Incidental Mutation 'R5714:Srd5a3'
| ID |
451040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srd5a3
|
| Ensembl Gene |
ENSMUSG00000029233 |
| Gene Name |
steroid 5 alpha-reductase 3 |
| Synonyms |
Srd5a2l, 1110025P14Rik, D730040M03Rik |
| MMRRC Submission |
043186-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5714 (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 76301413 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 214
(F214Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031143]
[ENSMUST00000113506]
[ENSMUST00000113507]
[ENSMUST00000127278]
[ENSMUST00000152642]
|
| AlphaFold |
Q9WUP4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031143
AA Change: F214Y
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000031143
Gene: ENSMUSG00000029233
AA Change: F214Y
| 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: F90Y
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000109134
Gene: ENSMUSG00000029233
AA Change: F90Y
| 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: F90Y
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000109135
Gene: ENSMUSG00000029233
AA Change: F90Y
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
G |
T |
18: 65,438,532 (GRCm39) |
Q1421K |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,580,258 (GRCm39) |
T133M |
probably benign |
Het |
| Bcar3 |
G |
A |
3: 122,248,736 (GRCm39) |
V112M |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 136,039,804 (GRCm39) |
K1476R |
probably benign |
Het |
| Cdc42ep1 |
C |
A |
15: 78,733,977 (GRCm39) |
A359E |
possibly damaging |
Het |
| Cemip |
T |
A |
7: 83,624,387 (GRCm39) |
D483V |
probably damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,700,799 (GRCm39) |
R156H |
probably damaging |
Het |
| Dpys |
T |
A |
15: 39,720,553 (GRCm39) |
H69L |
probably damaging |
Het |
| Fbxl21 |
A |
G |
13: 56,674,885 (GRCm39) |
I79V |
probably benign |
Het |
| Fgf9 |
T |
C |
14: 58,347,022 (GRCm39) |
L205P |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,562,835 (GRCm39) |
F144L |
probably damaging |
Het |
| Flnb |
A |
C |
14: 7,929,073 (GRCm38) |
D1934A |
probably damaging |
Het |
| Garre1 |
G |
A |
7: 33,939,941 (GRCm39) |
Q717* |
probably null |
Het |
| Glul |
T |
C |
1: 153,782,243 (GRCm39) |
|
probably benign |
Het |
| Helz |
T |
A |
11: 107,517,347 (GRCm39) |
|
probably null |
Het |
| Kap |
A |
G |
6: 133,828,956 (GRCm39) |
Y42H |
probably benign |
Het |
| Kcnh8 |
T |
C |
17: 53,285,150 (GRCm39) |
V1040A |
probably benign |
Het |
| Kptn |
A |
G |
7: 15,854,683 (GRCm39) |
|
probably null |
Het |
| Lypd3 |
A |
G |
7: 24,338,494 (GRCm39) |
T182A |
possibly damaging |
Het |
| Mcm5 |
A |
C |
8: 75,847,538 (GRCm39) |
D445A |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,215,434 (GRCm39) |
I210K |
probably damaging |
Het |
| Nat8f2 |
A |
G |
6: 85,844,891 (GRCm39) |
V157A |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,187 (GRCm39) |
|
probably null |
Het |
| Pard3b |
C |
A |
1: 62,677,075 (GRCm39) |
A1140E |
probably null |
Het |
| Pcnt |
A |
T |
10: 76,256,325 (GRCm39) |
D638E |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,346,673 (GRCm39) |
I834T |
probably damaging |
Het |
| Phyhd1 |
T |
A |
2: 30,169,994 (GRCm39) |
L162H |
probably damaging |
Het |
| Polg |
C |
A |
7: 79,101,739 (GRCm39) |
A1026S |
possibly damaging |
Het |
| Prl7c1 |
A |
T |
13: 27,962,949 (GRCm39) |
L18* |
probably null |
Het |
| Rars2 |
T |
A |
4: 34,645,779 (GRCm39) |
M232K |
probably benign |
Het |
| Rtl1 |
A |
G |
12: 109,560,114 (GRCm39) |
V575A |
probably damaging |
Het |
| Slc18b1 |
A |
T |
10: 23,674,664 (GRCm39) |
T40S |
probably benign |
Het |
| Slc22a19 |
T |
C |
19: 7,688,387 (GRCm39) |
T58A |
probably damaging |
Het |
| Slc27a6 |
A |
T |
18: 58,731,625 (GRCm39) |
E325V |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Tgfbr2 |
A |
T |
9: 116,004,092 (GRCm39) |
L5Q |
probably damaging |
Het |
| Tmem94 |
C |
A |
11: 115,684,016 (GRCm39) |
Q779K |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,652,837 (GRCm39) |
P216S |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,132,454 (GRCm39) |
Q892L |
probably benign |
Het |
| Vgll4 |
A |
T |
6: 114,867,737 (GRCm39) |
M38K |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,773,121 (GRCm39) |
I500T |
probably damaging |
Het |
| Vps33a |
T |
C |
5: 123,707,563 (GRCm39) |
I135V |
probably benign |
Het |
| Wscd1 |
T |
C |
11: 71,675,261 (GRCm39) |
|
probably null |
Het |
| Zfp457 |
C |
A |
13: 67,444,490 (GRCm39) |
M4I |
possibly damaging |
Het |
| Zfp532 |
G |
A |
18: 65,756,606 (GRCm39) |
G180R |
possibly damaging |
Het |
| Zfp97 |
A |
G |
17: 17,365,871 (GRCm39) |
T457A |
possibly 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 |
|
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 |
|
|
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'- GCGCTTGCAGAATGTTTGAG -3'
(R):5'- GGGAGTATCTGGTATCGACAAG -3'
Sequencing Primer
(F):5'- AAGATGTCAGTACGGTCTCTGCC -3'
(R):5'- TATCTGGTATCGACAAGGGAAGG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation