Mutagenetix > Incidental Mutation

Incidental Mutation 'R1725:Vsx1'

198043

Institutional Source

Beutler Lab

Gene Symbol

Vsx1

Ensembl Gene

ENSMUSG00000033080

Gene Name

visual system homeobox 1

Synonyms

CHX10-like

MMRRC Submission

039757-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R1725 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150522622-150531057 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150528120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 158 (N158D)

Ref Sequence

ENSEMBL: ENSMUSP00000039088 (fasta)

Gene Model

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

AlphaFold

Q91V10

Predicted Effect

probably benign
Transcript: ENSMUST00000046095
AA Change: N158D

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039088
Gene: ENSMUSG00000033080
AA Change: N158D

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

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,424,163 (GRCm39)	F109L	probably benign	Het
Aacs	T	C	5: 125,559,999 (GRCm39)		probably null	Het
Abcc6	C	A	7: 45,641,781 (GRCm39)	D866Y	possibly damaging	Het
Acox3	T	C	5: 35,749,516 (GRCm39)	Y214H	probably benign	Het
Acss2	A	G	2: 155,398,764 (GRCm39)	T404A	possibly damaging	Het
Adgrb3	T	A	1: 25,865,381 (GRCm39)	E154V	probably damaging	Het
Akap12	G	A	10: 4,303,942 (GRCm39)	V251M	probably damaging	Het
Ambp	A	T	4: 63,062,513 (GRCm39)	M242K	possibly damaging	Het
Angptl7	T	G	4: 148,584,469 (GRCm39)	Y93S	probably damaging	Het
Apof	A	G	10: 128,105,680 (GRCm39)		probably benign	Het
Arv1	T	C	8: 125,455,191 (GRCm39)	F135L	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cacna1s	C	T	1: 136,026,361 (GRCm39)	T1116I	probably damaging	Het
Ccdc91	A	G	6: 147,493,541 (GRCm39)	E311G	unknown	Het
Cenpf	T	C	1: 189,412,676 (GRCm39)	T196A	probably damaging	Het
Chd8	A	T	14: 52,470,030 (GRCm39)	S527T	probably benign	Het
Csmd3	A	C	15: 47,460,203 (GRCm39)	N3529K	probably damaging	Het
Csnk2a1	T	C	2: 152,099,892 (GRCm39)	V116A	probably damaging	Het
Dhx36	T	G	3: 62,414,360 (GRCm39)	M1L	probably benign	Het
Diaph3	A	G	14: 87,203,759 (GRCm39)		probably null	Het
Ephb2	G	A	4: 136,387,089 (GRCm39)	Q714*	probably null	Het
Eprs1	T	A	1: 185,139,189 (GRCm39)	L858Q	probably damaging	Het
Espl1	G	T	15: 102,221,656 (GRCm39)	V982L	probably benign	Het
Eya2	A	G	2: 165,566,605 (GRCm39)	T219A	probably benign	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Fbxl18	C	T	5: 142,872,458 (GRCm39)	R259H	probably damaging	Het
Gcc2	G	A	10: 58,139,937 (GRCm39)	R1629H	possibly damaging	Het
Gje1	G	A	10: 14,592,168 (GRCm39)	R205*	probably null	Het
Gm10277	TC	T	11: 77,676,828 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,743,115 (GRCm39)		probably benign	Het
Krt6a	A	T	15: 101,600,992 (GRCm39)	M268K	probably damaging	Het
Loxhd1	T	A	18: 77,380,937 (GRCm39)	S85T	probably benign	Het
Loxl3	G	A	6: 83,012,574 (GRCm39)	V38I	probably benign	Het
Mill2	A	G	7: 18,573,993 (GRCm39)	D26G	probably benign	Het
Muc15	T	C	2: 110,561,591 (GRCm39)	L9S	probably damaging	Het
Nat8f4	G	A	6: 85,878,080 (GRCm39)	R148*	probably null	Het
Nav3	A	T	10: 109,659,451 (GRCm39)	V722E	probably damaging	Het
Nfkb1	C	A	3: 135,373,519 (GRCm39)	G10W	probably damaging	Het
Or10j5	C	T	1: 172,784,908 (GRCm39)	P182L	possibly damaging	Het
Or2ag1	A	T	7: 106,313,265 (GRCm39)	F208I	probably benign	Het
Or2t1	T	G	14: 14,328,977 (GRCm38)	Y289D	probably damaging	Het
Or5b120	T	C	19: 13,479,883 (GRCm39)	Y59H	probably damaging	Het
Pcdhb22	T	A	18: 37,653,241 (GRCm39)	C313S	probably benign	Het
Plin4	A	G	17: 56,413,473 (GRCm39)	L384P	probably damaging	Het
Pm20d1	T	C	1: 131,743,796 (GRCm39)	I487T	probably damaging	Het
Prex1	A	T	2: 166,443,656 (GRCm39)	D334E	probably damaging	Het
Psg28	A	T	7: 18,161,936 (GRCm39)	I189N	possibly damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rae1	A	G	2: 172,848,754 (GRCm39)	I123M	possibly damaging	Het
Sh3glb2	C	A	2: 30,240,679 (GRCm39)	E129*	probably null	Het
Simc1	T	C	13: 54,674,219 (GRCm39)	S856P	probably damaging	Het
Slc19a1	T	A	10: 76,877,672 (GRCm39)	M69K	probably benign	Het
Slc30a8	A	T	15: 52,197,000 (GRCm39)	I304F	possibly damaging	Het
Snx1	A	G	9: 66,005,611 (GRCm39)		probably null	Het
Spmip5	T	G	19: 58,781,194 (GRCm39)	K10T	probably benign	Het
Stx18	G	A	5: 38,292,599 (GRCm39)	V234M	probably damaging	Het
Sulf2	T	C	2: 165,923,281 (GRCm39)	T615A	probably damaging	Het
Sult3a2	T	A	10: 33,655,705 (GRCm39)	K91N	probably benign	Het
Tet1	A	G	10: 62,650,256 (GRCm39)	S22P	probably damaging	Het
Tmc3	T	C	7: 83,253,940 (GRCm39)	V362A	probably damaging	Het
Trim16	A	C	11: 62,711,331 (GRCm39)	M1L	possibly damaging	Het
Trp53bp1	C	T	2: 121,082,481 (GRCm39)	V10I	possibly damaging	Het
Ttc12	T	G	9: 49,369,415 (GRCm39)	D235A	probably benign	Het
Ttn	T	C	2: 76,692,727 (GRCm39)	R452G	possibly damaging	Het
Ugt2b38	A	T	5: 87,559,730 (GRCm39)	H387Q	probably damaging	Het
Usp48	T	A	4: 137,360,733 (GRCm39)	L20*	probably null	Het
Utrn	T	C	10: 12,539,263 (GRCm39)	D1918G	probably damaging	Het
Vmn1r158	A	G	7: 22,490,072 (GRCm39)	S46P	probably benign	Het
Vmn2r97	T	A	17: 19,149,397 (GRCm39)	W262R	probably benign	Het
Vps13d	A	T	4: 144,869,830 (GRCm39)	S1917T	possibly damaging	Het
Vwf	G	A	6: 125,623,245 (GRCm39)	V1781I	probably benign	Het
Wrap73	T	C	4: 154,233,209 (GRCm39)	Y128H	possibly damaging	Het
Zfp472	A	G	17: 33,196,311 (GRCm39)	K129E	possibly damaging	Het
Zscan18	A	T	7: 12,504,784 (GRCm39)	L611Q	probably damaging	Het

Other mutations in Vsx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02026:Vsx1	APN	2	150,530,447 (GRCm39)	missense	probably benign
IGL02216:Vsx1	APN	2	150,526,495 (GRCm39)	missense	possibly damaging	0.95
IGL03089:Vsx1	APN	2	150,527,510 (GRCm39)	splice site	probably benign
R4619:Vsx1	UTSW	2	150,530,529 (GRCm39)	missense	probably benign
R5471:Vsx1	UTSW	2	150,524,986 (GRCm39)	missense	probably benign	0.06
R5956:Vsx1	UTSW	2	150,530,457 (GRCm39)	missense	possibly damaging	0.61
R6499:Vsx1	UTSW	2	150,530,441 (GRCm39)	missense	probably benign	0.13
Z1177:Vsx1	UTSW	2	150,530,662 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TATGTGTGGTTGTCACTGCCCACC -3'
(R):5'- CGAAGACAGTGTCTGGAATGTGAGC -3'

Sequencing Primer
(F):5'- TGCCCACCAGCAGTAGAC -3'
(R):5'- tcccttcccccattaccc -3'

Posted On

2014-05-23