Incidental Mutation 'IGL01129:Srd5a3'
| ID |
51162 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srd5a3
|
| Ensembl Gene |
ENSMUSG00000029233 |
| Gene Name |
steroid 5 alpha-reductase 3 |
| Synonyms |
Srd5a2l, 1110025P14Rik, D730040M03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
76288118-76303351 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 76297593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031143]
[ENSMUST00000113506]
[ENSMUST00000113507]
[ENSMUST00000127278]
[ENSMUST00000152642]
|
| AlphaFold |
Q9WUP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031143
|
| SMART Domains |
Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
transmembrane domain
|
132 |
150 |
N/A |
INTRINSIC |
|
Pfam:Steroid_dh
|
168 |
330 |
4.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113506
|
| SMART Domains |
Protein: ENSMUSP00000109134
Gene: ENSMUSG00000029233
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
|
Pfam:Steroid_dh
|
44 |
206 |
2.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113507
|
| SMART Domains |
Protein: ENSMUSP00000109135
Gene: ENSMUSG00000029233
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
|
Pfam:Steroid_dh
|
44 |
206 |
2.3e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124217
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127278
|
| SMART Domains |
Protein: ENSMUSP00000116801
Gene: ENSMUSG00000029233
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
29 |
N/A |
INTRINSIC |
|
transmembrane domain
|
44 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152642
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit embryonic lethality between E11.5 and E13.5 with open neural tubes, failure to turn, dilated hearts, and ventral body wall defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
A |
T |
X: 66,964,210 (GRCm39) |
F216L |
possibly damaging |
Het |
| Bace2 |
T |
G |
16: 97,209,630 (GRCm39) |
N181K |
probably damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,033 (GRCm39) |
H161N |
probably benign |
Het |
| Ckap2 |
C |
T |
8: 22,659,774 (GRCm39) |
G569D |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,979,522 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,535,846 (GRCm39) |
D939N |
unknown |
Het |
| Creb3l2 |
A |
T |
6: 37,330,569 (GRCm39) |
|
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,074,080 (GRCm39) |
S205T |
possibly damaging |
Het |
| Cux1 |
G |
A |
5: 136,333,572 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
A |
G |
5: 146,035,089 (GRCm39) |
M256V |
probably benign |
Het |
| Gzf1 |
C |
A |
2: 148,532,916 (GRCm39) |
P690Q |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,815,335 (GRCm39) |
D575E |
probably benign |
Het |
| Lypd3 |
A |
G |
7: 24,340,018 (GRCm39) |
M362V |
probably benign |
Het |
| Mppe1 |
C |
A |
18: 67,370,515 (GRCm39) |
G61* |
probably null |
Het |
| Nr2c2 |
T |
A |
6: 92,135,397 (GRCm39) |
D328E |
probably benign |
Het |
| Or6b9 |
T |
C |
7: 106,555,634 (GRCm39) |
N170D |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,505 (GRCm39) |
V114E |
probably damaging |
Het |
| Rab14 |
T |
C |
2: 35,073,398 (GRCm39) |
|
probably benign |
Het |
| Slc30a9 |
G |
T |
5: 67,499,486 (GRCm39) |
G315C |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,935,681 (GRCm39) |
S303C |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,967,333 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,120,823 (GRCm39) |
V161A |
probably damaging |
Het |
| Vmn1r18 |
A |
T |
6: 57,367,482 (GRCm39) |
F24Y |
probably benign |
Het |
| Vmn1r78 |
A |
T |
7: 11,887,165 (GRCm39) |
T259S |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,573,439 (GRCm39) |
D1527N |
probably damaging |
Het |
|
| Other mutations in Srd5a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02172:Srd5a3
|
APN |
5 |
76,295,556 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1055:Srd5a3
|
UTSW |
5 |
76,301,485 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1777:Srd5a3
|
UTSW |
5 |
76,297,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1914:Srd5a3
|
UTSW |
5 |
76,295,552 (GRCm39) |
missense |
probably benign |
|
|
R1915:Srd5a3
|
UTSW |
5 |
76,295,552 (GRCm39) |
missense |
probably benign |
|
|
R4357:Srd5a3
|
UTSW |
5 |
76,295,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4359:Srd5a3
|
UTSW |
5 |
76,295,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4537:Srd5a3
|
UTSW |
5 |
76,297,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5714:Srd5a3
|
UTSW |
5 |
76,301,413 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6762:Srd5a3
|
UTSW |
5 |
76,301,398 (GRCm39) |
missense |
probably benign |
|
|
R7009:Srd5a3
|
UTSW |
5 |
76,297,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7130:Srd5a3
|
UTSW |
5 |
76,297,684 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7185:Srd5a3
|
UTSW |
5 |
76,301,419 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7427:Srd5a3
|
UTSW |
5 |
76,302,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7778:Srd5a3
|
UTSW |
5 |
76,302,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7824:Srd5a3
|
UTSW |
5 |
76,302,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7861:Srd5a3
|
UTSW |
5 |
76,295,666 (GRCm39) |
nonsense |
probably null |
|
|
R7869:Srd5a3
|
UTSW |
5 |
76,295,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8472:Srd5a3
|
UTSW |
5 |
76,297,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8966:Srd5a3
|
UTSW |
5 |
76,301,437 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8969:Srd5a3
|
UTSW |
5 |
76,301,493 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9150:Srd5a3
|
UTSW |
5 |
76,297,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Srd5a3
|
UTSW |
5 |
76,297,794 (GRCm39) |
missense |
probably benign |
0.07 |
|
Z1088:Srd5a3
|
UTSW |
5 |
76,297,668 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-06-21 |
Incidental Mutation