Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01532:Vti1b'

89788

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vti1b

Ensembl Gene

ENSMUSG00000021124

Gene Name

vesicle transport through interaction with t-SNAREs 1B

Synonyms

Vti1-rp1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

IGL01532

Quality Score

Status

Chromosome

Chromosomal Location

79202791-79219428 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to C at 79211912 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Tryptophan at position 1 (L1W)

Ref Sequence

ENSEMBL: ENSMUSP00000124741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055262] [ENSMUST00000162569] [ENSMUST00000162789] [ENSMUST00000163031]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000055262
AA Change: L59W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057462
Gene: ENSMUSG00000021124
AA Change: L59W

Domain	Start	End	E-Value	Type
Pfam:V-SNARE	18	97	1.2e-21	PFAM
t_SNARE	131	198	2.01e-10	SMART
low complexity region	207	224	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000162569
AA Change: L1W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124741
Gene: ENSMUSG00000021124
AA Change: L1W

Domain	Start	End	E-Value	Type
Pfam:V-SNARE	1	39	6.2e-12	PFAM
Pfam:V-SNARE_C	79	127	1.9e-15	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000162789

SMART Domains

Protein: ENSMUSP00000124260
Gene: ENSMUSG00000021124

Domain	Start	End	E-Value	Type
PDB:2QYW\|A	1	38	2e-20	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000163031
AA Change: L7W

SMART Domains

Protein: ENSMUSP00000124464
Gene: ENSMUSG00000021124
AA Change: L7W

Domain	Start	End	E-Value	Type
Pfam:V-SNARE	1	45	4.5e-15	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164610

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170289

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: While the majority of homozygous mutant mice are of normal size, some show reduced weight. A portion of these smaller mice died within 6 weeks of life. Liver cysts were identified in some of the mutant mice that were of normal size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	C	A	7: 66,558,349 (GRCm39)	N264K	probably damaging	Het
Adgrl3	C	T	5: 81,842,416 (GRCm39)	T260I	probably damaging	Het
Ambra1	G	T	2: 91,715,977 (GRCm39)	K769N	probably damaging	Het
Arel1	A	G	12: 84,980,936 (GRCm39)	V357A	possibly damaging	Het
Atp11b	T	A	3: 35,903,651 (GRCm39)	C76*	probably null	Het
AW112010	C	A	19: 11,025,433 (GRCm39)		noncoding transcript	Het
Bfar	A	T	16: 13,505,251 (GRCm39)		probably benign	Het
Ccdc70	T	G	8: 22,463,299 (GRCm39)	L30V	probably damaging	Het
Cep20	A	G	16: 14,122,375 (GRCm39)	S130P	probably benign	Het
Chrm5	C	T	2: 112,309,577 (GRCm39)	R513Q	probably benign	Het
Crem	G	A	18: 3,276,732 (GRCm39)	T7I	probably benign	Het
Cyp4f39	C	T	17: 32,689,928 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,208,660 (GRCm39)	T849A	probably benign	Het
Dock8	G	T	19: 25,146,805 (GRCm39)	G1428V	probably damaging	Het
Eomes	T	C	9: 118,311,317 (GRCm39)	I380T	probably damaging	Het
Fam13a	T	C	6: 58,917,280 (GRCm39)	D532G	probably damaging	Het
Gm10061	G	T	16: 88,948,190 (GRCm39)	*55L	probably null	Het
Gm27438	T	G	2: 87,083,269 (GRCm39)		probably benign	Het
Gpalpp1	T	C	14: 76,339,942 (GRCm39)	K124E	probably benign	Het
Hgs	T	A	11: 120,368,335 (GRCm39)		probably null	Het
Hpn	T	A	7: 30,802,938 (GRCm39)	M121L	possibly damaging	Het
Il1r1	T	C	1: 40,334,088 (GRCm39)		probably null	Het
Jag2	A	T	12: 112,877,983 (GRCm39)	C583S	probably damaging	Het
Katnal2	T	C	18: 77,099,696 (GRCm39)	H146R	probably benign	Het
Ldah	T	C	12: 8,270,596 (GRCm39)		probably benign	Het
Lvrn	T	A	18: 47,033,551 (GRCm39)	Y921N	probably damaging	Het
Muc5b	A	G	7: 141,423,743 (GRCm39)	Y4572C	possibly damaging	Het
Myo16	A	G	8: 10,450,551 (GRCm39)	S518G	probably benign	Het
Ncf1	T	C	5: 134,255,447 (GRCm39)	N148S	probably benign	Het
Nes	T	G	3: 87,885,654 (GRCm39)	D1260E	possibly damaging	Het
Nup210	C	A	6: 91,062,981 (GRCm39)		probably benign	Het
Or52b4i	T	C	7: 102,191,863 (GRCm39)	L240P	probably damaging	Het
Rnf31	C	A	14: 55,840,080 (GRCm39)	Q968K	probably damaging	Het
Ros1	A	G	10: 51,967,034 (GRCm39)		probably benign	Het
Ryk	T	C	9: 102,774,465 (GRCm39)	Y400H	probably benign	Het
Slc4a5	T	A	6: 83,250,022 (GRCm39)		probably null	Het
Sptssb	A	G	3: 69,728,202 (GRCm39)		probably benign	Het
Sstr5	T	C	17: 25,710,305 (GRCm39)	D308G	probably damaging	Het
Taf2	A	G	15: 54,912,882 (GRCm39)	W493R	possibly damaging	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Wdr1	T	C	5: 38,692,530 (GRCm39)	Y125C	probably damaging	Het

Other mutations in Vti1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1749:Vti1b	UTSW	12	79,211,807 (GRCm39)	missense	probably damaging	0.97
R6306:Vti1b	UTSW	12	79,207,323 (GRCm39)	nonsense	probably null
R7278:Vti1b	UTSW	12	79,213,153 (GRCm39)	missense	probably benign	0.01
R7762:Vti1b	UTSW	12	79,211,720 (GRCm39)	critical splice donor site	probably null

Posted On

2013-12-03