Mutagenetix > Incidental Mutation

Incidental Mutation 'R6516:Vti1a'

520771

Institutional Source

Beutler Lab

Gene Symbol

Vti1a

Ensembl Gene

ENSMUSG00000024983

Gene Name

vesicle transport through interaction with t-SNAREs 1A

Synonyms

4921537J05Rik, Vti1-rp2, 1110014F16Rik, 1110018K19Rik

MMRRC Submission

044643-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6516 (G1)

Quality Score

178.009

Status

Validated

Chromosome

Chromosomal Location

55304727-55615741 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55369390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 94 (A94V)

Ref Sequence

ENSEMBL: ENSMUSP00000153629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095950] [ENSMUST00000223690] [ENSMUST00000225529]

AlphaFold

O89116

Predicted Effect

probably damaging
Transcript: ENSMUST00000095950
AA Change: A94V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093644
Gene: ENSMUSG00000024983
AA Change: A94V

Domain	Start	End	E-Value	Type
Pfam:V-SNARE	12	90	7.3e-29	PFAM
t_SNARE	117	184	4.61e-10	SMART
low complexity region	193	211	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000223690
AA Change: A94V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225392

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225529
AA Change: A94V

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Meta Mutation Damage Score

0.1308

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the family of soluble N-ethylmaleimide-sensitive fusion protein-attachment protein receptors (SNAREs) that function in intracellular trafficking. This family member is involved in vesicular transport between endosomes and the trans-Golgi network. It is a vesicle-associated SNARE (v-SNARE) that interacts with target membrane SNAREs (t-SNAREs). Polymorphisms in this gene have been associated with binocular function, and also with susceptibility to colorectal and lung cancers. A recurrent rearrangement has been found between this gene and the transcription factor 7-like 2 (TCF7L2) gene in colorectal cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930558K02Rik	A	T	1: 161,780,235 (GRCm39)	V93E	probably benign	Het
Adam18	A	G	8: 25,164,703 (GRCm39)	L4P	probably damaging	Het
Adcy8	A	T	15: 64,571,236 (GRCm39)	Y1136N	probably damaging	Het
Adgrl3	A	G	5: 81,613,119 (GRCm39)	Y184C	probably damaging	Het
Ankrd6	G	A	4: 32,836,427 (GRCm39)	R43W	probably damaging	Het
Ano8	G	T	8: 71,934,424 (GRCm39)		probably null	Het
Arhgap31	A	G	16: 38,429,766 (GRCm39)	F370L	possibly damaging	Het
C7	A	G	15: 5,086,563 (GRCm39)	V26A	probably damaging	Het
Cimap1a	G	A	7: 140,428,718 (GRCm39)	G128S	probably damaging	Het
Clec4a2	C	A	6: 123,116,365 (GRCm39)	Q153K	probably damaging	Het
Cyp2c67	T	A	19: 39,605,873 (GRCm39)	D341V	probably damaging	Het
Ddo	T	A	10: 40,507,741 (GRCm39)	V46E	probably damaging	Het
Deup1	A	C	9: 15,521,910 (GRCm39)	M85R	probably damaging	Het
Dmxl2	A	T	9: 54,323,960 (GRCm39)	S1141R	probably damaging	Het
Dnah2	A	G	11: 69,356,212 (GRCm39)	F2147L	probably benign	Het
Dock10	T	C	1: 80,518,178 (GRCm39)	E1298G	probably damaging	Het
Dock4	T	A	12: 40,781,898 (GRCm39)	V701E	possibly damaging	Het
Dthd1	A	T	5: 62,996,607 (GRCm39)	K447N	probably benign	Het
Eno2	G	T	6: 124,738,672 (GRCm39)		probably null	Het
Fastkd5	T	A	2: 130,456,221 (GRCm39)	T790S	possibly damaging	Het
Fer1l4	C	T	2: 155,877,119 (GRCm39)	V1139M	probably damaging	Het
Gpbp1	A	T	13: 111,589,636 (GRCm39)	H111Q	probably benign	Het
Grk3	A	T	5: 113,109,415 (GRCm39)		probably benign	Het
Itpr3	C	T	17: 27,310,344 (GRCm39)	A403V	probably benign	Het
Kcnc2	A	G	10: 112,297,905 (GRCm39)	T610A	probably benign	Het
Kcnh1	T	A	1: 192,101,089 (GRCm39)	D560E	possibly damaging	Het
Klc4	A	T	17: 46,953,181 (GRCm39)	N116K	probably damaging	Het
Krba1	C	T	6: 48,390,206 (GRCm39)	Q656*	probably null	Het
Mchr1	A	G	15: 81,122,069 (GRCm39)	Y273C	probably damaging	Het
Myh15	T	A	16: 48,957,996 (GRCm39)	C938S	probably benign	Het
Nutm1	T	C	2: 112,081,562 (GRCm39)	E367G	probably damaging	Het
Or10a3n	A	T	7: 108,492,972 (GRCm39)	I214K	probably damaging	Het
Or4e2	A	T	14: 52,688,586 (GRCm39)	T239S	probably damaging	Het
Or5w18	A	T	2: 87,633,114 (GRCm39)	Y127F	possibly damaging	Het
Or8b48	A	G	9: 38,492,768 (GRCm39)	N65S	probably damaging	Het
Pikfyve	G	T	1: 65,304,940 (GRCm39)	M1697I	probably benign	Het
Plcd1	A	G	9: 118,905,271 (GRCm39)	S147P	probably damaging	Het
Plin3	G	A	17: 56,593,223 (GRCm39)	P113L	probably damaging	Het
Pum3	C	A	19: 27,403,408 (GRCm39)	S31I	probably benign	Het
Robo1	T	C	16: 72,821,241 (GRCm39)	V1327A	probably benign	Het
Rpl15-ps6	A	G	15: 52,341,200 (GRCm39)		noncoding transcript	Het
Rpl34	G	A	3: 130,522,716 (GRCm39)	P50L	probably benign	Het
Scnn1b	T	C	7: 121,511,335 (GRCm39)	S341P	probably damaging	Het
Sh3bp5	A	T	14: 31,097,629 (GRCm39)	M362K	possibly damaging	Het
Slc24a5	A	G	2: 124,930,027 (GRCm39)	T443A	probably benign	Het
Slc25a12	T	C	2: 71,154,427 (GRCm39)	Y81C	probably damaging	Het
Slc43a3	A	G	2: 84,788,105 (GRCm39)	T496A	probably benign	Het
Smap2	C	T	4: 120,840,303 (GRCm39)		probably null	Het
Sptbn5	T	A	2: 119,878,431 (GRCm39)		probably benign	Het
Taar5	A	G	10: 23,847,564 (GRCm39)	S321G	possibly damaging	Het
Tbx21	T	C	11: 96,990,782 (GRCm39)	I299V	possibly damaging	Het
Tcerg1	T	C	18: 42,663,957 (GRCm39)		probably null	Het
Tenm3	G	C	8: 48,870,257 (GRCm39)	Q179E	probably benign	Het
Tmem176a	T	G	6: 48,821,002 (GRCm39)		probably null	Het
Tmem236	T	C	2: 14,200,791 (GRCm39)	S119P	probably benign	Het
Tmprss11a	C	T	5: 86,567,987 (GRCm39)	V247M	probably damaging	Het
Tnks1bp1	T	C	2: 84,901,071 (GRCm39)	S1593P	probably damaging	Het
Ttc9b	T	A	7: 27,355,412 (GRCm39)	D227E	probably benign	Het
Usp33	A	C	3: 152,079,053 (GRCm39)	Q435P	probably benign	Het
Wdr3	A	G	3: 100,052,992 (GRCm39)	Y587H	probably damaging	Het
Wwc1	G	A	11: 35,758,129 (GRCm39)	A739V	probably benign	Het
Zfp628	C	G	7: 4,923,201 (GRCm39)	Y474*	probably null	Het
Zfp820	A	T	17: 22,038,354 (GRCm39)	C325S	probably damaging	Het

Other mutations in Vti1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03130:Vti1a	APN	19	55,380,279 (GRCm39)	missense	probably damaging	1.00
IGL03399:Vti1a	APN	19	55,487,703 (GRCm39)	missense	probably benign	0.10
R2484:Vti1a	UTSW	19	55,369,411 (GRCm39)	missense	possibly damaging	0.83
R3736:Vti1a	UTSW	19	55,369,364 (GRCm39)	splice site	probably null
R4416:Vti1a	UTSW	19	55,369,380 (GRCm39)	missense	probably benign	0.32
R4844:Vti1a	UTSW	19	55,380,297 (GRCm39)	missense	probably damaging	1.00
R6902:Vti1a	UTSW	19	55,487,673 (GRCm39)	critical splice acceptor site	probably null
R8077:Vti1a	UTSW	19	55,564,917 (GRCm39)	missense	probably benign	0.07
R9103:Vti1a	UTSW	19	55,316,865 (GRCm39)	missense	probably benign	0.00
R9449:Vti1a	UTSW	19	55,612,278 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TTTCCACTAAGCTTGTGGATTCTGG -3'
(R):5'- GAAGTTGATTAAGACTCAGCTTTGC -3'

Sequencing Primer
(F):5'- ACTAAGCTTGTGGATTCTGGAATTTG -3'
(R):5'- CAGTATCGCTTCCACATGAGTAG -3'

Posted On

2018-06-06