Incidental Mutation 'IGL00428:Olfml3'
| ID |
6802 |
| 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 # |
IGL00428
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103642710-103645317 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 103644298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029440]
[ENSMUST00000106852]
[ENSMUST00000118317]
[ENSMUST00000169286]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029440
AA Change: R124*
|
| SMART Domains |
Protein: ENSMUSP00000029440
Gene: ENSMUSG00000027848
AA Change: R124*
| 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 null
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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg6 |
G |
A |
10: 14,343,119 (GRCm39) |
P276L |
probably benign |
Het |
| Asap1 |
G |
A |
15: 63,991,803 (GRCm39) |
|
probably benign |
Het |
| Axl |
T |
C |
7: 25,460,297 (GRCm39) |
T723A |
probably damaging |
Het |
| Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,876 (GRCm39) |
N3491S |
probably benign |
Het |
| Capn7 |
A |
G |
14: 31,085,535 (GRCm39) |
K503E |
probably benign |
Het |
| Cbln4 |
A |
G |
2: 171,880,970 (GRCm39) |
V108A |
probably benign |
Het |
| Ccdc71 |
C |
T |
9: 108,341,354 (GRCm39) |
T389M |
probably damaging |
Het |
| Ccdc91 |
A |
G |
6: 147,508,452 (GRCm39) |
T393A |
unknown |
Het |
| Cdh20 |
A |
T |
1: 104,881,612 (GRCm39) |
H359L |
probably benign |
Het |
| Cfap119 |
A |
T |
7: 127,184,210 (GRCm39) |
S229T |
probably damaging |
Het |
| Coro7 |
C |
T |
16: 4,452,500 (GRCm39) |
V364M |
possibly damaging |
Het |
| Ctsq |
A |
T |
13: 61,185,528 (GRCm39) |
N204K |
probably damaging |
Het |
| Dnaja3 |
C |
T |
16: 4,512,309 (GRCm39) |
R238C |
probably damaging |
Het |
| Dynlt1a |
C |
T |
17: 6,362,062 (GRCm39) |
V39I |
possibly damaging |
Het |
| Gp1ba |
A |
G |
11: 70,531,478 (GRCm39) |
|
probably benign |
Het |
| Gtf3c3 |
T |
C |
1: 54,455,114 (GRCm39) |
Y583C |
probably damaging |
Het |
| Invs |
T |
C |
4: 48,402,909 (GRCm39) |
F514S |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,833,750 (GRCm39) |
C484S |
probably benign |
Het |
| Masp1 |
A |
G |
16: 23,295,062 (GRCm39) |
Y400H |
probably damaging |
Het |
| Pard3b |
T |
C |
1: 62,200,357 (GRCm39) |
S299P |
probably damaging |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,623 (GRCm39) |
E194D |
possibly damaging |
Het |
| Pip5k1c |
A |
T |
10: 81,141,545 (GRCm39) |
T78S |
probably benign |
Het |
| Septin11 |
T |
C |
5: 93,304,877 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,422,823 (GRCm39) |
N11D |
probably benign |
Het |
| Slc10a6 |
G |
A |
5: 103,760,362 (GRCm39) |
T211I |
probably benign |
Het |
| Smim8 |
T |
C |
4: 34,769,006 (GRCm39) |
T93A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,645,273 (GRCm39) |
I774M |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,189,351 (GRCm39) |
T58A |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,519,424 (GRCm39) |
|
probably benign |
Het |
| Wdr62 |
T |
C |
7: 29,970,177 (GRCm39) |
D210G |
probably damaging |
Het |
| Zfp984 |
C |
T |
4: 147,839,343 (GRCm39) |
G503S |
probably benign |
Het |
|
| Other mutations in Olfml3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02130:Olfml3
|
APN |
3 |
103,644,283 (GRCm39) |
missense |
probably benign |
0.20 |
|
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 |
2012-04-20 |
Incidental Mutation