Incidental Mutation 'IGL01872:Olfm4'
ID |
178755 |
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 # |
IGL01872
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
80237742-80260581 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 80259368 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glutamine
at position 506
(*506Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088735]
[ENSMUST00000228749]
|
AlphaFold |
Q3UZZ4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000088735
AA Change: *539Q
|
SMART Domains |
Protein: ENSMUSP00000086112 Gene: ENSMUSG00000022026 AA Change: *539Q
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 |
probably null
Transcript: ENSMUST00000228749
AA Change: *506Q
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
A |
T |
9: 124,058,120 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
A |
G |
18: 65,437,824 (GRCm39) |
S1657P |
probably benign |
Het |
Alx4 |
A |
G |
2: 93,507,818 (GRCm39) |
N371S |
probably benign |
Het |
Cby1 |
T |
A |
15: 79,549,943 (GRCm39) |
W59R |
probably damaging |
Het |
Chmp1a |
A |
T |
8: 123,932,976 (GRCm39) |
L159Q |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,268,121 (GRCm39) |
|
probably benign |
Het |
Cnksr1 |
A |
G |
4: 133,956,275 (GRCm39) |
I603T |
probably benign |
Het |
Dph1 |
A |
C |
11: 75,072,167 (GRCm39) |
F220C |
probably damaging |
Het |
Epha4 |
T |
A |
1: 77,359,676 (GRCm39) |
M726L |
probably benign |
Het |
Eps8l1 |
C |
T |
7: 4,475,295 (GRCm39) |
|
probably benign |
Het |
Fbxo24 |
C |
A |
5: 137,611,987 (GRCm39) |
R313L |
probably damaging |
Het |
Fgf4 |
C |
T |
7: 144,415,995 (GRCm39) |
R119* |
probably null |
Het |
Grb10 |
T |
C |
11: 11,920,547 (GRCm39) |
T24A |
probably damaging |
Het |
Ifi27l2a |
C |
T |
12: 103,401,719 (GRCm39) |
A2V |
probably damaging |
Het |
Ipmk |
T |
A |
10: 71,208,706 (GRCm39) |
M165K |
probably damaging |
Het |
Kcnk2 |
C |
T |
1: 188,988,780 (GRCm39) |
G266R |
probably damaging |
Het |
Mak |
A |
C |
13: 41,210,131 (GRCm39) |
M35R |
probably damaging |
Het |
Mlxipl |
A |
T |
5: 135,142,545 (GRCm39) |
I120F |
probably damaging |
Het |
Nav1 |
A |
G |
1: 135,381,814 (GRCm39) |
V1423A |
probably damaging |
Het |
Opn4 |
T |
A |
14: 34,319,166 (GRCm39) |
|
probably benign |
Het |
Or13a26 |
T |
C |
7: 140,284,176 (GRCm39) |
L4P |
possibly damaging |
Het |
Or52ab2 |
T |
C |
7: 102,970,179 (GRCm39) |
V187A |
probably benign |
Het |
Or5g23 |
T |
A |
2: 85,438,673 (GRCm39) |
M194L |
probably benign |
Het |
Otof |
G |
A |
5: 30,536,598 (GRCm39) |
|
probably benign |
Het |
Pde5a |
G |
A |
3: 122,588,018 (GRCm39) |
|
probably null |
Het |
Pik3r1 |
A |
T |
13: 101,825,625 (GRCm39) |
D87E |
probably benign |
Het |
Rbm6 |
A |
T |
9: 107,660,914 (GRCm39) |
V883E |
probably damaging |
Het |
Rptn |
A |
G |
3: 93,304,154 (GRCm39) |
S496G |
probably benign |
Het |
Sap130 |
A |
G |
18: 31,807,473 (GRCm39) |
R427G |
probably damaging |
Het |
Slc26a4 |
T |
C |
12: 31,589,202 (GRCm39) |
S415G |
probably benign |
Het |
Slc5a1 |
T |
C |
5: 33,311,981 (GRCm39) |
S458P |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,748,167 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
T |
6: 48,431,623 (GRCm39) |
V639L |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,729,077 (GRCm39) |
|
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vps54 |
G |
A |
11: 21,256,940 (GRCm39) |
A683T |
probably damaging |
Het |
Zfp354a |
A |
T |
11: 50,960,164 (GRCm39) |
N123I |
possibly damaging |
Het |
Zfpm2 |
T |
C |
15: 40,965,783 (GRCm39) |
V624A |
probably benign |
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 |
IGL01928:Olfm4
|
APN |
14 |
80,249,392 (GRCm39) |
missense |
possibly damaging |
0.71 |
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 |