Mutagenetix > Incidental Mutation

Incidental Mutation 'R1862:Vit'

204073

Institutional Source

Beutler Lab

Gene Symbol

Vit

Ensembl Gene

ENSMUSG00000024076

Gene Name

vitrin

Synonyms

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

MMRRC Submission

039885-MU

Accession Numbers

Essential gene?

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

Stock #

R1862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78815493-78934837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78930175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 380 (D380G)

Ref Sequence

ENSEMBL: ENSMUSP00000024880 (fasta)

Gene Model

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

AlphaFold

Q8VHI5

Predicted Effect

probably damaging
Transcript: ENSMUST00000024880
AA Change: D380G

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

SMART Domains

Protein: ENSMUSP00000024880
Gene: ENSMUSG00000024076
AA Change: D380G

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

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 90.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	A	14: 8,241,416 (GRCm38)	E565D	probably benign	Het
Adam30	A	T	3: 98,069,429 (GRCm39)	K421*	probably null	Het
Atp6v1b1	A	G	6: 83,726,834 (GRCm39)		probably null	Het
Cacna1a	A	T	8: 85,142,559 (GRCm39)	I96F	possibly damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cdh8	T	A	8: 99,917,026 (GRCm39)	D363V	probably damaging	Het
Cecr2	T	C	6: 120,734,902 (GRCm39)	Y685H	probably damaging	Het
Cibar1	C	T	4: 12,155,717 (GRCm39)	V306I	possibly damaging	Het
Cmklr1	T	C	5: 113,752,468 (GRCm39)	T178A	probably damaging	Het
Col16a1	G	A	4: 129,986,575 (GRCm39)		probably null	Het
Col4a1	C	T	8: 11,276,439 (GRCm39)		probably benign	Het
Coro2a	T	A	4: 46,548,797 (GRCm39)	I166F	possibly damaging	Het
Cry2	T	C	2: 92,254,911 (GRCm39)	H148R	probably damaging	Het
Crygd	T	C	1: 65,101,133 (GRCm39)	Y154C	probably benign	Het
Cubn	T	C	2: 13,313,372 (GRCm39)	Y3066C	probably damaging	Het
Defb15	C	T	8: 22,420,002 (GRCm39)	E42K	possibly damaging	Het
Dnah12	A	G	14: 26,418,553 (GRCm39)	D147G	probably benign	Het
Dnah12	A	T	14: 26,430,412 (GRCm39)	Y340F	probably benign	Het
Dot1l	G	T	10: 80,619,373 (GRCm39)	R193L	probably damaging	Het
Dusp29	A	G	14: 21,736,757 (GRCm39)	V115A	probably benign	Het
Esd	A	C	14: 74,979,514 (GRCm39)	Y119S	probably damaging	Het
Esp36	A	G	17: 38,730,330 (GRCm39)		probably benign	Het
Etfbkmt	T	A	6: 149,045,649 (GRCm39)	M1K	probably null	Het
Exph5	A	G	9: 53,287,548 (GRCm39)	H1543R	probably benign	Het
Fbxo16	A	G	14: 65,508,252 (GRCm39)	T23A	probably damaging	Het
Gorasp2	C	A	2: 70,509,808 (GRCm39)	H136Q	probably damaging	Het
Hdc	T	A	2: 126,439,853 (GRCm39)	I367F	probably benign	Het
Hmcn1	C	T	1: 150,514,651 (GRCm39)	V3574M	probably benign	Het
Ilvbl	A	G	10: 78,419,958 (GRCm39)	D592G	probably benign	Het
Inmt	G	A	6: 55,151,868 (GRCm39)	A34V	probably damaging	Het
Ints9	A	C	14: 65,263,862 (GRCm39)	H378P	probably benign	Het
Kcnh7	T	A	2: 62,618,098 (GRCm39)	I464L	possibly damaging	Het
Kcnt2	T	A	1: 140,353,068 (GRCm39)	V259D	probably damaging	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrba	T	C	3: 86,680,510 (GRCm39)		probably null	Het
Mapk1	T	A	16: 16,844,293 (GRCm39)	S22T	probably benign	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Mgat5	C	T	1: 127,387,706 (GRCm39)	P554L	probably damaging	Het
Mki67	T	C	7: 135,301,090 (GRCm39)	T1315A	probably benign	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Mroh3	T	A	1: 136,113,726 (GRCm39)	I688F	probably benign	Het
Myo1d	A	T	11: 80,553,874 (GRCm39)	Y536N	probably damaging	Het
Neb	C	T	2: 52,052,199 (GRCm39)		probably null	Het
Noc2l	A	G	4: 156,322,165 (GRCm39)	R161G	probably benign	Het
Nup54	T	A	5: 92,567,426 (GRCm39)	I375L	possibly damaging	Het
Nup93	T	C	8: 95,032,730 (GRCm39)	F539L	probably damaging	Het
Or10x1	T	A	1: 174,197,018 (GRCm39)	H178Q	probably damaging	Het
Or2n1e	A	G	17: 38,586,235 (GRCm39)	E191G	probably damaging	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or8b12	T	A	9: 37,658,264 (GRCm39)	M278K	probably benign	Het
Panx1	A	T	9: 14,918,724 (GRCm39)	D378E	probably damaging	Het
Papss1	T	A	3: 131,288,945 (GRCm39)	V170D	possibly damaging	Het
Pcnx1	T	C	12: 81,965,506 (GRCm39)	S558P	probably damaging	Het
Pde3a	G	T	6: 141,433,239 (GRCm39)	A757S	probably damaging	Het
Pde3a	T	A	6: 141,196,079 (GRCm39)	I255N	probably damaging	Het
Pdzph1	A	G	17: 59,229,578 (GRCm39)	Y1027H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Polr1a	G	A	6: 71,886,187 (GRCm39)	G14D	probably damaging	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Ptgr3	T	C	18: 84,113,443 (GRCm39)	V373A	possibly damaging	Het
Ptprc	T	C	1: 138,039,965 (GRCm39)	S311G	probably benign	Het
Rapgefl1	G	A	11: 98,733,035 (GRCm39)	R205K	probably benign	Het
Rcan2	A	T	17: 44,347,980 (GRCm39)		probably null	Het
Rock1	A	G	18: 10,079,207 (GRCm39)	I1087T	probably damaging	Het
Sectm1b	A	G	11: 120,945,768 (GRCm39)	I191T	possibly damaging	Het
Septin4	A	G	11: 87,458,061 (GRCm39)	H145R	possibly damaging	Het
Setd1b	T	C	5: 123,285,676 (GRCm39)	S241P	unknown	Het
Slco1a8	T	C	6: 141,949,149 (GRCm39)	M76V	possibly damaging	Het
Srpk2	T	C	5: 23,729,148 (GRCm39)	K497R	probably benign	Het
Sspo	T	C	6: 48,467,940 (GRCm39)	S4296P	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tank	T	C	2: 61,480,256 (GRCm39)	F264S	probably damaging	Het
Ticrr	T	C	7: 79,344,955 (GRCm39)	S1607P	probably damaging	Het
Trim30a	A	G	7: 104,060,405 (GRCm39)	V457A	probably damaging	Het
Trim43b	T	A	9: 88,967,624 (GRCm39)	K336N	probably damaging	Het
Trim47	T	C	11: 115,996,963 (GRCm39)	Q598R	probably damaging	Het
Tspan12	T	C	6: 21,851,022 (GRCm39)	N18S	probably damaging	Het
Ubap2	A	G	4: 41,221,607 (GRCm39)	S231P	probably benign	Het
Vmn2r2	T	C	3: 64,041,942 (GRCm39)	N258D	possibly damaging	Het
Vmn2r52	C	T	7: 9,907,333 (GRCm39)	C131Y	possibly damaging	Het
Zfp58	A	T	13: 67,639,307 (GRCm39)	F395I	probably damaging	Het
Zfp940	C	A	7: 29,544,435 (GRCm39)	G491C	probably damaging	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
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
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'- ACTTCTTTGTGCCGCTGTAAAC -3'
(R):5'- CTCTTAGACCACGAGAACGCTC -3'

Sequencing Primer
(F):5'- GTGCCGCTGTAAACTGTTC -3'
(R):5'- ACAGCGGCTTCTGTGCTG -3'

Posted On

2014-06-23