Incidental Mutation 'R4537:Srd5a3'
ID |
333364 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Srd5a3
|
Ensembl Gene |
ENSMUSG00000029233 |
Gene Name |
steroid 5 alpha-reductase 3 |
Synonyms |
Srd5a2l, 1110025P14Rik, D730040M03Rik |
MMRRC Submission |
041774-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4537 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
76288118-76303351 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 76297798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031143]
[ENSMUST00000031143]
[ENSMUST00000031143]
[ENSMUST00000113506]
[ENSMUST00000113506]
[ENSMUST00000113506]
[ENSMUST00000113507]
[ENSMUST00000113507]
[ENSMUST00000113507]
[ENSMUST00000127278]
[ENSMUST00000152642]
|
AlphaFold |
Q9WUP4 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
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 null
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 null
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 |
probably null
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 |
probably null
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
|
Meta Mutation Damage Score |
0.9588 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid4b |
T |
A |
13: 14,294,746 (GRCm39) |
Y9* |
probably null |
Het |
Aspm |
T |
C |
1: 139,402,041 (GRCm39) |
I1235T |
probably benign |
Het |
Defb30 |
T |
C |
14: 63,273,525 (GRCm39) |
I29M |
probably damaging |
Het |
Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
Dpy19l3 |
T |
C |
7: 35,411,326 (GRCm39) |
T428A |
probably benign |
Het |
Fam83b |
T |
C |
9: 76,399,424 (GRCm39) |
T560A |
probably benign |
Het |
Fnip2 |
A |
G |
3: 79,373,021 (GRCm39) |
V1019A |
probably damaging |
Het |
Fus |
A |
G |
7: 127,575,087 (GRCm39) |
D268G |
probably damaging |
Het |
Gm14412 |
T |
A |
2: 177,006,352 (GRCm39) |
K514N |
probably benign |
Het |
Gphn |
T |
C |
12: 78,540,788 (GRCm39) |
L265P |
probably benign |
Het |
Grm3 |
A |
G |
5: 9,562,083 (GRCm39) |
M589T |
probably benign |
Het |
Hoxa1 |
G |
T |
6: 52,134,973 (GRCm39) |
Q77K |
probably benign |
Het |
Ighv14-2 |
A |
G |
12: 113,958,512 (GRCm39) |
C3R |
probably benign |
Het |
Itgb2 |
G |
A |
10: 77,397,050 (GRCm39) |
|
probably null |
Het |
Mrpl24 |
A |
C |
3: 87,829,719 (GRCm39) |
K102Q |
probably benign |
Het |
Ogfod2 |
C |
T |
5: 124,252,591 (GRCm39) |
|
probably benign |
Het |
Olig2 |
A |
G |
16: 91,023,732 (GRCm39) |
I149V |
probably damaging |
Het |
Or10g9 |
T |
A |
9: 39,911,616 (GRCm39) |
K302N |
probably benign |
Het |
Or56a3b |
T |
A |
7: 104,776,227 (GRCm39) |
I84F |
probably damaging |
Het |
Or7g19 |
T |
A |
9: 18,856,526 (GRCm39) |
I194N |
possibly damaging |
Het |
Oxr1 |
A |
G |
15: 41,683,915 (GRCm39) |
Q515R |
possibly damaging |
Het |
Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
Slc25a12 |
T |
A |
2: 71,105,450 (GRCm39) |
|
probably benign |
Het |
Slc2a3 |
C |
A |
6: 122,714,063 (GRCm39) |
G157V |
probably damaging |
Het |
Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sprr2f |
A |
T |
3: 92,273,366 (GRCm39) |
Q55L |
unknown |
Het |
Tmtc1 |
C |
T |
6: 148,164,280 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
Uspl1 |
A |
G |
5: 149,124,588 (GRCm39) |
T2A |
possibly damaging |
Het |
Vmn2r87 |
T |
G |
10: 130,308,054 (GRCm39) |
H728P |
probably benign |
Het |
Vmn2r93 |
T |
A |
17: 18,525,194 (GRCm39) |
M284K |
possibly damaging |
Het |
Zfp101 |
T |
A |
17: 33,601,466 (GRCm39) |
M59L |
possibly damaging |
Het |
Zfp558 |
T |
C |
9: 18,368,798 (GRCm39) |
E146G |
probably null |
Het |
|
Other mutations in Srd5a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01129:Srd5a3
|
APN |
5 |
76,297,593 (GRCm39) |
splice site |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACTGACCATGTCCCCTTC -3'
(R):5'- CCCAGGAATGATTTGTACTGTCC -3'
Sequencing Primer
(F):5'- TGCATTGCAGCGGCTGAG -3'
(R):5'- CTATTGTCACTGAAGGATCTGCTACG -3'
|
Posted On |
2015-08-18 |