Incidental Mutation 'R6960:Olfm4'
ID |
541724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olfm4
|
Ensembl Gene |
ENSMUSG00000022026 |
Gene Name |
olfactomedin 4 |
Synonyms |
GC1, OlfD, pPD4, LOC380924, LOC239192, GW112 |
MMRRC Submission |
045070-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6960 (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 C
at 80258754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 301
(L301S)
|
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: L334S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000086112 Gene: ENSMUSG00000022026 AA Change: L334S
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: L301S
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
Validation Efficiency |
98% (50/51) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,072,924 (GRCm39) |
D1170G |
probably benign |
Het |
Ak7 |
A |
T |
12: 105,676,503 (GRCm39) |
T68S |
probably benign |
Het |
Arhgap12 |
A |
T |
18: 6,111,901 (GRCm39) |
N26K |
probably damaging |
Het |
B3galt1 |
A |
T |
2: 67,949,033 (GRCm39) |
E249D |
probably damaging |
Het |
Catsper4 |
T |
A |
4: 133,954,648 (GRCm39) |
M1L |
probably benign |
Het |
Cc2d2b |
T |
C |
19: 40,773,506 (GRCm39) |
V523A |
possibly damaging |
Het |
Ccn4 |
C |
T |
15: 66,791,047 (GRCm39) |
T283M |
probably benign |
Het |
Cyp11a1 |
T |
C |
9: 57,925,659 (GRCm39) |
F98S |
probably damaging |
Het |
Cyp2d26 |
T |
C |
15: 82,674,446 (GRCm39) |
S479G |
probably damaging |
Het |
Dclre1a |
T |
G |
19: 56,531,141 (GRCm39) |
Y735S |
probably damaging |
Het |
Dio2 |
C |
T |
12: 90,696,671 (GRCm39) |
G106R |
probably damaging |
Het |
Efcab12 |
T |
C |
6: 115,815,273 (GRCm39) |
|
probably benign |
Het |
Ehhadh |
C |
A |
16: 21,581,028 (GRCm39) |
V655L |
probably benign |
Het |
Ercc2 |
G |
A |
7: 19,127,615 (GRCm39) |
R379Q |
probably damaging |
Het |
Fabp4 |
A |
G |
3: 10,273,537 (GRCm39) |
V12A |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,223,980 (GRCm39) |
I590V |
probably benign |
Het |
Grm8 |
C |
A |
6: 27,981,281 (GRCm39) |
V210L |
probably damaging |
Het |
Jakmip3 |
A |
G |
7: 138,625,065 (GRCm39) |
D359G |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,136,749 (GRCm39) |
Y1493N |
probably benign |
Het |
Lyst |
A |
G |
13: 13,808,663 (GRCm39) |
N111S |
probably benign |
Het |
Lyz2 |
G |
C |
10: 117,114,607 (GRCm39) |
I107M |
possibly damaging |
Het |
Mgat5 |
A |
T |
1: 127,248,371 (GRCm39) |
D91V |
possibly damaging |
Het |
Mical3 |
T |
A |
6: 120,935,504 (GRCm39) |
D1674V |
probably damaging |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Naa16 |
A |
G |
14: 79,596,911 (GRCm39) |
Y358H |
possibly damaging |
Het |
Nktr |
T |
A |
9: 121,571,758 (GRCm39) |
H226Q |
probably damaging |
Het |
Ocln |
T |
G |
13: 100,635,380 (GRCm39) |
K503T |
possibly damaging |
Het |
Or4f4b |
G |
A |
2: 111,314,071 (GRCm39) |
V127I |
possibly damaging |
Het |
Or6c74 |
T |
C |
10: 129,869,972 (GRCm39) |
L159P |
probably benign |
Het |
Paqr4 |
G |
A |
17: 23,956,697 (GRCm39) |
A222V |
probably benign |
Het |
Pcdhb13 |
A |
G |
18: 37,576,509 (GRCm39) |
T296A |
probably benign |
Het |
Phka2 |
G |
A |
X: 159,316,044 (GRCm39) |
V230I |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,474,707 (GRCm39) |
V309A |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,264,196 (GRCm39) |
R462G |
probably benign |
Het |
Ptprc |
C |
T |
1: 138,006,183 (GRCm39) |
|
probably null |
Het |
Rabggta |
A |
C |
14: 55,959,299 (GRCm39) |
|
probably null |
Het |
Rnf25 |
A |
G |
1: 74,634,403 (GRCm39) |
S207P |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rtf1 |
A |
G |
2: 119,541,559 (GRCm39) |
Q264R |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,816,129 (GRCm39) |
V619A |
probably benign |
Het |
Serpinb6d |
A |
G |
13: 33,855,181 (GRCm39) |
N285S |
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,745,320 (GRCm39) |
M16V |
probably damaging |
Het |
Slc22a23 |
A |
G |
13: 34,528,140 (GRCm39) |
|
probably null |
Het |
Slc23a2 |
T |
C |
2: 131,933,173 (GRCm39) |
D95G |
probably damaging |
Het |
Smc3 |
T |
C |
19: 53,617,802 (GRCm39) |
Y600H |
probably damaging |
Het |
Tarbp1 |
G |
A |
8: 127,155,778 (GRCm39) |
T1320M |
possibly damaging |
Het |
Tigd4 |
A |
T |
3: 84,501,423 (GRCm39) |
K113N |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,952,763 (GRCm39) |
F1444I |
possibly damaging |
Het |
Tstd3 |
A |
T |
4: 21,767,118 (GRCm39) |
M1K |
probably null |
Het |
Zbtb46 |
T |
C |
2: 181,065,217 (GRCm39) |
D311G |
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 |
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 |
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'- ACATCAGCGCTCCTTCTGTG -3'
(R):5'- AGCAAGGTCAATGTCTTGCC -3'
Sequencing Primer
(F):5'- AGCGCTCCTTCTGTGATTCAG -3'
(R):5'- GCAAGGTCAATGTCTTGCCAATTC -3'
|
Posted On |
2018-11-28 |