Incidental Mutation 'R6762:Srd5a3'
| ID |
531732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srd5a3
|
| Ensembl Gene |
ENSMUSG00000029233 |
| Gene Name |
steroid 5 alpha-reductase 3 |
| Synonyms |
Srd5a2l, 1110025P14Rik, D730040M03Rik |
| MMRRC Submission |
044878-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6762 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
76288118-76303351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76301398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 85
(I85K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031143]
[ENSMUST00000113506]
[ENSMUST00000113507]
[ENSMUST00000127278]
[ENSMUST00000152642]
|
| AlphaFold |
Q9WUP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031143
AA Change: I209K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233
AA Change: I209K
| 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
AA Change: I85K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109134
Gene: ENSMUSG00000029233
AA Change: I85K
| 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
AA Change: I85K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109135
Gene: ENSMUSG00000029233
AA Change: I85K
| 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: 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 |
probably benign
Transcript: ENSMUST00000152642
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (45/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,867 (GRCm39) |
Y27H |
probably benign |
Het |
| Angptl3 |
T |
A |
4: 98,925,654 (GRCm39) |
S327T |
possibly damaging |
Het |
| Arl6ip4 |
GGAAGAAGAAGAAGAAGAA |
GGAAGAAGAAGAAGAAGAAGAA |
5: 124,255,113 (GRCm39) |
|
probably benign |
Het |
| Cyp2s1 |
A |
T |
7: 25,507,495 (GRCm39) |
L318H |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,584,824 (GRCm39) |
L3185P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,263,902 (GRCm39) |
V2128A |
probably benign |
Het |
| Ehhadh |
A |
T |
16: 21,581,209 (GRCm39) |
F594L |
probably benign |
Het |
| En2 |
A |
G |
5: 28,375,351 (GRCm39) |
N298S |
possibly damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,585 (GRCm39) |
N140Y |
probably damaging |
Het |
| Fam151b |
C |
T |
13: 92,604,558 (GRCm39) |
V144I |
possibly damaging |
Het |
| Fanca |
C |
A |
8: 123,998,042 (GRCm39) |
A1215S |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,562,977 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
C |
11: 55,144,308 (GRCm39) |
|
probably null |
Het |
| Gm4513 |
T |
C |
7: 20,328,118 (GRCm39) |
N31S |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,279,114 (GRCm39) |
I3066F |
possibly damaging |
Het |
| Krt10 |
T |
C |
11: 99,277,883 (GRCm39) |
T355A |
possibly damaging |
Het |
| Lims1 |
C |
A |
10: 58,248,367 (GRCm39) |
H275N |
probably damaging |
Het |
| Map3k19 |
C |
T |
1: 127,775,001 (GRCm39) |
G112D |
probably damaging |
Het |
| Mdn1 |
T |
A |
4: 32,676,786 (GRCm39) |
N619K |
possibly damaging |
Het |
| Mtor |
A |
G |
4: 148,622,938 (GRCm39) |
T1977A |
possibly damaging |
Het |
| Nos2 |
T |
G |
11: 78,850,574 (GRCm39) |
L1144R |
possibly damaging |
Het |
| Or52ae7 |
G |
C |
7: 103,119,596 (GRCm39) |
V117L |
probably benign |
Het |
| Or6c68 |
G |
A |
10: 129,158,125 (GRCm39) |
C211Y |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,188 (GRCm39) |
F205I |
probably benign |
Het |
| Pals2 |
T |
A |
6: 50,157,418 (GRCm39) |
|
probably null |
Het |
| Pcdhga9 |
C |
A |
18: 37,870,321 (GRCm39) |
S50Y |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,487 (GRCm39) |
M108K |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,024,219 (GRCm39) |
|
probably null |
Het |
| Qtrt1 |
T |
A |
9: 21,323,378 (GRCm39) |
H76Q |
probably damaging |
Het |
| Rpa1 |
T |
A |
11: 75,231,171 (GRCm39) |
S73C |
possibly damaging |
Het |
| Senp5 |
A |
G |
16: 31,808,702 (GRCm39) |
V157A |
probably damaging |
Het |
| Snapc3 |
T |
C |
4: 83,353,495 (GRCm39) |
L178P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,093,633 (GRCm39) |
F1340L |
probably damaging |
Het |
| Taar2 |
C |
T |
10: 23,817,300 (GRCm39) |
T280M |
probably damaging |
Het |
| Tgfb3 |
T |
C |
12: 86,116,237 (GRCm39) |
D177G |
probably benign |
Het |
| Tpt1 |
A |
G |
14: 76,083,821 (GRCm39) |
D94G |
probably benign |
Het |
| Trpm4 |
A |
G |
7: 44,954,240 (GRCm39) |
|
probably benign |
Het |
| Trpv4 |
C |
T |
5: 114,763,171 (GRCm39) |
R746H |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,967 (GRCm39) |
D70G |
probably damaging |
Het |
| Ugcg |
T |
A |
4: 59,219,530 (GRCm39) |
I289N |
possibly damaging |
Het |
| Vmn2r2 |
C |
G |
3: 64,041,870 (GRCm39) |
D282H |
probably damaging |
Het |
| Vmn2r50 |
A |
T |
7: 9,787,010 (GRCm39) |
N32K |
probably benign |
Het |
| Wdpcp |
C |
T |
11: 21,671,244 (GRCm39) |
T495I |
probably benign |
Het |
| Zfp961 |
T |
A |
8: 72,719,958 (GRCm39) |
C51S |
possibly damaging |
Het |
| Zxdc |
C |
T |
6: 90,359,165 (GRCm39) |
A599V |
probably benign |
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 |
|
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 |
|
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'- AGCGCTTGCAGAATGTTTGAG -3'
(R):5'- GAGTATCTGGTATCGACAAGGG -3'
Sequencing Primer
(F):5'- AAGATGTCAGTACGGTCTCTGCC -3'
(R):5'- TATCTGGTATCGACAAGGGAAGGAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation