Incidental Mutation 'R2321:Otol1'
| ID |
245627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otol1
|
| Ensembl Gene |
ENSMUSG00000027788 |
| Gene Name |
otolin 1 |
| Synonyms |
Gm414, LOC229389 |
| MMRRC Submission |
040313-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
69914946-69936041 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 69925858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 11
(L11*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053013]
|
| AlphaFold |
Q4ZJM7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053013
AA Change: L11*
|
| SMART Domains |
Protein: ENSMUSP00000057607
Gene: ENSMUSG00000027788
AA Change: L11*
| 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 |
|
| Meta Mutation Damage Score |
0.9668 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abcf2 |
A |
T |
5: 24,772,251 (GRCm39) |
Y492* |
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,106,132 (GRCm39) |
V994A |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,231,733 (GRCm39) |
|
probably benign |
Het |
| Bhlha15 |
T |
C |
5: 144,128,014 (GRCm39) |
L42P |
probably damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,134 (GRCm39) |
A43S |
probably benign |
Het |
| Cpq |
A |
G |
15: 33,594,291 (GRCm39) |
H434R |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,822 (GRCm39) |
E994G |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,715,672 (GRCm39) |
L263S |
probably benign |
Het |
| Dnajc12 |
G |
T |
10: 63,242,990 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
T |
C |
15: 58,054,689 (GRCm39) |
I215V |
possibly damaging |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,746 (GRCm39) |
D7G |
unknown |
Het |
| Men1 |
A |
G |
19: 6,389,868 (GRCm39) |
D466G |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,933,436 (GRCm39) |
F624I |
possibly damaging |
Het |
| Ncam1 |
A |
C |
9: 49,456,132 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,107 (GRCm39) |
N268S |
probably benign |
Het |
| Plekhg4 |
T |
C |
8: 106,104,172 (GRCm39) |
S447P |
probably benign |
Het |
| Pnma8b |
G |
T |
7: 16,679,490 (GRCm39) |
R158L |
unknown |
Het |
| Ppp1r2 |
A |
T |
16: 31,084,121 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
G |
A |
12: 11,507,058 (GRCm39) |
G327R |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,390,863 (GRCm39) |
T208A |
unknown |
Het |
| Reln |
T |
C |
5: 22,120,018 (GRCm39) |
Y2878C |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,641,142 (GRCm39) |
F181I |
probably damaging |
Het |
| Senp6 |
A |
C |
9: 80,031,022 (GRCm39) |
I575L |
possibly damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,995,592 (GRCm39) |
D330G |
probably damaging |
Het |
| Slamf9 |
G |
T |
1: 172,304,980 (GRCm39) |
C198F |
probably damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,024,694 (GRCm39) |
V261D |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,590,543 (GRCm39) |
V370A |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,899,332 (GRCm39) |
M7T |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,192,100 (GRCm39) |
N778S |
possibly damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,046,506 (GRCm39) |
Y582N |
probably damaging |
Het |
| Tmem131l |
T |
A |
3: 83,843,330 (GRCm39) |
H508L |
probably damaging |
Het |
| Tmem71 |
T |
G |
15: 66,423,849 (GRCm39) |
D139A |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,324,229 (GRCm39) |
R418G |
possibly damaging |
Het |
| Wdr64 |
A |
C |
1: 175,622,653 (GRCm39) |
K810T |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,356,056 (GRCm39) |
Y427* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGCCCCATGGTGACTCAC -3'
(R):5'- TGGACTCAGCCATTGCCAAG -3'
Sequencing Primer
(F):5'- TACACTTACATAGAAAACAGACCAGC -3'
(R):5'- CAGGGGAGCCGGTGGTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation