Incidental Mutation 'R4347:Olfml1'
| ID |
328370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfml1
|
| Ensembl Gene |
ENSMUSG00000051041 |
| Gene Name |
olfactomedin-like 1 |
| Synonyms |
mONT2, ONT2, MVAL564 |
| MMRRC Submission |
041102-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4347 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
107166653-107190301 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107167040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 23
(P23L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000120990]
|
| AlphaFold |
Q8BSH2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120990
AA Change: P23L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000114029
Gene: ENSMUSG00000051041
AA Change: P23L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
132 |
N/A |
INTRINSIC |
|
Pfam:OLF
|
145 |
233 |
5.5e-19 |
PFAM |
|
| Meta Mutation Damage Score |
0.1139 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
C |
T |
11: 3,840,122 (GRCm39) |
V92M |
probably damaging |
Het |
| 4930503E14Rik |
C |
A |
14: 44,408,635 (GRCm39) |
R66S |
probably damaging |
Het |
| Abca5 |
A |
T |
11: 110,190,794 (GRCm39) |
I772N |
probably damaging |
Het |
| Acox1 |
T |
C |
11: 116,089,487 (GRCm39) |
N15S |
probably benign |
Het |
| Arhgap28 |
C |
T |
17: 68,180,137 (GRCm39) |
V233I |
probably benign |
Het |
| Chil4 |
T |
C |
3: 106,110,144 (GRCm39) |
I317V |
probably benign |
Het |
| Dvl3 |
G |
A |
16: 20,350,049 (GRCm39) |
R645H |
possibly damaging |
Het |
| Efl1 |
A |
T |
7: 82,347,174 (GRCm39) |
M567L |
probably damaging |
Het |
| Gal3st2b |
C |
T |
1: 93,867,530 (GRCm39) |
T59I |
probably damaging |
Het |
| Gm7135 |
T |
A |
1: 97,276,035 (GRCm39) |
|
noncoding transcript |
Het |
| Gpihbp1 |
T |
G |
15: 75,470,017 (GRCm39) |
*124G |
probably null |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,164 (GRCm39) |
R44W |
probably benign |
Het |
| Igkv13-84 |
T |
A |
6: 68,916,760 (GRCm39) |
I19K |
probably benign |
Het |
| Kcnab1 |
A |
G |
3: 65,204,896 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
C |
A |
4: 149,331,691 (GRCm39) |
G545C |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,650,279 (GRCm39) |
S1328P |
possibly damaging |
Het |
| Nrp1 |
T |
C |
8: 129,207,472 (GRCm39) |
|
probably null |
Het |
| Plekhh2 |
G |
A |
17: 84,927,130 (GRCm39) |
A1457T |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,990,531 (GRCm39) |
I40V |
possibly damaging |
Het |
| Slc25a54 |
A |
G |
3: 109,010,055 (GRCm39) |
T185A |
possibly damaging |
Het |
| Srek1 |
C |
T |
13: 103,885,267 (GRCm39) |
G396D |
probably null |
Het |
| Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
| Trim3 |
C |
T |
7: 105,268,594 (GRCm39) |
G120D |
probably damaging |
Het |
| Usp5 |
T |
A |
6: 124,798,158 (GRCm39) |
Q409L |
probably damaging |
Het |
| Vim |
T |
G |
2: 13,580,329 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Olfml1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01285:Olfml1
|
APN |
7 |
107,189,364 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02355:Olfml1
|
APN |
7 |
107,167,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02362:Olfml1
|
APN |
7 |
107,167,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03218:Olfml1
|
APN |
7 |
107,170,476 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03291:Olfml1
|
APN |
7 |
107,189,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0041:Olfml1
|
UTSW |
7 |
107,189,393 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0041:Olfml1
|
UTSW |
7 |
107,189,393 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0081:Olfml1
|
UTSW |
7 |
107,170,506 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0524:Olfml1
|
UTSW |
7 |
107,189,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1311:Olfml1
|
UTSW |
7 |
107,167,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1548:Olfml1
|
UTSW |
7 |
107,189,582 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1564:Olfml1
|
UTSW |
7 |
107,170,346 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4997:Olfml1
|
UTSW |
7 |
107,170,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Olfml1
|
UTSW |
7 |
107,167,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7282:Olfml1
|
UTSW |
7 |
107,189,530 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7703:Olfml1
|
UTSW |
7 |
107,170,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7922:Olfml1
|
UTSW |
7 |
107,170,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Olfml1
|
UTSW |
7 |
107,189,570 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8441:Olfml1
|
UTSW |
7 |
107,166,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9002:Olfml1
|
UTSW |
7 |
107,189,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Olfml1
|
UTSW |
7 |
107,167,007 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9797:Olfml1
|
UTSW |
7 |
107,167,069 (GRCm39) |
missense |
probably benign |
0.25 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTGGCTATGCAAAGCGTTG -3'
(R):5'- CTGCTAGGCTATGCACATCTG -3'
Sequencing Primer
(F):5'- GTTTTCCAAGGAATTGCCACAGC -3'
(R):5'- GCTAGGCTATGCACATCTGTAAATG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation