Incidental Mutation 'R0879:Oxnad1'
| ID |
81941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oxnad1
|
| Ensembl Gene |
ENSMUSG00000021906 |
| Gene Name |
oxidoreductase NAD-binding domain containing 1 |
| Synonyms |
2410002F01Rik |
| MMRRC Submission |
039046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R0879 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
31807331-31825159 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 31821553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 213
(Y213N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022462]
[ENSMUST00000164868]
[ENSMUST00000165523]
[ENSMUST00000168986]
[ENSMUST00000169649]
[ENSMUST00000171598]
[ENSMUST00000227845]
[ENSMUST00000170600]
|
| AlphaFold |
Q8VE38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022462
AA Change: Y213N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022462
Gene: ENSMUSG00000021906
AA Change: Y213N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_6
|
168 |
269 |
6.5e-9 |
PFAM |
|
Pfam:NAD_binding_1
|
173 |
293 |
8.1e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164396
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164868
|
| SMART Domains |
Protein: ENSMUSP00000125791
Gene: ENSMUSG00000021906
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ep3b1
|
65 |
149 |
1e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168986
|
| SMART Domains |
Protein: ENSMUSP00000126372
Gene: ENSMUSG00000021906
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ep3b1
|
65 |
130 |
3e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169078
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169649
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171598
|
| SMART Domains |
Protein: ENSMUSP00000132162
Gene: ENSMUSG00000021906
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ep3b1
|
65 |
115 |
4e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227845
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170519
|
| SMART Domains |
Protein: ENSMUSP00000132560
Gene: ENSMUSG00000021906
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ep3b1
|
2 |
78 |
8e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170600
|
| SMART Domains |
Protein: ENSMUSP00000130998
Gene: ENSMUSG00000021906
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ep3b1
|
65 |
143 |
3e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.9555 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.9%
- 20x: 96.3%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,524,892 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,559 (GRCm39) |
D25G |
possibly damaging |
Het |
| Adprs |
C |
T |
4: 126,210,410 (GRCm39) |
V357I |
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,927,582 (GRCm39) |
R164L |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,173 (GRCm39) |
N972S |
probably damaging |
Het |
| Brd2 |
A |
T |
17: 34,332,420 (GRCm39) |
V232D |
probably benign |
Het |
| C6 |
A |
G |
15: 4,792,818 (GRCm39) |
|
probably benign |
Het |
| Ceacam5 |
A |
C |
7: 17,491,627 (GRCm39) |
I666L |
probably benign |
Het |
| Col7a1 |
T |
C |
9: 108,805,159 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
C |
T |
11: 117,947,661 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,467,019 (GRCm39) |
V3615E |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,800,816 (GRCm39) |
|
probably null |
Het |
| Enpp2 |
T |
C |
15: 54,741,326 (GRCm39) |
E324G |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,295,313 (GRCm39) |
V222A |
probably damaging |
Het |
| Gm4076 |
A |
G |
13: 85,275,326 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4775 |
T |
C |
14: 106,338,227 (GRCm39) |
|
noncoding transcript |
Het |
| Igsf9b |
T |
C |
9: 27,245,038 (GRCm39) |
S1002P |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,942,001 (GRCm39) |
S244P |
possibly damaging |
Het |
| Klhl41 |
A |
T |
2: 69,513,827 (GRCm39) |
|
probably benign |
Het |
| Ltbr |
A |
G |
6: 125,290,338 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,037,896 (GRCm39) |
E804G |
possibly damaging |
Het |
| Mybpc1 |
G |
A |
10: 88,407,378 (GRCm39) |
|
probably benign |
Het |
| Npas4 |
T |
C |
19: 5,036,944 (GRCm39) |
R407G |
probably benign |
Het |
| Pde6d |
A |
G |
1: 86,473,523 (GRCm39) |
F91S |
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,286,123 (GRCm39) |
|
probably benign |
Het |
| Plscr2 |
T |
C |
9: 92,169,846 (GRCm39) |
Y99H |
probably damaging |
Het |
| Rft1 |
T |
C |
14: 30,404,705 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,860,588 (GRCm39) |
Y30C |
probably benign |
Het |
| Selenbp2 |
A |
G |
3: 94,606,863 (GRCm39) |
T108A |
possibly damaging |
Het |
| Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
| Stra6 |
T |
C |
9: 58,042,487 (GRCm39) |
|
probably null |
Het |
| Usp17le |
A |
T |
7: 104,418,854 (GRCm39) |
L96Q |
probably damaging |
Het |
| Usp17le |
G |
T |
7: 104,418,855 (GRCm39) |
L96M |
possibly damaging |
Het |
| Vmn1r76 |
A |
T |
7: 11,664,662 (GRCm39) |
I184N |
probably benign |
Het |
| Vmn2r102 |
T |
C |
17: 19,914,454 (GRCm39) |
V673A |
probably damaging |
Het |
| Wdr17 |
T |
G |
8: 55,114,516 (GRCm39) |
I667L |
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,811,218 (GRCm39) |
T609A |
probably benign |
Het |
| Zfp821 |
T |
C |
8: 110,448,474 (GRCm39) |
I135T |
possibly damaging |
Het |
| Zfp865 |
A |
G |
7: 5,034,342 (GRCm39) |
T776A |
probably benign |
Het |
| Zp2 |
G |
T |
7: 119,734,757 (GRCm39) |
P477Q |
probably damaging |
Het |
|
| Other mutations in Oxnad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0480:Oxnad1
|
UTSW |
14 |
31,821,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Oxnad1
|
UTSW |
14 |
31,821,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1526:Oxnad1
|
UTSW |
14 |
31,824,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4649:Oxnad1
|
UTSW |
14 |
31,824,366 (GRCm39) |
makesense |
probably null |
|
|
R4703:Oxnad1
|
UTSW |
14 |
31,817,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6411:Oxnad1
|
UTSW |
14 |
31,813,609 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6980:Oxnad1
|
UTSW |
14 |
31,807,576 (GRCm39) |
unclassified |
probably benign |
|
|
R7117:Oxnad1
|
UTSW |
14 |
31,813,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7167:Oxnad1
|
UTSW |
14 |
31,822,976 (GRCm39) |
nonsense |
probably null |
|
|
R7197:Oxnad1
|
UTSW |
14 |
31,818,473 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7707:Oxnad1
|
UTSW |
14 |
31,823,965 (GRCm39) |
splice site |
probably null |
|
|
R7809:Oxnad1
|
UTSW |
14 |
31,822,962 (GRCm39) |
missense |
probably benign |
|
|
R8139:Oxnad1
|
UTSW |
14 |
31,814,048 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8421:Oxnad1
|
UTSW |
14 |
31,821,431 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8475:Oxnad1
|
UTSW |
14 |
31,823,250 (GRCm39) |
splice site |
probably null |
|
|
X0020:Oxnad1
|
UTSW |
14 |
31,813,718 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTTGACCCTCAGCCCACAGATG -3'
(R):5'- ATCAGGCACTTCGGCCATACTCAC -3'
Sequencing Primer
(F):5'- GATGCCCCTCGAAACCTC -3'
(R):5'- GGTTGCTCACTCTACCATACAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation