Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03133:Vit'

410416

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: 0.070) question?

Stock #

IGL03133

Quality Score

Status

Chromosome

Chromosomal Location

78815493-78934837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78873500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 59 (M59L)

Ref Sequence

ENSEMBL: ENSMUSP00000024880 (fasta)

Gene Model

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

AlphaFold

Q8VHI5

Predicted Effect

probably benign
Transcript: ENSMUST00000024880
AA Change: M59L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: M59L

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	T	C	10: 77,161,730 (GRCm39)		probably benign	Het
Ano5	C	T	7: 51,226,260 (GRCm39)	R505*	probably null	Het
Asphd1	A	G	7: 126,547,452 (GRCm39)	C284R	possibly damaging	Het
Cep192	T	A	18: 67,943,176 (GRCm39)	W158R	probably benign	Het
Ces2h	T	A	8: 105,743,411 (GRCm39)	D188E	probably damaging	Het
Dab1	G	A	4: 104,584,777 (GRCm39)	V306I	probably benign	Het
Dcc	A	G	18: 71,396,026 (GRCm39)		probably benign	Het
Dennd6b	T	A	15: 89,072,726 (GRCm39)		probably null	Het
Dmwd	T	A	7: 18,810,562 (GRCm39)	V123D	probably damaging	Het
Eno1	A	G	4: 150,329,801 (GRCm39)		probably benign	Het
Fat2	G	A	11: 55,176,869 (GRCm39)	T1542I	probably benign	Het
Fcrl1	T	C	3: 87,296,699 (GRCm39)	S274P	probably benign	Het
Gmpr	T	C	13: 45,670,494 (GRCm39)	V72A	probably benign	Het
Kank2	T	C	9: 21,706,937 (GRCm39)	E27G	probably null	Het
Mtor	G	T	4: 148,568,776 (GRCm39)	A1099S	probably benign	Het
Ofcc1	T	C	13: 40,226,244 (GRCm39)	I763V	probably benign	Het
Or5m10	G	T	2: 85,717,478 (GRCm39)	E111D	probably damaging	Het
Or5p63	G	T	7: 107,811,594 (GRCm39)	S47R	possibly damaging	Het
Or8b12i	T	A	9: 20,082,009 (GRCm39)	N286I	probably damaging	Het
Or8k27	A	G	2: 86,276,002 (GRCm39)	I108T	probably damaging	Het
Piwil1	C	A	5: 128,819,093 (GRCm39)	H201N	probably benign	Het
Slc26a7	C	T	4: 14,532,576 (GRCm39)	V433M	possibly damaging	Het
Spata31d1c	T	C	13: 65,182,799 (GRCm39)	Y114H	probably benign	Het
Stx7	A	T	10: 24,060,936 (GRCm39)	N221I	probably damaging	Het
Tbc1d31	A	T	15: 57,805,855 (GRCm39)		probably benign	Het
Ubxn7	T	G	16: 32,200,599 (GRCm39)	L393R	probably damaging	Het
Vmn1r5	T	A	6: 56,962,600 (GRCm39)	C92S	probably benign	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
IGL02315:Vit	APN	17	78,930,087 (GRCm39)	missense	possibly damaging	0.80
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

2016-08-02