Mutagenetix > Incidental Mutation

Incidental Mutation 'R5288:Vta1'

424507

Institutional Source

Beutler Lab

Gene Symbol

Vta1

Ensembl Gene

ENSMUSG00000019868

Gene Name

vesicle (multivesicular body) trafficking 1

Synonyms

MMRRC Submission

042842-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R5288 (G1)

Quality Score

215

Status

Not validated

Chromosome

Chromosomal Location

14654755-14705560 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 14705399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 21 (L21F)

Ref Sequence

ENSEMBL: ENSMUSP00000119829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020018] [ENSMUST00000154132] [ENSMUST00000190114] [ENSMUST00000191238]

AlphaFold

Q9CR26

Predicted Effect

unknown
Transcript: ENSMUST00000020018
AA Change: L21F

Predicted Effect

unknown
Transcript: ENSMUST00000149485
AA Change: L20F

SMART Domains

Protein: ENSMUSP00000118498
Gene: ENSMUSG00000019868
AA Change: L20F

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

noncoding transcript
Transcript: ENSMUST00000151805

Predicted Effect

probably damaging
Transcript: ENSMUST00000154132
AA Change: L21F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119829
Gene: ENSMUSG00000019868
AA Change: L21F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186175

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187449

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188021

Predicted Effect

probably benign
Transcript: ENSMUST00000190114

SMART Domains

Protein: ENSMUSP00000140754
Gene: ENSMUSG00000019865

Domain	Start	End	E-Value	Type
Pfam:7tm_1	8	119	6.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191238

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110001I22Rik	T	G	16: 13,677,758 (GRCm38)	N240K	probably benign	Het
Abcc12	A	T	8: 86,566,539 (GRCm38)	Y7N	probably damaging	Het
Adcy1	A	C	11: 7,161,351 (GRCm38)	I881L	probably benign	Het
Aftph	T	C	11: 20,726,994 (GRCm38)	D205G	probably damaging	Het
Aldh7a1	T	A	18: 56,534,253 (GRCm38)	N316Y	possibly damaging	Het
Ankrd36	A	G	11: 5,689,340 (GRCm38)		probably benign	Het
C87414	C	T	5: 93,637,748 (GRCm38)	M224I	possibly damaging	Het
Ccdc88a	T	G	11: 29,498,416 (GRCm38)	N1465K	possibly damaging	Het
Ccpg1	G	A	9: 73,013,044 (GRCm38)	S647N	probably benign	Het
Cep70	T	A	9: 99,281,075 (GRCm38)	L325Q	probably damaging	Het
Cfap46	A	G	7: 139,613,507 (GRCm38)		probably null	Het
Cftr	C	T	6: 18,226,129 (GRCm38)	Q359*	probably null	Het
Chrne	A	T	11: 70,615,087 (GRCm38)	N457K	possibly damaging	Het
Cntn2	A	G	1: 132,523,677 (GRCm38)	I438T	probably benign	Het
Cntn4	T	C	6: 106,181,804 (GRCm38)	L10P	possibly damaging	Het
Copg1	G	T	6: 87,890,207 (GRCm38)	M87I	possibly damaging	Het
Cyfip1	A	T	7: 55,925,135 (GRCm38)	M1045L	possibly damaging	Het
Cyp2c29	C	T	19: 39,330,372 (GRCm38)	P432L	probably damaging	Het
Dcaf11	T	A	14: 55,563,376 (GRCm38)	D96E	probably damaging	Het
Dmxl2	A	G	9: 54,378,757 (GRCm38)	S2715P	probably benign	Het
Dnhd1	G	A	7: 105,714,437 (GRCm38)	E4069K	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,721 (GRCm38)	N330I	probably damaging	Het
Dpy19l4	G	T	4: 11,304,014 (GRCm38)	A132D	probably damaging	Het
Duox2	A	G	2: 122,295,136 (GRCm38)	V330A	probably benign	Het
Dusp11	T	C	6: 85,947,605 (GRCm38)	*322W	probably null	Het
Dusp8	T	A	7: 142,089,993 (GRCm38)	Q61L	possibly damaging	Het
Eml3	G	A	19: 8,939,274 (GRCm38)	G720S	probably damaging	Het
F11	A	G	8: 45,246,796 (GRCm38)	S418P	probably damaging	Het
Fam91a1	G	A	15: 58,448,394 (GRCm38)	S645N	probably benign	Het
Fat2	G	A	11: 55,267,656 (GRCm38)	T3412I	probably benign	Het
Fbxo38	A	G	18: 62,540,971 (GRCm38)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,954,329 (GRCm38)	L160F	possibly damaging	Het
Gm10134	T	A	2: 28,506,360 (GRCm38)		probably benign	Het
Gm11787	T	C	4: 3,511,795 (GRCm38)		noncoding transcript	Het
Gm14085	C	A	2: 122,522,778 (GRCm38)	L480I	probably benign	Het
Gpatch8	A	T	11: 102,508,227 (GRCm38)		probably null	Het
Gucy2g	G	A	19: 55,215,116 (GRCm38)	A750V	probably damaging	Het
Hephl1	T	C	9: 15,076,854 (GRCm38)	T653A	possibly damaging	Het
Herc3	T	A	6: 58,874,278 (GRCm38)	M504K	probably damaging	Het
Hmcn2	A	G	2: 31,460,321 (GRCm38)	T5077A	probably benign	Het
Ifitm3	T	C	7: 141,010,641 (GRCm38)	N2S	probably benign	Het
Ighe	T	C	12: 113,271,472 (GRCm38)	H356R	probably benign	Het
Ighv10-3	T	A	12: 114,523,505 (GRCm38)	M99L	probably benign	Het
Izumo4	C	A	10: 80,702,805 (GRCm38)	C30*	probably null	Het
Jag1	A	T	2: 137,095,544 (GRCm38)	H303Q	possibly damaging	Het
Kif24	T	C	4: 41,395,373 (GRCm38)	E500G	probably benign	Het
Kng1	A	T	16: 23,079,092 (GRCm38)	D414V	probably damaging	Het
Loxhd1	A	C	18: 77,363,612 (GRCm38)	D410A	probably damaging	Het
Ltn1	T	C	16: 87,416,011 (GRCm38)	K554R	possibly damaging	Het
Ly75	A	G	2: 60,303,641 (GRCm38)	C1547R	probably damaging	Het
Ms4a6d	A	T	19: 11,587,136 (GRCm38)	S124T	possibly damaging	Het
Mtfr2	A	G	10: 20,357,702 (GRCm38)	D339G	probably damaging	Het
Myh10	T	A	11: 68,801,608 (GRCm38)	L1369Q	probably damaging	Het
Myh11	A	T	16: 14,208,008 (GRCm38)	V1366D	possibly damaging	Het
Nadsyn1	A	G	7: 143,803,286 (GRCm38)	V491A	possibly damaging	Het
Nav3	T	C	10: 109,853,105 (GRCm38)	N437S	probably benign	Het
Ncf1	A	G	5: 134,221,805 (GRCm38)	L373P	probably damaging	Het
Neb	A	T	2: 52,189,861 (GRCm38)	I85N	probably damaging	Het
Nktr	A	G	9: 121,748,593 (GRCm38)	K576E	probably benign	Het
Nmur2	T	A	11: 56,040,214 (GRCm38)	I224F	probably damaging	Het
Oas3	A	G	5: 120,756,990 (GRCm38)	F978S	probably damaging	Het
Olfr1115	C	T	2: 87,252,483 (GRCm38)	P182L	probably benign	Het
Olfr1331	T	C	4: 118,869,575 (GRCm38)	S264P	probably damaging	Het
Olfr330	A	T	11: 58,529,482 (GRCm38)	M168K	probably damaging	Het
Olfr457	T	A	6: 42,471,252 (GRCm38)	I309F	probably benign	Het
Olfr484	T	C	7: 108,125,168 (GRCm38)	T32A	probably benign	Het
Pcyox1	A	T	6: 86,392,354 (GRCm38)		probably null	Het
Pdcd7	G	A	9: 65,358,692 (GRCm38)	W477*	probably null	Het
Pitpnm1	T	C	19: 4,103,435 (GRCm38)	F197S	probably damaging	Het
Plce1	C	A	19: 38,760,091 (GRCm38)	N1755K	probably damaging	Het
Pnpla7	C	A	2: 25,041,019 (GRCm38)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,876,760 (GRCm38)	L58P	probably damaging	Het
Pomt1	C	G	2: 32,244,299 (GRCm38)	Y277*	probably null	Het
Pou4f2	A	G	8: 78,436,329 (GRCm38)	Y26H	unknown	Het
Ppm1e	A	T	11: 87,358,551 (GRCm38)	L118Q	possibly damaging	Het
Prdx2	T	A	8: 84,971,673 (GRCm38)	Y164*	probably null	Het
Prkra	T	G	2: 76,639,278 (GRCm38)	T146P	probably damaging	Het
Prpf8	A	G	11: 75,495,799 (GRCm38)	D1038G	probably damaging	Het
Rab4a	A	T	8: 123,827,374 (GRCm38)	I16L	probably benign	Het
Rai2	A	G	X: 161,778,640 (GRCm38)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,219,241 (GRCm38)	V991D	possibly damaging	Het
Rimbp2	G	A	5: 128,788,592 (GRCm38)	T557M	probably benign	Het
Rmi1	G	A	13: 58,409,466 (GRCm38)	G510R	probably damaging	Het
Sdad1	A	G	5: 92,286,825 (GRCm38)	*687Q	probably null	Het
Sema6d	T	C	2: 124,664,246 (GRCm38)	L720P	probably damaging	Het
Setx	T	G	2: 29,134,033 (GRCm38)		probably null	Het
Sgsm3	T	C	15: 81,007,999 (GRCm38)	V256A	probably benign	Het
Soga3	A	G	10: 29,196,770 (GRCm38)	D686G	probably benign	Het
Sppl2c	T	A	11: 104,187,301 (GRCm38)	I309K	possibly damaging	Het
Stard9	A	G	2: 120,700,630 (GRCm38)	E2456G	probably damaging	Het
Strn3	C	G	12: 51,648,020 (GRCm38)	R320P	probably damaging	Het
Supv3l1	A	T	10: 62,430,596 (GRCm38)	N600K	possibly damaging	Het
Syne2	T	A	12: 76,099,338 (GRCm38)	S6377T	possibly damaging	Het
Tas2r123	A	T	6: 132,847,227 (GRCm38)	H29L	probably benign	Het
Tbl3	C	T	17: 24,705,970 (GRCm38)	V52M	possibly damaging	Het
Tbp	A	G	17: 15,507,347 (GRCm38)	I145V	probably benign	Het
Tcf20	A	T	15: 82,855,709 (GRCm38)	S514T	possibly damaging	Het
Tgm4	A	G	9: 123,056,494 (GRCm38)	Y367C	probably damaging	Het
Tle1	C	T	4: 72,141,844 (GRCm38)	V258M	probably damaging	Het
Tln1	C	T	4: 43,540,661 (GRCm38)	V1447I	probably benign	Het
Tnfrsf11b	C	T	15: 54,278,226 (GRCm38)	A8T	probably benign	Het
Trim80	A	T	11: 115,448,017 (GRCm38)	T558S	probably benign	Het
Trmt6	C	A	2: 132,808,783 (GRCm38)	A302S	probably benign	Het
Tsen15	C	T	1: 152,383,380 (GRCm38)	V76I	probably damaging	Het
Ttc17	A	T	2: 94,303,640 (GRCm38)	W1067R	probably damaging	Het
Ucn3	A	T	13: 3,941,474 (GRCm38)	F59L	probably benign	Het
Ulk3	T	A	9: 57,590,740 (GRCm38)	I108N	possibly damaging	Het
Vmn2r94	A	C	17: 18,244,466 (GRCm38)	Y521D	probably damaging	Het
Vps45	T	C	3: 96,057,774 (GRCm38)	M1V	probably null	Het
Zdhhc21	C	T	4: 82,847,692 (GRCm38)	G2D	probably damaging	Het
Zfp169	A	T	13: 48,490,275 (GRCm38)	C459S	possibly damaging	Het
Zfp90	C	T	8: 106,425,368 (GRCm38)	T571M	probably damaging	Het
Zswim8	A	T	14: 20,718,871 (GRCm38)	N1119I	possibly damaging	Het

Other mutations in Vta1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01684:Vta1	APN	10	14,684,131 (GRCm38)	missense	probably damaging	0.98
IGL02331:Vta1	APN	10	14,705,394 (GRCm38)	missense	probably damaging	1.00
IGL03161:Vta1	APN	10	14,667,972 (GRCm38)	missense	possibly damaging	0.54
R2680:Vta1	UTSW	10	14,705,427 (GRCm38)	unclassified	probably benign
R4751:Vta1	UTSW	10	14,655,816 (GRCm38)	missense	probably benign	0.03
R5064:Vta1	UTSW	10	14,705,478 (GRCm38)	unclassified	probably benign
R5635:Vta1	UTSW	10	14,668,122 (GRCm38)	splice site	probably null
R6146:Vta1	UTSW	10	14,705,352 (GRCm38)	missense	probably damaging	1.00
R7853:Vta1	UTSW	10	14,655,717 (GRCm38)	missense	probably damaging	0.96
R8151:Vta1	UTSW	10	14,667,953 (GRCm38)	missense	probably damaging	1.00
R9052:Vta1	UTSW	10	14,675,948 (GRCm38)	missense	probably benign	0.14
R9143:Vta1	UTSW	10	14,676,032 (GRCm38)	missense	possibly damaging	0.83
R9172:Vta1	UTSW	10	14,675,999 (GRCm38)	missense	probably damaging	1.00
R9495:Vta1	UTSW	10	14,655,839 (GRCm38)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- AGTCTAGTACTTGGGGTCCTC -3'
(R):5'- CTTAAACCAGGCAGTAAGTTTGTC -3'

Sequencing Primer
(F):5'- TACTTGGGGTCCTCCTGGC -3'
(R):5'- CAGGCAGTAAGTTTGTCTCCTTCG -3'

Posted On

2016-08-04