Mutagenetix > Incidental Mutation

Incidental Mutation 'R1327:Vit'

157261

Institutional Source

Beutler Lab

Gene Symbol

Vit

Ensembl Gene

ENSMUSG00000024076

Gene Name

vitrin

Synonyms

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

MMRRC Submission

039393-MU

Accession Numbers

Essential gene?

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

Stock #

R1327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78815493-78934837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78932629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 579 (D579N)

Ref Sequence

ENSEMBL: ENSMUSP00000024880 (fasta)

Gene Model

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

AlphaFold

Q8VHI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024880
AA Change: D579N

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

SMART Domains

Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: D579N

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

Meta Mutation Damage Score

0.1998

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.8%
20x: 88.1%

Validation Efficiency

97% (38/39)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	T	C	1: 180,560,748 (GRCm39)	F99L	possibly damaging	Het
Arg1	T	C	10: 24,796,702 (GRCm39)		probably null	Het
Bsnd	C	T	4: 106,343,809 (GRCm39)	E166K	probably benign	Het
Cxcl9	A	G	5: 92,474,709 (GRCm39)	C30R	probably damaging	Het
Ect2l	C	T	10: 18,041,290 (GRCm39)	R296H	probably benign	Het
Epha5	C	A	5: 84,254,644 (GRCm39)	D632Y	probably damaging	Het
Fbxw11	T	C	11: 32,661,859 (GRCm39)	Y79H	probably benign	Het
Fh1	A	G	1: 175,437,310 (GRCm39)	M263T	probably benign	Het
Mrgprb1	A	T	7: 48,097,177 (GRCm39)	I245N	possibly damaging	Het
Ms4a13	A	T	19: 11,161,251 (GRCm39)	I96N	probably damaging	Het
Nipa2	G	A	7: 55,594,256 (GRCm39)	L38F	possibly damaging	Het
Pappa	T	A	4: 65,269,840 (GRCm39)		probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf111	A	T	9: 70,361,098 (GRCm39)	D454E	possibly damaging	Het
Rp1	C	T	1: 4,418,193 (GRCm39)	G973D	probably benign	Het
Rtn3	A	G	19: 7,408,376 (GRCm39)	V922A	possibly damaging	Het
Setbp1	T	C	18: 78,826,573 (GRCm39)	M1347V	probably benign	Het
Slc6a6	A	G	6: 91,703,016 (GRCm39)	I130V	probably benign	Het
Smad7	T	C	18: 75,509,016 (GRCm39)	S48P	probably benign	Het
Star	A	G	8: 26,299,865 (GRCm39)	D69G	probably benign	Het
Syne1	C	A	10: 4,998,925 (GRCm39)		probably benign	Het
Synj1	A	T	16: 90,743,743 (GRCm39)	N1212K	probably benign	Het
Tep1	T	C	14: 51,090,556 (GRCm39)	M721V	probably benign	Het
Txndc11	T	C	16: 10,934,678 (GRCm39)	D223G	possibly damaging	Het
Zan	T	C	5: 137,464,173 (GRCm39)		probably benign	Het
Zfp1005	A	T	2: 150,108,070 (GRCm39)	H10L	possibly damaging	Het
Zfp318	A	G	17: 46,724,189 (GRCm39)	E2064G	probably damaging	Het
Zftraf1	T	A	15: 76,533,376 (GRCm39)	T121S	probably damaging	Het
Zic5	T	G	14: 122,697,191 (GRCm39)		probably benign	Het
Zzef1	T	C	11: 72,784,240 (GRCm39)		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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCGACATCCTCAGTGCCAT -3'
(R):5'- CCGGATACTTGAGAAACCACTATGCAG -3'

Sequencing Primer
(F):5'- ATCCTCAGTGCCATCAGGAG -3'
(R):5'- agggggagagggagagg -3'

Posted On

2014-02-18