Incidental Mutation 'IGL02337:Olfm1'
| ID |
288890 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Olfm1
|
| Ensembl Gene |
ENSMUSG00000026833 |
| Gene Name |
olfactomedin 1 |
| Synonyms |
Noelin 1, Pancortin 1-4, Noelin 2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
28083105-28120748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28119697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 429
(Y429C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028177]
[ENSMUST00000100244]
[ENSMUST00000113920]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028177
AA Change: Y472C
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: Y472C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:Noelin-1
|
54 |
153 |
1.5e-50 |
PFAM |
|
Blast:OLF
|
170 |
215 |
1e-5 |
BLAST |
|
OLF
|
228 |
478 |
5.43e-170 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100244
AA Change: Y444C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: Y444C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:Noelin-1
|
25 |
125 |
2.6e-53 |
PFAM |
|
Blast:OLF
|
142 |
187 |
1e-5 |
BLAST |
|
OLF
|
200 |
450 |
5.43e-170 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113920
AA Change: Y429C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: Y429C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Noelin-1
|
10 |
110 |
7.4e-53 |
PFAM |
|
Blast:OLF
|
127 |
172 |
1e-5 |
BLAST |
|
OLF
|
185 |
435 |
5.43e-170 |
SMART |
|
| 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 product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display decreased cerebral infarction size and reduced fertility. [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 |
|---|
| Aaas |
A |
G |
15: 102,247,662 (GRCm39) |
V403A |
probably benign |
Het |
| Afm |
A |
G |
5: 90,695,770 (GRCm39) |
T426A |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,235,451 (GRCm39) |
D697G |
probably benign |
Het |
| Barhl1 |
G |
T |
2: 28,801,431 (GRCm39) |
S204R |
probably damaging |
Het |
| Ceacam11 |
T |
A |
7: 17,707,550 (GRCm39) |
S111R |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,926,037 (GRCm39) |
|
probably benign |
Het |
| Cnot11 |
G |
A |
1: 39,583,964 (GRCm39) |
|
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,916,957 (GRCm39) |
T284A |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,040,253 (GRCm39) |
|
probably null |
Het |
| Fsip1 |
T |
A |
2: 118,082,195 (GRCm39) |
K80* |
probably null |
Het |
| Gaa |
G |
T |
11: 119,168,429 (GRCm39) |
G220C |
probably damaging |
Het |
| Gna15 |
T |
C |
10: 81,350,244 (GRCm39) |
S53G |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,052,133 (GRCm39) |
M321K |
possibly damaging |
Het |
| Hgfac |
C |
A |
5: 35,199,722 (GRCm39) |
T68K |
probably benign |
Het |
| Hmgxb4 |
C |
T |
8: 75,726,259 (GRCm39) |
R35W |
probably damaging |
Het |
| Itfg2 |
T |
C |
6: 128,390,533 (GRCm39) |
D184G |
probably benign |
Het |
| Kirrel1 |
G |
A |
3: 86,996,519 (GRCm39) |
T360I |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,412,756 (GRCm39) |
Q1240R |
possibly damaging |
Het |
| Lrrk1 |
G |
T |
7: 65,929,164 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Or4k77 |
T |
G |
2: 111,199,496 (GRCm39) |
V173G |
probably benign |
Het |
| Or5t5 |
T |
A |
2: 86,616,518 (GRCm39) |
M148K |
probably damaging |
Het |
| Pafah1b2 |
C |
T |
9: 45,884,287 (GRCm39) |
V122I |
probably benign |
Het |
| Pdcd1 |
T |
C |
1: 93,968,582 (GRCm39) |
T151A |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,892,079 (GRCm39) |
S697G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,177,697 (GRCm39) |
F96I |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,127,672 (GRCm39) |
D176G |
probably benign |
Het |
| Tarbp2 |
C |
A |
15: 102,430,428 (GRCm39) |
Q148K |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,864,889 (GRCm39) |
R329G |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,122,705 (GRCm39) |
|
probably benign |
Het |
| Vmn1r73 |
C |
A |
7: 11,490,640 (GRCm39) |
P153T |
possibly damaging |
Het |
| Zeb2 |
G |
A |
2: 44,887,242 (GRCm39) |
T605I |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,512 (GRCm39) |
S897P |
probably benign |
Het |
|
| Other mutations in Olfm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Olfm1
|
APN |
2 |
28,104,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01326:Olfm1
|
APN |
2 |
28,119,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01358:Olfm1
|
APN |
2 |
28,119,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02076:Olfm1
|
APN |
2 |
28,112,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02693:Olfm1
|
APN |
2 |
28,102,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02825:Olfm1
|
APN |
2 |
28,119,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Olfm1
|
APN |
2 |
28,119,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0266:Olfm1
|
UTSW |
2 |
28,119,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Olfm1
|
UTSW |
2 |
28,102,554 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0411:Olfm1
|
UTSW |
2 |
28,098,223 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0542:Olfm1
|
UTSW |
2 |
28,104,640 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1252:Olfm1
|
UTSW |
2 |
28,119,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1649:Olfm1
|
UTSW |
2 |
28,119,279 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1696:Olfm1
|
UTSW |
2 |
28,098,128 (GRCm39) |
nonsense |
probably null |
|
|
R1931:Olfm1
|
UTSW |
2 |
28,112,674 (GRCm39) |
splice site |
probably null |
|
|
R1986:Olfm1
|
UTSW |
2 |
28,104,718 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3749:Olfm1
|
UTSW |
2 |
28,098,100 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3913:Olfm1
|
UTSW |
2 |
28,098,186 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4927:Olfm1
|
UTSW |
2 |
28,104,798 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4940:Olfm1
|
UTSW |
2 |
28,112,602 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7033:Olfm1
|
UTSW |
2 |
28,119,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7059:Olfm1
|
UTSW |
2 |
28,112,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Olfm1
|
UTSW |
2 |
28,119,135 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
X0018:Olfm1
|
UTSW |
2 |
28,119,381 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Posted On |
2015-04-16 |
Incidental Mutation