Incidental Mutation 'R9415:Omd'
| ID |
712013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Omd
|
| Ensembl Gene |
ENSMUSG00000048368 |
| Gene Name |
osteomodulin |
| Synonyms |
osteoadherin, SLRR2C, OSAD |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R9415 (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 C
at 49745837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 416
(M416L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065706
(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: M416L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000065706
Gene: ENSMUSG00000048368
AA Change: M416L
| 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: M416L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,476,598 (GRCm39) |
M1340T |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,842,233 (GRCm39) |
L457P |
probably damaging |
Het |
| Arih2 |
A |
T |
9: 108,486,986 (GRCm39) |
C317S |
probably damaging |
Het |
| Asb14 |
A |
T |
14: 26,633,793 (GRCm39) |
T333S |
probably damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,227,821 (GRCm39) |
N1012S |
|
Het |
| Capn9 |
C |
A |
8: 125,332,449 (GRCm39) |
D429E |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cntrob |
C |
T |
11: 69,193,741 (GRCm39) |
R803Q |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,029,297 (GRCm39) |
I4089V |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,155 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,102,244 (GRCm39) |
D180G |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,723,966 (GRCm39) |
S589P |
possibly damaging |
Het |
| Jcad |
T |
C |
18: 4,673,912 (GRCm39) |
L558P |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,586 (GRCm39) |
I5170T |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,008,319 (GRCm39) |
F251L |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,802,336 (GRCm39) |
D220E |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,444,480 (GRCm39) |
F519I |
probably damaging |
Het |
| Mfap1a |
T |
C |
2: 121,337,001 (GRCm39) |
M8V |
probably benign |
Het |
| Mical3 |
T |
A |
6: 120,934,712 (GRCm39) |
D1789V |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,235,905 (GRCm39) |
Q1211* |
probably null |
Het |
| Myd88 |
A |
G |
9: 119,167,070 (GRCm39) |
|
probably null |
Het |
| Myof |
T |
A |
19: 37,941,412 (GRCm39) |
K799N |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,480,488 (GRCm39) |
T71A |
probably benign |
Het |
| Oog1 |
G |
C |
12: 87,655,086 (GRCm39) |
L411F |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,313,042 (GRCm39) |
W161R |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
| Or56a5 |
T |
G |
7: 104,793,498 (GRCm39) |
M7L |
probably benign |
Het |
| Or7e171-ps1 |
A |
G |
9: 19,853,200 (GRCm39) |
W179R |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,660,468 (GRCm39) |
Q670R |
possibly damaging |
Het |
| Pex13 |
C |
A |
11: 23,601,034 (GRCm39) |
G272V |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,824,081 (GRCm39) |
V769D |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,968,332 (GRCm39) |
Y10C |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,013,378 (GRCm39) |
H500R |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,645,882 (GRCm39) |
T496A |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,184,166 (GRCm39) |
S459G |
probably benign |
Het |
| Serpinb6b |
A |
T |
13: 33,159,002 (GRCm39) |
M187L |
|
Het |
| Shcbp1l |
A |
G |
1: 153,321,627 (GRCm39) |
I408M |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,967 (GRCm39) |
V272A |
probably damaging |
Het |
| Tlr4 |
T |
C |
4: 66,746,160 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,550,064 (GRCm39) |
N774I |
|
Het |
| Urb2 |
T |
A |
8: 124,756,613 (GRCm39) |
S773R |
possibly damaging |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,115 (GRCm39) |
V185E |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,796,527 (GRCm39) |
V3691G |
|
Het |
| Wdtc1 |
A |
G |
4: 133,022,684 (GRCm39) |
V554A |
possibly damaging |
Het |
| Xrn1 |
A |
T |
9: 95,851,527 (GRCm39) |
M182L |
probably damaging |
Het |
| Zfp747 |
T |
C |
7: 126,973,198 (GRCm39) |
H324R |
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 |
|
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 |
|
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'- ACCTTCGTGTGGACCAAAATAAGC -3'
(R):5'- GCTCTAAGCTTATGAAGTAAAGCC -3'
Sequencing Primer
(F):5'- TCGTGTGGACCAAAATAAGCTGAAAG -3'
(R):5'- GCCATTTTCACCAACATCTTAAATGC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation