Mutagenetix > Incidental Mutation

Incidental Mutation 'R5200:Otx1'

400712

Institutional Source

Beutler Lab

Gene Symbol

Otx1

Ensembl Gene

ENSMUSG00000005917

Gene Name

orthodenticle homeobox 1

Synonyms

jv, A730044F23Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R5200 (G1)

Quality Score

224

Status

Not validated

Chromosome

Chromosomal Location

21944764-21952897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21947037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 91 (A91S)

Ref Sequence

ENSEMBL: ENSMUSP00000134704 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006071] [ENSMUST00000147486]

AlphaFold

P80205

Predicted Effect

probably damaging
Transcript: ENSMUST00000006071
AA Change: A91S

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

SMART Domains

Protein: ENSMUSP00000006071
Gene: ENSMUSG00000005917
AA Change: A91S

Domain	Start	End	E-Value	Type
HOX	38	100	1.21e-25	SMART
low complexity region	117	125	N/A	INTRINSIC
Pfam:TF_Otx	178	279	2.5e-39	PFAM
internal_repeat_1	310	322	1.39e-7	PROSPERO
low complexity region	324	331	N/A	INTRINSIC
internal_repeat_1	334	346	1.39e-7	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000147486
AA Change: A91S

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

SMART Domains

Protein: ENSMUSP00000134704
Gene: ENSMUSG00000005917
AA Change: A91S

Domain	Start	End	E-Value	Type
HOX	38	100	1.21e-25	SMART
low complexity region	117	125	N/A	INTRINSIC
low complexity region	133	147	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172395

Meta Mutation Damage Score

0.4867

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the bicoid subfamily of the paired homeobox transcription factor family. The encoded protein is critical to the maintenance and regionalization of the forebrain and midbrain during development. It may also have important functions in sense organ development, pituitary function, and in the regulation of blood cell production. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inner ear abnormalities and circling/head-shaking behavior are seen in mild mutants; null mutants also have spontaneous seizures and defects in dorsal telencephalic cortex, mesencephalon, cerebellum and eye; and show delayed growth and sexual maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap9	T	C	5: 4,010,734 (GRCm39)	V497A	probably benign	Het
Alx3	T	C	3: 107,507,980 (GRCm39)	F163S	possibly damaging	Het
Ankmy1	T	C	1: 92,798,014 (GRCm39)	R997G	probably benign	Het
Arfgef2	T	C	2: 166,702,604 (GRCm39)	S848P	probably benign	Het
Atp11b	A	G	3: 35,891,156 (GRCm39)	I810V	probably benign	Het
C1ql4	T	G	15: 98,982,718 (GRCm39)	I212L	probably benign	Het
Cep63	T	C	9: 102,475,387 (GRCm39)	Y443C	probably benign	Het
Cfap45	C	T	1: 172,372,696 (GRCm39)	Q464*	probably null	Het
Clcn3	T	C	8: 61,376,039 (GRCm39)	K618R	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Dnaaf4	T	C	9: 72,879,713 (GRCm39)	S418P	probably damaging	Het
H2-M10.2	T	G	17: 36,595,641 (GRCm39)	R216S	probably benign	Het
Hook1	A	G	4: 95,881,367 (GRCm39)	D113G	probably damaging	Het
Ift122	A	G	6: 115,897,340 (GRCm39)	E914G	probably damaging	Het
Insr	A	G	8: 3,248,059 (GRCm39)		probably null	Het
Itpr2	A	T	6: 146,045,605 (GRCm39)		probably null	Het
Myo6	C	T	9: 80,183,656 (GRCm39)	Q684*	probably null	Het
Nrde2	T	A	12: 100,096,756 (GRCm39)	I1015F	possibly damaging	Het
Or12e9	T	A	2: 87,202,446 (GRCm39)	V190E	probably damaging	Het
Or2d4	G	A	7: 106,544,187 (GRCm39)	T7I	possibly damaging	Het
Pappa	A	T	4: 65,074,076 (GRCm39)	N210I	probably damaging	Het
Pax4	G	A	6: 28,445,138 (GRCm39)	P179L	probably damaging	Het
Pcx	G	A	19: 4,668,532 (GRCm39)	D656N	probably damaging	Het
Pms1	T	A	1: 53,245,916 (GRCm39)	H541L	probably benign	Het
Pten	C	T	19: 32,777,291 (GRCm39)	P95L	probably damaging	Het
Rsrc2	G	A	5: 123,877,562 (GRCm39)	R140*	probably null	Het
Shc3	T	C	13: 51,670,601 (GRCm39)	M49V	probably damaging	Het
Snap91	C	G	9: 86,697,497 (GRCm39)	K288N	probably damaging	Het
Spag17	C	T	3: 99,970,787 (GRCm39)	Q1324*	probably null	Het
Tasor	A	G	14: 27,151,183 (GRCm39)	E53G	probably benign	Het
Tfr2	A	G	5: 137,569,242 (GRCm39)		probably benign	Het
Tgfbrap1	A	T	1: 43,114,803 (GRCm39)	I99K	probably damaging	Het
Tmem38a	T	A	8: 73,333,878 (GRCm39)	V119E	probably damaging	Het
Tmtc4	T	G	14: 123,182,969 (GRCm39)	D243A	probably benign	Het
Tnc	A	T	4: 63,889,515 (GRCm39)	S1755T	probably damaging	Het
Trim67	T	C	8: 125,551,589 (GRCm39)	S590P	probably damaging	Het
Ttn	T	A	2: 76,590,287 (GRCm39)	T12814S	probably damaging	Het
Uspl1	T	A	5: 149,150,923 (GRCm39)	S708T	probably benign	Het
Vmn2r69	A	T	7: 85,055,717 (GRCm39)	F807Y	probably damaging	Het
Vmn2r97	C	T	17: 19,148,615 (GRCm39)	P170L	probably damaging	Het
Zfp612	C	T	8: 110,816,532 (GRCm39)	Q580*	probably null	Het

Other mutations in Otx1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00574:Otx1	APN	11	21,946,794 (GRCm39)	unclassified	probably benign
Embarrassed	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R1946:Otx1	UTSW	11	21,948,482 (GRCm39)	missense	probably damaging	1.00
R2291:Otx1	UTSW	11	21,946,634 (GRCm39)	unclassified	probably benign
R2870:Otx1	UTSW	11	21,948,681 (GRCm39)	intron	probably benign
R4164:Otx1	UTSW	11	21,946,638 (GRCm39)	unclassified	probably benign
R4845:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R4925:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R4934:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R4993:Otx1	UTSW	11	21,948,532 (GRCm39)	splice site	probably null
R5061:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5062:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5063:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5068:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5069:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5070:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5097:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5169:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5170:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5171:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5172:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5198:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5199:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5201:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5202:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5203:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5204:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5205:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5256:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5267:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5360:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5361:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5363:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5372:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5375:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5380:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5381:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5382:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5383:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5415:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5416:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5534:Otx1	UTSW	11	21,946,296 (GRCm39)	unclassified	probably benign
R5592:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5594:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5725:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5727:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5735:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5736:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5841:Otx1	UTSW	11	21,948,594 (GRCm39)	intron	probably benign
R5940:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R5941:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6080:Otx1	UTSW	11	21,949,406 (GRCm39)	missense	probably damaging	1.00
R6081:Otx1	UTSW	11	21,949,406 (GRCm39)	missense	probably damaging	1.00
R6093:Otx1	UTSW	11	21,949,406 (GRCm39)	missense	probably damaging	1.00
R6126:Otx1	UTSW	11	21,946,457 (GRCm39)	unclassified	probably benign
R6131:Otx1	UTSW	11	21,949,406 (GRCm39)	missense	probably damaging	1.00
R6132:Otx1	UTSW	11	21,949,406 (GRCm39)	missense	probably damaging	1.00
R6134:Otx1	UTSW	11	21,949,406 (GRCm39)	missense	probably damaging	1.00
R6187:Otx1	UTSW	11	21,949,406 (GRCm39)	missense	probably damaging	1.00
R6220:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6269:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6270:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6271:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6272:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6396:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6619:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6624:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6680:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6681:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6718:Otx1	UTSW	11	21,946,412 (GRCm39)	unclassified	probably benign
R6831:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6834:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
R6985:Otx1	UTSW	11	21,946,615 (GRCm39)	nonsense	probably null
R7631:Otx1	UTSW	11	21,949,458 (GRCm39)	nonsense	probably null
R8100:Otx1	UTSW	11	21,949,392 (GRCm39)	missense	probably benign	0.16
R9125:Otx1	UTSW	11	21,949,458 (GRCm39)	nonsense	probably null
R9541:Otx1	UTSW	11	21,947,052 (GRCm39)	missense	probably damaging	1.00
X0054:Otx1	UTSW	11	21,946,331 (GRCm39)	unclassified	probably benign
Z1187:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00
Z1192:Otx1	UTSW	11	21,947,037 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCAGATGGACGAAGCAGTAG -3'
(R):5'- CTTACTAGGGGTTTGCGCAGAAG -3'

Sequencing Primer
(F):5'- TCAGAGAGGACGCTGCTG -3'
(R):5'- TTTGCGCAGAAGGATGGG -3'

Posted On

2016-07-06