Incidental Mutation 'R9591:Dhrs11'
| ID |
723010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhrs11
|
| Ensembl Gene |
ENSMUSG00000034449 |
| Gene Name |
dehydrogenase/reductase 11 |
| Synonyms |
dehydrogenase/reductase (SDR family) member 11 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
84711682-84719820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 84719584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 47
(N47T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018547]
[ENSMUST00000047560]
[ENSMUST00000100686]
[ENSMUST00000108081]
[ENSMUST00000151496]
[ENSMUST00000154915]
[ENSMUST00000168434]
[ENSMUST00000172405]
|
| 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
AA Change: N47T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000043467
Gene: ENSMUSG00000034449
AA Change: N47T
| 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 |
unknown
Transcript: ENSMUST00000151496
AA Change: N47T
|
| SMART Domains |
Protein: ENSMUSP00000122267
Gene: ENSMUSG00000034449
AA Change: N47T
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,029,488 (GRCm39) |
I486N |
probably damaging |
Het |
| Ablim3 |
T |
C |
18: 61,954,984 (GRCm39) |
Y335C |
probably benign |
Het |
| Adam24 |
C |
A |
8: 41,132,698 (GRCm39) |
D55E |
probably benign |
Het |
| Ankrd13d |
A |
G |
19: 4,320,250 (GRCm39) |
*164Q |
probably null |
Het |
| Arhgap25 |
T |
C |
6: 87,440,102 (GRCm39) |
N515S |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Btbd9 |
T |
C |
17: 30,736,222 (GRCm39) |
D297G |
probably damaging |
Het |
| C4b |
A |
T |
17: 34,957,929 (GRCm39) |
M584K |
probably benign |
Het |
| C9orf72 |
C |
T |
4: 35,218,557 (GRCm39) |
G101R |
|
Het |
| Ccdc116 |
T |
C |
16: 16,960,598 (GRCm39) |
D73G |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,011,296 (GRCm39) |
V296A |
probably benign |
Het |
| Cldn19 |
A |
G |
4: 119,114,357 (GRCm39) |
T133A |
probably benign |
Het |
| Crygn |
G |
T |
5: 24,961,073 (GRCm39) |
H78N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,336 (GRCm39) |
S396G |
probably benign |
Het |
| Gm3667 |
T |
C |
14: 18,270,388 (GRCm39) |
Y139C |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,019,640 (GRCm39) |
N2137S |
probably damaging |
Het |
| Iapp |
T |
A |
6: 142,249,063 (GRCm39) |
C39S |
probably damaging |
Het |
| Irs1 |
T |
C |
1: 82,265,969 (GRCm39) |
E749G |
probably benign |
Het |
| Lpcat1 |
T |
G |
13: 73,659,471 (GRCm39) |
V411G |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,454,795 (GRCm39) |
E1398D |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,412,516 (GRCm39) |
T1821A |
unknown |
Het |
| Neu1 |
T |
C |
17: 35,150,474 (GRCm39) |
L31P |
probably benign |
Het |
| Nfam1 |
T |
C |
15: 82,900,581 (GRCm39) |
T94A |
possibly damaging |
Het |
| Nlrc5 |
T |
G |
8: 95,249,309 (GRCm39) |
S1752R |
probably damaging |
Het |
| Opn1sw |
T |
A |
6: 29,378,926 (GRCm39) |
E242V |
probably damaging |
Het |
| Or51b6 |
A |
T |
7: 103,556,470 (GRCm39) |
I272F |
|
Het |
| Peak1 |
C |
A |
9: 56,166,834 (GRCm39) |
V365F |
possibly damaging |
Het |
| Rgl2 |
C |
T |
17: 34,151,451 (GRCm39) |
T165I |
possibly damaging |
Het |
| Rnpepl1 |
T |
C |
1: 92,847,309 (GRCm39) |
L632P |
probably damaging |
Het |
| Sec1 |
G |
A |
7: 45,328,102 (GRCm39) |
T315M |
|
Het |
| Sipa1l2 |
A |
T |
8: 126,219,112 (GRCm39) |
M75K |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,701,828 (GRCm39) |
H1055Y |
probably damaging |
Het |
| Sprr2a3 |
T |
A |
3: 92,195,961 (GRCm39) |
C23S |
unknown |
Het |
| Tbck |
T |
A |
3: 132,400,195 (GRCm39) |
L82Q |
probably benign |
Het |
| Tmprss11a |
C |
T |
5: 86,567,897 (GRCm39) |
V277I |
possibly damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,031,921 (GRCm39) |
E565V |
possibly damaging |
Het |
| Zfp148 |
T |
A |
16: 33,315,737 (GRCm39) |
D230E |
|
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 |
|
R2433:Dhrs11
|
UTSW |
11 |
84,719,745 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCTCTCGCTACTAAACAGC -3'
(R):5'- CCGATCTTCAGTAACCCCAG -3'
Sequencing Primer
(F):5'- GCACTCCTGCTCTCAAGG -3'
(R):5'- GATCTTCAGTAACCCCAGACTAAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation