Incidental Mutation 'IGL01113:Or6f1'
| ID |
51577 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or6f1
|
| Ensembl Gene |
ENSMUSG00000054498 |
| Gene Name |
olfactory receptor family 6 subfamily F member 1 |
| Synonyms |
Olfr308, GA_x6K02T2NHDJ-9786435-9787361, MOR104-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.120)
|
| Stock # |
IGL01113
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
85970232-85971158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 85970361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 266
(D266E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044256]
[ENSMUST00000214977]
|
| AlphaFold |
Q8VFP2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044256
AA Change: D266E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000049454
Gene: ENSMUSG00000054498
AA Change: D266E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.3e-53 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214977
AA Change: D266E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215841
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544L04Rik |
A |
G |
7: 134,998,871 (GRCm39) |
|
noncoding transcript |
Het |
| Adam34l |
T |
C |
8: 44,079,189 (GRCm39) |
H345R |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,147 (GRCm39) |
F3431L |
probably benign |
Het |
| Adk |
A |
G |
14: 21,142,461 (GRCm39) |
N21S |
probably damaging |
Het |
| Cacna2d3 |
A |
G |
14: 29,022,688 (GRCm39) |
|
probably benign |
Het |
| Camk2d |
C |
A |
3: 126,574,061 (GRCm39) |
A156E |
probably damaging |
Het |
| Ccdc171 |
G |
T |
4: 83,580,047 (GRCm39) |
W598L |
probably damaging |
Het |
| Cep85 |
C |
T |
4: 133,876,072 (GRCm39) |
V445I |
possibly damaging |
Het |
| Cftr |
A |
G |
6: 18,270,252 (GRCm39) |
Y814C |
probably damaging |
Het |
| Dctn1 |
T |
C |
6: 83,156,879 (GRCm39) |
S9P |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 50,045,818 (GRCm39) |
K2409R |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,317 (GRCm39) |
I135N |
probably damaging |
Het |
| Eif3d |
G |
A |
15: 77,847,515 (GRCm39) |
T241M |
probably damaging |
Het |
| Etv1 |
T |
C |
12: 38,831,791 (GRCm39) |
|
probably benign |
Het |
| Gdpd3 |
C |
A |
7: 126,366,997 (GRCm39) |
S182R |
probably benign |
Het |
| Gm12888 |
C |
A |
4: 121,175,521 (GRCm39) |
C87F |
probably damaging |
Het |
| Gml |
C |
A |
15: 74,685,576 (GRCm39) |
M136I |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,298,548 (GRCm39) |
T137A |
probably benign |
Het |
| Igkv6-25 |
C |
T |
6: 70,192,772 (GRCm39) |
P60S |
possibly damaging |
Het |
| Mak |
A |
T |
13: 41,195,619 (GRCm39) |
W396R |
probably damaging |
Het |
| Mast4 |
C |
A |
13: 102,910,744 (GRCm39) |
C441F |
probably damaging |
Het |
| Medag |
T |
C |
5: 149,353,372 (GRCm39) |
I189T |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,093,006 (GRCm39) |
T71A |
probably benign |
Het |
| Nin |
G |
T |
12: 70,078,553 (GRCm39) |
L1678M |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,115,749 (GRCm39) |
D1081G |
probably damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,631 (GRCm39) |
D191V |
probably damaging |
Het |
| Ppp1r10 |
T |
A |
17: 36,240,451 (GRCm39) |
N580K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,987,367 (GRCm39) |
|
probably benign |
Het |
| Serpinb3a |
G |
A |
1: 106,978,789 (GRCm39) |
Q57* |
probably null |
Het |
| Thumpd3 |
T |
C |
6: 113,037,021 (GRCm39) |
S307P |
probably benign |
Het |
| Upf1 |
A |
C |
8: 70,790,934 (GRCm39) |
D577E |
probably benign |
Het |
| Vmn2r99 |
T |
C |
17: 19,614,518 (GRCm39) |
V746A |
probably benign |
Het |
| Wscd2 |
T |
C |
5: 113,708,800 (GRCm39) |
V268A |
probably damaging |
Het |
|
| Other mutations in Or6f1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03141:Or6f1
|
APN |
7 |
85,970,909 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4519001:Or6f1
|
UTSW |
7 |
85,970,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0206:Or6f1
|
UTSW |
7 |
85,970,854 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0206:Or6f1
|
UTSW |
7 |
85,970,854 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0401:Or6f1
|
UTSW |
7 |
85,970,500 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2132:Or6f1
|
UTSW |
7 |
85,970,687 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3983:Or6f1
|
UTSW |
7 |
85,970,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4596:Or6f1
|
UTSW |
7 |
85,970,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5532:Or6f1
|
UTSW |
7 |
85,970,879 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7326:Or6f1
|
UTSW |
7 |
85,970,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7480:Or6f1
|
UTSW |
7 |
85,970,888 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8746:Or6f1
|
UTSW |
7 |
85,970,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8811:Or6f1
|
UTSW |
7 |
85,970,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8971:Or6f1
|
UTSW |
7 |
85,970,369 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9497:Or6f1
|
UTSW |
7 |
85,970,989 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9666:Or6f1
|
UTSW |
7 |
85,970,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation