Mutagenetix > Incidental Mutation

Incidental Mutation 'R6270:Otx1'

507282

Institutional Source

Beutler Lab

Gene Symbol

Otx1

Ensembl Gene

ENSMUSG00000005917

Gene Name

orthodenticle homeobox 1

Synonyms

jv, A730044F23Rik

MMRRC Submission

044441-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.783) question?

Stock #

R6270 (G1)

Quality Score

207.009

Status

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: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (51/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,242,933 (GRCm39)	E648G	probably benign	Het
Ak7	A	G	12: 105,734,960 (GRCm39)	H642R	probably benign	Het
Akap11	T	C	14: 78,756,239 (GRCm39)	E53G	probably damaging	Het
Ark2n	T	C	18: 77,762,117 (GRCm39)	D65G	probably damaging	Het
Ddr2	T	G	1: 169,816,109 (GRCm39)	T533P	probably benign	Het
Dhx40	A	G	11: 86,690,431 (GRCm39)	S197P	possibly damaging	Het
Dolpp1	C	A	2: 30,282,281 (GRCm39)		probably benign	Het
Eng	A	G	2: 32,563,655 (GRCm39)	D347G	probably benign	Het
Esrra	C	T	19: 6,891,488 (GRCm39)		probably null	Het
Fap	T	C	2: 62,378,132 (GRCm39)	I159V	probably damaging	Het
Fn1	C	T	1: 71,676,434 (GRCm39)	C599Y	probably damaging	Het
Fnbp4	T	C	2: 90,587,807 (GRCm39)	V395A	probably damaging	Het
Foxn3	T	C	12: 99,354,676 (GRCm39)	R163G	probably damaging	Het
Gphn	T	G	12: 78,569,724 (GRCm39)	L306R	probably benign	Het
Gse1	T	C	8: 121,295,902 (GRCm39)		probably benign	Het
Habp2	A	G	19: 56,295,295 (GRCm39)	D62G	possibly damaging	Het
Hdac7	AGGG	AGGGG	15: 97,706,376 (GRCm39)		probably null	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Kit	A	G	5: 75,770,169 (GRCm39)	T194A	probably benign	Het
Krt16	C	A	11: 100,138,029 (GRCm39)	A316S	possibly damaging	Het
Krt7	A	G	15: 101,317,439 (GRCm39)	D244G	probably damaging	Het
Lhfpl3	T	A	5: 23,478,349 (GRCm39)	Y77*	probably null	Het
Lrrc18	A	T	14: 32,731,078 (GRCm39)	M206L	probably benign	Het
Magel2	C	A	7: 62,030,406 (GRCm39)	C1103*	probably null	Het
Mcf2l	T	C	8: 13,068,701 (GRCm39)	V1058A	probably damaging	Het
Nbas	G	A	12: 13,374,294 (GRCm39)	A541T	probably damaging	Het
Nrap	C	T	19: 56,308,630 (GRCm39)	M1485I	probably benign	Het
Nudt18	T	C	14: 70,816,830 (GRCm39)	Y145H	probably benign	Het
Or51b6b	T	C	7: 103,309,620 (GRCm39)	Y279C	possibly damaging	Het
Or51f1d	T	C	7: 102,700,538 (GRCm39)	L11P	probably benign	Het
Or5k8	A	T	16: 58,644,782 (GRCm39)	C97S	probably damaging	Het
Pcdhb12	A	T	18: 37,569,838 (GRCm39)	Q328L	possibly damaging	Het
Pde6c	T	C	19: 38,146,884 (GRCm39)	W431R	probably damaging	Het
Pga5	T	C	19: 10,652,225 (GRCm39)	E139G	probably benign	Het
Pkdrej	G	T	15: 85,705,306 (GRCm39)	S210*	probably null	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Sema3d	A	T	5: 12,498,074 (GRCm39)	M27L	probably benign	Het
Serinc5	T	C	13: 92,825,170 (GRCm39)	S200P	probably damaging	Het
Sf3b3	T	C	8: 111,568,452 (GRCm39)	D174G	probably damaging	Het
Sult1b1	A	T	5: 87,665,413 (GRCm39)		probably null	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tcaf3	T	C	6: 42,570,725 (GRCm39)	I342M	probably benign	Het
Tenm3	G	A	8: 48,820,429 (GRCm39)	T136M	probably damaging	Het
Tet3	T	C	6: 83,352,773 (GRCm39)	T1008A	possibly damaging	Het
Tgif1	T	C	17: 71,151,861 (GRCm39)		probably null	Het
Trav15-2-dv6-2	A	G	14: 53,887,323 (GRCm39)	D81G	probably benign	Het
Trpv5	T	A	6: 41,651,293 (GRCm39)	H251L	possibly damaging	Het
Ttc14	C	A	3: 33,854,537 (GRCm39)	T37K	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,159 (GRCm39)	I662L	probably benign	Het
Vmn2r81	A	G	10: 79,129,649 (GRCm39)	I847V	probably benign	Het
Zfp474	A	G	18: 52,771,436 (GRCm39)	T30A	probably benign	Het
Zswim4	C	T	8: 84,957,580 (GRCm39)	V163M	probably 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
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
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
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'- GCTGGACAGACACAAATGTTC -3'

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

Posted On

2018-03-15