Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02230:Vit'

285657

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 #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

78815493-78934837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78927056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 334 (K334E)

Ref Sequence

ENSEMBL: ENSMUSP00000024880 (fasta)

Gene Model

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

AlphaFold

Q8VHI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024880
AA Change: K334E

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

SMART Domains

Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: K334E

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
Actn1	T	A	12: 80,218,604 (GRCm39)	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,291,193 (GRCm39)	I374F	probably damaging	Het
Ecel1	T	C	1: 87,079,916 (GRCm39)	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,190 (GRCm39)	E317G	probably damaging	Het
Gm10030	T	A	9: 110,835,458 (GRCm39)		noncoding transcript	Het
Gm4884	A	T	7: 40,692,829 (GRCm39)	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,071,816 (GRCm39)	A153E	probably damaging	Het
Hc	A	G	2: 34,903,682 (GRCm39)	F991L	probably benign	Het
Hif1a	T	G	12: 73,979,224 (GRCm39)	D249E	probably damaging	Het
Hsd17b12	A	G	2: 93,875,743 (GRCm39)	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,245,956 (GRCm39)	S947P	probably damaging	Het
Kng1	G	T	16: 22,879,244 (GRCm39)		probably null	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,879 (GRCm39)	K245N	probably damaging	Het
Mdga2	G	A	12: 66,702,197 (GRCm39)	R335*	probably null	Het
Naa16	A	T	14: 79,614,801 (GRCm39)		probably benign	Het
Ncbp1	C	A	4: 46,165,272 (GRCm39)	N528K	probably benign	Het
Or10a2	A	G	7: 106,673,700 (GRCm39)	I222V	probably damaging	Het
Or7a41	T	A	10: 78,870,876 (GRCm39)	M82K	probably damaging	Het
Pipox	A	G	11: 77,772,032 (GRCm39)	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,747,925 (GRCm39)	A206S	probably damaging	Het
Rasgrf2	A	G	13: 92,136,145 (GRCm39)	I589T	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354 (GRCm39)	E24G	probably damaging	Het
Sec24a	T	C	11: 51,599,861 (GRCm39)	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,641,561 (GRCm39)	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,478,371 (GRCm39)	R83C	probably damaging	Het
Sntg1	A	T	1: 8,752,195 (GRCm39)		probably null	Het
Stmn1	A	G	4: 134,200,224 (GRCm39)	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,014,019 (GRCm39)	I16V	possibly damaging	Het
Washc4	T	C	10: 83,417,233 (GRCm39)	I876T	probably benign	Het
Wrn	A	T	8: 33,807,591 (GRCm39)	V289D	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	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
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
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