Incidental Mutation 'R7300:Olfml3'
| ID |
566914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfml3
|
| Ensembl Gene |
ENSMUSG00000027848 |
| Gene Name |
olfactomedin-like 3 |
| Synonyms |
HNOEL-iso, mONT3, ONT3, 2810002E22Rik |
| MMRRC Submission |
045404-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7300 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103642710-103645317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103643176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 402
(K402E)
|
| 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 damaging
Transcript: ENSMUST00000029440
AA Change: K402E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029440
Gene: ENSMUSG00000027848
AA Change: K402E
| 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 |
probably benign
Transcript: ENSMUST00000169286
|
| Meta Mutation Damage Score |
0.1856 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
94% (45/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,174,411 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
C |
9: 95,747,423 (GRCm39) |
I235T |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,066 (GRCm39) |
E172G |
possibly damaging |
Het |
| Btbd2 |
A |
T |
10: 80,480,100 (GRCm39) |
I420N |
probably damaging |
Het |
| Ccdc141 |
G |
A |
2: 76,845,038 (GRCm39) |
T1343I |
probably benign |
Het |
| Cd59b |
A |
T |
2: 103,914,795 (GRCm39) |
K64N |
possibly damaging |
Het |
| Cd63 |
A |
G |
10: 128,748,034 (GRCm39) |
N144S |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,834,217 (GRCm39) |
K631E |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,464,361 (GRCm39) |
R989Q |
unknown |
Het |
| Cyp4a31 |
A |
G |
4: 115,427,468 (GRCm39) |
T225A |
probably benign |
Het |
| Dnah1 |
T |
G |
14: 30,991,798 (GRCm39) |
E3068A |
probably benign |
Het |
| Fpgt |
C |
T |
3: 154,792,612 (GRCm39) |
V472I |
probably damaging |
Het |
| Gm4779 |
TCGGGGCCGGGGCCGGGGCCG |
TCGGGGCCGGGGCCGGGGCCGGGGCCG |
X: 100,837,777 (GRCm39) |
|
probably benign |
Het |
| Homer3 |
T |
C |
8: 70,737,953 (GRCm39) |
M1T |
probably null |
Het |
| Ighv1-4 |
T |
C |
12: 114,450,908 (GRCm39) |
I67V |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
| Il2ra |
A |
G |
2: 11,681,721 (GRCm39) |
T109A |
not run |
Het |
| Itgb6 |
T |
C |
2: 60,435,650 (GRCm39) |
D700G |
probably benign |
Het |
| Krt31 |
T |
C |
11: 99,938,612 (GRCm39) |
E327G |
probably damaging |
Het |
| Large1 |
A |
C |
8: 73,564,224 (GRCm39) |
L514R |
probably damaging |
Het |
| Map3k8 |
C |
T |
18: 4,349,076 (GRCm39) |
V81M |
probably damaging |
Het |
| Mstn |
T |
C |
1: 53,103,239 (GRCm39) |
S192P |
probably benign |
Het |
| Or13a27 |
A |
T |
7: 139,925,268 (GRCm39) |
N211K |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,588 (GRCm39) |
T151P |
possibly damaging |
Het |
| Or2y1c |
C |
T |
11: 49,361,473 (GRCm39) |
T165I |
probably benign |
Het |
| Or52i2 |
A |
G |
7: 102,319,417 (GRCm39) |
S97G |
probably benign |
Het |
| Or7g17 |
T |
C |
9: 18,768,530 (GRCm39) |
I194T |
not run |
Het |
| Or8k25 |
T |
C |
2: 86,244,330 (GRCm39) |
E22G |
probably null |
Het |
| Pde4a |
T |
C |
9: 21,117,618 (GRCm39) |
S627P |
probably damaging |
Het |
| Pdxdc1 |
A |
G |
16: 13,697,374 (GRCm39) |
I102T |
probably damaging |
Het |
| Phldb2 |
A |
G |
16: 45,645,925 (GRCm39) |
S174P |
probably damaging |
Het |
| Pla2g4e |
C |
T |
2: 120,021,680 (GRCm39) |
V143I |
probably damaging |
Het |
| Pou4f2 |
C |
T |
8: 79,162,735 (GRCm39) |
|
probably null |
Het |
| Ppl |
C |
T |
16: 4,920,235 (GRCm39) |
V387M |
possibly damaging |
Het |
| Pramel43 |
A |
T |
5: 94,760,655 (GRCm39) |
D340E |
probably benign |
Het |
| Rarg |
A |
T |
15: 102,160,852 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,758,936 (GRCm39) |
Y3414C |
probably damaging |
Het |
| Serpinb8 |
T |
A |
1: 107,535,053 (GRCm39) |
*375K |
probably null |
Het |
| Sim1 |
C |
T |
10: 50,785,614 (GRCm39) |
H228Y |
probably benign |
Het |
| Spag4 |
A |
T |
2: 155,907,541 (GRCm39) |
H87L |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,205,479 (GRCm39) |
L289Q |
probably damaging |
Het |
| Ubac2 |
T |
C |
14: 122,142,586 (GRCm39) |
L28P |
probably damaging |
Het |
| Vmn2r31 |
C |
A |
7: 7,387,775 (GRCm39) |
A599S |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,847,826 (GRCm39) |
V2196A |
probably benign |
Het |
| Zswim5 |
A |
T |
4: 116,833,102 (GRCm39) |
I612F |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,765,830 (GRCm39) |
H1452Q |
probably benign |
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 |
|
|
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 |
|
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'- TTCTGCATAAAACAGAGGGGC -3'
(R):5'- TCATCTGTGGGACCCTGTAC -3'
Sequencing Primer
(F):5'- CAGAGGGGCTTGAGAATTTGG -3'
(R):5'- GGGACCCTGTACGTTGTCTATAACAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation