Incidental Mutation 'IGL01792:Or10d4c'
| ID |
155254 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10d4c
|
| Ensembl Gene |
ENSMUSG00000059106 |
| Gene Name |
olfactory receptor family 10 subfamily D member 4C |
| Synonyms |
GA_x6K02T2PVTD-33343617-33344561, MOR224-5, Olfr961 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.180)
|
| Stock # |
IGL01792
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
39558024-39558968 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39558955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 311
(N311I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076548]
[ENSMUST00000219295]
|
| AlphaFold |
Q9EQ84 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076548
AA Change: N311I
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000075863
Gene: ENSMUSG00000059106
AA Change: N311I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
304 |
1.1e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
4.5e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219295
AA Change: N311I
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
G |
T |
17: 48,452,680 (GRCm39) |
F86L |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,537,642 (GRCm39) |
T690A |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,187,219 (GRCm39) |
N424S |
probably benign |
Het |
| Adarb2 |
T |
C |
13: 8,620,185 (GRCm39) |
F224L |
probably damaging |
Het |
| Clcn3 |
T |
C |
8: 61,382,356 (GRCm39) |
T438A |
probably damaging |
Het |
| Cyp2c55 |
A |
G |
19: 39,030,631 (GRCm39) |
I488V |
probably benign |
Het |
| Dennd1a |
A |
G |
2: 38,016,592 (GRCm39) |
F84S |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,187,152 (GRCm39) |
R1475G |
probably damaging |
Het |
| Ift172 |
G |
A |
5: 31,434,215 (GRCm39) |
R508W |
probably damaging |
Het |
| Khdrbs2 |
C |
T |
1: 32,696,548 (GRCm39) |
R326C |
probably damaging |
Het |
| Krt78 |
T |
G |
15: 101,855,085 (GRCm39) |
M909L |
probably benign |
Het |
| Ncapg2 |
T |
A |
12: 116,389,438 (GRCm39) |
F353I |
probably damaging |
Het |
| Pigb |
A |
T |
9: 72,925,268 (GRCm39) |
H396Q |
probably damaging |
Het |
| Rev3l |
C |
T |
10: 39,699,336 (GRCm39) |
P1278S |
probably benign |
Het |
| Setd1b |
T |
A |
5: 123,295,209 (GRCm39) |
V955D |
unknown |
Het |
| Slc22a16 |
T |
A |
10: 40,449,928 (GRCm39) |
H121Q |
possibly damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,195,893 (GRCm39) |
C49S |
probably damaging |
Het |
| Smad1 |
T |
C |
8: 80,098,752 (GRCm39) |
K21E |
probably damaging |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Spic |
A |
G |
10: 88,515,807 (GRCm39) |
I5T |
possibly damaging |
Het |
| Srpk1 |
G |
A |
17: 28,818,441 (GRCm39) |
|
probably benign |
Het |
| Tubgcp6 |
T |
C |
15: 88,985,484 (GRCm39) |
D1559G |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,250,218 (GRCm39) |
F992L |
probably damaging |
Het |
|
| Other mutations in Or10d4c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Or10d4c
|
APN |
9 |
39,558,636 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0344:Or10d4c
|
UTSW |
9 |
39,558,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Or10d4c
|
UTSW |
9 |
39,558,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0525:Or10d4c
|
UTSW |
9 |
39,558,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0531:Or10d4c
|
UTSW |
9 |
39,558,168 (GRCm39) |
missense |
probably benign |
|
|
R1188:Or10d4c
|
UTSW |
9 |
39,558,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Or10d4c
|
UTSW |
9 |
39,558,459 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2970:Or10d4c
|
UTSW |
9 |
39,558,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3883:Or10d4c
|
UTSW |
9 |
39,558,420 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4423:Or10d4c
|
UTSW |
9 |
39,558,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5129:Or10d4c
|
UTSW |
9 |
39,558,790 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6148:Or10d4c
|
UTSW |
9 |
39,558,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Or10d4c
|
UTSW |
9 |
39,557,957 (GRCm39) |
start gained |
probably benign |
|
|
R6778:Or10d4c
|
UTSW |
9 |
39,558,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Or10d4c
|
UTSW |
9 |
39,558,387 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7545:Or10d4c
|
UTSW |
9 |
39,558,403 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8547:Or10d4c
|
UTSW |
9 |
39,558,798 (GRCm39) |
nonsense |
probably null |
|
|
R8956:Or10d4c
|
UTSW |
9 |
39,558,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Or10d4c
|
UTSW |
9 |
39,558,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9098:Or10d4c
|
UTSW |
9 |
39,558,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9734:Or10d4c
|
UTSW |
9 |
39,558,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Or10d4c
|
UTSW |
9 |
39,558,559 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2014-02-04 |
Incidental Mutation