Incidental Mutation 'IGL03140:Olfml2a'
ID |
410666 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Olfml2a
|
Ensembl Gene |
ENSMUSG00000046618 |
Gene Name |
olfactomedin-like 2A |
Synonyms |
photomedin-1, 4932431K08Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.083)
|
Stock # |
IGL03140
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
38821992-38850597 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 38837303 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 149
(K149E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058761
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057279]
|
AlphaFold |
Q8BHP7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057279
AA Change: K149E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000058761 Gene: ENSMUSG00000046618 AA Change: K149E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
internal_repeat_1
|
39 |
66 |
2.55e-7 |
PROSPERO |
internal_repeat_1
|
78 |
105 |
2.55e-7 |
PROSPERO |
coiled coil region
|
168 |
189 |
N/A |
INTRINSIC |
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
low complexity region
|
252 |
271 |
N/A |
INTRINSIC |
low complexity region
|
302 |
320 |
N/A |
INTRINSIC |
low complexity region
|
367 |
407 |
N/A |
INTRINSIC |
OLF
|
426 |
681 |
8.73e-69 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
G |
A |
19: 8,982,576 (GRCm39) |
|
probably benign |
Het |
Cd48 |
T |
C |
1: 171,523,451 (GRCm39) |
V98A |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,768,856 (GRCm39) |
R2485S |
possibly damaging |
Het |
Clec4a2 |
T |
C |
6: 123,117,735 (GRCm39) |
|
probably benign |
Het |
Ddx21 |
A |
G |
10: 62,429,850 (GRCm39) |
L298S |
probably damaging |
Het |
Efl1 |
A |
G |
7: 82,342,089 (GRCm39) |
E499G |
probably benign |
Het |
Fry |
A |
G |
5: 150,419,166 (GRCm39) |
N2870S |
probably damaging |
Het |
Ints8 |
G |
A |
4: 11,235,565 (GRCm39) |
P355S |
probably damaging |
Het |
Kmo |
T |
A |
1: 175,476,786 (GRCm39) |
V200D |
probably damaging |
Het |
Ldlrad4 |
A |
G |
18: 68,387,585 (GRCm39) |
D299G |
probably damaging |
Het |
Mus81 |
T |
C |
19: 5,533,984 (GRCm39) |
T416A |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,507,400 (GRCm39) |
S889P |
probably benign |
Het |
Nlrp9c |
T |
A |
7: 26,079,914 (GRCm39) |
D704V |
probably benign |
Het |
Ovgp1 |
A |
G |
3: 105,887,222 (GRCm39) |
D206G |
probably damaging |
Het |
Pcdhb3 |
T |
G |
18: 37,434,272 (GRCm39) |
H79Q |
probably benign |
Het |
Pira13 |
T |
C |
7: 3,826,247 (GRCm39) |
N249D |
probably benign |
Het |
Rnf19b |
T |
A |
4: 128,977,889 (GRCm39) |
V701D |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,444,020 (GRCm39) |
|
probably null |
Het |
Ubr3 |
A |
G |
2: 69,800,533 (GRCm39) |
Y952C |
probably damaging |
Het |
Vmn1r205 |
T |
C |
13: 22,776,746 (GRCm39) |
I119V |
possibly damaging |
Het |
Zfhx4 |
T |
G |
3: 5,307,585 (GRCm39) |
D270E |
probably damaging |
Het |
|
Other mutations in Olfml2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01098:Olfml2a
|
APN |
2 |
38,837,226 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02367:Olfml2a
|
APN |
2 |
38,844,680 (GRCm39) |
missense |
probably benign |
0.15 |
R0559:Olfml2a
|
UTSW |
2 |
38,849,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R0781:Olfml2a
|
UTSW |
2 |
38,849,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R1110:Olfml2a
|
UTSW |
2 |
38,849,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R1187:Olfml2a
|
UTSW |
2 |
38,849,825 (GRCm39) |
missense |
probably damaging |
1.00 |
R1626:Olfml2a
|
UTSW |
2 |
38,841,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R1634:Olfml2a
|
UTSW |
2 |
38,850,231 (GRCm39) |
missense |
probably benign |
0.03 |
R2127:Olfml2a
|
UTSW |
2 |
38,831,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R2987:Olfml2a
|
UTSW |
2 |
38,837,306 (GRCm39) |
missense |
probably damaging |
0.97 |
R4428:Olfml2a
|
UTSW |
2 |
38,831,755 (GRCm39) |
missense |
probably damaging |
0.96 |
R4564:Olfml2a
|
UTSW |
2 |
38,850,306 (GRCm39) |
missense |
probably benign |
0.40 |
R4609:Olfml2a
|
UTSW |
2 |
38,847,733 (GRCm39) |
missense |
probably damaging |
0.98 |
R4667:Olfml2a
|
UTSW |
2 |
38,839,022 (GRCm39) |
missense |
probably damaging |
0.99 |
R4703:Olfml2a
|
UTSW |
2 |
38,841,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R4827:Olfml2a
|
UTSW |
2 |
38,850,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Olfml2a
|
UTSW |
2 |
38,850,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R5879:Olfml2a
|
UTSW |
2 |
38,850,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R6063:Olfml2a
|
UTSW |
2 |
38,841,155 (GRCm39) |
missense |
probably benign |
0.03 |
R6484:Olfml2a
|
UTSW |
2 |
38,849,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R6788:Olfml2a
|
UTSW |
2 |
38,850,238 (GRCm39) |
nonsense |
probably null |
|
R7345:Olfml2a
|
UTSW |
2 |
38,850,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R7474:Olfml2a
|
UTSW |
2 |
38,850,273 (GRCm39) |
missense |
probably damaging |
0.98 |
R7971:Olfml2a
|
UTSW |
2 |
38,831,794 (GRCm39) |
splice site |
probably null |
|
R8073:Olfml2a
|
UTSW |
2 |
38,847,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R8846:Olfml2a
|
UTSW |
2 |
38,850,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R9108:Olfml2a
|
UTSW |
2 |
38,831,753 (GRCm39) |
missense |
probably benign |
0.10 |
R9425:Olfml2a
|
UTSW |
2 |
38,847,721 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Olfml2a
|
UTSW |
2 |
38,850,296 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Posted On |
2016-08-02 |