Incidental Mutation 'R7971:Olfm4'
| ID |
650629 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfm4
|
| Ensembl Gene |
ENSMUSG00000022026 |
| Gene Name |
olfactomedin 4 |
| Synonyms |
GC1, OlfD, pPD4, LOC380924, LOC239192, GW112 |
| MMRRC Submission |
046014-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7971 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
80237742-80260581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80259240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 496
(M496K)
|
| 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: M496K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000086112
Gene: ENSMUSG00000022026
AA Change: M496K
| 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 |
probably damaging
Transcript: ENSMUST00000228749
AA Change: M463K
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.5817 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5530401A14Rik |
G |
A |
11: 81,754,526 (GRCm39) |
A16T |
unknown |
Het |
| Abcc1 |
T |
A |
16: 14,266,443 (GRCm39) |
D880E |
probably benign |
Het |
| Adamts2 |
G |
A |
11: 50,647,523 (GRCm39) |
V299I |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,186,578 (GRCm39) |
S1331P |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,661 (GRCm39) |
L1968S |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Cacnb2 |
A |
T |
2: 14,976,409 (GRCm39) |
M277L |
possibly damaging |
Het |
| Cd80 |
T |
A |
16: 38,294,391 (GRCm39) |
Y91* |
probably null |
Het |
| Cfap46 |
A |
G |
7: 139,215,043 (GRCm39) |
S1561P |
unknown |
Het |
| Clasp1 |
C |
T |
1: 118,449,559 (GRCm39) |
R647W |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,468,933 (GRCm39) |
V299A |
probably benign |
Het |
| Csk |
C |
A |
9: 57,535,970 (GRCm39) |
G260V |
probably benign |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dgkg |
G |
A |
16: 22,388,966 (GRCm39) |
Q403* |
probably null |
Het |
| Dnaaf2 |
T |
C |
12: 69,244,119 (GRCm39) |
D314G |
probably damaging |
Het |
| Dsp |
T |
A |
13: 38,376,499 (GRCm39) |
L1428Q |
probably damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,537,703 (GRCm39) |
V293A |
probably benign |
Het |
| Gm4353 |
C |
A |
7: 115,682,747 (GRCm39) |
S278I |
possibly damaging |
Het |
| Hmgb2 |
A |
G |
8: 57,966,168 (GRCm39) |
M75V |
possibly damaging |
Het |
| Hoxa4 |
G |
A |
6: 52,168,711 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,298,976 (GRCm39) |
W877R |
unknown |
Het |
| Ifi44 |
T |
A |
3: 151,454,857 (GRCm39) |
I123F |
possibly damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,908,353 (GRCm39) |
Y323C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,351,631 (GRCm39) |
T858A |
probably benign |
Het |
| Mest |
T |
A |
6: 30,740,734 (GRCm39) |
I38N |
|
Het |
| Npy2r |
A |
T |
3: 82,448,175 (GRCm39) |
I200N |
probably damaging |
Het |
| Olfml2a |
A |
T |
2: 38,831,794 (GRCm39) |
|
probably null |
Het |
| Omd |
A |
T |
13: 49,743,730 (GRCm39) |
H260L |
probably benign |
Het |
| Or8c16 |
G |
T |
9: 38,130,843 (GRCm39) |
L238F |
probably benign |
Het |
| Pigk |
C |
A |
3: 152,450,176 (GRCm39) |
Q274K |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,283,164 (GRCm39) |
G352R |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,423,859 (GRCm39) |
S1181N |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,079,873 (GRCm39) |
F762Y |
probably damaging |
Het |
| Rcc1l |
A |
G |
5: 134,194,208 (GRCm39) |
S250P |
probably damaging |
Het |
| Rufy1 |
A |
T |
11: 50,312,498 (GRCm39) |
F152Y |
probably damaging |
Het |
| Scaf1 |
T |
A |
7: 44,652,965 (GRCm39) |
T1179S |
unknown |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Shroom3 |
C |
T |
5: 93,098,933 (GRCm39) |
S1471L |
probably damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Slc13a4 |
A |
G |
6: 35,248,695 (GRCm39) |
L484P |
probably damaging |
Het |
| Slc35a1 |
T |
C |
4: 34,664,161 (GRCm39) |
D319G |
probably benign |
Het |
| Synm |
T |
C |
7: 67,384,983 (GRCm39) |
E893G |
possibly damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,687,235 (GRCm39) |
|
probably null |
Het |
| Thada |
T |
A |
17: 84,580,197 (GRCm39) |
D1419V |
possibly damaging |
Het |
| Tmem87b |
A |
G |
2: 128,692,250 (GRCm39) |
D535G |
probably null |
Het |
| Tnfrsf25 |
A |
C |
4: 152,204,193 (GRCm39) |
Q378P |
probably damaging |
Het |
| Trim34a |
T |
C |
7: 103,897,025 (GRCm39) |
C30R |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,643,313 (GRCm39) |
S212P |
probably damaging |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
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 |
|
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 |
|
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'- ACTCAATGACACCACTCTTGAG -3'
(R):5'- CACTCCTAGACTTCCCTGAAGC -3'
Sequencing Primer
(F):5'- CCACTCTTGAGGTGATAAGCACTTG -3'
(R):5'- GACTTCCCTGAAGCTGTCTAAATATG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation