Incidental Mutation 'IGL01928:Olfm4'
ID |
180353 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Olfm4
|
Ensembl Gene |
ENSMUSG00000022026 |
Gene Name |
olfactomedin 4 |
Synonyms |
GC1, OlfD, pPD4, LOC380924, LOC239192, GW112 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
IGL01928
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
80237742-80260581 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80249392 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 170
(V170I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088735]
[ENSMUST00000228749]
|
AlphaFold |
Q3UZZ4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000088735
AA Change: V170I
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000086112 Gene: ENSMUSG00000022026 AA Change: V170I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
32 |
43 |
N/A |
INTRINSIC |
low complexity region
|
225 |
243 |
N/A |
INTRINSIC |
OLF
|
274 |
532 |
8.53e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226541
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228749
AA Change: V170I
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
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 was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced colonization of the gastric mucosa by Helicobacter pylori but increased inflammatory response to H. pylori infection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,633,342 (GRCm39) |
T5024S |
probably benign |
Het |
Adam23 |
C |
A |
1: 63,596,605 (GRCm39) |
N562K |
probably damaging |
Het |
Brd9 |
G |
A |
13: 74,103,630 (GRCm39) |
M503I |
probably benign |
Het |
Cyp2j8 |
A |
T |
4: 96,358,713 (GRCm39) |
|
probably benign |
Het |
Erich6 |
T |
C |
3: 58,528,692 (GRCm39) |
I519M |
probably damaging |
Het |
Fscn3 |
A |
G |
6: 28,430,181 (GRCm39) |
E117G |
possibly damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm45234 |
A |
G |
6: 124,721,967 (GRCm39) |
|
probably benign |
Het |
Ighv1-47 |
T |
A |
12: 114,954,913 (GRCm39) |
M56L |
probably benign |
Het |
Klf4 |
A |
G |
4: 55,530,949 (GRCm39) |
L45P |
probably benign |
Het |
Ksr1 |
A |
C |
11: 78,935,665 (GRCm39) |
|
probably null |
Het |
L3mbtl3 |
T |
C |
10: 26,206,143 (GRCm39) |
N341S |
unknown |
Het |
Mfsd12 |
T |
C |
10: 81,201,622 (GRCm39) |
|
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,074,847 (GRCm39) |
|
probably benign |
Het |
Ntrk2 |
T |
A |
13: 58,994,665 (GRCm39) |
C194S |
probably damaging |
Het |
Onecut1 |
C |
A |
9: 74,796,815 (GRCm39) |
Q445K |
possibly damaging |
Het |
Or8g22 |
A |
C |
9: 38,958,709 (GRCm39) |
D46E |
unknown |
Het |
Pak6 |
A |
G |
2: 118,520,345 (GRCm39) |
Q112R |
probably damaging |
Het |
Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
C |
T |
3: 79,011,270 (GRCm39) |
E124K |
probably damaging |
Het |
Snx14 |
T |
C |
9: 88,263,565 (GRCm39) |
T893A |
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Spag17 |
T |
C |
3: 99,847,390 (GRCm39) |
|
probably benign |
Het |
Tgds |
T |
C |
14: 118,353,541 (GRCm39) |
T259A |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Zc3h12a |
A |
G |
4: 125,013,779 (GRCm39) |
S362P |
probably benign |
Het |
Zfyve16 |
A |
G |
13: 92,641,006 (GRCm39) |
I1246T |
probably damaging |
Het |
|
Other mutations in Olfm4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00532:Olfm4
|
APN |
14 |
80,258,583 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01108:Olfm4
|
APN |
14 |
80,259,339 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01599:Olfm4
|
APN |
14 |
80,258,750 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01872:Olfm4
|
APN |
14 |
80,259,368 (GRCm39) |
makesense |
probably null |
|
IGL02333:Olfm4
|
APN |
14 |
80,259,210 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02336:Olfm4
|
APN |
14 |
80,243,761 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02811:Olfm4
|
APN |
14 |
80,259,113 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4651001:Olfm4
|
UTSW |
14 |
80,258,925 (GRCm39) |
missense |
probably benign |
0.00 |
R1428:Olfm4
|
UTSW |
14 |
80,258,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R1649:Olfm4
|
UTSW |
14 |
80,249,422 (GRCm39) |
missense |
probably damaging |
0.98 |
R2139:Olfm4
|
UTSW |
14 |
80,251,755 (GRCm39) |
missense |
probably benign |
0.00 |
R2270:Olfm4
|
UTSW |
14 |
80,249,315 (GRCm39) |
missense |
probably damaging |
0.96 |
R2401:Olfm4
|
UTSW |
14 |
80,259,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R4527:Olfm4
|
UTSW |
14 |
80,258,664 (GRCm39) |
missense |
probably benign |
0.13 |
R4649:Olfm4
|
UTSW |
14 |
80,258,747 (GRCm39) |
missense |
probably benign |
0.00 |
R5232:Olfm4
|
UTSW |
14 |
80,259,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R5512:Olfm4
|
UTSW |
14 |
80,258,787 (GRCm39) |
missense |
probably benign |
0.32 |
R6198:Olfm4
|
UTSW |
14 |
80,237,813 (GRCm39) |
missense |
probably benign |
0.18 |
R6642:Olfm4
|
UTSW |
14 |
80,259,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R6828:Olfm4
|
UTSW |
14 |
80,258,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R6916:Olfm4
|
UTSW |
14 |
80,251,638 (GRCm39) |
missense |
probably damaging |
0.97 |
R6960:Olfm4
|
UTSW |
14 |
80,258,754 (GRCm39) |
missense |
probably damaging |
0.97 |
R7329:Olfm4
|
UTSW |
14 |
80,249,369 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7971:Olfm4
|
UTSW |
14 |
80,259,240 (GRCm39) |
missense |
probably damaging |
0.98 |
R8872:Olfm4
|
UTSW |
14 |
80,258,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R9008:Olfm4
|
UTSW |
14 |
80,255,607 (GRCm39) |
missense |
unknown |
|
R9398:Olfm4
|
UTSW |
14 |
80,249,249 (GRCm39) |
missense |
probably benign |
0.12 |
R9599:Olfm4
|
UTSW |
14 |
80,243,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R9600:Olfm4
|
UTSW |
14 |
80,243,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R9784:Olfm4
|
UTSW |
14 |
80,249,348 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Olfm4
|
UTSW |
14 |
80,258,659 (GRCm39) |
missense |
probably benign |
0.39 |
Z1177:Olfm4
|
UTSW |
14 |
80,237,892 (GRCm39) |
missense |
probably benign |
0.40 |
|
Posted On |
2014-05-07 |