Incidental Mutation 'R3954:Omd'
ID |
308118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Omd
|
Ensembl Gene |
ENSMUSG00000048368 |
Gene Name |
osteomodulin |
Synonyms |
osteoadherin, SLRR2C, OSAD |
MMRRC Submission |
040831-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R3954 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49735938-49746088 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 49743213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 88
(I88F)
|
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 benign
Transcript: ENSMUST00000065494
AA Change: I88F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000065706 Gene: ENSMUSG00000048368 AA Change: I88F
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 benign
Transcript: ENSMUST00000221170
AA Change: I88F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221751
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
98% (42/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
A |
G |
10: 29,100,805 (GRCm39) |
K393E |
possibly damaging |
Het |
Aagab |
A |
G |
9: 63,526,442 (GRCm39) |
E155G |
probably damaging |
Het |
Acad11 |
A |
G |
9: 103,963,351 (GRCm39) |
|
probably benign |
Het |
Adam2 |
G |
A |
14: 66,295,059 (GRCm39) |
S262L |
probably damaging |
Het |
Ankle2 |
A |
G |
5: 110,399,541 (GRCm39) |
T633A |
probably benign |
Het |
Arhgef19 |
A |
G |
4: 140,983,645 (GRCm39) |
Y726C |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
B3galnt2 |
A |
G |
13: 14,141,039 (GRCm39) |
Q87R |
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,197,390 (GRCm39) |
S1349P |
probably benign |
Het |
Cfap52 |
C |
A |
11: 67,821,691 (GRCm39) |
V446L |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,631,945 (GRCm39) |
N469D |
probably benign |
Het |
Clspn |
ACGGCGGCGGC |
A |
4: 126,460,230 (GRCm39) |
|
probably null |
Het |
Cpsf3 |
A |
G |
12: 21,363,806 (GRCm39) |
D632G |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,286,135 (GRCm39) |
|
probably null |
Het |
Dennd5a |
A |
G |
7: 109,504,906 (GRCm39) |
M868T |
probably benign |
Het |
Dlg1 |
T |
C |
16: 31,676,826 (GRCm39) |
Y792H |
probably damaging |
Het |
Dusp13b |
T |
A |
14: 21,790,175 (GRCm39) |
D57V |
probably damaging |
Het |
Galnt6 |
A |
G |
15: 100,595,049 (GRCm39) |
V484A |
possibly damaging |
Het |
Hbq1a |
T |
C |
11: 32,250,214 (GRCm39) |
|
probably null |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Igkv4-79 |
A |
G |
6: 69,020,229 (GRCm39) |
S29P |
possibly damaging |
Het |
Lamp5 |
G |
A |
2: 135,902,928 (GRCm39) |
D216N |
probably damaging |
Het |
Me2 |
A |
G |
18: 73,914,203 (GRCm39) |
F443L |
probably damaging |
Het |
Ncam2 |
G |
A |
16: 81,386,612 (GRCm39) |
V664M |
probably damaging |
Het |
Ndst4 |
T |
C |
3: 125,231,554 (GRCm39) |
M41T |
probably benign |
Het |
Nkx6-3 |
G |
T |
8: 23,643,742 (GRCm39) |
A48S |
possibly damaging |
Het |
Ntng2 |
A |
G |
2: 29,097,547 (GRCm39) |
C305R |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,100,361 (GRCm39) |
R1462S |
possibly damaging |
Het |
Odad1 |
A |
G |
7: 45,591,100 (GRCm39) |
K192E |
probably damaging |
Het |
Or51f1 |
A |
G |
7: 102,505,824 (GRCm39) |
C222R |
probably damaging |
Het |
Pi4k2a |
G |
A |
19: 42,104,338 (GRCm39) |
A367T |
probably damaging |
Het |
Pramel30 |
A |
C |
4: 144,058,238 (GRCm39) |
M282L |
probably benign |
Het |
Prph2 |
T |
C |
17: 47,221,644 (GRCm39) |
F8L |
probably benign |
Het |
Qng1 |
A |
G |
13: 58,532,203 (GRCm39) |
S118P |
probably damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,130,974 (GRCm39) |
S696P |
probably damaging |
Het |
Slc26a1 |
T |
C |
5: 108,821,448 (GRCm39) |
D147G |
possibly damaging |
Het |
Tec |
T |
C |
5: 72,939,520 (GRCm39) |
|
probably null |
Het |
Tmem131l |
C |
A |
3: 83,817,726 (GRCm39) |
C1257F |
probably damaging |
Het |
Trim30d |
C |
T |
7: 104,121,728 (GRCm39) |
G339D |
probably damaging |
Het |
Ttc6 |
T |
C |
12: 57,744,238 (GRCm39) |
V1290A |
probably benign |
Het |
Vmn1r124 |
A |
G |
7: 20,994,448 (GRCm39) |
V32A |
possibly damaging |
Het |
Zc3h13 |
T |
A |
14: 75,567,178 (GRCm39) |
S921T |
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 |
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 |
R6704:Omd
|
UTSW |
13 |
49,743,349 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GACGATTATGACCAAGAGCCAAATG -3'
(R):5'- CCCGTCCATGGCATTTGTTG -3'
Sequencing Primer
(F):5'- CCAAGAGCCAAATGAGGATTATGATC -3'
(R):5'- CATTATAACCAAGAAGGAGTCTTTCC -3'
|
Posted On |
2015-04-17 |