Incidental Mutation 'IGL03148:Dhrs1'
| ID |
410962 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dhrs1
|
| Ensembl Gene |
ENSMUSG00000002332 |
| Gene Name |
dehydrogenase/reductase 1 |
| Synonyms |
1110029G07Rik, dehydrogenase/reductase (SDR family) member 1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
IGL03148
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
55976477-55983147 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 55978748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 133
(Y133*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002403]
[ENSMUST00000019441]
|
| AlphaFold |
Q99L04 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002403
AA Change: Y133*
|
| SMART Domains |
Protein: ENSMUSP00000002403
Gene: ENSMUSG00000002332
AA Change: Y133*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
8 |
114 |
1.5e-8 |
PFAM |
|
Pfam:adh_short
|
8 |
209 |
2.4e-41 |
PFAM |
|
Pfam:adh_short_C2
|
14 |
242 |
5.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019441
|
| SMART Domains |
Protein: ENSMUSP00000019441
Gene: ENSMUSG00000019297
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
55 |
N/A |
INTRINSIC |
|
Blast:Pumilio
|
92 |
127 |
3e-15 |
BLAST |
|
Pumilio
|
189 |
220 |
2.74e2 |
SMART |
|
Blast:Pumilio
|
263 |
298 |
3e-14 |
BLAST |
|
Pumilio
|
314 |
349 |
4.38e1 |
SMART |
|
Pumilio
|
351 |
387 |
1.03e1 |
SMART |
|
Pumilio
|
509 |
546 |
1.72e1 |
SMART |
|
Pumilio
|
547 |
582 |
9.17e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142043
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155969
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
G |
11: 99,728,079 (GRCm39) |
S255P |
unknown |
Het |
| Adamtsl2 |
T |
A |
2: 26,974,071 (GRCm39) |
Y125N |
probably damaging |
Het |
| Ankrd9 |
T |
C |
12: 110,943,293 (GRCm39) |
E214G |
probably benign |
Het |
| Bhmt2 |
T |
A |
13: 93,803,161 (GRCm39) |
D124V |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,317,874 (GRCm39) |
H271R |
possibly damaging |
Het |
| Clcn1 |
T |
G |
6: 42,276,925 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
A |
1: 90,755,588 (GRCm39) |
I234F |
probably benign |
Het |
| Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,278,062 (GRCm39) |
C995Y |
probably damaging |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,144 (GRCm39) |
E252G |
probably damaging |
Het |
| Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,518,075 (GRCm39) |
I1300V |
probably benign |
Het |
| Efcab12 |
T |
C |
6: 115,787,952 (GRCm39) |
Y670C |
probably damaging |
Het |
| Frg1 |
T |
G |
8: 41,864,321 (GRCm39) |
K66N |
probably benign |
Het |
| Gbp2b |
C |
A |
3: 142,312,642 (GRCm39) |
H342N |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
| Kcnh1 |
T |
G |
1: 191,959,307 (GRCm39) |
I287S |
probably damaging |
Het |
| Map1b |
A |
G |
13: 99,578,203 (GRCm39) |
L150P |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,457,045 (GRCm39) |
R1299Q |
probably benign |
Het |
| Mapk10 |
T |
C |
5: 103,073,971 (GRCm39) |
N407D |
probably damaging |
Het |
| Mcemp1 |
T |
A |
8: 3,717,390 (GRCm39) |
|
probably null |
Het |
| Nav1 |
A |
C |
1: 135,397,762 (GRCm39) |
N802K |
possibly damaging |
Het |
| Pcdhb2 |
T |
A |
18: 37,429,831 (GRCm39) |
N601K |
probably damaging |
Het |
| Pi4ka |
T |
A |
16: 17,172,053 (GRCm39) |
H564L |
probably damaging |
Het |
| Pnp |
T |
A |
14: 51,188,185 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2a |
G |
T |
14: 67,259,744 (GRCm39) |
N317K |
probably benign |
Het |
| Pramel47 |
A |
G |
5: 95,489,177 (GRCm39) |
T207A |
possibly damaging |
Het |
| Rars2 |
A |
T |
4: 34,650,243 (GRCm39) |
I343F |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,355,833 (GRCm39) |
F4092S |
probably damaging |
Het |
| Tcp11 |
A |
G |
17: 28,289,444 (GRCm39) |
V209A |
possibly damaging |
Het |
| Tet2 |
T |
C |
3: 133,187,124 (GRCm39) |
S1102G |
probably benign |
Het |
|
| Other mutations in Dhrs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0113:Dhrs1
|
UTSW |
14 |
55,977,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1104:Dhrs1
|
UTSW |
14 |
55,981,162 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1756:Dhrs1
|
UTSW |
14 |
55,976,766 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2086:Dhrs1
|
UTSW |
14 |
55,981,116 (GRCm39) |
missense |
probably null |
0.01 |
|
R4820:Dhrs1
|
UTSW |
14 |
55,977,083 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R6023:Dhrs1
|
UTSW |
14 |
55,981,127 (GRCm39) |
nonsense |
probably null |
|
|
R6546:Dhrs1
|
UTSW |
14 |
55,978,729 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7163:Dhrs1
|
UTSW |
14 |
55,976,838 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8730:Dhrs1
|
UTSW |
14 |
55,980,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8807:Dhrs1
|
UTSW |
14 |
55,982,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8892:Dhrs1
|
UTSW |
14 |
55,977,404 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8968:Dhrs1
|
UTSW |
14 |
55,978,192 (GRCm39) |
missense |
probably benign |
|
|
R8995:Dhrs1
|
UTSW |
14 |
55,977,396 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9008:Dhrs1
|
UTSW |
14 |
55,978,638 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9477:Dhrs1
|
UTSW |
14 |
55,976,868 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Posted On |
2016-08-02 |
Incidental Mutation