Incidental Mutation 'IGL01746:Oc90'
ID |
153034 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Oc90
|
Ensembl Gene |
ENSMUSG00000015001 |
Gene Name |
otoconin 90 |
Synonyms |
PLA2L, Ocn-95, Pla2ll |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
IGL01746
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
65747902-65784246 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 65761250 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060522]
[ENSMUST00000079776]
|
AlphaFold |
Q9Z0L3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060522
|
SMART Domains |
Protein: ENSMUSP00000062865 Gene: ENSMUSG00000015001
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
PA2c
|
74 |
190 |
1.75e-15 |
SMART |
PA2c
|
314 |
429 |
3.5e-15 |
SMART |
low complexity region
|
446 |
458 |
N/A |
INTRINSIC |
low complexity region
|
473 |
484 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079776
|
SMART Domains |
Protein: ENSMUSP00000078709 Gene: ENSMUSG00000015001
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
PA2c
|
74 |
190 |
1.75e-15 |
SMART |
PA2c
|
282 |
397 |
3.5e-15 |
SMART |
low complexity region
|
414 |
426 |
N/A |
INTRINSIC |
low complexity region
|
441 |
452 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135442
|
SMART Domains |
Protein: ENSMUSP00000114254 Gene: ENSMUSG00000015001
Domain | Start | End | E-Value | Type |
internal_repeat_1
|
2 |
67 |
2.77e-7 |
PROSPERO |
PA2c
|
159 |
274 |
3.5e-15 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147776
|
SMART Domains |
Protein: ENSMUSP00000118937 Gene: ENSMUSG00000015001
Domain | Start | End | E-Value | Type |
PA2c
|
122 |
220 |
8.1e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156996
|
SMART Domains |
Protein: ENSMUSP00000121227 Gene: ENSMUSG00000015001
Domain | Start | End | E-Value | Type |
PA2c
|
58 |
174 |
1.75e-15 |
SMART |
PA2c
|
283 |
398 |
3.5e-15 |
SMART |
low complexity region
|
415 |
427 |
N/A |
INTRINSIC |
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit reduced, enlarged, and loose otoliths, and thin cupula, saccule, utricle and tectorial membranes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,982,276 (GRCm39) |
M1187V |
possibly damaging |
Het |
Ctsm |
T |
C |
13: 61,687,630 (GRCm39) |
E76G |
probably benign |
Het |
Ctsm |
T |
C |
13: 61,686,717 (GRCm39) |
|
probably benign |
Het |
Egfl8 |
T |
C |
17: 34,833,890 (GRCm39) |
T63A |
probably damaging |
Het |
Fat4 |
T |
A |
3: 39,045,880 (GRCm39) |
C3966* |
probably null |
Het |
Fsd2 |
T |
C |
7: 81,202,755 (GRCm39) |
T275A |
probably benign |
Het |
Fyb2 |
A |
T |
4: 104,802,404 (GRCm39) |
H102L |
probably benign |
Het |
Galnt9 |
T |
C |
5: 110,736,188 (GRCm39) |
I168T |
probably damaging |
Het |
Hc |
A |
G |
2: 34,947,338 (GRCm39) |
Y59H |
probably damaging |
Het |
Khnyn |
T |
C |
14: 56,124,439 (GRCm39) |
V231A |
probably benign |
Het |
Larp4b |
T |
A |
13: 9,208,160 (GRCm39) |
V378E |
probably damaging |
Het |
Lbx1 |
A |
T |
19: 45,222,214 (GRCm39) |
S270T |
possibly damaging |
Het |
Mcm6 |
G |
A |
1: 128,281,261 (GRCm39) |
R101* |
probably null |
Het |
Mcph1 |
T |
C |
8: 18,721,143 (GRCm39) |
L657P |
probably damaging |
Het |
Ndst2 |
G |
T |
14: 20,779,482 (GRCm39) |
P253T |
probably benign |
Het |
Nek4 |
G |
A |
14: 30,699,541 (GRCm39) |
|
probably null |
Het |
Nsd1 |
T |
A |
13: 55,424,328 (GRCm39) |
|
probably null |
Het |
Plcl2 |
T |
A |
17: 50,914,724 (GRCm39) |
S578T |
probably benign |
Het |
Ranbp3l |
T |
A |
15: 9,063,167 (GRCm39) |
C325* |
probably null |
Het |
Rps19bp1 |
T |
C |
15: 80,145,198 (GRCm39) |
Y140C |
probably damaging |
Het |
Sec62 |
T |
A |
3: 30,868,395 (GRCm39) |
I208K |
probably benign |
Het |
Slc25a48 |
T |
A |
13: 56,618,166 (GRCm39) |
F268I |
probably damaging |
Het |
Slc35e3 |
T |
C |
10: 117,580,807 (GRCm39) |
T166A |
possibly damaging |
Het |
Tmem253 |
G |
A |
14: 52,254,614 (GRCm39) |
W23* |
probably null |
Het |
Tmem97 |
T |
C |
11: 78,433,586 (GRCm39) |
Y103C |
probably damaging |
Het |
Traf6 |
A |
G |
2: 101,527,237 (GRCm39) |
E329G |
possibly damaging |
Het |
Ttll12 |
A |
G |
15: 83,462,877 (GRCm39) |
F530L |
probably damaging |
Het |
Ugt3a1 |
C |
T |
15: 9,361,754 (GRCm39) |
P177S |
probably damaging |
Het |
Veph1 |
T |
C |
3: 66,065,508 (GRCm39) |
T520A |
probably benign |
Het |
Vmn2r98 |
T |
A |
17: 19,286,713 (GRCm39) |
Y404N |
probably damaging |
Het |
|
Other mutations in Oc90 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01343:Oc90
|
APN |
15 |
65,761,440 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02101:Oc90
|
APN |
15 |
65,769,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02175:Oc90
|
APN |
15 |
65,755,674 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02691:Oc90
|
APN |
15 |
65,754,410 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02947:Oc90
|
APN |
15 |
65,759,983 (GRCm39) |
missense |
probably benign |
0.16 |
R0010:Oc90
|
UTSW |
15 |
65,748,397 (GRCm39) |
missense |
probably damaging |
1.00 |
R0325:Oc90
|
UTSW |
15 |
65,769,514 (GRCm39) |
critical splice donor site |
probably null |
|
R1466:Oc90
|
UTSW |
15 |
65,769,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Oc90
|
UTSW |
15 |
65,769,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R1496:Oc90
|
UTSW |
15 |
65,748,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Oc90
|
UTSW |
15 |
65,769,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R1837:Oc90
|
UTSW |
15 |
65,761,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R3552:Oc90
|
UTSW |
15 |
65,750,650 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4018:Oc90
|
UTSW |
15 |
65,759,457 (GRCm39) |
missense |
probably benign |
0.00 |
R4515:Oc90
|
UTSW |
15 |
65,764,242 (GRCm39) |
missense |
probably damaging |
0.96 |
R4700:Oc90
|
UTSW |
15 |
65,753,354 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4828:Oc90
|
UTSW |
15 |
65,753,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R5135:Oc90
|
UTSW |
15 |
65,755,679 (GRCm39) |
missense |
probably benign |
0.00 |
R5320:Oc90
|
UTSW |
15 |
65,754,457 (GRCm39) |
missense |
probably benign |
0.06 |
R5727:Oc90
|
UTSW |
15 |
65,753,388 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5837:Oc90
|
UTSW |
15 |
65,748,295 (GRCm39) |
missense |
probably benign |
0.03 |
R6086:Oc90
|
UTSW |
15 |
65,761,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R6807:Oc90
|
UTSW |
15 |
65,761,463 (GRCm39) |
missense |
probably damaging |
1.00 |
R8499:Oc90
|
UTSW |
15 |
65,753,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R9213:Oc90
|
UTSW |
15 |
65,761,557 (GRCm39) |
nonsense |
probably null |
|
R9364:Oc90
|
UTSW |
15 |
65,761,437 (GRCm39) |
missense |
probably benign |
0.09 |
R9554:Oc90
|
UTSW |
15 |
65,761,437 (GRCm39) |
missense |
probably benign |
0.09 |
R9631:Oc90
|
UTSW |
15 |
65,769,629 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Oc90
|
UTSW |
15 |
65,748,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |