Incidental Mutation 'R1328:Srd5a1'
| ID |
157288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srd5a1
|
| Ensembl Gene |
ENSMUSG00000021594 |
| Gene Name |
steroid 5 alpha-reductase 1 |
| Synonyms |
4930435F02Rik, Srd5a-1, 0610031P22Rik |
| MMRRC Submission |
039394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R1328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
69721568-69759561 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69723310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 236
(Y236F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091514]
[ENSMUST00000143716]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091514
AA Change: Y236F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089097
Gene: ENSMUSG00000021594
AA Change: Y236F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
31 |
N/A |
INTRINSIC |
|
transmembrane domain
|
83 |
102 |
N/A |
INTRINSIC |
|
Pfam:DUF1295
|
104 |
242 |
4.6e-13 |
PFAM |
|
Pfam:Steroid_dh
|
106 |
255 |
2.9e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143716
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148115
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220731
|
| Meta Mutation Damage Score |
0.8462 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008]
PHENOTYPE: Female mice homozygous for a targeted mutation exhibit parturiton defects and deliver small litters. Male homozygous mice appear healthy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
C |
T |
7: 43,906,516 (GRCm39) |
|
probably null |
Het |
| Bcap29 |
T |
C |
12: 31,680,807 (GRCm39) |
I60V |
probably benign |
Het |
| Ccdc71 |
T |
A |
9: 108,340,148 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,027,382 (GRCm39) |
V240E |
probably benign |
Het |
| Copa |
C |
T |
1: 171,949,258 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
T |
9: 54,303,533 (GRCm39) |
Q2314K |
probably benign |
Het |
| Fam181b |
T |
C |
7: 92,729,437 (GRCm39) |
I70T |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,457,347 (GRCm39) |
L176P |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,796 (GRCm39) |
F144L |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,438,612 (GRCm39) |
W169R |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,581,925 (GRCm39) |
V127A |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,468,802 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,169 (GRCm39) |
A251V |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,644,617 (GRCm39) |
|
probably benign |
Het |
| Or6c202 |
A |
G |
10: 128,996,293 (GRCm39) |
S187P |
possibly damaging |
Het |
| Or9i14 |
G |
A |
19: 13,792,900 (GRCm39) |
T18I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,392 (GRCm39) |
Y481H |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,533,046 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
G |
A |
8: 79,162,759 (GRCm39) |
A92V |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,058 (GRCm39) |
L395P |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 78,299,283 (GRCm39) |
I659T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rrp36 |
T |
A |
17: 46,983,705 (GRCm39) |
K36* |
probably null |
Het |
| Sag |
G |
A |
1: 87,738,016 (GRCm39) |
|
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,450,240 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Sox13 |
T |
C |
1: 133,311,555 (GRCm39) |
D559G |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,692,657 (GRCm39) |
I570F |
possibly damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,805,859 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,260,913 (GRCm39) |
T1064A |
possibly damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,278 (GRCm39) |
S110P |
possibly damaging |
Het |
| Vmn2r118 |
C |
A |
17: 55,915,620 (GRCm39) |
M443I |
probably benign |
Het |
|
| Other mutations in Srd5a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01714:Srd5a1
|
APN |
13 |
69,759,181 (GRCm39) |
nonsense |
probably null |
|
|
R2924:Srd5a1
|
UTSW |
13 |
69,734,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2979:Srd5a1
|
UTSW |
13 |
69,748,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Srd5a1
|
UTSW |
13 |
69,759,418 (GRCm39) |
unclassified |
probably benign |
|
|
R7332:Srd5a1
|
UTSW |
13 |
69,759,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7995:Srd5a1
|
UTSW |
13 |
69,759,338 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9019:Srd5a1
|
UTSW |
13 |
69,748,413 (GRCm39) |
nonsense |
probably null |
|
|
R9704:Srd5a1
|
UTSW |
13 |
69,743,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCATTGCCCTTCCTGAGAACTATG -3'
(R):5'- TAGGTCGCTCCTGAGACACACTTC -3'
Sequencing Primer
(F):5'- CCTTCCTGAGAACTATGGAACTG -3'
(R):5'- cacacacacatacacacatacac -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation