Incidental Mutation 'RF019:Otol1'
| ID |
603726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otol1
|
| Ensembl Gene |
ENSMUSG00000027788 |
| Gene Name |
otolin 1 |
| Synonyms |
Gm414, LOC229389 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
69914946-69936041 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 69925933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 36
(E36V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053013]
|
| AlphaFold |
Q4ZJM7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053013
AA Change: E36V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: E36V
| 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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
86% (36/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
G |
1: 138,784,429 (GRCm39) |
S43P |
probably benign |
Het |
| 3110021N24Rik |
AGCGCGGCCGGG |
AG |
4: 108,637,827 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
G |
8: 123,623,373 (GRCm39) |
V294A |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,324,611 (GRCm39) |
I181N |
probably damaging |
Het |
| Col6a1 |
T |
C |
10: 76,547,449 (GRCm39) |
M675V |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,662,882 (GRCm39) |
V62A |
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,494,258 (GRCm39) |
T14A |
probably damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,004 (GRCm39) |
T531A |
probably benign |
Het |
| Fscb |
GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
GAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
12: 64,519,370 (GRCm39) |
|
probably benign |
Het |
| Garre1 |
A |
G |
7: 33,939,974 (GRCm39) |
F918L |
probably damaging |
Het |
| Gpr89 |
T |
C |
3: 96,812,509 (GRCm39) |
I11V |
probably benign |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,955,467 (GRCm39) |
V1261A |
probably benign |
Het |
| Itgad |
C |
A |
7: 127,791,380 (GRCm39) |
H751N |
probably benign |
Het |
| Krtap28-10 |
CCACAGCCACAGCCA |
CCACAGCCACAGCCAACACAGCCACAGCCA |
1: 83,019,990 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,625,061 (GRCm39) |
K419E |
not run |
Het |
| Mast4 |
GGTGGTGGTGG |
GGTGGTGGTGGTGGTGG |
13: 102,872,815 (GRCm39) |
|
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,252,289 (GRCm39) |
W534R |
probably damaging |
Het |
| Myo9a |
T |
C |
9: 59,829,055 (GRCm39) |
V2387A |
probably benign |
Het |
| Ncapg |
C |
A |
5: 45,856,198 (GRCm39) |
P949Q |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,885,713 (GRCm39) |
F796S |
probably damaging |
Het |
| Pkhd1l1 |
TT |
TTTTTTTTTAT |
15: 44,421,903 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,203,423 (GRCm39) |
I1095T |
possibly damaging |
Het |
| Reep1 |
C |
CCGCG |
6: 71,684,953 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
GCAGCA |
GCAGCAACAGCA |
19: 26,608,401 (GRCm39) |
|
probably benign |
Het |
| Tcf20 |
T |
C |
15: 82,735,794 (GRCm39) |
I1886V |
probably benign |
Het |
| Txnrd1 |
T |
G |
10: 82,720,934 (GRCm39) |
|
probably null |
Het |
| Unc5b |
A |
G |
10: 60,618,962 (GRCm39) |
V60A |
probably damaging |
Het |
| Vmn1r45 |
A |
T |
6: 89,910,091 (GRCm39) |
V293E |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,468,327 (GRCm39) |
D2853E |
probably benign |
Het |
| Zfp108 |
G |
T |
7: 23,961,032 (GRCm39) |
R541L |
probably benign |
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 |
|
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 |
|
X0062:Otol1
|
UTSW |
3 |
69,934,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCCAGAGATGCATTTATTC -3'
(R):5'- GTTGTGTCCAGAGAGAAGCTC -3'
Sequencing Primer
(F):5'- TTCTTCCCATACAAGGATAGATGG -3'
(R):5'- GCTCTCGAAGGGAAGGAGAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation