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

1110059P08Rik, 1110001D18Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.393) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14531077-14581233 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14551743 bp (GRCm39)

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
Accsl	A	T	2: 93,691,833 (GRCm39)	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,110,317 (GRCm39)	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,922,251 (GRCm39)	C1199S	probably benign	Het
Alyref	G	A	11: 120,486,842 (GRCm39)	R140C	probably benign	Het
Arhgap26	A	T	18: 39,378,382 (GRCm39)	I92F	probably damaging	Het
Atp9b	G	A	18: 80,960,993 (GRCm39)	R73*	probably null	Het
Btaf1	G	A	19: 36,977,630 (GRCm39)	A1483T	probably damaging	Het
Cmtr2	T	C	8: 110,948,761 (GRCm39)	L357P	probably damaging	Het
Commd7	A	T	2: 153,470,474 (GRCm39)	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,675,252 (GRCm39)	I1290L	probably benign	Het
Cry2	C	A	2: 92,243,993 (GRCm39)	E393D	probably damaging	Het
Ctsm	A	T	13: 61,685,643 (GRCm39)	M74K		Het
Dnai7	A	G	6: 145,123,175 (GRCm39)	F564L	probably benign	Het
Dync2h1	T	C	9: 7,031,771 (GRCm39)	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,801,842 (GRCm39)	N58K	possibly damaging	Het
Fbxw21	T	C	9: 108,975,764 (GRCm39)	T211A	probably benign	Het
Fcsk	A	G	8: 111,610,557 (GRCm39)	W949R	probably damaging	Het
Fry	T	C	5: 150,336,793 (GRCm39)	V1388A	probably benign	Het
Gca	T	G	2: 62,520,368 (GRCm39)	I176S	probably damaging	Het
Gimap7	A	T	6: 48,700,761 (GRCm39)	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,447 (GRCm39)		probably benign	Het
Gm9195	A	C	14: 72,711,154 (GRCm39)	L428R	probably damaging	Het
Grin2b	A	G	6: 135,756,255 (GRCm39)	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442 (GRCm39)	T499A	probably benign	Het
Mbtps1	G	A	8: 120,260,108 (GRCm39)	T413I	probably damaging	Het
Med4	A	T	14: 73,751,365 (GRCm39)	S105C	probably benign	Het
Mgat1	G	A	11: 49,151,910 (GRCm39)	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,477,961 (GRCm39)	*984W	probably null	Het
Mybpc1	T	C	10: 88,379,615 (GRCm39)	E628G	possibly damaging	Het
Myh8	C	T	11: 67,183,260 (GRCm39)	P713L	possibly damaging	Het
Myo7a	T	C	7: 97,732,369 (GRCm39)	D706G	probably benign	Het
Nbas	T	A	12: 13,424,751 (GRCm39)	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,581,752 (GRCm39)	G32C	probably damaging	Het
Npas3	A	G	12: 54,112,653 (GRCm39)	T466A	probably benign	Het
Opa1	C	T	16: 29,439,232 (GRCm39)	R683C	probably benign	Het
Opa3	C	T	7: 18,989,466 (GRCm39)	R110C	probably damaging	Het
Or5p63	T	C	7: 107,811,169 (GRCm39)	E189G	probably benign	Het
Or8k38	T	A	2: 86,487,879 (GRCm39)	I308L	probably benign	Het
Ppfibp2	T	A	7: 107,337,525 (GRCm39)	L609*	probably null	Het
Pygo2	T	A	3: 89,340,617 (GRCm39)	D338E	possibly damaging	Het
Pzp	A	T	6: 128,502,172 (GRCm39)	M59K	probably benign	Het
Reln	A	G	5: 22,155,815 (GRCm39)		probably null	Het
Ripor1	A	G	8: 106,347,833 (GRCm39)	D1097G	unknown	Het
Rmdn3	T	C	2: 118,968,863 (GRCm39)	K443E	probably benign	Het
Rnf145	A	G	11: 44,448,262 (GRCm39)	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,401,179 (GRCm39)	E13D	probably benign	Het
Semp2l1	G	T	1: 32,585,165 (GRCm39)	H248Q	probably benign	Het
Slc39a6	A	G	18: 24,715,399 (GRCm39)	F707S	probably damaging	Het
Sox11	G	A	12: 27,391,536 (GRCm39)	A291V	possibly damaging	Het
Spart	T	A	3: 55,032,267 (GRCm39)	V367D	possibly damaging	Het
Spata31e3	A	G	13: 50,401,417 (GRCm39)	F303S	probably benign	Het
Strap	A	T	6: 137,718,365 (GRCm39)	K156N	probably benign	Het
Stxbp5	T	A	10: 9,645,152 (GRCm39)	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,868,677 (GRCm39)	I235V	probably benign	Het
Tek	T	A	4: 94,692,583 (GRCm39)	N230K	probably benign	Het
Tyw1	T	A	5: 130,325,520 (GRCm39)	C469*	probably null	Het
Vcan	T	C	13: 89,828,050 (GRCm39)	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,783,432 (GRCm39)	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,186,403 (GRCm39)	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,674,604 (GRCm39)	T388A	probably benign	Het
Vtcn1	A	G	3: 100,799,865 (GRCm39)	D242G	probably benign	Het
Zfp12	T	A	5: 143,231,220 (GRCm39)	C548S	probably damaging	Het
Zfp263	A	G	16: 3,567,323 (GRCm39)	D546G	probably benign	Het
Zfp324	T	A	7: 12,704,689 (GRCm39)	C293S	probably damaging	Het
Zfp747l1	T	C	7: 126,984,626 (GRCm39)	K159E	probably benign	Het
Zscan4c	A	T	7: 10,743,819 (GRCm39)	I473F	possibly damaging	Het

Other mutations in Vta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Vta1	APN	10	14,559,875 (GRCm39)	missense	probably damaging	0.98
IGL02331:Vta1	APN	10	14,581,138 (GRCm39)	missense	probably damaging	1.00
IGL03161:Vta1	APN	10	14,543,716 (GRCm39)	missense	possibly damaging	0.54
R2680:Vta1	UTSW	10	14,581,171 (GRCm39)	unclassified	probably benign
R4751:Vta1	UTSW	10	14,531,560 (GRCm39)	missense	probably benign	0.03
R5064:Vta1	UTSW	10	14,581,222 (GRCm39)	unclassified	probably benign
R5288:Vta1	UTSW	10	14,581,143 (GRCm39)	missense	probably damaging	0.98
R5635:Vta1	UTSW	10	14,543,866 (GRCm39)	splice site	probably null
R6146:Vta1	UTSW	10	14,581,096 (GRCm39)	missense	probably damaging	1.00
R7853:Vta1	UTSW	10	14,531,461 (GRCm39)	missense	probably damaging	0.96
R8151:Vta1	UTSW	10	14,543,697 (GRCm39)	missense	probably damaging	1.00
R9052:Vta1	UTSW	10	14,551,692 (GRCm39)	missense	probably benign	0.14
R9143:Vta1	UTSW	10	14,551,776 (GRCm39)	missense	possibly damaging	0.83
R9495:Vta1	UTSW	10	14,531,583 (GRCm39)	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