Mutagenetix > Incidental Mutation

Incidental Mutation 'R6652:Sebox'

528104

Institutional Source

Beutler Lab

Gene Symbol

Sebox

Ensembl Gene

ENSMUSG00000001103

Gene Name

SEBOX homeobox

Synonyms

Og9x, OG9

MMRRC Submission

044773-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78394328-78395907 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78394631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 32 (E32V)

Ref Sequence

ENSEMBL: ENSMUSP00000001130 (fasta)

Gene Model

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

AlphaFold

P70368

Predicted Effect

probably damaging
Transcript: ENSMUST00000001130
AA Change: E32V

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

SMART Domains

Protein: ENSMUSP00000001130
Gene: ENSMUSG00000001103
AA Change: E32V

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

unknown
Transcript: ENSMUST00000125670
AA Change: S35C

SMART Domains

Protein: ENSMUSP00000129606
Gene: ENSMUSG00000001103
AA Change: S35C

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: ENSMUST00000146997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153628

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

100% (42/42)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,164 (GRCm39)	D605G	probably damaging	Het
Cfh	A	T	1: 140,071,806 (GRCm39)	I294N	probably benign	Het
Clk3	A	G	9: 57,669,078 (GRCm39)	S49P	probably damaging	Het
Cmya5	A	G	13: 93,229,403 (GRCm39)	V1895A	probably benign	Het
Cmya5	T	C	13: 93,229,547 (GRCm39)	D1847G	probably damaging	Het
Cwf19l1	T	C	19: 44,103,138 (GRCm39)	D359G	probably benign	Het
Dag1	A	T	9: 108,086,289 (GRCm39)	M284K	probably damaging	Het
Ergic2	T	C	6: 148,091,079 (GRCm39)	Y211C	probably damaging	Het
Espnl	A	C	1: 91,272,421 (GRCm39)	I594L	probably benign	Het
Fam193b	A	G	13: 55,690,603 (GRCm39)	S226P	probably damaging	Het
Fat2	T	A	11: 55,143,088 (GRCm39)	I4254L	probably benign	Het
Fhdc1	T	C	3: 84,371,631 (GRCm39)	Y108C	probably damaging	Het
Fut9	G	C	4: 25,620,619 (GRCm39)	T65S	probably benign	Het
Gm9507	A	T	10: 77,647,493 (GRCm39)		probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Grap2	A	T	15: 80,532,723 (GRCm39)	N297Y	probably damaging	Het
Igfn1	A	G	1: 135,891,609 (GRCm39)	F2302S	probably damaging	Het
Ighv1-81	T	A	12: 115,884,051 (GRCm39)	I67F	probably damaging	Het
Kidins220	T	A	12: 25,060,059 (GRCm39)		probably null	Het
Kti12	T	A	4: 108,705,730 (GRCm39)	S215T	probably benign	Het
Mc1r	G	A	8: 124,134,370 (GRCm39)	G41D	probably damaging	Het
Mov10l1	A	G	15: 88,878,105 (GRCm39)	Y129C	probably damaging	Het
Mthfsd	A	T	8: 121,825,560 (GRCm39)	L337Q	probably damaging	Het
Musk	C	T	4: 58,368,977 (GRCm39)	A629V	probably damaging	Het
Nadsyn1	A	T	7: 143,364,955 (GRCm39)	M250K	probably benign	Het
Ncapd2	G	A	6: 125,163,233 (GRCm39)	H92Y	probably benign	Het
Or4e5	C	T	14: 52,728,250 (GRCm39)	R57Q	probably benign	Het
Or6y1	G	A	1: 174,276,627 (GRCm39)	C146Y	probably damaging	Het
Plec	A	T	15: 76,063,974 (GRCm39)	V2100E	probably damaging	Het
Prss37	C	A	6: 40,496,090 (GRCm39)		probably benign	Het
Senp7	C	A	16: 55,944,257 (GRCm39)	Q194K	probably benign	Het
Sfxn3	G	A	19: 45,038,354 (GRCm39)		probably null	Het
Spart	G	A	3: 55,032,248 (GRCm39)	E361K	probably benign	Het
Stn1	T	C	19: 47,496,017 (GRCm39)	T334A	probably benign	Het
Stoml1	A	G	9: 58,164,017 (GRCm39)	D112G	probably damaging	Het
Thap2	T	A	10: 115,212,441 (GRCm39)	D28V	probably damaging	Het
Ubap2	A	T	4: 41,196,743 (GRCm39)	N872K	possibly damaging	Het
Vezt	A	G	10: 93,806,141 (GRCm39)	F757L	probably damaging	Het
Vmn1r204	T	C	13: 22,740,573 (GRCm39)	I68T	probably damaging	Het
Wnt10a	A	G	1: 74,842,613 (GRCm39)		probably null	Het
Yipf7	A	G	5: 69,698,504 (GRCm39)	M1T	probably null	Het
Zdhhc19	T	C	16: 32,316,047 (GRCm39)	F48S	probably damaging	Het
Zfp317	C	T	9: 19,558,335 (GRCm39)	T183I	probably damaging	Het

Other mutations in Sebox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02889:Sebox	APN	11	78,395,156 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AAACCCTAAGGCCTGAGTCTG -3'
(R):5'- AGCCTTGTGGGACAGAAAAC -3'

Sequencing Primer
(F):5'- ATGTCAGCTCCATGGCCAGTC -3'
(R):5'- CCCAAGAGCAGAATTCCCAGAGAG -3'

Posted On

2018-07-24