Incidental Mutation 'IGL01551:Otol1'
| ID |
93261 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Otol1
|
| Ensembl Gene |
ENSMUSG00000027788 |
| Gene Name |
otolin 1 |
| Synonyms |
Gm414, LOC229389 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
69914946-69936041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69935057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 350
(F350L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053013]
|
| AlphaFold |
Q4ZJM7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053013
AA Change: F350L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: F350L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Collagen
|
116 |
175 |
8.8e-11 |
PFAM |
|
internal_repeat_2
|
183 |
229 |
1.02e-7 |
PROSPERO |
|
Pfam:Collagen
|
232 |
302 |
2.4e-9 |
PFAM |
|
low complexity region
|
328 |
340 |
N/A |
INTRINSIC |
|
C1Q
|
341 |
475 |
9.83e-51 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
G |
A |
10: 78,924,147 (GRCm39) |
S103L |
possibly damaging |
Het |
| Acvr2a |
G |
A |
2: 48,787,071 (GRCm39) |
A389T |
probably damaging |
Het |
| Adamts9 |
A |
G |
6: 92,784,001 (GRCm39) |
S1037P |
probably damaging |
Het |
| Adcyap1 |
A |
G |
17: 93,511,446 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,404,183 (GRCm39) |
N569S |
probably damaging |
Het |
| Bin1 |
G |
T |
18: 32,510,511 (GRCm39) |
V18L |
probably benign |
Het |
| Ccdc158 |
A |
G |
5: 92,814,620 (GRCm39) |
Y69H |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,611 (GRCm39) |
R134G |
possibly damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,441,860 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
T |
C |
10: 58,134,691 (GRCm39) |
|
probably benign |
Het |
| Gm10961 |
A |
G |
3: 107,540,281 (GRCm39) |
|
probably benign |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,216 (GRCm39) |
D369G |
probably benign |
Het |
| Ifi202b |
T |
A |
1: 173,798,928 (GRCm39) |
K373N |
probably benign |
Het |
| Khk |
C |
A |
5: 31,082,189 (GRCm39) |
H67N |
probably benign |
Het |
| Kif7 |
T |
A |
7: 79,360,314 (GRCm39) |
|
probably null |
Het |
| Mbd1 |
C |
T |
18: 74,402,614 (GRCm39) |
|
probably benign |
Het |
| Mtor |
A |
G |
4: 148,556,494 (GRCm39) |
H968R |
probably damaging |
Het |
| Nadk |
A |
G |
4: 155,673,157 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,771,618 (GRCm39) |
T250A |
probably benign |
Het |
| Or2f1b |
A |
G |
6: 42,739,046 (GRCm39) |
D20G |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,629 (GRCm39) |
H136L |
probably benign |
Het |
| Pramel22 |
T |
C |
4: 143,383,042 (GRCm39) |
N59S |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,352,342 (GRCm39) |
|
probably benign |
Het |
| Rps6kc1 |
A |
T |
1: 190,505,837 (GRCm39) |
S1042T |
possibly damaging |
Het |
| Rtn1 |
C |
T |
12: 72,263,709 (GRCm39) |
V741I |
possibly damaging |
Het |
| Tor2a |
T |
A |
2: 32,650,595 (GRCm39) |
|
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,688 (GRCm39) |
I63V |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,703 (GRCm39) |
I89F |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,343,849 (GRCm39) |
D2030G |
probably benign |
Het |
| Zfp326 |
T |
C |
5: 106,036,451 (GRCm39) |
S121P |
probably damaging |
Het |
|
| Other mutations in Otol1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01664:Otol1
|
APN |
3 |
69,935,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02205:Otol1
|
APN |
3 |
69,925,929 (GRCm39) |
missense |
probably benign |
|
|
IGL02445:Otol1
|
APN |
3 |
69,935,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02674:Otol1
|
APN |
3 |
69,926,077 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03376:Otol1
|
APN |
3 |
69,934,845 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0094:Otol1
|
UTSW |
3 |
69,926,016 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0492:Otol1
|
UTSW |
3 |
69,935,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Otol1
|
UTSW |
3 |
69,934,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1932:Otol1
|
UTSW |
3 |
69,935,437 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2049:Otol1
|
UTSW |
3 |
69,926,169 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2321:Otol1
|
UTSW |
3 |
69,925,858 (GRCm39) |
nonsense |
probably null |
|
|
R4042:Otol1
|
UTSW |
3 |
69,935,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4043:Otol1
|
UTSW |
3 |
69,935,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4044:Otol1
|
UTSW |
3 |
69,935,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4092:Otol1
|
UTSW |
3 |
69,935,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4433:Otol1
|
UTSW |
3 |
69,925,881 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4993:Otol1
|
UTSW |
3 |
69,926,211 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6921:Otol1
|
UTSW |
3 |
69,935,433 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6983:Otol1
|
UTSW |
3 |
69,935,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Otol1
|
UTSW |
3 |
69,926,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7619:Otol1
|
UTSW |
3 |
69,935,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8368:Otol1
|
UTSW |
3 |
69,935,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8851:Otol1
|
UTSW |
3 |
69,935,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF019:Otol1
|
UTSW |
3 |
69,925,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0062:Otol1
|
UTSW |
3 |
69,934,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation