Incidental Mutation 'IGL01664:Otol1'
| ID |
103262 |
| 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 # |
IGL01664
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
69914946-69936041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69935130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 374
(D374G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053013]
|
| AlphaFold |
Q4ZJM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053013
AA Change: D374G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: D374G
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Col19a1 |
T |
A |
1: 24,600,416 (GRCm39) |
Y42F |
unknown |
Het |
| Ddx31 |
T |
C |
2: 28,765,847 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
G |
A |
6: 91,210,439 (GRCm39) |
D128N |
probably damaging |
Het |
| Fgf7 |
G |
T |
2: 125,877,907 (GRCm39) |
M91I |
probably benign |
Het |
| Gm28539 |
A |
G |
16: 18,655,523 (GRCm39) |
H31R |
possibly damaging |
Het |
| Hivep1 |
T |
G |
13: 42,312,755 (GRCm39) |
V1665G |
probably benign |
Het |
| Ifih1 |
T |
C |
2: 62,442,044 (GRCm39) |
|
probably benign |
Het |
| Il10 |
G |
T |
1: 130,949,214 (GRCm39) |
R125L |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 34,114,531 (GRCm39) |
R574H |
probably damaging |
Het |
| Lmln |
A |
G |
16: 32,901,357 (GRCm39) |
E251G |
probably benign |
Het |
| Or4e5 |
T |
C |
14: 52,728,002 (GRCm39) |
N57D |
probably benign |
Het |
| Or52n2c |
T |
C |
7: 104,574,311 (GRCm39) |
Y220C |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,771,423 (GRCm39) |
L253Q |
probably damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,314 (GRCm39) |
V182A |
probably benign |
Het |
| Polr3e |
T |
C |
7: 120,530,540 (GRCm39) |
|
probably benign |
Het |
| Sectm1a |
A |
T |
11: 120,959,870 (GRCm39) |
S149T |
possibly damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,926,761 (GRCm39) |
|
noncoding transcript |
Het |
| Sox1ot |
A |
G |
8: 12,480,670 (GRCm39) |
|
noncoding transcript |
Het |
| Tnik |
G |
T |
3: 28,692,628 (GRCm39) |
G895C |
probably damaging |
Het |
|
| Other mutations in Otol1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01551:Otol1
|
APN |
3 |
69,935,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-01-21 |
Incidental Mutation