Incidental Mutation 'IGL02076:Olfm1'
ID |
185991 |
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 # |
IGL02076
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
28083105-28120748 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 28112637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 223
(T223A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028177]
[ENSMUST00000100244]
[ENSMUST00000113920]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028177
AA Change: T251A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000028177 Gene: ENSMUSG00000026833 AA Change: T251A
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: T223A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000097815 Gene: ENSMUSG00000026833 AA Change: T223A
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 |
possibly damaging
Transcript: ENSMUST00000113920
AA Change: T208A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109553 Gene: ENSMUSG00000026833 AA Change: T208A
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
T |
C |
5: 8,186,900 (GRCm39) |
Y407C |
probably damaging |
Het |
Capn5 |
T |
A |
7: 97,780,950 (GRCm39) |
K276* |
probably null |
Het |
Cct4 |
T |
C |
11: 22,952,394 (GRCm39) |
V495A |
probably damaging |
Het |
Dapk3 |
A |
G |
10: 81,026,131 (GRCm39) |
K141E |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,313,385 (GRCm39) |
N4264S |
probably damaging |
Het |
Dok1 |
A |
G |
6: 83,009,812 (GRCm39) |
L99P |
probably damaging |
Het |
Ebf3 |
A |
G |
7: 136,833,030 (GRCm39) |
V215A |
possibly damaging |
Het |
Efnb2 |
A |
G |
8: 8,710,488 (GRCm39) |
S43P |
probably benign |
Het |
Jhy |
G |
A |
9: 40,828,674 (GRCm39) |
Q411* |
probably null |
Het |
Krt73 |
G |
A |
15: 101,708,370 (GRCm39) |
T229I |
probably damaging |
Het |
Mroh8 |
A |
G |
2: 157,113,882 (GRCm39) |
|
probably null |
Het |
Oprk1 |
T |
A |
1: 5,672,512 (GRCm39) |
D216E |
probably damaging |
Het |
Or4b1d |
T |
A |
2: 89,969,159 (GRCm39) |
E108V |
probably damaging |
Het |
Or8g23 |
A |
G |
9: 38,971,881 (GRCm39) |
L27P |
probably damaging |
Het |
Pim1 |
T |
A |
17: 29,712,777 (GRCm39) |
I230N |
probably damaging |
Het |
Ppm1f |
A |
C |
16: 16,732,035 (GRCm39) |
T162P |
possibly damaging |
Het |
Rbbp8 |
T |
C |
18: 11,838,876 (GRCm39) |
Y186H |
probably damaging |
Het |
Sema4a |
C |
T |
3: 88,357,829 (GRCm39) |
R225H |
probably damaging |
Het |
Slc15a2 |
A |
C |
16: 36,582,743 (GRCm39) |
F215C |
probably damaging |
Het |
Slc25a1 |
A |
G |
16: 17,745,490 (GRCm39) |
C41R |
possibly damaging |
Het |
Stil |
C |
A |
4: 114,880,834 (GRCm39) |
H459Q |
probably benign |
Het |
Tbc1d32 |
A |
G |
10: 55,964,499 (GRCm39) |
I900T |
possibly damaging |
Het |
Tmem33 |
T |
C |
5: 67,443,446 (GRCm39) |
F208L |
probably damaging |
Het |
Utp25 |
T |
C |
1: 192,812,367 (GRCm39) |
H31R |
probably damaging |
Het |
Vmn2r72 |
A |
G |
7: 85,387,575 (GRCm39) |
V663A |
probably damaging |
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 |
IGL02337:Olfm1
|
APN |
2 |
28,119,697 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2014-05-07 |