Incidental Mutation 'IGL02130:Olfml3'
ID |
281005 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Olfml3
|
Ensembl Gene |
ENSMUSG00000027848 |
Gene Name |
olfactomedin-like 3 |
Synonyms |
HNOEL-iso, mONT3, ONT3, 2810002E22Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02130
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
103642710-103645317 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103644283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 129
(Y129H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029440]
[ENSMUST00000106852]
[ENSMUST00000118317]
[ENSMUST00000169286]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029440
AA Change: Y129H
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000029440 Gene: ENSMUSG00000027848 AA Change: Y129H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
Blast:OLF
|
65 |
133 |
8e-34 |
BLAST |
OLF
|
137 |
401 |
9.22e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106852
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118317
|
SMART Domains |
Protein: ENSMUSP00000113998 Gene: ENSMUSG00000008730
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
low complexity region
|
87 |
99 |
N/A |
INTRINSIC |
low complexity region
|
151 |
170 |
N/A |
INTRINSIC |
S_TKc
|
190 |
518 |
3.39e-76 |
SMART |
low complexity region
|
586 |
603 |
N/A |
INTRINSIC |
low complexity region
|
679 |
695 |
N/A |
INTRINSIC |
low complexity region
|
941 |
959 |
N/A |
INTRINSIC |
low complexity region
|
1047 |
1063 |
N/A |
INTRINSIC |
low complexity region
|
1095 |
1111 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154145
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157042
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169286
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the olfactomedin-like gene family which also includes genes encoding noelin, tiarin, myocilin, amassin, optimedin, photomedin, and latrophilin. The encoded protein is a secreted extracellular matrix glycoprotein with a C-terminal olfactomedin domain that facilitates protein-protein interactions, cell adhesion, and intercellular interactions. It serves as both a scaffold protein that recruits bone morphogenetic protein 1 to its substrate chordin, and as a vascular tissue remodeler with pro-angiogenic properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atxn7l1 |
A |
T |
12: 33,392,141 (GRCm39) |
K239M |
probably damaging |
Het |
Cep164 |
T |
C |
9: 45,691,090 (GRCm39) |
E1230G |
possibly damaging |
Het |
Fas |
A |
G |
19: 34,292,695 (GRCm39) |
T101A |
probably benign |
Het |
Fcnb |
A |
G |
2: 27,974,801 (GRCm39) |
|
probably null |
Het |
Gm14325 |
A |
G |
2: 177,476,445 (GRCm39) |
|
probably benign |
Het |
Gm4877 |
A |
T |
6: 42,496,991 (GRCm39) |
|
noncoding transcript |
Het |
Heyl |
T |
C |
4: 123,140,064 (GRCm39) |
S208P |
probably benign |
Het |
Ighv10-3 |
A |
T |
12: 114,487,121 (GRCm39) |
L100H |
probably damaging |
Het |
Irs1 |
T |
C |
1: 82,267,188 (GRCm39) |
S343G |
probably damaging |
Het |
Lrriq4 |
T |
A |
3: 30,704,896 (GRCm39) |
V293E |
probably damaging |
Het |
Mbd3l1 |
A |
T |
9: 18,396,023 (GRCm39) |
R49S |
probably damaging |
Het |
Mdga1 |
A |
G |
17: 30,076,643 (GRCm39) |
I43T |
possibly damaging |
Het |
N4bp3 |
T |
C |
11: 51,534,773 (GRCm39) |
E430G |
possibly damaging |
Het |
Or4c125 |
C |
A |
2: 89,169,927 (GRCm39) |
V240F |
probably damaging |
Het |
Or8b12i |
A |
G |
9: 20,082,654 (GRCm39) |
I71T |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,183,023 (GRCm39) |
V424A |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,230,386 (GRCm39) |
V804E |
probably damaging |
Het |
Rnf103 |
T |
C |
6: 71,486,548 (GRCm39) |
L393S |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,644,481 (GRCm39) |
|
probably benign |
Het |
Slc25a16 |
A |
G |
10: 62,780,137 (GRCm39) |
I299V |
probably benign |
Het |
Tmprss2 |
A |
T |
16: 97,392,089 (GRCm39) |
C5S |
probably damaging |
Het |
Trpv3 |
A |
C |
11: 73,170,596 (GRCm39) |
M159L |
probably benign |
Het |
Vmn2r45 |
A |
T |
7: 8,486,556 (GRCm39) |
M244K |
possibly damaging |
Het |
|
Other mutations in Olfml3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00428:Olfml3
|
APN |
3 |
103,644,298 (GRCm39) |
splice site |
probably null |
|
R0133:Olfml3
|
UTSW |
3 |
103,644,342 (GRCm39) |
splice site |
probably null |
|
R0427:Olfml3
|
UTSW |
3 |
103,644,330 (GRCm39) |
missense |
probably benign |
0.27 |
R2130:Olfml3
|
UTSW |
3 |
103,643,185 (GRCm39) |
missense |
probably benign |
0.05 |
R2131:Olfml3
|
UTSW |
3 |
103,643,185 (GRCm39) |
missense |
probably benign |
0.05 |
R2133:Olfml3
|
UTSW |
3 |
103,643,185 (GRCm39) |
missense |
probably benign |
0.05 |
R4688:Olfml3
|
UTSW |
3 |
103,639,497 (GRCm39) |
utr 3 prime |
probably benign |
|
R5211:Olfml3
|
UTSW |
3 |
103,644,515 (GRCm39) |
missense |
probably benign |
|
R5227:Olfml3
|
UTSW |
3 |
103,643,737 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6223:Olfml3
|
UTSW |
3 |
103,643,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R6493:Olfml3
|
UTSW |
3 |
103,643,523 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7128:Olfml3
|
UTSW |
3 |
103,644,484 (GRCm39) |
missense |
probably benign |
|
R7191:Olfml3
|
UTSW |
3 |
103,643,176 (GRCm39) |
missense |
probably damaging |
0.99 |
R7224:Olfml3
|
UTSW |
3 |
103,643,176 (GRCm39) |
missense |
probably damaging |
0.99 |
R7298:Olfml3
|
UTSW |
3 |
103,643,176 (GRCm39) |
missense |
probably damaging |
0.99 |
R7299:Olfml3
|
UTSW |
3 |
103,643,176 (GRCm39) |
missense |
probably damaging |
0.99 |
R7300:Olfml3
|
UTSW |
3 |
103,643,176 (GRCm39) |
missense |
probably damaging |
0.99 |
R7355:Olfml3
|
UTSW |
3 |
103,643,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Olfml3
|
UTSW |
3 |
103,643,575 (GRCm39) |
missense |
probably benign |
0.00 |
R9568:Olfml3
|
UTSW |
3 |
103,644,282 (GRCm39) |
missense |
possibly damaging |
0.89 |
X0058:Olfml3
|
UTSW |
3 |
103,639,432 (GRCm39) |
utr 3 prime |
probably benign |
|
|
Posted On |
2015-04-16 |