Incidental Mutation 'IGL02702:Olfm5'
ID |
304178 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Olfm5
|
Ensembl Gene |
ENSMUSG00000044265 |
Gene Name |
olfactomedin 5 |
Synonyms |
E030002O03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.069)
|
Stock # |
IGL02702
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
103802220-103814023 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103803564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 300
(Y300H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052174
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051137]
[ENSMUST00000059121]
[ENSMUST00000154555]
|
AlphaFold |
Q8BU90 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051137
AA Change: Y300H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000052174 Gene: ENSMUSG00000044265 AA Change: Y300H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
coiled coil region
|
47 |
85 |
N/A |
INTRINSIC |
coiled coil region
|
157 |
198 |
N/A |
INTRINSIC |
OLF
|
211 |
468 |
3.13e-70 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000059121
|
SMART Domains |
Protein: ENSMUSP00000056365 Gene: ENSMUSG00000051437
Domain | Start | End | E-Value | Type |
UBQ
|
31 |
101 |
5.13e-16 |
SMART |
Blast:STI1
|
199 |
237 |
8e-11 |
BLAST |
low complexity region
|
339 |
350 |
N/A |
INTRINSIC |
low complexity region
|
402 |
419 |
N/A |
INTRINSIC |
PDB:2DNA|A
|
561 |
610 |
3e-26 |
PDB |
Blast:UBA
|
568 |
604 |
1e-10 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154555
AA Change: Y225H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117893 Gene: ENSMUSG00000044265 AA Change: Y225H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
coiled coil region
|
47 |
123 |
N/A |
INTRINSIC |
OLF
|
136 |
304 |
3.65e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
C |
T |
6: 88,815,120 (GRCm39) |
V337I |
probably benign |
Het |
Adam11 |
G |
A |
11: 102,667,864 (GRCm39) |
V750I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,576,831 (GRCm39) |
V129A |
probably benign |
Het |
Cacna1d |
T |
A |
14: 29,845,490 (GRCm39) |
K560* |
probably null |
Het |
Cntn1 |
A |
G |
15: 92,189,482 (GRCm39) |
|
probably benign |
Het |
Cpne2 |
T |
C |
8: 95,296,651 (GRCm39) |
V530A |
probably benign |
Het |
Fbxo21 |
T |
C |
5: 118,138,575 (GRCm39) |
L507P |
probably damaging |
Het |
Fndc4 |
T |
C |
5: 31,451,079 (GRCm39) |
K204R |
probably damaging |
Het |
Gnrhr |
G |
T |
5: 86,330,128 (GRCm39) |
N297K |
possibly damaging |
Het |
Grin2b |
A |
G |
6: 135,716,130 (GRCm39) |
F729S |
probably damaging |
Het |
Hdac3 |
C |
A |
18: 38,074,147 (GRCm39) |
R359L |
probably benign |
Het |
Met |
T |
C |
6: 17,534,142 (GRCm39) |
S662P |
possibly damaging |
Het |
Mphosph9 |
T |
A |
5: 124,398,052 (GRCm39) |
E1081D |
probably damaging |
Het |
Mycbp2 |
T |
G |
14: 103,457,560 (GRCm39) |
T1546P |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,264,381 (GRCm39) |
M767K |
possibly damaging |
Het |
Or8b47 |
T |
A |
9: 38,435,856 (GRCm39) |
V276D |
probably damaging |
Het |
Pcf11 |
A |
T |
7: 92,310,826 (GRCm39) |
N178K |
possibly damaging |
Het |
Polr3a |
T |
C |
14: 24,520,945 (GRCm39) |
I571M |
probably benign |
Het |
Ppef2 |
T |
A |
5: 92,379,678 (GRCm39) |
R557W |
probably benign |
Het |
Prelid3a |
T |
A |
18: 67,606,864 (GRCm39) |
D85E |
probably damaging |
Het |
Rb1cc1 |
A |
G |
1: 6,310,247 (GRCm39) |
E215G |
probably damaging |
Het |
Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
Recql4 |
C |
T |
15: 76,591,485 (GRCm39) |
G501R |
probably damaging |
Het |
Sema3e |
T |
C |
5: 14,283,740 (GRCm39) |
|
probably benign |
Het |
Shisa6 |
A |
C |
11: 66,110,788 (GRCm39) |
L318V |
probably damaging |
Het |
Slu7 |
T |
C |
11: 43,329,719 (GRCm39) |
|
probably benign |
Het |
Spink12 |
T |
C |
18: 44,237,836 (GRCm39) |
V38A |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,144,698 (GRCm39) |
D1549G |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,715,531 (GRCm39) |
V88A |
possibly damaging |
Het |
Tmem200a |
C |
T |
10: 25,869,501 (GRCm39) |
G256D |
probably damaging |
Het |
Ttn |
G |
T |
2: 76,714,835 (GRCm39) |
|
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 87,040,750 (GRCm39) |
I391V |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,809,415 (GRCm39) |
L1215I |
probably benign |
Het |
Zfp410 |
C |
A |
12: 84,372,550 (GRCm39) |
N125K |
probably damaging |
Het |
|
Other mutations in Olfm5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01843:Olfm5
|
APN |
7 |
103,809,951 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02097:Olfm5
|
APN |
7 |
103,803,438 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02322:Olfm5
|
APN |
7 |
103,803,608 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02324:Olfm5
|
APN |
7 |
103,803,302 (GRCm39) |
splice site |
probably null |
|
R0128:Olfm5
|
UTSW |
7 |
103,810,133 (GRCm39) |
missense |
probably benign |
|
R0400:Olfm5
|
UTSW |
7 |
103,803,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R0600:Olfm5
|
UTSW |
7 |
103,803,076 (GRCm39) |
nonsense |
probably null |
|
R0610:Olfm5
|
UTSW |
7 |
103,803,652 (GRCm39) |
nonsense |
probably null |
|
R0699:Olfm5
|
UTSW |
7 |
103,803,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R1960:Olfm5
|
UTSW |
7 |
103,809,619 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1978:Olfm5
|
UTSW |
7 |
103,813,948 (GRCm39) |
missense |
unknown |
|
R2391:Olfm5
|
UTSW |
7 |
103,810,041 (GRCm39) |
missense |
probably benign |
0.00 |
R3774:Olfm5
|
UTSW |
7 |
103,811,056 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4632:Olfm5
|
UTSW |
7 |
103,810,100 (GRCm39) |
missense |
probably benign |
0.00 |
R4770:Olfm5
|
UTSW |
7 |
103,809,685 (GRCm39) |
missense |
probably benign |
0.04 |
R4838:Olfm5
|
UTSW |
7 |
103,803,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R5274:Olfm5
|
UTSW |
7 |
103,809,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R5455:Olfm5
|
UTSW |
7 |
103,803,669 (GRCm39) |
missense |
probably damaging |
0.99 |
R5930:Olfm5
|
UTSW |
7 |
103,803,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R6416:Olfm5
|
UTSW |
7 |
103,803,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R7126:Olfm5
|
UTSW |
7 |
103,809,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R7535:Olfm5
|
UTSW |
7 |
103,803,444 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7682:Olfm5
|
UTSW |
7 |
103,810,979 (GRCm39) |
missense |
probably null |
0.49 |
R7835:Olfm5
|
UTSW |
7 |
103,803,652 (GRCm39) |
nonsense |
probably null |
|
R8308:Olfm5
|
UTSW |
7 |
103,803,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R8531:Olfm5
|
UTSW |
7 |
103,803,029 (GRCm39) |
missense |
probably benign |
0.00 |
R9035:Olfm5
|
UTSW |
7 |
103,803,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R9072:Olfm5
|
UTSW |
7 |
103,802,984 (GRCm39) |
missense |
probably benign |
|
R9185:Olfm5
|
UTSW |
7 |
103,810,095 (GRCm39) |
nonsense |
probably null |
|
X0011:Olfm5
|
UTSW |
7 |
103,803,153 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1088:Olfm5
|
UTSW |
7 |
103,803,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |