Mutagenetix > Incidental Mutation

Incidental Mutation 'R5736:Otx1'

451710

Institutional Source

Beutler Lab

Gene Symbol

Otx1

Ensembl Gene

ENSMUSG00000005917

Gene Name

orthodenticle homeobox 1

Synonyms

jv, A730044F23Rik

MMRRC Submission

043194-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.800) question?

Stock #

R5736 (G1)

Quality Score

225

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: 99.0%
3x: 98.2%
10x: 96.5%
20x: 93.8%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095N17Rik	G	A	1: 75,197,211 (GRCm39)		probably benign	Het
Akt1	G	A	12: 112,623,284 (GRCm39)	R367C	probably benign	Het
Arl8a	T	A	1: 135,082,458 (GRCm39)	S150T	probably benign	Het
B020004C17Rik	A	T	14: 57,254,823 (GRCm39)	T216S	possibly damaging	Het
Casz1	G	A	4: 149,013,867 (GRCm39)	V144I	probably benign	Het
Cd274	G	T	19: 29,359,940 (GRCm39)	L248F	probably benign	Het
Crisp4	T	C	1: 18,185,939 (GRCm39)	T266A	probably benign	Het
Dlx6	A	T	6: 6,863,660 (GRCm39)	H94L	probably damaging	Het
Exoc1	A	G	5: 76,685,615 (GRCm39)	N109S	possibly damaging	Het
Grik2	T	C	10: 49,280,506 (GRCm39)	E128G	probably damaging	Het
Hs3st4	G	A	7: 123,996,662 (GRCm39)	E443K	probably damaging	Het
Ihh	T	C	1: 74,985,286 (GRCm39)	T400A	probably benign	Het
Lamb1	T	A	12: 31,352,664 (GRCm39)	C806*	probably null	Het
Lrrn1	T	C	6: 107,544,345 (GRCm39)	S48P	probably damaging	Het
Lsm11	T	C	11: 45,835,594 (GRCm39)	N49S	possibly damaging	Het
Map3k11	C	T	19: 5,746,739 (GRCm39)	A507V	probably damaging	Het
Mill2	A	T	7: 18,592,174 (GRCm39)	Q265L	probably benign	Het
Odad2	T	C	18: 7,268,416 (GRCm39)	T368A	probably benign	Het
Or4s2b	T	C	2: 88,508,985 (GRCm39)	M255T	probably benign	Het
Peg10	T	A	6: 4,754,423 (GRCm39)	L68Q	probably benign	Het
Phka2	ACC	AC	X: 159,342,862 (GRCm39)		probably null	Het
Prkag2	A	T	5: 25,083,720 (GRCm39)	Y88N	probably damaging	Het
Prmt5	A	C	14: 54,752,297 (GRCm39)	D166E	probably null	Het
Robo4	A	T	9: 37,316,093 (GRCm39)	T366S	possibly damaging	Het
Samd3	T	C	10: 26,146,070 (GRCm39)	I365T	probably damaging	Het
Sdf2l1	A	T	16: 16,949,571 (GRCm39)	C92S	probably damaging	Het
Serpinb6e	A	G	13: 34,016,753 (GRCm39)	F327L	probably damaging	Het
Slc17a6	G	A	7: 51,294,841 (GRCm39)	V183I	possibly damaging	Het
Slc6a11	T	C	6: 114,139,123 (GRCm39)	S244P	probably damaging	Het
Slc6a5	A	G	7: 49,609,102 (GRCm39)	D769G	probably benign	Het
Slc7a14	A	T	3: 31,278,059 (GRCm39)	D515E	probably benign	Het
Slco2a1	A	T	9: 102,945,029 (GRCm39)	S135C	probably benign	Het
Spidr	A	T	16: 15,715,162 (GRCm39)	D801E	probably damaging	Het
Spta1	T	C	1: 174,041,821 (GRCm39)		probably null	Het
Tmem71	C	T	15: 66,404,496 (GRCm39)	V264I	probably benign	Het
Zfp563	G	T	17: 33,323,960 (GRCm39)	R185L	possibly damaging	Het
Zfp941	G	A	7: 140,392,973 (GRCm39)	P129S	probably benign	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
R5200: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
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'- TACTAGGGGTTTGCGCAGAAG -3'

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

Posted On

2017-01-03