Incidental Mutation 'R4359:Srd5a3'
| ID |
324793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srd5a3
|
| Ensembl Gene |
ENSMUSG00000029233 |
| Gene Name |
steroid 5 alpha-reductase 3 |
| Synonyms |
Srd5a2l, 1110025P14Rik, D730040M03Rik |
| MMRRC Submission |
041670-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4359 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
76288118-76303351 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76295547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 79
(F79Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031143]
[ENSMUST00000113506]
[ENSMUST00000113507]
[ENSMUST00000127278]
[ENSMUST00000152642]
|
| AlphaFold |
Q9WUP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031143
AA Change: F79Y
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233
AA Change: F79Y
| 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 |
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,247,629 (GRCm39) |
V2459F |
probably benign |
Het |
| Acot1 |
T |
C |
12: 84,061,314 (GRCm39) |
Y207H |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,465,476 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Atr |
T |
A |
9: 95,833,589 (GRCm39) |
I2613N |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,731,957 (GRCm39) |
I2027T |
possibly damaging |
Het |
| C2cd3 |
T |
G |
7: 100,090,296 (GRCm39) |
H466Q |
probably damaging |
Het |
| Cdc14b |
T |
A |
13: 64,396,225 (GRCm39) |
I15F |
probably benign |
Het |
| Cep135 |
G |
T |
5: 76,759,561 (GRCm39) |
K438N |
possibly damaging |
Het |
| Cnot1 |
T |
C |
8: 96,466,476 (GRCm39) |
D1587G |
probably damaging |
Het |
| Cxcl16 |
C |
A |
11: 70,349,631 (GRCm39) |
V65L |
possibly damaging |
Het |
| Dhx36 |
T |
A |
3: 62,382,699 (GRCm39) |
T783S |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,356,389 (GRCm39) |
N157S |
probably benign |
Het |
| Efcab3 |
G |
T |
11: 104,624,547 (GRCm39) |
|
probably null |
Het |
| Fem1al |
A |
T |
11: 29,774,669 (GRCm39) |
S263T |
probably benign |
Het |
| Gfod2 |
T |
C |
8: 106,444,177 (GRCm39) |
N122S |
possibly damaging |
Het |
| Grin3b |
T |
A |
10: 79,808,731 (GRCm39) |
D160E |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Htr1b |
C |
A |
9: 81,514,404 (GRCm39) |
A68S |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,544 (GRCm39) |
D28V |
possibly damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,516,480 (GRCm39) |
V462A |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| L3mbtl3 |
A |
G |
10: 26,203,639 (GRCm39) |
V397A |
unknown |
Het |
| Lpcat2 |
C |
A |
8: 93,599,734 (GRCm39) |
P234Q |
probably benign |
Het |
| Lrp1b |
A |
C |
2: 40,793,077 (GRCm39) |
C2532W |
probably damaging |
Het |
| Malt1 |
T |
C |
18: 65,609,300 (GRCm39) |
V768A |
probably benign |
Het |
| Mindy3 |
A |
T |
2: 12,401,020 (GRCm39) |
W233R |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,249,736 (GRCm39) |
K1054R |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,061,712 (GRCm39) |
T2051S |
probably benign |
Het |
| Or10j5 |
C |
A |
1: 172,784,647 (GRCm39) |
A95E |
probably benign |
Het |
| Or51ac3 |
A |
G |
7: 103,213,742 (GRCm39) |
F248S |
probably benign |
Het |
| Pcsk1 |
T |
C |
13: 75,260,838 (GRCm39) |
S354P |
possibly damaging |
Het |
| Pilra |
T |
C |
5: 137,829,576 (GRCm39) |
T160A |
probably benign |
Het |
| Plekha5 |
G |
C |
6: 140,537,414 (GRCm39) |
E540D |
probably benign |
Het |
| Prps2 |
T |
A |
X: 166,146,545 (GRCm39) |
K176* |
probably null |
Het |
| Rasgrf2 |
C |
A |
13: 92,038,796 (GRCm39) |
D1017Y |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,385,470 (GRCm39) |
W506* |
probably null |
Het |
| Timeless |
C |
A |
10: 128,083,211 (GRCm39) |
Q653K |
probably benign |
Het |
| Trio |
G |
A |
15: 27,749,883 (GRCm39) |
Q1129* |
probably null |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,714,334 (GRCm39) |
S275T |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACCATTCTTGTTACCCAG -3'
(R):5'- CCTGCAGAGGGACATGATTG -3'
Sequencing Primer
(F):5'- GGACCATTCTTGTTACCCAGAAACAG -3'
(R):5'- CATGATTGGTGAGAACACGAAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation