Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02889:Sebox'

363105

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sebox

Ensembl Gene

ENSMUSG00000001103

Gene Name

SEBOX homeobox

Synonyms

Og9x, OG9

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02889

Quality Score

Status

Chromosome

Chromosomal Location

78394328-78395907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78395156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 166 (V166A)

Ref Sequence

ENSEMBL: ENSMUSP00000001130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001130] [ENSMUST00000017488] [ENSMUST00000052566] [ENSMUST00000125670]

AlphaFold

P70368

Predicted Effect

probably benign
Transcript: ENSMUST00000001130
AA Change: V166A

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

SMART Domains

Protein: ENSMUSP00000001130
Gene: ENSMUSG00000001103
AA Change: V166A

Domain	Start	End	E-Value	Type
HOX	18	80	2.05e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000017488

SMART Domains

Protein: ENSMUSP00000017488
Gene: ENSMUSG00000017344

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SO	20	62	2.45e-13	SMART
HX	160	203	7.81e-8	SMART
HX	205	251	2.46e-14	SMART
HX	253	303	9.19e-5	SMART
low complexity region	358	400	N/A	INTRINSIC
HX	426	473	1.59e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052566

SMART Domains

Protein: ENSMUSP00000058599
Gene: ENSMUSG00000051232

Domain	Start	End	E-Value	Type
Pfam:Vma12	78	204	1e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125670

SMART Domains

Protein: ENSMUSP00000129606
Gene: ENSMUSG00000001103

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153628

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146997

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Adult mice homozygous for a targeted disruption of this gene display normal retinal morphology as well as normal electroretinograms under scotopic and photopic conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	C	T	10: 77,149,375 (GRCm39)	V371I	probably benign	Het
Amdhd2	A	G	17: 24,376,761 (GRCm39)	L308P	probably damaging	Het
Antxr2	G	T	5: 98,125,509 (GRCm39)	H249Q	probably benign	Het
Arg1	A	T	10: 24,791,653 (GRCm39)	M276K	probably damaging	Het
Bloc1s6	T	C	2: 122,584,604 (GRCm39)	Y60H	probably damaging	Het
Btnl9	A	T	11: 49,069,604 (GRCm39)	V225E	probably damaging	Het
Col1a1	T	C	11: 94,842,335 (GRCm39)	Y1418H	unknown	Het
Ct45a	C	A	X: 55,592,551 (GRCm39)	K19N	probably damaging	Het
Dhx57	A	T	17: 80,554,581 (GRCm39)	I1162K	possibly damaging	Het
Dmgdh	T	C	13: 93,852,185 (GRCm39)		probably null	Het
Ear10	A	G	14: 44,160,726 (GRCm39)	F34L	probably damaging	Het
Fli1	A	G	9: 32,376,992 (GRCm39)	I92T	probably damaging	Het
Fpgs	G	A	2: 32,575,891 (GRCm39)		probably benign	Het
Glp1r	T	A	17: 31,150,118 (GRCm39)		probably benign	Het
Hectd4	T	A	5: 121,503,116 (GRCm39)	Y4362N	possibly damaging	Het
Ifitm3	C	T	7: 140,589,792 (GRCm39)	R87Q	probably damaging	Het
Ints3	G	T	3: 90,300,143 (GRCm39)	H925N	probably damaging	Het
Itgb4	T	A	11: 115,879,731 (GRCm39)	C628S	probably damaging	Het
Itprid1	A	T	6: 55,878,443 (GRCm39)	D402V	possibly damaging	Het
Kcnh3	A	T	15: 99,124,991 (GRCm39)	E147V	probably null	Het
Krtap19-4	T	C	16: 88,681,944 (GRCm39)	Y4C	unknown	Het
Lrp2	A	T	2: 69,382,794 (GRCm39)	S30R	possibly damaging	Het
Or11g27	A	G	14: 50,770,970 (GRCm39)	I34V	probably benign	Het
Or8g2b	A	G	9: 39,751,533 (GRCm39)	M268V	probably benign	Het
Prima1	A	G	12: 103,163,575 (GRCm39)	V132A	probably benign	Het
Psme1	A	G	14: 55,817,383 (GRCm39)		probably benign	Het
Rab11fip3	C	A	17: 26,286,653 (GRCm39)	R500L	possibly damaging	Het
Rnf40	C	A	7: 127,190,601 (GRCm39)	S255*	probably null	Het
Spata24	C	A	18: 35,789,805 (GRCm39)	R194L	probably benign	Het
Spata31h1	C	T	10: 82,119,654 (GRCm39)	S482N	probably damaging	Het
Tbx4	T	A	11: 85,790,621 (GRCm39)	Y154*	probably null	Het
Trim24	G	A	6: 37,934,696 (GRCm39)	E768K	probably benign	Het
Ttn	A	G	2: 76,562,304 (GRCm39)	V28847A	possibly damaging	Het
Utp6	T	A	11: 79,839,896 (GRCm39)	Q264L	possibly damaging	Het
Vim	A	G	2: 13,585,491 (GRCm39)	R424G	probably damaging	Het
Vmn1r216	A	C	13: 23,283,649 (GRCm39)	T111P	probably damaging	Het
Wnt11	G	A	7: 98,499,566 (GRCm39)	A244T	probably damaging	Het
Zbtb26	A	C	2: 37,326,261 (GRCm39)	N247K	probably benign	Het
Zfp629	T	G	7: 127,209,203 (GRCm39)		probably benign	Het

Other mutations in Sebox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1184:Sebox	UTSW	11	78,394,675 (GRCm39)	missense	probably damaging	1.00
R3853:Sebox	UTSW	11	78,394,975 (GRCm39)	missense	probably benign
R5924:Sebox	UTSW	11	78,395,017 (GRCm39)	splice site	probably null
R6652:Sebox	UTSW	11	78,394,631 (GRCm39)	missense	probably damaging	1.00
R7709:Sebox	UTSW	11	78,394,919 (GRCm39)	missense	probably damaging	0.98
R9147:Sebox	UTSW	11	78,395,222 (GRCm39)	missense	possibly damaging	0.58
R9148:Sebox	UTSW	11	78,395,222 (GRCm39)	missense	possibly damaging	0.58

Posted On

2015-12-18