Incidental Mutation 'IGL03387:Or10ak11'
| ID |
420886 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10ak11
|
| Ensembl Gene |
ENSMUSG00000110947 |
| Gene Name |
olfactory receptor family 10 subfamily AK member 11 |
| Synonyms |
Olfr1333, MOR259-6, MOR259-11, GA_x6K02T2QD9B-18703033-18703986 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL03387
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
118686682-118687635 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 118687238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 132
(Y132C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076019]
[ENSMUST00000106361]
[ENSMUST00000214477]
|
| AlphaFold |
Q7TQV7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076019
AA Change: Y133C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075398
Gene: ENSMUSG00000110947
AA Change: Y133C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
42 |
291 |
4.1e-31 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
2.9e-46 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106361
AA Change: Y134C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101968
Gene: ENSMUSG00000073768
AA Change: Y134C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
309 |
6.1e-56 |
PFAM |
|
Pfam:7tm_1
|
43 |
292 |
3.9e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214477
AA Change: Y132C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214477
AA Change: Y132C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy2 |
A |
C |
13: 68,878,486 (GRCm39) |
I384S |
probably damaging |
Het |
| Atxn7 |
T |
C |
14: 14,087,273 (GRCm38) |
|
probably benign |
Het |
| Blm |
A |
T |
7: 80,143,895 (GRCm39) |
V848D |
probably damaging |
Het |
| Cul1 |
G |
T |
6: 47,478,143 (GRCm39) |
L175F |
probably damaging |
Het |
| Cyp4a29 |
A |
G |
4: 115,108,368 (GRCm39) |
H364R |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,465,483 (GRCm39) |
D1380G |
probably damaging |
Het |
| Det1 |
A |
T |
7: 78,493,372 (GRCm39) |
C211S |
possibly damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,559,200 (GRCm39) |
Y822H |
probably damaging |
Het |
| F5 |
A |
C |
1: 164,020,801 (GRCm39) |
Q1092P |
probably damaging |
Het |
| Fam117b |
A |
C |
1: 59,992,119 (GRCm39) |
Y256S |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,728,796 (GRCm39) |
|
probably null |
Het |
| Galnt7 |
A |
G |
8: 57,979,212 (GRCm39) |
I637T |
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,317,671 (GRCm39) |
K120N |
unknown |
Het |
| Hes2 |
A |
G |
4: 152,244,269 (GRCm39) |
K18R |
probably damaging |
Het |
| Icam5 |
A |
T |
9: 20,945,097 (GRCm39) |
Q220L |
probably benign |
Het |
| Kdm8 |
G |
A |
7: 125,054,278 (GRCm39) |
A170T |
probably benign |
Het |
| Krt40 |
G |
A |
11: 99,430,711 (GRCm39) |
A321V |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,828,979 (GRCm39) |
V45D |
probably damaging |
Het |
| Mbip |
A |
G |
12: 56,382,597 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,354,195 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,051 (GRCm39) |
S300P |
probably benign |
Het |
| Nanog |
T |
C |
6: 122,688,731 (GRCm39) |
L104P |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,457 (GRCm39) |
H104Q |
probably damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,007 (GRCm39) |
Y307F |
probably benign |
Het |
| Or52n2c |
A |
T |
7: 104,574,580 (GRCm39) |
N130K |
probably benign |
Het |
| Oxgr1 |
C |
A |
14: 120,260,199 (GRCm39) |
E3* |
probably null |
Het |
| Pam16 |
A |
T |
16: 4,434,671 (GRCm39) |
|
probably benign |
Het |
| Plcb1 |
A |
T |
2: 134,655,606 (GRCm39) |
|
probably benign |
Het |
| Slc25a32 |
A |
T |
15: 38,969,359 (GRCm39) |
V58E |
probably benign |
Het |
| Slc2a12 |
G |
T |
10: 22,541,134 (GRCm39) |
V330F |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,591,881 (GRCm39) |
E1247G |
possibly damaging |
Het |
| Supt5 |
A |
T |
7: 28,019,508 (GRCm39) |
C519S |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,221,922 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,180 (GRCm39) |
W294R |
possibly damaging |
Het |
| Tex21 |
A |
T |
12: 76,245,694 (GRCm39) |
M534K |
probably damaging |
Het |
| Tmem132c |
T |
C |
5: 127,640,784 (GRCm39) |
I985T |
probably benign |
Het |
| Tmem87b |
T |
C |
2: 128,665,019 (GRCm39) |
V61A |
probably benign |
Het |
| Trhr2 |
G |
A |
8: 123,085,220 (GRCm39) |
|
probably benign |
Het |
| Ttc28 |
A |
G |
5: 111,381,208 (GRCm39) |
D1209G |
probably benign |
Het |
| Uchl5 |
A |
G |
1: 143,677,940 (GRCm39) |
E148G |
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,970,199 (GRCm39) |
I203V |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,931,148 (GRCm39) |
I799V |
possibly damaging |
Het |
|
| Other mutations in Or10ak11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Or10ak11
|
APN |
4 |
118,686,989 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL03023:Or10ak11
|
APN |
4 |
118,687,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0326:Or10ak11
|
UTSW |
4 |
118,687,022 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0532:Or10ak11
|
UTSW |
4 |
118,686,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Or10ak11
|
UTSW |
4 |
118,687,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1906:Or10ak11
|
UTSW |
4 |
118,687,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Or10ak11
|
UTSW |
4 |
118,687,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2260:Or10ak11
|
UTSW |
4 |
118,687,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Or10ak11
|
UTSW |
4 |
118,686,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Or10ak11
|
UTSW |
4 |
118,686,863 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5444:Or10ak11
|
UTSW |
4 |
118,687,308 (GRCm39) |
missense |
probably benign |
|
|
R5817:Or10ak11
|
UTSW |
4 |
118,687,296 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5973:Or10ak11
|
UTSW |
4 |
118,687,413 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5987:Or10ak11
|
UTSW |
4 |
118,687,478 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6031:Or10ak11
|
UTSW |
4 |
118,687,588 (GRCm39) |
splice site |
probably null |
|
|
R6031:Or10ak11
|
UTSW |
4 |
118,687,588 (GRCm39) |
splice site |
probably null |
|
|
R7255:Or10ak11
|
UTSW |
4 |
118,687,149 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7483:Or10ak11
|
UTSW |
4 |
118,687,517 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8214:Or10ak11
|
UTSW |
4 |
118,687,288 (GRCm39) |
missense |
probably benign |
|
|
R8479:Or10ak11
|
UTSW |
4 |
118,687,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Or10ak11
|
UTSW |
4 |
118,686,821 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9661:Or10ak11
|
UTSW |
4 |
118,687,526 (GRCm39) |
missense |
probably benign |
0.45 |
|
Z1176:Or10ak11
|
UTSW |
4 |
118,687,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation