Incidental Mutation 'IGL02811:Olfm4'
ID |
360589 |
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: 0.082)
|
Stock # |
IGL02811
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
80237742-80260581 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80259113 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 454
(S454T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086112
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088735]
[ENSMUST00000228749]
|
AlphaFold |
Q3UZZ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088735
AA Change: S454T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000086112 Gene: ENSMUSG00000022026 AA Change: S454T
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 damaging
Transcript: ENSMUST00000228749
AA Change: S421T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
C |
T |
13: 4,562,682 (GRCm39) |
R90H |
possibly damaging |
Het |
BC048679 |
A |
T |
7: 81,144,937 (GRCm39) |
|
probably benign |
Het |
Chd6 |
T |
C |
2: 160,832,221 (GRCm39) |
R984G |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,203,285 (GRCm39) |
I1139T |
possibly damaging |
Het |
Coq3 |
A |
G |
4: 21,900,273 (GRCm39) |
R167G |
probably damaging |
Het |
Crim1 |
A |
G |
17: 78,658,130 (GRCm39) |
K670E |
possibly damaging |
Het |
Crtac1 |
T |
C |
19: 42,322,350 (GRCm39) |
E130G |
probably damaging |
Het |
Dcbld1 |
A |
G |
10: 52,196,069 (GRCm39) |
T426A |
probably benign |
Het |
Dimt1 |
T |
C |
13: 107,084,175 (GRCm39) |
|
probably benign |
Het |
Dnal1 |
G |
A |
12: 84,178,166 (GRCm39) |
|
probably null |
Het |
Fes |
T |
C |
7: 80,029,589 (GRCm39) |
Y631C |
probably damaging |
Het |
Hemk1 |
A |
T |
9: 107,208,750 (GRCm39) |
V149E |
probably benign |
Het |
Itga6 |
T |
C |
2: 71,657,076 (GRCm39) |
V397A |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,520,026 (GRCm39) |
L2028* |
probably null |
Het |
Krt33b |
C |
A |
11: 99,920,395 (GRCm39) |
C86F |
probably benign |
Het |
Lmx1a |
A |
G |
1: 167,618,943 (GRCm39) |
I101V |
probably benign |
Het |
Mlh1 |
A |
G |
9: 111,100,582 (GRCm39) |
V4A |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,944,718 (GRCm39) |
I440V |
possibly damaging |
Het |
Mrpl35 |
A |
G |
6: 71,795,804 (GRCm39) |
Y28H |
probably benign |
Het |
Oas3 |
C |
A |
5: 120,902,387 (GRCm39) |
E636D |
unknown |
Het |
Or4l15 |
T |
A |
14: 50,197,590 (GRCm39) |
|
probably benign |
Het |
Or52ab2 |
T |
C |
7: 102,970,140 (GRCm39) |
I174T |
probably benign |
Het |
Otoa |
G |
T |
7: 120,717,878 (GRCm39) |
G365V |
possibly damaging |
Het |
Pdgfrl |
G |
T |
8: 41,430,005 (GRCm39) |
R124L |
probably damaging |
Het |
Rcbtb2 |
T |
A |
14: 73,411,851 (GRCm39) |
V380E |
probably damaging |
Het |
Rufy2 |
A |
G |
10: 62,836,106 (GRCm39) |
D345G |
probably damaging |
Het |
Shq1 |
A |
T |
6: 100,607,945 (GRCm39) |
I322N |
probably damaging |
Het |
Skint4 |
C |
A |
4: 111,944,200 (GRCm39) |
T4K |
possibly damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tbc1d5 |
A |
G |
17: 51,107,149 (GRCm39) |
I469T |
probably damaging |
Het |
Thoc3 |
T |
C |
13: 54,607,988 (GRCm39) |
R319G |
probably benign |
Het |
Tmem63a |
A |
G |
1: 180,793,348 (GRCm39) |
I507M |
probably damaging |
Het |
Usp40 |
A |
T |
1: 87,923,458 (GRCm39) |
I271N |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,858,335 (GRCm39) |
D2157G |
possibly damaging |
Het |
Vwa8 |
T |
A |
14: 79,231,899 (GRCm39) |
V586D |
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 |
IGL01872:Olfm4
|
APN |
14 |
80,259,368 (GRCm39) |
makesense |
probably null |
|
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 |
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 |
2015-12-18 |