Incidental Mutation 'R5211:Olfml3'
ID |
403122 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olfml3
|
Ensembl Gene |
ENSMUSG00000027848 |
Gene Name |
olfactomedin-like 3 |
Synonyms |
HNOEL-iso, mONT3, ONT3, 2810002E22Rik |
MMRRC Submission |
042785-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5211 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
103642710-103645317 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 103644515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 51
(H51Q)
|
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: H51Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000029440 Gene: ENSMUSG00000027848 AA Change: H51Q
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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930012K11Rik |
A |
G |
14: 70,394,233 (GRCm39) |
S181P |
probably benign |
Het |
Adgrf5 |
A |
T |
17: 43,733,511 (GRCm39) |
T112S |
probably benign |
Het |
Ascc2 |
T |
C |
11: 4,623,399 (GRCm39) |
V545A |
possibly damaging |
Het |
Bmp2 |
A |
T |
2: 133,396,550 (GRCm39) |
S69C |
probably damaging |
Het |
Btaf1 |
T |
A |
19: 36,973,962 (GRCm39) |
I1378K |
probably benign |
Het |
Ces2b |
C |
T |
8: 105,561,695 (GRCm39) |
T263I |
possibly damaging |
Het |
Cntn5 |
A |
T |
9: 9,704,894 (GRCm39) |
V635D |
possibly damaging |
Het |
Dock6 |
T |
C |
9: 21,731,648 (GRCm39) |
E1218G |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,804,145 (GRCm39) |
I319V |
probably benign |
Het |
Esd |
T |
C |
14: 74,978,632 (GRCm39) |
S65P |
probably damaging |
Het |
Exoc1l |
C |
A |
5: 76,664,250 (GRCm39) |
T113K |
possibly damaging |
Het |
Fstl3 |
A |
T |
10: 79,616,012 (GRCm39) |
Q166L |
probably benign |
Het |
Garin1a |
A |
T |
6: 29,286,098 (GRCm39) |
K128* |
probably null |
Het |
Gcn1 |
T |
A |
5: 115,757,371 (GRCm39) |
S2445T |
probably benign |
Het |
Gfy |
C |
A |
7: 44,827,282 (GRCm39) |
L271F |
possibly damaging |
Het |
Gjc2 |
A |
G |
11: 59,068,284 (GRCm39) |
V66A |
possibly damaging |
Het |
H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
Itm2c |
T |
A |
1: 85,834,249 (GRCm39) |
V188E |
probably damaging |
Het |
Jmjd1c |
C |
G |
10: 67,067,795 (GRCm39) |
S1766C |
probably damaging |
Het |
Kcnn3 |
A |
G |
3: 89,428,538 (GRCm39) |
T255A |
probably benign |
Het |
Kdm4d |
A |
C |
9: 14,374,400 (GRCm39) |
V486G |
probably benign |
Het |
Krt18 |
T |
G |
15: 101,939,888 (GRCm39) |
I362S |
probably damaging |
Het |
Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
Ly6f |
G |
A |
15: 75,143,652 (GRCm39) |
V120M |
probably damaging |
Het |
Map3k4 |
A |
G |
17: 12,451,321 (GRCm39) |
V1524A |
possibly damaging |
Het |
Mrgprh |
T |
C |
17: 13,095,889 (GRCm39) |
V43A |
probably benign |
Het |
Mx2 |
A |
T |
16: 97,348,633 (GRCm39) |
M269L |
probably damaging |
Het |
Myrfl |
C |
T |
10: 116,634,535 (GRCm39) |
V620I |
probably benign |
Het |
Nlrp9b |
G |
A |
7: 19,783,381 (GRCm39) |
C908Y |
probably damaging |
Het |
Nyap2 |
T |
A |
1: 81,064,991 (GRCm39) |
M1K |
probably null |
Het |
Or11h6 |
C |
T |
14: 50,880,710 (GRCm39) |
T324I |
possibly damaging |
Het |
Pcdhb1 |
G |
A |
18: 37,399,704 (GRCm39) |
V552I |
probably benign |
Het |
Pm20d1 |
T |
A |
1: 131,734,647 (GRCm39) |
I353N |
possibly damaging |
Het |
Sbk2 |
A |
G |
7: 4,965,966 (GRCm39) |
F73L |
possibly damaging |
Het |
Scn10a |
A |
C |
9: 119,490,298 (GRCm39) |
L548R |
possibly damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,204,117 (GRCm39) |
Y68C |
probably damaging |
Het |
Syde2 |
T |
C |
3: 145,707,093 (GRCm39) |
V611A |
probably benign |
Het |
Sympk |
A |
G |
7: 18,769,814 (GRCm39) |
M164V |
probably benign |
Het |
Syt17 |
T |
C |
7: 118,041,626 (GRCm39) |
S43G |
probably benign |
Het |
Ubr1 |
T |
C |
2: 120,723,651 (GRCm39) |
T1303A |
possibly damaging |
Het |
Vmn2r100 |
A |
G |
17: 19,746,257 (GRCm39) |
Y535C |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTACACAGGGCAAAGCTGG -3'
(R):5'- AAGGTGAAGGACTCTTATTCAGGC -3'
Sequencing Primer
(F):5'- CAAAGCTGGGTTCTGTGTCTCC -3'
(R):5'- AATTAAGCCAGGTTCCTCGG -3'
|
Posted On |
2016-07-22 |