Incidental Mutation 'R2433:Dhrs11'
ID |
250498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhrs11
|
Ensembl Gene |
ENSMUSG00000034449 |
Gene Name |
dehydrogenase/reductase 11 |
Synonyms |
dehydrogenase/reductase (SDR family) member 11 |
MMRRC Submission |
040394-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2433 (G1)
|
Quality Score |
206 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
84711682-84719820 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 84719745 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127584
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000047560]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000151496]
[ENSMUST00000154915]
[ENSMUST00000172405]
[ENSMUST00000168434]
|
AlphaFold |
Q3U0B3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018547
|
SMART Domains |
Protein: ENSMUSP00000018547 Gene: ENSMUSG00000020530
Domain | Start | End | E-Value | Type |
low complexity region
|
179 |
185 |
N/A |
INTRINSIC |
coiled coil region
|
393 |
426 |
N/A |
INTRINSIC |
low complexity region
|
570 |
584 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047560
|
SMART Domains |
Protein: ENSMUSP00000043467 Gene: ENSMUSG00000034449
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
12 |
214 |
1.4e-46 |
PFAM |
Pfam:KR
|
13 |
154 |
1.7e-11 |
PFAM |
Pfam:Epimerase
|
14 |
251 |
4.8e-7 |
PFAM |
Pfam:adh_short_C2
|
18 |
245 |
1.8e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100686
|
SMART Domains |
Protein: ENSMUSP00000098252 Gene: ENSMUSG00000020530
Domain | Start | End | E-Value | Type |
coiled coil region
|
351 |
388 |
N/A |
INTRINSIC |
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108081
|
SMART Domains |
Protein: ENSMUSP00000103716 Gene: ENSMUSG00000020530
Domain | Start | End | E-Value | Type |
coiled coil region
|
353 |
386 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126016
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151496
|
SMART Domains |
Protein: ENSMUSP00000122267 Gene: ENSMUSG00000034449
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
12 |
49 |
6.3e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154915
|
SMART Domains |
Protein: ENSMUSP00000117482 Gene: ENSMUSG00000020530
Domain | Start | End | E-Value | Type |
coiled coil region
|
351 |
384 |
N/A |
INTRINSIC |
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172405
|
SMART Domains |
Protein: ENSMUSP00000127584 Gene: ENSMUSG00000020530
Domain | Start | End | E-Value | Type |
coiled coil region
|
353 |
386 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168434
|
SMART Domains |
Protein: ENSMUSP00000130013 Gene: ENSMUSG00000020530
Domain | Start | End | E-Value | Type |
coiled coil region
|
351 |
384 |
N/A |
INTRINSIC |
low complexity region
|
528 |
542 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp6v0a4 |
A |
G |
6: 38,058,964 (GRCm39) |
|
probably null |
Het |
Bpifb4 |
A |
G |
2: 153,801,597 (GRCm39) |
K573E |
probably damaging |
Het |
Capn10 |
T |
A |
1: 92,870,247 (GRCm39) |
D244E |
probably benign |
Het |
Eipr1 |
G |
A |
12: 28,913,042 (GRCm39) |
G248R |
probably damaging |
Het |
Fam120a |
A |
C |
13: 49,087,444 (GRCm39) |
D305E |
probably damaging |
Het |
Hmgcr |
A |
G |
13: 96,802,393 (GRCm39) |
L97P |
probably damaging |
Het |
Htt |
A |
T |
5: 35,064,885 (GRCm39) |
S3033C |
possibly damaging |
Het |
Igkv10-94 |
T |
C |
6: 68,681,559 (GRCm39) |
T94A |
probably benign |
Het |
Krtap16-3 |
T |
C |
16: 88,759,533 (GRCm39) |
Y60C |
unknown |
Het |
Lrp4 |
G |
A |
2: 91,336,360 (GRCm39) |
V1724I |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,892,158 (GRCm39) |
Y1634C |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,943,160 (GRCm39) |
Y96C |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,929,912 (GRCm39) |
|
probably null |
Het |
Pde3b |
T |
C |
7: 114,126,072 (GRCm39) |
C769R |
probably benign |
Het |
Phlpp2 |
T |
G |
8: 110,666,634 (GRCm39) |
C1054W |
probably damaging |
Het |
Pttg1 |
A |
T |
11: 43,311,178 (GRCm39) |
V193D |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,767,127 (GRCm39) |
L433S |
probably benign |
Het |
Sema4f |
A |
T |
6: 82,916,490 (GRCm39) |
C13S |
possibly damaging |
Het |
Slc12a3 |
T |
C |
8: 95,072,944 (GRCm39) |
L689P |
probably benign |
Het |
Slc7a6os |
T |
C |
8: 106,931,003 (GRCm39) |
N211S |
possibly damaging |
Het |
Smurf2 |
T |
A |
11: 106,759,490 (GRCm39) |
I69F |
probably benign |
Het |
St8sia3 |
A |
T |
18: 64,402,787 (GRCm39) |
H198L |
probably benign |
Het |
Tacc3 |
A |
G |
5: 33,829,083 (GRCm39) |
K594R |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,721,544 (GRCm39) |
I1396K |
possibly damaging |
Het |
Ugcg |
A |
G |
4: 59,207,876 (GRCm39) |
T72A |
possibly damaging |
Het |
Zfp944 |
A |
T |
17: 22,558,193 (GRCm39) |
Y351* |
probably null |
Het |
|
Other mutations in Dhrs11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02217:Dhrs11
|
APN |
11 |
84,713,221 (GRCm39) |
nonsense |
probably null |
|
R0023:Dhrs11
|
UTSW |
11 |
84,713,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R1583:Dhrs11
|
UTSW |
11 |
84,713,943 (GRCm39) |
missense |
probably damaging |
1.00 |
R1985:Dhrs11
|
UTSW |
11 |
84,719,633 (GRCm39) |
missense |
probably damaging |
1.00 |
R3911:Dhrs11
|
UTSW |
11 |
84,712,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Dhrs11
|
UTSW |
11 |
84,716,342 (GRCm39) |
makesense |
probably null |
|
R4511:Dhrs11
|
UTSW |
11 |
84,716,342 (GRCm39) |
makesense |
probably null |
|
R4798:Dhrs11
|
UTSW |
11 |
84,719,626 (GRCm39) |
missense |
probably benign |
0.03 |
R5936:Dhrs11
|
UTSW |
11 |
84,716,350 (GRCm39) |
nonsense |
probably null |
|
R6162:Dhrs11
|
UTSW |
11 |
84,719,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R9591:Dhrs11
|
UTSW |
11 |
84,719,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTTACCTCGATGTTGC -3'
(R):5'- GGTAAAAGCAACTCCACCGG -3'
Sequencing Primer
(F):5'- TACCTCGATGTTGCCAACGG -3'
(R):5'- TATCCTCAAGGCTGTGCGG -3'
|
Posted On |
2014-11-12 |