Incidental Mutation 'R8100:Otx1'
| ID |
630467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otx1
|
| Ensembl Gene |
ENSMUSG00000005917 |
| Gene Name |
orthodenticle homeobox 1 |
| Synonyms |
jv, A730044F23Rik |
| MMRRC Submission |
067532-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.800)
|
| Stock # |
R8100 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
21944764-21952897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21949392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 29
(V29L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006071]
[ENSMUST00000147486]
|
| AlphaFold |
P80205 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006071
AA Change: V29L
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000006071
Gene: ENSMUSG00000005917
AA Change: V29L
| 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 benign
Transcript: ENSMUST00000147486
AA Change: V29L
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000134704
Gene: ENSMUSG00000005917
AA Change: V29L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
G |
A |
14: 56,009,722 (GRCm39) |
Q777* |
probably null |
Het |
| Art1 |
T |
C |
7: 101,756,405 (GRCm39) |
S199P |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,838,808 (GRCm39) |
M110K |
probably damaging |
Het |
| Cdk13 |
C |
T |
13: 17,978,101 (GRCm39) |
R379Q |
unknown |
Het |
| Cdk7 |
T |
C |
13: 100,842,925 (GRCm39) |
I272V |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,829,148 (GRCm39) |
D192G |
probably damaging |
Het |
| Chrna6 |
C |
T |
8: 27,903,844 (GRCm39) |
|
probably benign |
Het |
| Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
| Ckmt1 |
T |
A |
2: 121,191,258 (GRCm39) |
D223E |
probably benign |
Het |
| Col6a5 |
C |
T |
9: 105,755,839 (GRCm39) |
R2195H |
probably damaging |
Het |
| D430041D05Rik |
C |
T |
2: 104,087,287 (GRCm39) |
R563H |
probably benign |
Het |
| Defa29 |
A |
T |
8: 21,816,990 (GRCm39) |
M1K |
probably null |
Het |
| Dnah11 |
A |
G |
12: 117,930,368 (GRCm39) |
S3326P |
probably damaging |
Het |
| Dsg3 |
A |
G |
18: 20,662,028 (GRCm39) |
D431G |
probably benign |
Het |
| Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,169,357 (GRCm39) |
F699I |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 7,990,685 (GRCm39) |
S1004P |
unknown |
Het |
| Gpr15 |
T |
A |
16: 58,538,076 (GRCm39) |
T338S |
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,483,171 (GRCm39) |
Y1002C |
unknown |
Het |
| Hk2 |
C |
T |
6: 82,707,859 (GRCm39) |
M703I |
probably benign |
Het |
| Ifi213 |
A |
C |
1: 173,422,748 (GRCm39) |
L39R |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 26,917,113 (GRCm39) |
A2271S |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 102,137,899 (GRCm39) |
Q867L |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,492,512 (GRCm39) |
S1427T |
possibly damaging |
Het |
| Lzts1 |
A |
G |
8: 69,593,397 (GRCm39) |
V70A |
probably damaging |
Het |
| Mocs3 |
A |
G |
2: 168,073,257 (GRCm39) |
T235A |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,408,016 (GRCm39) |
R3168H |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,240,802 (GRCm39) |
D260G |
possibly damaging |
Het |
| Nfam1 |
T |
C |
15: 82,900,730 (GRCm39) |
D44G |
probably damaging |
Het |
| Or4a47 |
G |
A |
2: 89,666,029 (GRCm39) |
Q87* |
probably null |
Het |
| Osbpl10 |
G |
A |
9: 114,996,322 (GRCm39) |
R128H |
probably benign |
Het |
| Pogk |
A |
T |
1: 166,229,511 (GRCm39) |
D113E |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 149,978,472 (GRCm39) |
F195L |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,648,881 (GRCm39) |
E925V |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,326,470 (GRCm39) |
F2714L |
possibly damaging |
Het |
| Rbm20 |
T |
G |
19: 53,839,744 (GRCm39) |
I911S |
possibly damaging |
Het |
| Rwdd2b |
A |
G |
16: 87,233,509 (GRCm39) |
V197A |
possibly damaging |
Het |
| Sel1l2 |
C |
G |
2: 140,117,329 (GRCm39) |
A181P |
probably damaging |
Het |
| Sf1 |
A |
G |
19: 6,422,368 (GRCm39) |
E234G |
possibly damaging |
Het |
| Skint2 |
A |
C |
4: 112,483,197 (GRCm39) |
T201P |
probably damaging |
Het |
| Sra1 |
C |
T |
18: 36,809,948 (GRCm39) |
R199H |
probably damaging |
Het |
| Svs5 |
A |
G |
2: 164,079,712 (GRCm39) |
M65T |
probably benign |
Het |
| Tgif1 |
C |
A |
17: 71,153,544 (GRCm39) |
|
probably benign |
Het |
| Tmem184c |
A |
G |
8: 78,331,411 (GRCm39) |
W113R |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,681,432 (GRCm39) |
R282G |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,540,155 (GRCm39) |
Y244* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,221,861 (GRCm39) |
Y2866C |
probably damaging |
Het |
| Trim7 |
A |
C |
11: 48,740,346 (GRCm39) |
I148L |
probably damaging |
Het |
| Triml1 |
T |
A |
8: 43,591,717 (GRCm39) |
M214L |
probably benign |
Het |
| Usp30 |
T |
G |
5: 114,249,245 (GRCm39) |
V183G |
probably damaging |
Het |
| Vmn1r175 |
G |
A |
7: 23,508,012 (GRCm39) |
S205F |
probably damaging |
Het |
| Zbtb32 |
CTTG |
CTTGTTG |
7: 30,290,946 (GRCm39) |
|
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,960,602 (GRCm39) |
C398S |
probably damaging |
Het |
| Zfp592 |
T |
G |
7: 80,673,940 (GRCm39) |
D301E |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
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 |
|
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 |
|
|
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'- AGCTCAAAAGTTGTAGGCTGC -3'
(R):5'- GAAGGTTTCCATGTGTCTGC -3'
Sequencing Primer
(F):5'- AGGCTGCACTTTCTACAGAG -3'
(R):5'- TGCTGTCTCCCTAGGCCAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation