Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02026:Vsx1'

184182

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vsx1

Ensembl Gene

ENSMUSG00000033080

Gene Name

visual system homeobox 1

Synonyms

CHX10-like

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

IGL02026

Quality Score

Status

Chromosome

Chromosomal Location

150680702-150689360 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 150688527 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 145 (V145D)

Ref Sequence

ENSEMBL: ENSMUSP00000039088 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046095]

Predicted Effect

probably benign
Transcript: ENSMUST00000046095
AA Change: V145D

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

SMART Domains

Protein: ENSMUSP00000039088
Gene: ENSMUSG00000033080
AA Change: V145D

Domain	Start	End	E-Value	Type
low complexity region	63	77	N/A	INTRINSIC
low complexity region	80	93	N/A	INTRINSIC
low complexity region	99	116	N/A	INTRINSIC
HOX	171	233	1.63e-26	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutation of this locus impairs cone bipolar cell differentiation and affects retinal electrophysiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,571,802	V237E	possibly damaging	Het
Amh	T	C	10: 80,805,408	L54P	probably damaging	Het
Aoc3	T	C	11: 101,337,595	S743P	probably benign	Het
Arhgap23	T	A	11: 97,451,581	W19R	probably damaging	Het
Atm	C	T	9: 53,442,417		probably null	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Ccdc47	T	C	11: 106,205,027	E281G	probably damaging	Het
Col7a1	A	C	9: 108,968,029	K1650N	probably damaging	Het
Evi2b	T	C	11: 79,515,787	S321G	probably damaging	Het
Fancm	T	G	12: 65,105,734	V988G	probably benign	Het
Gbp2	A	G	3: 142,633,480	Y431C	probably damaging	Het
Gclc	T	C	9: 77,792,060	V530A	probably benign	Het
Gm4985	T	G	X: 23,957,994	H314P	probably damaging	Het
Gm5885	T	C	6: 133,531,328		noncoding transcript	Het
Hlcs	A	T	16: 94,134,705	I576N	probably damaging	Het
Hnrnpul1	A	T	7: 25,745,162	F240L	probably damaging	Het
Itgb6	C	A	2: 60,628,066	V448F	possibly damaging	Het
Lama1	A	G	17: 67,809,292	T2385A	possibly damaging	Het
Lamc2	C	T	1: 153,144,736		probably benign	Het
Lrrc32	C	T	7: 98,499,560	R516C	probably benign	Het
Lrrtm3	T	C	10: 64,088,452	N312S	probably damaging	Het
Ltbp4	G	A	7: 27,327,417	R468*	probably null	Het
Man1a	T	C	10: 54,014,473	E373G	probably damaging	Het
Myo1h	A	T	5: 114,323,444	Q250L	probably null	Het
Myo9a	T	C	9: 59,905,962	V2077A	probably damaging	Het
Olfr114	A	G	17: 37,589,407		probably benign	Het
Otud5	C	T	X: 7,871,993		probably benign	Het
Pcsk1	A	G	13: 75,112,653	S332G	probably benign	Het
Pde8b	A	G	13: 95,034,361	V549A	probably damaging	Het
Pgap1	A	T	1: 54,494,819	M645K	probably benign	Het
Pm20d1	A	T	1: 131,801,759	R175*	probably null	Het
Polr2b	A	G	5: 77,332,252	N585S	probably benign	Het
Recql	T	A	6: 142,366,668	K41*	probably null	Het
Sccpdh	A	T	1: 179,678,069	H138L	possibly damaging	Het
Sec31a	A	T	5: 100,369,626	S951T	probably benign	Het
Slc44a4	A	T	17: 34,921,856		probably benign	Het
Tchhl1	G	T	3: 93,470,555	A189S	probably damaging	Het
Tdrd12	G	A	7: 35,504,233		probably benign	Het
Trbv12-1	A	G	6: 41,113,994	D100G	probably damaging	Het
Ttll13	T	A	7: 80,260,379	S757T	probably benign	Het
Vipas39	T	A	12: 87,251,709		probably benign	Het
Vmn1r64	G	A	7: 5,883,650	P298L	possibly damaging	Het
Vmn1r81	A	G	7: 12,260,505	S59P	probably damaging	Het
Wdfy4	T	A	14: 33,093,300	N1586I	probably damaging	Het
Zan	T	A	5: 137,405,464		probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zzef1	T	A	11: 72,881,338	M1707K	probably benign	Het

Other mutations in Vsx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:Vsx1	APN	2	150684575	missense	possibly damaging	0.95
IGL03089:Vsx1	APN	2	150685590	splice site	probably benign
R1725:Vsx1	UTSW	2	150686200	missense	probably benign	0.41
R4619:Vsx1	UTSW	2	150688609	missense	probably benign
R5471:Vsx1	UTSW	2	150683066	missense	probably benign	0.06
R5956:Vsx1	UTSW	2	150688537	missense	possibly damaging	0.61
R6499:Vsx1	UTSW	2	150688521	missense	probably benign	0.13
Z1177:Vsx1	UTSW	2	150688742	nonsense	probably null

Posted On

2014-05-07