Incidental Mutation 'R6704:Omd'
ID |
528871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Omd
|
Ensembl Gene |
ENSMUSG00000048368 |
Gene Name |
osteomodulin |
Synonyms |
osteoadherin, SLRR2C, OSAD |
MMRRC Submission |
044822-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R6704 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
49735938-49746088 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49743349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 133
(D133G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152066
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021818]
[ENSMUST00000065494]
[ENSMUST00000221170]
|
AlphaFold |
O35103 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021818
|
SMART Domains |
Protein: ENSMUSP00000021818 Gene: ENSMUSG00000021391
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
34 |
N/A |
INTRINSIC |
Pfam:CENP-P
|
102 |
278 |
3.9e-89 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065494
AA Change: D133G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000065706 Gene: ENSMUSG00000048368 AA Change: D133G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
LRRNT
|
61 |
95 |
3.14e-11 |
SMART |
LRR
|
115 |
139 |
2.15e2 |
SMART |
LRR
|
140 |
160 |
2.2e1 |
SMART |
LRR
|
162 |
184 |
4.21e1 |
SMART |
LRR
|
185 |
210 |
1.01e2 |
SMART |
LRR
|
211 |
234 |
6.96e0 |
SMART |
LRR
|
235 |
255 |
8.49e1 |
SMART |
LRR
|
256 |
279 |
1.76e-1 |
SMART |
LRR
|
300 |
322 |
7.8e1 |
SMART |
Blast:LRR
|
330 |
353 |
6e-8 |
BLAST |
low complexity region
|
385 |
391 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221170
AA Change: D133G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221751
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous mutation of this gene results in impaired cued contextual conditioning behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
T |
C |
12: 8,060,379 (GRCm39) |
S2921P |
probably damaging |
Het |
Asxl3 |
G |
A |
18: 22,650,362 (GRCm39) |
A784T |
probably benign |
Het |
Atm |
T |
C |
9: 53,370,153 (GRCm39) |
I2320V |
probably benign |
Het |
Ccdc152 |
T |
A |
15: 3,310,195 (GRCm39) |
I227F |
probably damaging |
Het |
Cd109 |
T |
C |
9: 78,587,357 (GRCm39) |
V675A |
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,386,892 (GRCm39) |
Y235H |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,889,652 (GRCm39) |
D705G |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Ermn |
T |
C |
2: 57,938,046 (GRCm39) |
D189G |
possibly damaging |
Het |
Evx2 |
C |
A |
2: 74,486,499 (GRCm39) |
A297S |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,477,410 (GRCm39) |
F2152S |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 7,990,642 (GRCm39) |
V1018A |
unknown |
Het |
Hyou1 |
T |
C |
9: 44,292,431 (GRCm39) |
|
probably null |
Het |
Kcnma1 |
G |
A |
14: 24,052,882 (GRCm39) |
Q187* |
probably null |
Het |
Macf1 |
C |
T |
4: 123,304,555 (GRCm39) |
|
probably benign |
Het |
Mcam |
T |
A |
9: 44,048,217 (GRCm39) |
D124E |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,986,761 (GRCm39) |
|
probably benign |
Het |
Mlxipl |
A |
T |
5: 135,166,094 (GRCm39) |
|
probably null |
Het |
Myt1 |
A |
G |
2: 181,453,005 (GRCm39) |
M1V |
probably null |
Het |
Nlrc3 |
C |
T |
16: 3,782,945 (GRCm39) |
V155I |
probably damaging |
Het |
Nlrp2 |
A |
C |
7: 5,328,040 (GRCm39) |
L671* |
probably null |
Het |
Or5h19 |
T |
C |
16: 58,856,225 (GRCm39) |
R292G |
probably damaging |
Het |
Or9r7 |
T |
A |
10: 129,962,024 (GRCm39) |
K301* |
probably null |
Het |
Pappa |
G |
A |
4: 65,123,161 (GRCm39) |
C832Y |
probably damaging |
Het |
Pcnx3 |
A |
T |
19: 5,736,515 (GRCm39) |
V174E |
possibly damaging |
Het |
Pfkl |
C |
T |
10: 77,832,200 (GRCm39) |
G297D |
probably damaging |
Het |
Polr3a |
A |
G |
14: 24,511,910 (GRCm39) |
L882P |
probably damaging |
Het |
Ptchd4 |
A |
G |
17: 42,627,931 (GRCm39) |
T131A |
probably benign |
Het |
Rad50 |
T |
C |
11: 53,589,745 (GRCm39) |
N152S |
probably damaging |
Het |
Ruvbl1 |
T |
A |
6: 88,456,187 (GRCm39) |
M147K |
probably benign |
Het |
Septin4 |
T |
A |
11: 87,479,856 (GRCm39) |
I277N |
probably damaging |
Het |
Serpini1 |
T |
C |
3: 75,545,255 (GRCm39) |
V337A |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,835,261 (GRCm39) |
V1620A |
possibly damaging |
Het |
Tpr |
A |
G |
1: 150,282,259 (GRCm39) |
E248G |
possibly damaging |
Het |
Ugt2b36 |
C |
A |
5: 87,239,990 (GRCm39) |
V132F |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,621,035 (GRCm39) |
E212G |
probably damaging |
Het |
Zc2hc1c |
A |
T |
12: 85,337,258 (GRCm39) |
Q305L |
possibly damaging |
Het |
|
Other mutations in Omd |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01976:Omd
|
APN |
13 |
49,743,119 (GRCm39) |
nonsense |
probably null |
|
IGL01982:Omd
|
APN |
13 |
49,742,973 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02678:Omd
|
APN |
13 |
49,745,757 (GRCm39) |
missense |
probably benign |
0.37 |
IGL03069:Omd
|
APN |
13 |
49,745,870 (GRCm39) |
utr 3 prime |
probably benign |
|
R1036:Omd
|
UTSW |
13 |
49,743,447 (GRCm39) |
missense |
probably damaging |
1.00 |
R3954:Omd
|
UTSW |
13 |
49,743,213 (GRCm39) |
missense |
probably benign |
0.00 |
R4030:Omd
|
UTSW |
13 |
49,743,125 (GRCm39) |
missense |
probably benign |
0.08 |
R4335:Omd
|
UTSW |
13 |
49,743,712 (GRCm39) |
missense |
probably benign |
0.02 |
R5095:Omd
|
UTSW |
13 |
49,743,174 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5137:Omd
|
UTSW |
13 |
49,743,552 (GRCm39) |
missense |
probably benign |
0.05 |
R5400:Omd
|
UTSW |
13 |
49,745,703 (GRCm39) |
missense |
probably benign |
0.37 |
R5596:Omd
|
UTSW |
13 |
49,745,814 (GRCm39) |
missense |
probably benign |
0.16 |
R5930:Omd
|
UTSW |
13 |
49,743,112 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6132:Omd
|
UTSW |
13 |
49,743,843 (GRCm39) |
missense |
probably damaging |
0.97 |
R6294:Omd
|
UTSW |
13 |
49,743,467 (GRCm39) |
missense |
probably damaging |
1.00 |
R6454:Omd
|
UTSW |
13 |
49,743,345 (GRCm39) |
missense |
probably damaging |
0.99 |
R6680:Omd
|
UTSW |
13 |
49,743,004 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6932:Omd
|
UTSW |
13 |
49,743,710 (GRCm39) |
missense |
probably damaging |
1.00 |
R7427:Omd
|
UTSW |
13 |
49,745,745 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7884:Omd
|
UTSW |
13 |
49,743,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R7971:Omd
|
UTSW |
13 |
49,743,730 (GRCm39) |
missense |
probably benign |
0.00 |
R8129:Omd
|
UTSW |
13 |
49,745,565 (GRCm39) |
missense |
probably damaging |
0.99 |
R8399:Omd
|
UTSW |
13 |
49,743,345 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8914:Omd
|
UTSW |
13 |
49,745,718 (GRCm39) |
missense |
probably damaging |
1.00 |
R8959:Omd
|
UTSW |
13 |
49,745,790 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8984:Omd
|
UTSW |
13 |
49,743,576 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9415:Omd
|
UTSW |
13 |
49,745,837 (GRCm39) |
missense |
probably benign |
|
R9718:Omd
|
UTSW |
13 |
49,743,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R9723:Omd
|
UTSW |
13 |
49,743,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCTAAGGAATGCTTCTGTCCAAC -3'
(R):5'- TATAGCAGAGGTCAAGCATAGTCAC -3'
Sequencing Primer
(F):5'- CTTTCCAACATCAATGTACTGTGAC -3'
(R):5'- GAGGTCAAGCATAGTCACATTCAC -3'
|
Posted On |
2018-07-24 |