Mutagenetix > Incidental Mutation

Incidental Mutation 'R5170:Otx1'

397513

Institutional Source

Beutler Lab

Gene Symbol

Otx1

Ensembl Gene

ENSMUSG00000005917

Gene Name

orthodenticle homeobox 1

Synonyms

jv, A730044F23Rik

MMRRC Submission

042750-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R5170 (G1)

Quality Score

222

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	A	G	5: 35,745,969 (GRCm39)	I51V	probably benign	Het
Agbl2	A	G	2: 90,633,541 (GRCm39)	K559R	probably benign	Het
Arhgap30	A	G	1: 171,235,618 (GRCm39)	D664G	probably benign	Het
BC034090	A	G	1: 155,089,396 (GRCm39)	V798A	probably damaging	Het
Bdp1	A	T	13: 100,167,302 (GRCm39)	C2237*	probably null	Het
C3	C	T	17: 57,530,938 (GRCm39)	V388M	probably damaging	Het
Ccdc170	G	A	10: 4,464,200 (GRCm39)	E60K	probably damaging	Het
Cdh8	G	A	8: 100,006,182 (GRCm39)	T135M	probably damaging	Het
Cep131	G	T	11: 119,961,435 (GRCm39)	A572E	probably damaging	Het
Clec16a	A	G	16: 10,559,655 (GRCm39)	Y976C	probably benign	Het
Cplx3	G	A	9: 57,522,902 (GRCm39)	R153*	probably null	Het
Defa41	A	T	8: 21,691,696 (GRCm39)	D26V	probably damaging	Het
Dmpk	C	G	7: 18,821,944 (GRCm39)	L301V	probably benign	Het
Eno3	A	G	11: 70,553,040 (GRCm39)	I393V	probably benign	Het
Fbxo47	A	G	11: 97,748,520 (GRCm39)	V305A	probably benign	Het
Fry	G	A	5: 150,353,319 (GRCm39)	V1779M	probably benign	Het
Gtse1	T	C	15: 85,748,465 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,126,396 (GRCm39)	L328Q	probably damaging	Het
Ifi207	T	C	1: 173,558,064 (GRCm39)	T225A	unknown	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Lamc3	A	T	2: 31,777,356 (GRCm39)	M1L	probably benign	Het
Myo16	A	G	8: 10,619,745 (GRCm39)	D1432G	probably benign	Het
Nwd2	A	T	5: 63,963,380 (GRCm39)	N988I	probably damaging	Het
Parp14	T	C	16: 35,677,649 (GRCm39)	E773G	probably benign	Het
Psen1	T	A	12: 83,761,636 (GRCm39)	M146K	probably damaging	Het
Ptx4	G	A	17: 25,342,152 (GRCm39)	R209Q	probably benign	Het
Slc13a2	T	C	11: 78,291,634 (GRCm39)	T340A	probably damaging	Het
St8sia1	T	C	6: 142,909,434 (GRCm39)	K21E	probably damaging	Het
Stxbp1	T	C	2: 32,684,686 (GRCm39)	D581G	probably benign	Het
Sumo2	G	A	11: 115,425,486 (GRCm39)		probably benign	Het
Supt5	G	A	7: 28,015,508 (GRCm39)	P910S	probably benign	Het
Tbc1d30	T	C	10: 121,142,743 (GRCm39)	Q158R	possibly damaging	Het
Tenm2	T	A	11: 35,915,633 (GRCm39)	H1968L	probably damaging	Het
Trmt1	T	C	8: 85,421,861 (GRCm39)	Y220H	probably damaging	Het
Trp73	C	T	4: 154,189,295 (GRCm39)	E60K	possibly damaging	Het
Ttn	A	G	2: 76,617,413 (GRCm39)	Y8026H	probably damaging	Het
Zar1l	A	G	5: 150,441,050 (GRCm39)		probably null	Het
Zfp740	T	C	15: 102,117,640 (GRCm39)	Y117H	probably damaging	Het
Zfp941	G	A	7: 140,392,870 (GRCm39)		probably benign	Het
Zp1	C	A	19: 10,897,918 (GRCm39)	V8F	possibly damaging	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
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
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'- CTTACTAGGGGTTTGCGCAG -3'

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

Posted On

2016-07-06