Incidental Mutation 'R1428:Olfm4'
| ID |
161409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Olfm4
|
| Ensembl Gene |
ENSMUSG00000022026 |
| Gene Name |
olfactomedin 4 |
| Synonyms |
GC1, OlfD, pPD4, LOC380924, LOC239192, GW112 |
| MMRRC Submission |
039484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R1428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
80237742-80260581 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80258843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 331
(Y331N)
|
| 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: Y364N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086112
Gene: ENSMUSG00000022026
AA Change: Y364N
| 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: Y331N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9345 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.2%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| Abl1 |
G |
T |
2: 31,691,822 (GRCm39) |
A1114S |
probably damaging |
Het |
| Acbd5 |
T |
C |
2: 22,989,733 (GRCm39) |
V452A |
probably damaging |
Het |
| Armc12 |
A |
G |
17: 28,756,910 (GRCm39) |
D225G |
probably damaging |
Het |
| Atad3a |
T |
A |
4: 155,840,139 (GRCm39) |
Q121H |
probably damaging |
Het |
| Atosa |
A |
T |
9: 74,913,603 (GRCm39) |
T79S |
probably benign |
Het |
| Bptf |
T |
A |
11: 106,963,873 (GRCm39) |
I1711F |
probably damaging |
Het |
| C2cd4c |
A |
T |
10: 79,448,064 (GRCm39) |
I361N |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,199,221 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
C |
T |
13: 74,505,034 (GRCm39) |
T194I |
probably benign |
Het |
| Cdc42ep3 |
T |
C |
17: 79,642,465 (GRCm39) |
K152E |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,181,204 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,248,853 (GRCm39) |
Y1801N |
possibly damaging |
Het |
| Crybg1 |
T |
C |
10: 43,851,074 (GRCm39) |
N1599S |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,228,548 (GRCm39) |
V59A |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,183,117 (GRCm39) |
K484E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,411,193 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,005,642 (GRCm39) |
S711P |
probably damaging |
Het |
| Espl1 |
A |
T |
15: 102,214,120 (GRCm39) |
Q649L |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,374,638 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,186,913 (GRCm39) |
Y1311F |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,687 (GRCm39) |
H675L |
possibly damaging |
Het |
| Gins4 |
T |
C |
8: 23,717,144 (GRCm39) |
Y208C |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 37,910,937 (GRCm39) |
V17A |
probably benign |
Het |
| Gykl1 |
A |
T |
18: 52,827,833 (GRCm39) |
K347I |
probably benign |
Het |
| Helz |
T |
A |
11: 107,483,666 (GRCm39) |
|
probably benign |
Het |
| Hivep3 |
C |
T |
4: 119,953,772 (GRCm39) |
T696I |
possibly damaging |
Het |
| Ifi27l2a |
G |
T |
12: 103,409,093 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,944,987 (GRCm39) |
|
probably benign |
Het |
| Kpna3 |
C |
T |
14: 61,620,669 (GRCm39) |
|
probably benign |
Het |
| Mmp15 |
C |
G |
8: 96,096,190 (GRCm39) |
P327R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,320,074 (GRCm39) |
T1003S |
probably benign |
Het |
| Mtss1 |
T |
C |
15: 58,819,239 (GRCm39) |
D393G |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,468,167 (GRCm39) |
N65Y |
probably damaging |
Het |
| Or4c12b |
G |
C |
2: 89,646,725 (GRCm39) |
L12F |
probably damaging |
Het |
| P2rx3 |
G |
C |
2: 84,855,294 (GRCm39) |
T54R |
possibly damaging |
Het |
| Pacsin1 |
C |
T |
17: 27,924,937 (GRCm39) |
T217I |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,308,155 (GRCm39) |
|
probably null |
Het |
| Pknox1 |
T |
C |
17: 31,811,066 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,422,256 (GRCm39) |
R70G |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,980,101 (GRCm39) |
A340T |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,485,983 (GRCm39) |
W205R |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,530,923 (GRCm39) |
T936M |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,793 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
A |
G |
2: 148,238,279 (GRCm39) |
S297G |
probably benign |
Het |
| Timm8a1 |
C |
T |
X: 133,438,872 (GRCm39) |
E93K |
probably benign |
Het |
| Uck1 |
A |
C |
2: 32,148,367 (GRCm39) |
Y150D |
probably damaging |
Het |
| Yipf4 |
A |
G |
17: 74,805,300 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTGGCGTGGTGAACATCAG -3'
(R):5'- TGCTCATCCACAGCAAGGTCAATG -3'
Sequencing Primer
(F):5'- TGTGATTCAGCTCAACTGGC -3'
(R):5'- AGGTCAATGTCTTGCCAATTCAC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation