Incidental Mutation 'R1036:Omd'
ID |
93813 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Omd
|
Ensembl Gene |
ENSMUSG00000048368 |
Gene Name |
osteomodulin |
Synonyms |
osteoadherin, SLRR2C, OSAD |
MMRRC Submission |
039135-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R1036 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
49735938-49746088 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 49743447 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 166
(R166G)
|
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: R166G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000065706 Gene: ENSMUSG00000048368 AA Change: R166G
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: R166G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221751
|
Meta Mutation Damage Score |
0.2105 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
Validation Efficiency |
100% (40/40) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
Shkbp1 |
A |
G |
7: 27,044,721 (GRCm39) |
S457P |
possibly damaging |
Het |
Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
probably benign |
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 |
|
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 |
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'- CCGATGGGATGACGATTATGACCAAG -3'
(R):5'- AGGCAATCCAAGGGGCATTGATTC -3'
Sequencing Primer
(F):5'- GCTAAGGAATGCTTCTGTCCAAC -3'
(R):5'- CCAAGGGGCATTGATTCTAATCTG -3'
|
Posted On |
2014-01-05 |