Incidental Mutation 'IGL03164:Otop1'
ID |
411541 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Otop1
|
Ensembl Gene |
ENSMUSG00000051596 |
Gene Name |
otopetrin 1 |
Synonyms |
tlt, A530025J20Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
IGL03164
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
38434748-38461560 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 38445306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 155
(G155*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063136]
[ENSMUST00000114099]
|
AlphaFold |
Q80VM9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000063136
AA Change: G152*
|
SMART Domains |
Protein: ENSMUSP00000061805 Gene: ENSMUSG00000051596 AA Change: G152*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
60 |
82 |
N/A |
INTRINSIC |
transmembrane domain
|
87 |
106 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
127 |
239 |
1.6e-13 |
PFAM |
Pfam:Otopetrin
|
240 |
456 |
1.9e-16 |
PFAM |
low complexity region
|
462 |
471 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
518 |
583 |
3e-10 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114099
AA Change: G155*
|
SMART Domains |
Protein: ENSMUSP00000109734 Gene: ENSMUSG00000051596 AA Change: G155*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
transmembrane domain
|
63 |
85 |
N/A |
INTRINSIC |
transmembrane domain
|
90 |
109 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
130 |
457 |
3.1e-40 |
PFAM |
low complexity region
|
466 |
475 |
N/A |
INTRINSIC |
Pfam:Otopetrin
|
513 |
587 |
2.9e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185357
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187863
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutant mice display vestibular abnormalities associated with absent otoconia. [provided by MGI curators]
|
Allele List at MGI |
All alleles(6) : Targeted(3) Spontaneous(1) Chemically induced(2)
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
G |
3: 59,947,070 (GRCm39) |
D256G |
probably damaging |
Het |
Abcb11 |
A |
T |
2: 69,122,343 (GRCm39) |
L380* |
probably null |
Het |
Aco1 |
A |
T |
4: 40,167,116 (GRCm39) |
N110I |
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,866,918 (GRCm39) |
D126G |
probably damaging |
Het |
Anks1b |
T |
G |
10: 89,878,554 (GRCm39) |
V121G |
probably damaging |
Het |
Ap1s3 |
A |
G |
1: 79,602,887 (GRCm39) |
L40P |
probably damaging |
Het |
Cd19 |
C |
A |
7: 126,012,681 (GRCm39) |
M237I |
possibly damaging |
Het |
Chil6 |
T |
C |
3: 106,301,714 (GRCm39) |
T129A |
probably benign |
Het |
Chtf18 |
A |
G |
17: 25,945,816 (GRCm39) |
M94T |
probably benign |
Het |
Clstn2 |
G |
T |
9: 97,681,462 (GRCm39) |
D59E |
possibly damaging |
Het |
Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
Ctnnbl1 |
A |
C |
2: 157,659,681 (GRCm39) |
M253L |
probably benign |
Het |
Erg |
T |
C |
16: 95,210,730 (GRCm39) |
T41A |
possibly damaging |
Het |
Gjd3 |
T |
A |
11: 102,691,547 (GRCm39) |
N152I |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,738,490 (GRCm39) |
L2084P |
probably damaging |
Het |
Isoc1 |
C |
T |
18: 58,806,404 (GRCm39) |
S238L |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,415,980 (GRCm39) |
D1633E |
probably damaging |
Het |
Krt76 |
T |
C |
15: 101,795,886 (GRCm39) |
D428G |
possibly damaging |
Het |
Lrp2 |
G |
T |
2: 69,295,043 (GRCm39) |
T3425K |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,306,659 (GRCm39) |
|
probably benign |
Het |
Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
Nlrp5 |
T |
A |
7: 23,117,798 (GRCm39) |
Y507* |
probably null |
Het |
Nps |
T |
C |
7: 134,874,039 (GRCm39) |
S53P |
probably damaging |
Het |
Oprk1 |
A |
T |
1: 5,669,087 (GRCm39) |
I178F |
probably damaging |
Het |
Or2a12 |
C |
T |
6: 42,905,064 (GRCm39) |
R300* |
probably null |
Het |
Or5p1 |
T |
C |
7: 107,916,901 (GRCm39) |
S267P |
probably damaging |
Het |
Osgin2 |
G |
T |
4: 16,001,938 (GRCm39) |
S204R |
probably benign |
Het |
Peli3 |
A |
G |
19: 4,986,144 (GRCm39) |
|
probably null |
Het |
Pex7 |
T |
A |
10: 19,770,461 (GRCm39) |
|
probably benign |
Het |
Pfkm |
T |
C |
15: 98,029,843 (GRCm39) |
L749P |
probably damaging |
Het |
Pwp1 |
T |
A |
10: 85,714,367 (GRCm39) |
F103Y |
probably benign |
Het |
Rhod |
T |
C |
19: 4,482,829 (GRCm39) |
K63E |
possibly damaging |
Het |
Rtl1 |
T |
C |
12: 109,559,367 (GRCm39) |
E824G |
probably damaging |
Het |
Sema4d |
A |
G |
13: 51,862,958 (GRCm39) |
F467L |
possibly damaging |
Het |
Septin10 |
T |
C |
10: 59,016,921 (GRCm39) |
E201G |
probably damaging |
Het |
Slc37a3 |
G |
A |
6: 39,322,237 (GRCm39) |
T389I |
probably benign |
Het |
Slco2b1 |
C |
T |
7: 99,334,743 (GRCm39) |
A243T |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,235,911 (GRCm39) |
T187A |
probably benign |
Het |
Supt20 |
T |
A |
3: 54,620,609 (GRCm39) |
D389E |
probably benign |
Het |
Tchh |
A |
G |
3: 93,352,699 (GRCm39) |
D713G |
unknown |
Het |
Trappc10 |
T |
C |
10: 78,056,076 (GRCm39) |
R209G |
probably damaging |
Het |
Unc119 |
A |
G |
11: 78,239,002 (GRCm39) |
D176G |
probably damaging |
Het |
Usb1 |
G |
A |
8: 96,060,112 (GRCm39) |
R21Q |
probably damaging |
Het |
|
Other mutations in Otop1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01555:Otop1
|
APN |
5 |
38,460,188 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01793:Otop1
|
APN |
5 |
38,457,215 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02071:Otop1
|
APN |
5 |
38,445,327 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02111:Otop1
|
APN |
5 |
38,435,045 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02660:Otop1
|
APN |
5 |
38,445,349 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02672:Otop1
|
APN |
5 |
38,435,170 (GRCm39) |
critical splice donor site |
probably null |
|
BB008:Otop1
|
UTSW |
5 |
38,445,364 (GRCm39) |
missense |
probably damaging |
1.00 |
BB018:Otop1
|
UTSW |
5 |
38,445,364 (GRCm39) |
missense |
probably damaging |
1.00 |
P0015:Otop1
|
UTSW |
5 |
38,451,903 (GRCm39) |
splice site |
probably benign |
|
R0092:Otop1
|
UTSW |
5 |
38,457,174 (GRCm39) |
missense |
probably damaging |
0.97 |
R0639:Otop1
|
UTSW |
5 |
38,445,292 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0670:Otop1
|
UTSW |
5 |
38,445,292 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0673:Otop1
|
UTSW |
5 |
38,445,292 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2092:Otop1
|
UTSW |
5 |
38,457,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R2105:Otop1
|
UTSW |
5 |
38,457,801 (GRCm39) |
missense |
probably benign |
|
R2152:Otop1
|
UTSW |
5 |
38,460,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R3971:Otop1
|
UTSW |
5 |
38,457,533 (GRCm39) |
missense |
probably benign |
0.04 |
R3972:Otop1
|
UTSW |
5 |
38,457,533 (GRCm39) |
missense |
probably benign |
0.04 |
R4575:Otop1
|
UTSW |
5 |
38,457,065 (GRCm39) |
missense |
probably damaging |
1.00 |
R4660:Otop1
|
UTSW |
5 |
38,457,368 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4998:Otop1
|
UTSW |
5 |
38,451,892 (GRCm39) |
critical splice donor site |
probably null |
|
R5412:Otop1
|
UTSW |
5 |
38,455,328 (GRCm39) |
missense |
probably benign |
0.25 |
R5461:Otop1
|
UTSW |
5 |
38,457,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R5607:Otop1
|
UTSW |
5 |
38,451,848 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5625:Otop1
|
UTSW |
5 |
38,460,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Otop1
|
UTSW |
5 |
38,457,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R5792:Otop1
|
UTSW |
5 |
38,455,260 (GRCm39) |
missense |
probably benign |
0.04 |
R5878:Otop1
|
UTSW |
5 |
38,435,166 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6163:Otop1
|
UTSW |
5 |
38,445,234 (GRCm39) |
splice site |
probably null |
|
R7338:Otop1
|
UTSW |
5 |
38,457,547 (GRCm39) |
nonsense |
probably null |
|
R7931:Otop1
|
UTSW |
5 |
38,445,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R7994:Otop1
|
UTSW |
5 |
38,457,195 (GRCm39) |
missense |
probably benign |
0.02 |
R8224:Otop1
|
UTSW |
5 |
38,457,846 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8733:Otop1
|
UTSW |
5 |
38,457,796 (GRCm39) |
nonsense |
probably null |
|
R8733:Otop1
|
UTSW |
5 |
38,457,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Otop1
|
UTSW |
5 |
38,457,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R9192:Otop1
|
UTSW |
5 |
38,445,274 (GRCm39) |
missense |
probably benign |
0.25 |
R9278:Otop1
|
UTSW |
5 |
38,460,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R9290:Otop1
|
UTSW |
5 |
38,455,302 (GRCm39) |
missense |
probably benign |
0.06 |
X0064:Otop1
|
UTSW |
5 |
38,457,095 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Otop1
|
UTSW |
5 |
38,435,114 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |