Mutagenetix > Incidental Mutation

Incidental Mutation 'R9172:Vta1'

696485

Institutional Source

Beutler Lab

Gene Symbol

Vta1

Ensembl Gene

ENSMUSG00000019868

Gene Name

vesicle (multivesicular body) trafficking 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14654755-14705560 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14675999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 152 (I152T)

Ref Sequence

ENSEMBL: ENSMUSP00000119829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020018] [ENSMUST00000133927] [ENSMUST00000154132]

AlphaFold

Q9CR26

Predicted Effect

probably benign
Transcript: ENSMUST00000020018

Predicted Effect

probably benign
Transcript: ENSMUST00000133927

SMART Domains

Protein: ENSMUSP00000119958
Gene: ENSMUSG00000019868

Domain	Start	End	E-Value	Type
low complexity region	25	45	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000118498
Gene: ENSMUSG00000019868
AA Change: I151T

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:Vta1	16	158	2.2e-50	PFAM
low complexity region	170	181	N/A	INTRINSIC
low complexity region	184	197	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000154132
AA Change: I152T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119829
Gene: ENSMUSG00000019868
AA Change: I152T

Domain	Start	End	E-Value	Type
low complexity region	2	12	N/A	INTRINSIC
Pfam:Vta1	16	158	1.6e-53	PFAM
low complexity region	170	181	N/A	INTRINSIC
low complexity region	184	197	N/A	INTRINSIC

Meta Mutation Damage Score

0.8877

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] C6ORF55 encodes a protein involved in trafficking of the multivesicular body, an endosomal compartment involved in sorting membrane proteins for degradation in lysosomes (Ward et al., 2005 [PubMed 15644320]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,454	K159E	probably benign	Het
Accsl	A	T	2: 93,861,488	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,160,317	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,774,404	C1199S	probably benign	Het
Alyref	G	A	11: 120,596,016	R140C	probably benign	Het
Arhgap26	A	T	18: 39,245,329	I92F	probably damaging	Het
Atp9b	G	A	18: 80,917,778	R73*	probably null	Het
Btaf1	G	A	19: 37,000,230	A1483T	probably damaging	Het
Casc1	A	G	6: 145,177,449	F564L	probably benign	Het
Cmtr2	T	C	8: 110,222,129	L357P	probably damaging	Het
Commd7	A	T	2: 153,628,554	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,784,426	I1290L	probably benign	Het
Cry2	C	A	2: 92,413,648	E393D	probably damaging	Het
Ctsm	A	T	13: 61,537,829	M74K		Het
Dync2h1	T	C	9: 7,031,771	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,824,881	N58K	possibly damaging	Het
Fbxw21	T	C	9: 109,146,696	T211A	probably benign	Het
Fry	T	C	5: 150,413,328	V1388A	probably benign	Het
Fuk	A	G	8: 110,883,925	W949R	probably damaging	Het
Gca	T	G	2: 62,690,024	I176S	probably damaging	Het
Gimap7	A	T	6: 48,723,827	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,710		probably benign	Het
Gm5415	G	T	1: 32,546,084	H248Q	probably benign	Het
Gm906	A	G	13: 50,247,381	F303S	probably benign	Het
Gm9195	A	C	14: 72,473,714	L428R	probably damaging	Het
Grin2b	A	G	6: 135,779,257	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442	T499A	probably benign	Het
Mbtps1	G	A	8: 119,533,369	T413I	probably damaging	Het
Med4	A	T	14: 73,513,925	S105C	probably benign	Het
Mgat1	G	A	11: 49,261,083	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,606,112	*984W	probably null	Het
Mybpc1	T	C	10: 88,543,753	E628G	possibly damaging	Het
Myh8	C	T	11: 67,292,434	P713L	possibly damaging	Het
Myo7a	T	C	7: 98,083,162	D706G	probably benign	Het
Nbas	T	A	12: 13,374,750	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,534,967	G32C	probably damaging	Het
Npas3	A	G	12: 54,065,870	T466A	probably benign	Het
Olfr1085	T	A	2: 86,657,535	I308L	probably benign	Het
Olfr487	T	C	7: 108,211,962	E189G	probably benign	Het
Opa1	C	T	16: 29,620,414	R683C	probably benign	Het
Opa3	C	T	7: 19,255,541	R110C	probably damaging	Het
Ppfibp2	T	A	7: 107,738,318	L609*	probably null	Het
Pygo2	T	A	3: 89,433,310	D338E	possibly damaging	Het
Pzp	A	T	6: 128,525,209	M59K	probably benign	Het
Reln	A	G	5: 21,950,817		probably null	Het
Ripor1	A	G	8: 105,621,201	D1097G	unknown	Het
Rmdn3	T	C	2: 119,138,382	K443E	probably benign	Het
Rnf145	A	G	11: 44,557,435	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,559,259	E13D	probably benign	Het
Slc39a6	A	G	18: 24,582,342	F707S	probably damaging	Het
Sox11	G	A	12: 27,341,537	A291V	possibly damaging	Het
Spg20	T	A	3: 55,124,846	V367D	possibly damaging	Het
Strap	A	T	6: 137,741,367	K156N	probably benign	Het
Stxbp5	T	A	10: 9,769,408	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,992,779	I235V	probably benign	Het
Tek	T	A	4: 94,804,346	N230K	probably benign	Het
Tyw1	T	A	5: 130,296,679	C469*	probably null	Het
Vcan	T	C	13: 89,679,931	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,806,473	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,278,982	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,536,541	T388A	probably benign	Het
Vtcn1	A	G	3: 100,892,549	D242G	probably benign	Het
Zfp12	T	A	5: 143,245,465	C548S	probably damaging	Het
Zfp263	A	G	16: 3,749,459	D546G	probably benign	Het
Zfp324	T	A	7: 12,970,762	C293S	probably damaging	Het
Zscan4c	A	T	7: 11,009,892	I473F	possibly damaging	Het

Other mutations in Vta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Vta1	APN	10	14684131	missense	probably damaging	0.98
IGL02331:Vta1	APN	10	14705394	missense	probably damaging	1.00
IGL03161:Vta1	APN	10	14667972	missense	possibly damaging	0.54
R2680:Vta1	UTSW	10	14705427	unclassified	probably benign
R4751:Vta1	UTSW	10	14655816	missense	probably benign	0.03
R5064:Vta1	UTSW	10	14705478	unclassified	probably benign
R5288:Vta1	UTSW	10	14705399	missense	probably damaging	0.98
R5635:Vta1	UTSW	10	14668122	splice site	probably null
R6146:Vta1	UTSW	10	14705352	missense	probably damaging	1.00
R7853:Vta1	UTSW	10	14655717	missense	probably damaging	0.96
R8151:Vta1	UTSW	10	14667953	missense	probably damaging	1.00
R9052:Vta1	UTSW	10	14675948	missense	probably benign	0.14
R9143:Vta1	UTSW	10	14676032	missense	possibly damaging	0.83
R9495:Vta1	UTSW	10	14655839	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- GAAAGCCTTAATCTTACTTGTCCC -3'
(R):5'- CCAGTTCCTGACCACTCAAG -3'

Sequencing Primer
(F):5'- AATCTTACTTGTCCCTACATTCCTGG -3'
(R):5'- CAGTTCCTGACCACTCAAGAATGAG -3'

Posted On

2022-02-07