Incidental Mutation 'R5232:Olfm4'
ID |
398647 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olfm4
|
Ensembl Gene |
ENSMUSG00000022026 |
Gene Name |
olfactomedin 4 |
Synonyms |
GC1, OlfD, pPD4, LOC380924, LOC239192, GW112 |
MMRRC Submission |
042804-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R5232 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
80237742-80260581 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80259122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 424
(N424D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154285
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088735]
[ENSMUST00000228749]
|
AlphaFold |
Q3UZZ4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000088735
AA Change: N457D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000086112 Gene: ENSMUSG00000022026 AA Change: N457D
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: N424D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
T |
C |
16: 20,157,672 (GRCm39) |
E1295G |
probably damaging |
Het |
Adarb2 |
C |
A |
13: 8,763,676 (GRCm39) |
H524Q |
possibly damaging |
Het |
Arhgap26 |
A |
G |
18: 39,126,529 (GRCm39) |
M1V |
probably null |
Het |
Atp10b |
G |
A |
11: 43,093,006 (GRCm39) |
R447H |
probably damaging |
Het |
B4galnt3 |
T |
A |
6: 120,209,949 (GRCm39) |
Y58F |
probably damaging |
Het |
Cdca7l |
A |
G |
12: 117,833,820 (GRCm39) |
E79G |
probably damaging |
Het |
Chd4 |
C |
G |
6: 125,098,273 (GRCm39) |
P350A |
probably damaging |
Het |
Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,483,013 (GRCm39) |
C244* |
probably null |
Het |
Cyfip2 |
A |
G |
11: 46,133,205 (GRCm39) |
S832P |
probably damaging |
Het |
Dnaaf1 |
A |
C |
8: 120,317,329 (GRCm39) |
E286A |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,074,323 (GRCm39) |
K188R |
probably benign |
Het |
Fstl5 |
T |
C |
3: 76,052,284 (GRCm39) |
W5R |
possibly damaging |
Het |
Gm5565 |
T |
A |
5: 146,096,947 (GRCm39) |
Y64F |
possibly damaging |
Het |
Golga4 |
G |
A |
9: 118,335,626 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
T |
C |
2: 31,347,760 (GRCm39) |
L4802P |
probably damaging |
Het |
Hnrnpll |
C |
T |
17: 80,346,107 (GRCm39) |
V385I |
probably damaging |
Het |
Kctd9 |
A |
T |
14: 67,962,110 (GRCm39) |
D51V |
probably damaging |
Het |
Lcn9 |
T |
C |
2: 25,714,067 (GRCm39) |
|
probably null |
Het |
Map1a |
C |
A |
2: 121,132,466 (GRCm39) |
P856H |
probably damaging |
Het |
Myo5b |
G |
C |
18: 74,848,003 (GRCm39) |
E1080D |
probably damaging |
Het |
Naglu |
T |
C |
11: 100,960,976 (GRCm39) |
I9T |
probably benign |
Het |
Ndst3 |
A |
T |
3: 123,465,888 (GRCm39) |
I28N |
probably damaging |
Het |
Or11g26 |
T |
A |
14: 50,753,495 (GRCm39) |
V278E |
probably damaging |
Het |
Or4n5 |
A |
G |
14: 50,133,155 (GRCm39) |
Y35H |
probably damaging |
Het |
Phf13 |
T |
C |
4: 152,076,680 (GRCm39) |
T171A |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,986,317 (GRCm39) |
V605A |
probably benign |
Het |
Polr3a |
A |
T |
14: 24,503,279 (GRCm39) |
M1185K |
probably benign |
Het |
Pramel7 |
A |
T |
2: 87,320,320 (GRCm39) |
H324Q |
probably damaging |
Het |
Prpf4b |
T |
A |
13: 35,067,573 (GRCm39) |
|
probably benign |
Het |
Pxdn |
C |
T |
12: 30,040,987 (GRCm39) |
T421I |
probably benign |
Het |
Sertad2 |
C |
T |
11: 20,598,344 (GRCm39) |
T180I |
possibly damaging |
Het |
Sgo2b |
C |
A |
8: 64,381,636 (GRCm39) |
A399S |
possibly damaging |
Het |
Skint5 |
T |
C |
4: 113,434,841 (GRCm39) |
K1043E |
unknown |
Het |
Slc22a27 |
C |
G |
19: 7,843,303 (GRCm39) |
A359P |
probably damaging |
Het |
Spock3 |
T |
C |
8: 63,798,843 (GRCm39) |
F288S |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,676,816 (GRCm39) |
I393V |
probably benign |
Het |
Taf6 |
T |
C |
5: 138,178,214 (GRCm39) |
K429R |
possibly damaging |
Het |
Vav1 |
T |
C |
17: 57,610,846 (GRCm39) |
F447L |
possibly damaging |
Het |
Vmn2r19 |
T |
C |
6: 123,312,916 (GRCm39) |
M662T |
probably benign |
Het |
Zfp541 |
A |
G |
7: 15,829,104 (GRCm39) |
Y1152C |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGCTGCCTACAATAATCGC -3'
(R):5'- CTGGGCGTCTGTAAGAAGAC -3'
Sequencing Primer
(F):5'- GCCTACAATAATCGCTTCTCATATG -3'
(R):5'- AGACATAAAGTTTTTGGTCAAAGGG -3'
|
Posted On |
2016-07-06 |