Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02315:Vit'

288006

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vit

Ensembl Gene

ENSMUSG00000024076

Gene Name

vitrin

Synonyms

1700052E02Rik, 1700110E08Rik, AKH, akhirin, 2810429K11Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02315

Quality Score

Status

Chromosome

Chromosomal Location

78815493-78934837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78930087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 351 (V351I)

Ref Sequence

ENSEMBL: ENSMUSP00000024880 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024880]

AlphaFold

Q8VHI5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024880
AA Change: V351I

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: V351I

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
LCCL	42	124	2.5e-45	SMART
low complexity region	148	171	N/A	INTRINSIC
VWA	263	451	7.34e-39	SMART
VWA	465	641	1.02e-46	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix (ECM) protein. The protein may be associated with cell adhesion and migration. High levels of expression of the protein in specific parts of the brain suggest its likely role in neural development. [provided by RefSeq, Jun 2016]
PHENOTYPE: Embryos homozygous for a knock-out allele show decreased spinal cord size associated with reduced cell proliferation and altered cell differentiation in the central canal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	T	A	2: 35,266,185 (GRCm39)	I162F	probably damaging	Het
Akap8	T	C	17: 32,524,475 (GRCm39)	D607G	probably benign	Het
Ap2b1	G	A	11: 83,227,625 (GRCm39)	V327I	probably damaging	Het
Bmpr1b	A	G	3: 141,563,290 (GRCm39)	V218A	probably damaging	Het
Cfap157	T	A	2: 32,668,177 (GRCm39)	D421V	probably benign	Het
Ctsm	A	G	13: 61,687,462 (GRCm39)	V100A	probably benign	Het
Cwf19l2	C	T	9: 3,410,030 (GRCm39)	T53I	probably damaging	Het
Dst	T	C	1: 34,237,746 (GRCm39)	C3663R	probably damaging	Het
Fbxo10	T	A	4: 45,062,469 (GRCm39)	H19L	probably benign	Het
Ghitm	A	T	14: 36,853,521 (GRCm39)	N106K	probably benign	Het
Hivep2	T	C	10: 14,006,983 (GRCm39)	F1194L	probably benign	Het
Hpse2	A	G	19: 42,955,386 (GRCm39)		probably benign	Het
Ighv1-67	C	T	12: 115,567,687 (GRCm39)	G56D	probably benign	Het
Ikzf4	A	G	10: 128,470,014 (GRCm39)	F502S	probably damaging	Het
Lrrc24	A	T	15: 76,602,506 (GRCm39)	F126L	probably damaging	Het
Mapt	G	A	11: 104,218,904 (GRCm39)	R355Q	probably damaging	Het
Mug1	T	A	6: 121,817,126 (GRCm39)	V65E	probably benign	Het
Myh6	T	C	14: 55,191,291 (GRCm39)	E850G	probably damaging	Het
Myh9	C	A	15: 77,654,173 (GRCm39)	V1211L	probably benign	Het
Naip2	T	A	13: 100,297,744 (GRCm39)	D764V	probably damaging	Het
Or8d2b	G	A	9: 38,789,353 (GRCm39)	V294I	probably damaging	Het
Parp6	A	G	9: 59,549,021 (GRCm39)		probably benign	Het
Ppp4r4	C	T	12: 103,566,620 (GRCm39)		probably benign	Het
Pramel11	T	C	4: 143,624,498 (GRCm39)		probably benign	Het
Pxylp1	A	G	9: 96,721,196 (GRCm39)	L56P	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Skida1	T	C	2: 18,050,816 (GRCm39)		probably benign	Het
Slc35d2	A	G	13: 64,254,849 (GRCm39)	S210P	possibly damaging	Het
Slit2	C	T	5: 48,145,213 (GRCm39)	T71M	probably damaging	Het
Spem2	A	T	11: 69,708,191 (GRCm39)	L258Q	probably damaging	Het
Stxbp2	C	T	8: 3,685,607 (GRCm39)		probably benign	Het
Zwilch	A	G	9: 64,057,549 (GRCm39)	S285P	probably damaging	Het
Zzef1	A	T	11: 72,766,083 (GRCm39)	R1537*	probably null	Het

Other mutations in Vit

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Vit	APN	17	78,909,336 (GRCm39)	critical splice donor site	probably null
IGL00929:Vit	APN	17	78,886,830 (GRCm39)	missense	probably damaging	0.98
IGL01447:Vit	APN	17	78,932,633 (GRCm39)	missense	probably damaging	1.00
IGL02000:Vit	APN	17	78,912,915 (GRCm39)	missense	possibly damaging	0.94
IGL02230:Vit	APN	17	78,927,056 (GRCm39)	missense	probably damaging	1.00
IGL02245:Vit	APN	17	78,932,480 (GRCm39)	missense	probably damaging	1.00
IGL03133:Vit	APN	17	78,873,500 (GRCm39)	missense	probably benign
R0025:Vit	UTSW	17	78,907,264 (GRCm39)	missense	probably benign	0.00
R0025:Vit	UTSW	17	78,907,264 (GRCm39)	missense	probably benign	0.00
R0520:Vit	UTSW	17	78,932,588 (GRCm39)	missense	probably damaging	1.00
R0550:Vit	UTSW	17	78,932,222 (GRCm39)	missense	possibly damaging	0.95
R0565:Vit	UTSW	17	78,932,266 (GRCm39)	missense	probably damaging	1.00
R0856:Vit	UTSW	17	78,927,086 (GRCm39)	missense	possibly damaging	0.53
R1155:Vit	UTSW	17	78,873,456 (GRCm39)	missense	probably damaging	1.00
R1327:Vit	UTSW	17	78,932,629 (GRCm39)	missense	probably damaging	1.00
R1690:Vit	UTSW	17	78,932,294 (GRCm39)	missense	probably damaging	1.00
R1802:Vit	UTSW	17	78,912,940 (GRCm39)	missense	possibly damaging	0.91
R1822:Vit	UTSW	17	78,930,265 (GRCm39)	missense	probably benign	0.01
R1826:Vit	UTSW	17	78,842,105 (GRCm39)	missense	probably benign	0.22
R1827:Vit	UTSW	17	78,853,875 (GRCm39)	critical splice donor site	probably null
R1862:Vit	UTSW	17	78,930,175 (GRCm39)	missense	probably damaging	1.00
R2235:Vit	UTSW	17	78,912,867 (GRCm39)	missense	probably benign	0.01
R2571:Vit	UTSW	17	78,894,174 (GRCm39)	missense	probably benign
R4011:Vit	UTSW	17	78,842,121 (GRCm39)	splice site	probably benign
R4190:Vit	UTSW	17	78,894,255 (GRCm39)	missense	probably benign	0.13
R4191:Vit	UTSW	17	78,894,255 (GRCm39)	missense	probably benign	0.13
R4192:Vit	UTSW	17	78,894,255 (GRCm39)	missense	probably benign	0.13
R4193:Vit	UTSW	17	78,894,255 (GRCm39)	missense	probably benign	0.13
R4635:Vit	UTSW	17	78,881,641 (GRCm39)	missense	probably benign	0.01
R4705:Vit	UTSW	17	78,932,543 (GRCm39)	missense	probably damaging	1.00
R4841:Vit	UTSW	17	78,909,308 (GRCm39)	missense	probably benign
R4842:Vit	UTSW	17	78,909,308 (GRCm39)	missense	probably benign
R4884:Vit	UTSW	17	78,932,182 (GRCm39)	missense	probably damaging	0.99
R4923:Vit	UTSW	17	78,894,270 (GRCm39)	missense	probably benign	0.03
R5128:Vit	UTSW	17	78,932,575 (GRCm39)	missense	probably damaging	1.00
R5272:Vit	UTSW	17	78,894,264 (GRCm39)	missense	probably benign
R5779:Vit	UTSW	17	78,853,855 (GRCm39)	missense	probably benign
R6596:Vit	UTSW	17	78,930,274 (GRCm39)	missense	probably benign	0.35
R6658:Vit	UTSW	17	78,930,232 (GRCm39)	missense	possibly damaging	0.93
R6792:Vit	UTSW	17	78,886,828 (GRCm39)	missense	probably damaging	1.00
R6894:Vit	UTSW	17	78,934,187 (GRCm39)	nonsense	probably null
R7032:Vit	UTSW	17	78,932,294 (GRCm39)	missense	probably damaging	1.00
R7061:Vit	UTSW	17	78,932,585 (GRCm39)	missense	probably damaging	1.00
R7102:Vit	UTSW	17	78,932,426 (GRCm39)	missense	probably damaging	1.00
R7106:Vit	UTSW	17	78,894,228 (GRCm39)	missense	probably benign
R7292:Vit	UTSW	17	78,912,927 (GRCm39)	missense	probably benign	0.03
R7413:Vit	UTSW	17	78,932,309 (GRCm39)	missense	probably damaging	1.00
R8191:Vit	UTSW	17	78,853,828 (GRCm39)	missense	probably benign	0.00
R8385:Vit	UTSW	17	78,927,066 (GRCm39)	missense	probably benign	0.01
R9106:Vit	UTSW	17	78,934,278 (GRCm39)	missense	probably damaging	1.00
R9314:Vit	UTSW	17	78,927,044 (GRCm39)	missense	probably benign	0.02
R9433:Vit	UTSW	17	78,932,413 (GRCm39)	missense	probably damaging	1.00
R9588:Vit	UTSW	17	78,930,079 (GRCm39)	missense	probably damaging	0.98
R9772:Vit	UTSW	17	78,932,398 (GRCm39)	missense	probably damaging	1.00
X0023:Vit	UTSW	17	78,873,593 (GRCm39)	missense	probably benign
X0064:Vit	UTSW	17	78,932,314 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16