Incidental Mutation 'R0890:Dhrs13'
| ID |
83476 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhrs13
|
| Ensembl Gene |
ENSMUSG00000020834 |
| Gene Name |
dehydrogenase/reductase 13 |
| Synonyms |
2610209N15Rik, dehydrogenase/reductase (SDR family) member 13 |
| MMRRC Submission |
039053-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R0890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
77923139-77928690 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77925176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 99
(L99Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021187]
[ENSMUST00000049167]
[ENSMUST00000072289]
[ENSMUST00000073660]
[ENSMUST00000092881]
[ENSMUST00000100784]
[ENSMUST00000122342]
[ENSMUST00000144028]
[ENSMUST00000148162]
|
| AlphaFold |
Q5SS80 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021187
AA Change: L149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021187
Gene: ENSMUSG00000020834
AA Change: L149Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:KR
|
37 |
176 |
1.6e-10 |
PFAM |
|
Pfam:adh_short
|
37 |
238 |
6e-32 |
PFAM |
|
Pfam:Epimerase
|
39 |
256 |
3.4e-7 |
PFAM |
|
low complexity region
|
317 |
342 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049167
|
| SMART Domains |
Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
52 |
N/A |
INTRINSIC |
|
PHD
|
58 |
103 |
7.23e-11 |
SMART |
|
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
|
Pfam:PHF12_MRG_bd
|
202 |
241 |
1.3e-21 |
PFAM |
|
PHD
|
273 |
319 |
1.66e-10 |
SMART |
|
low complexity region
|
616 |
630 |
N/A |
INTRINSIC |
|
Blast:FHA
|
813 |
868 |
9e-34 |
BLAST |
|
low complexity region
|
905 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
927 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000072289
|
| SMART Domains |
Protein: ENSMUSP00000072136
Gene: ENSMUSG00000061981
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
87 |
269 |
1.34e-10 |
SMART |
|
Pfam:Flot
|
311 |
422 |
6.3e-12 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000073660
|
| SMART Domains |
Protein: ENSMUSP00000073342
Gene: ENSMUSG00000061981
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
87 |
269 |
1.34e-10 |
SMART |
|
Pfam:Flot
|
311 |
422 |
5.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092881
|
| SMART Domains |
Protein: ENSMUSP00000090557
Gene: ENSMUSG00000020834
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
23 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
37 |
111 |
3.2e-9 |
PFAM |
|
Pfam:NAD_binding_10
|
39 |
116 |
7.6e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100784
|
| SMART Domains |
Protein: ENSMUSP00000098347
Gene: ENSMUSG00000061981
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
38 |
220 |
1.34e-10 |
SMART |
|
Blast:PHB
|
277 |
347 |
2e-35 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000122342
AA Change: L99Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112553
Gene: ENSMUSG00000020834
AA Change: L99Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
1 |
131 |
9.1e-17 |
PFAM |
|
low complexity region
|
267 |
292 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150471
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144028
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148162
|
| SMART Domains |
Protein: ENSMUSP00000133147
Gene: ENSMUSG00000061981
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PHB
|
2 |
74 |
2e-34 |
BLAST |
|
PDB:1WIN|A
|
40 |
74 |
2e-8 |
PDB |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
| Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
| Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
| Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
| Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
| Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
| Kifc5b |
C |
T |
17: 27,141,996 (GRCm39) |
T158M |
possibly damaging |
Het |
| Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
| Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
| Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
| Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
| Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
| Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
| Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
| Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
probably damaging |
Het |
|
| Other mutations in Dhrs13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0594:Dhrs13
|
UTSW |
11 |
77,925,351 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0684:Dhrs13
|
UTSW |
11 |
77,927,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4424:Dhrs13
|
UTSW |
11 |
77,927,951 (GRCm39) |
nonsense |
probably null |
|
|
R5038:Dhrs13
|
UTSW |
11 |
77,923,256 (GRCm39) |
unclassified |
probably benign |
|
|
R6151:Dhrs13
|
UTSW |
11 |
77,927,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Dhrs13
|
UTSW |
11 |
77,923,519 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6765:Dhrs13
|
UTSW |
11 |
77,927,965 (GRCm39) |
missense |
probably benign |
|
|
R7177:Dhrs13
|
UTSW |
11 |
77,925,208 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7525:Dhrs13
|
UTSW |
11 |
77,923,260 (GRCm39) |
missense |
unknown |
|
|
R8210:Dhrs13
|
UTSW |
11 |
77,924,302 (GRCm39) |
missense |
unknown |
|
|
R8363:Dhrs13
|
UTSW |
11 |
77,925,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8669:Dhrs13
|
UTSW |
11 |
77,923,492 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8693:Dhrs13
|
UTSW |
11 |
77,923,492 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8714:Dhrs13
|
UTSW |
11 |
77,923,492 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8739:Dhrs13
|
UTSW |
11 |
77,923,492 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8922:Dhrs13
|
UTSW |
11 |
77,923,425 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAAGCTCTGAGCCAAGGCTGGAC -3'
(R):5'- ATAGCAGGTAACACCAGTGCCCTC -3'
Sequencing Primer
(F):5'- TCATCCACAATGCAGGTGAG -3'
(R):5'- CTCAAGCTGGGTGGCAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation