Incidental Mutation 'R4335:Omd'
ID |
323749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Omd
|
Ensembl Gene |
ENSMUSG00000048368 |
Gene Name |
osteomodulin |
Synonyms |
osteoadherin, SLRR2C, OSAD |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R4335 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
49735938-49746088 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 49743712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 254
(D254A)
|
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: D254A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000065706 Gene: ENSMUSG00000048368 AA Change: D254A
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: D254A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221751
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
G |
A |
11: 110,042,843 (GRCm39) |
T402M |
probably damaging |
Het |
Apbb1ip |
G |
A |
2: 22,761,574 (GRCm39) |
|
probably null |
Het |
Armh1 |
A |
T |
4: 117,071,660 (GRCm39) |
I308N |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,486,054 (GRCm39) |
R517Q |
probably benign |
Het |
Clic4 |
C |
T |
4: 134,945,916 (GRCm39) |
S167N |
probably benign |
Het |
Ehbp1l1 |
A |
T |
19: 5,758,797 (GRCm39) |
L1644Q |
probably damaging |
Het |
Erh |
A |
G |
12: 80,689,615 (GRCm39) |
L3P |
probably benign |
Het |
Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
Fsd2 |
A |
T |
7: 81,191,813 (GRCm39) |
S521R |
probably damaging |
Het |
Garin2 |
T |
C |
12: 78,759,006 (GRCm39) |
S109P |
possibly damaging |
Het |
Hace1 |
A |
G |
10: 45,586,057 (GRCm39) |
Y865C |
probably damaging |
Het |
Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
Iqcf1 |
G |
A |
9: 106,379,072 (GRCm39) |
R62H |
possibly damaging |
Het |
Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
Leng8 |
T |
C |
7: 4,150,037 (GRCm39) |
Y781H |
probably damaging |
Het |
Med8 |
G |
T |
4: 118,266,567 (GRCm39) |
|
probably null |
Het |
Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
Nat8f2 |
A |
G |
6: 85,845,233 (GRCm39) |
L43P |
probably damaging |
Het |
Psd2 |
G |
T |
18: 36,140,583 (GRCm39) |
A622S |
probably damaging |
Het |
Rnf207 |
G |
A |
4: 152,400,062 (GRCm39) |
|
probably benign |
Het |
Rsbn1l |
T |
C |
5: 21,113,191 (GRCm39) |
I444V |
probably null |
Het |
Rxfp1 |
A |
G |
3: 79,594,105 (GRCm39) |
|
probably null |
Het |
Selenot |
C |
A |
3: 58,492,722 (GRCm39) |
R70S |
possibly damaging |
Het |
Sox6 |
A |
G |
7: 115,111,959 (GRCm39) |
S557P |
probably benign |
Het |
Sp9 |
G |
A |
2: 73,104,633 (GRCm39) |
V396M |
probably damaging |
Het |
Ston1 |
T |
C |
17: 88,943,125 (GRCm39) |
F177S |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,074,866 (GRCm39) |
E4602G |
probably damaging |
Het |
Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
Tsga13 |
T |
C |
6: 30,876,980 (GRCm39) |
D179G |
probably damaging |
Het |
Wdr27 |
T |
A |
17: 15,141,018 (GRCm39) |
|
probably null |
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 |
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'- TGACTATGCTTGACCTCTGC -3'
(R):5'- CCATTCTTTCATCAGACATGTTGG -3'
Sequencing Primer
(F):5'- GACTATGCTTGACCTCTGCTATAATC -3'
(R):5'- GTGTCCAACGTTGAGTTCTA -3'
|
Posted On |
2015-06-24 |