,083	E308G	probably damaging	Het
Myh13	G	A	11: 67,364,886	S34N		Het
Nebl	C	A	2: 17,369,610	G894*	probably null	Het
Nelfa	A	G	5: 33,898,751	Y523H	probably damaging	Het
Ninj1	A	G	13: 49,187,600	D13G	probably benign	Het
Ninl	A	T	2: 150,940,806	S170T	probably benign	Het
Nlrp4c	G	A	7: 6,065,627	V176M	possibly damaging	Het
Nobox	G	A	6: 43,307,181	R144C	probably damaging	Het
Oas1a	G	A	5: 120,899,254	L237F	probably damaging	Het
Olfr1099	A	G	2: 86,959,413	M15T	probably benign	Het
Olfr1153	T	C	2: 87,896,349	M50T	probably benign	Het
Olfr1254	A	C	2: 89,789,162	Y63*	probably null	Het
Olfr1348	A	G	7: 6,502,151	L25P	probably benign	Het
Olfr1356	T	C	10: 78,847,057	N286S	probably damaging	Het
Olfr625-ps1	A	T	7: 103,683,270	Y184F	probably damaging	Het
Orai1	A	G	5: 123,029,238	N158S	probably damaging	Het
Pa2g4	C	A	10: 128,563,098	V121L	probably benign	Het
Pclo	T	C	5: 14,521,236	S212P	possibly damaging	Het
Plce1	G	A	19: 38,777,893	E2121K	possibly damaging	Het
Plg	A	G	17: 12,403,137	Y448C	probably damaging	Het
Plppr4	A	T	3: 117,323,217	N330K	probably damaging	Het
Pou2f2	A	G	7: 25,094,822	L373S	probably benign	Het
Rnpep	A	G	1: 135,283,603	F136L	probably benign	Het
Rp1	A	G	1: 4,092,615		probably null	Het
Shank1	G	A	7: 44,312,918	S71N	unknown	Het
Slc5a4a	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	GCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGCCTTGC	10: 76,150,404		probably benign	Het
Slc5a5	T	C	8: 70,884,952	D574G	probably benign	Het
Slc7a15	T	A	12: 8,538,794	N251I	probably damaging	Het
Susd4	T	C	1: 182,892,100	S427P	probably benign	Het
Tarbp1	T	A	8: 126,429,040	T1320S	probably benign	Het
Tbpl2	C	T	2: 24,094,638	V166I	probably benign	Het
Thbs1	T	C	2: 118,120,037		probably null	Het
Tnfsf13b	A	G	8: 10,031,648	Y270C	probably damaging	Het
Vsig10	G	A	5: 117,325,039	R110H	probably benign	Het
Wee2	T	A	6: 40,455,110	Y204*	probably null	Het
Zfpm2	T	A	15: 41,103,471	S1117R	probably damaging	Het
Zscan5b	A	G	7: 6,231,473	N166S	probably benign	Het

Other mutations in Vps11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Vps11	APN	9	44356219	splice site	probably benign
IGL03135:Vps11	APN	9	44356356	missense	probably benign	0.39
PIT4696001:Vps11	UTSW	9	44358189	missense	possibly damaging	0.89
R0042:Vps11	UTSW	9	44356291	nonsense	probably null
R0042:Vps11	UTSW	9	44356291	nonsense	probably null
R0122:Vps11	UTSW	9	44354512	missense	probably damaging	1.00
R0335:Vps11	UTSW	9	44353838	missense	probably null	0.02
R0714:Vps11	UTSW	9	44359656	missense	possibly damaging	0.90
R1068:Vps11	UTSW	9	44353019	missense	probably damaging	1.00
R1873:Vps11	UTSW	9	44359936	missense	probably damaging	1.00
R1991:Vps11	UTSW	9	44359227	missense	probably damaging	0.97
R2068:Vps11	UTSW	9	44358316	missense	probably damaging	0.99
R2084:Vps11	UTSW	9	44353261	missense	probably benign	0.14
R2103:Vps11	UTSW	9	44359227	missense	probably damaging	0.97
R2119:Vps11	UTSW	9	44348997	missense	probably benign	0.01
R4160:Vps11	UTSW	9	44355720	missense	probably damaging	0.98
R4161:Vps11	UTSW	9	44355720	missense	probably damaging	0.98
R4564:Vps11	UTSW	9	44361597	missense	probably damaging	1.00
R4879:Vps11	UTSW	9	44353300	missense	probably benign
R5629:Vps11	UTSW	9	44356376	missense	probably damaging	1.00
R5910:Vps11	UTSW	9	44359135	splice site	probably null
R5988:Vps11	UTSW	9	44353924	missense	probably benign	0.01
R6430:Vps11	UTSW	9	44361550	missense	probably benign	0.11
R7002:Vps11	UTSW	9	44355079	missense	probably damaging	1.00
R7147:Vps11	UTSW	9	44355082	nonsense	probably null
R7237:Vps11	UTSW	9	44354506	missense	probably damaging	1.00
R7261:Vps11	UTSW	9	44354503	missense	probably damaging	1.00
R7577:Vps11	UTSW	9	44348961	missense	probably benign	0.01
R8093:Vps11	UTSW	9	44356232	missense	probably damaging	1.00
R8142:Vps11	UTSW	9	44354555	missense	probably benign	0.05
R8238:Vps11	UTSW	9	44352760	missense	probably benign	0.08
R8366:Vps11	UTSW	9	44355755	nonsense	probably null
R8374:Vps11	UTSW	9	44356409	missense	probably benign
R8731:Vps11	UTSW	9	44354459	missense	probably benign	0.00
R8742:Vps11	UTSW	9	44355773	utr 3 prime	probably benign
R9420:Vps11	UTSW	9	44356422	missense	probably benign	0.14
R9625:Vps11	UTSW	9	44354441	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTGTGGTACTGATGGTAG -3'
(R):5'- GGTTTCTGTGACCTCCCAAG -3'

Sequencing Primer
(F):5'- GGAAATTATCTCAGGTCCTCAAGAGC -3'
(R):5'- AAGGGACCGTGTGCATCCTG -3'

Posted On

2022-06-15