Incidental Mutation 'IGL02745:Hsd17b3'
ID |
306112 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hsd17b3
|
Ensembl Gene |
ENSMUSG00000033122 |
Gene Name |
hydroxysteroid (17-beta) dehydrogenase 3 |
Synonyms |
17(beta)HSD type 3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02745
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
64206080-64237044 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 64234990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 62
(F62L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152274
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039832]
[ENSMUST00000166224]
[ENSMUST00000222783]
[ENSMUST00000222810]
|
AlphaFold |
P70385 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039832
AA Change: F62L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000044217 Gene: ENSMUSG00000033122 AA Change: F62L
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
45 |
213 |
3.4e-26 |
PFAM |
Pfam:adh_short_C2
|
51 |
272 |
1.2e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166224
AA Change: F62L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000132011 Gene: ENSMUSG00000033122 AA Change: F62L
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
45 |
240 |
2.4e-48 |
PFAM |
Pfam:adh_short_C2
|
51 |
272 |
3.8e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222783
AA Change: F62L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222810
AA Change: F62L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This isoform of 17 beta-hydroxysteroid dehydrogenase is expressed predominantly in the testis and catalyzes the conversion of androstenedione to testosterone. It preferentially uses NADP as cofactor. Deficiency can result in male pseudohermaphroditism with gynecomastia. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,282 (GRCm39) |
E167G |
probably benign |
Het |
Aldh1a1 |
A |
G |
19: 20,614,028 (GRCm39) |
|
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,805,950 (GRCm39) |
H152R |
probably damaging |
Het |
Bpifb4 |
T |
A |
2: 153,789,141 (GRCm39) |
L316Q |
probably damaging |
Het |
C2cd5 |
A |
T |
6: 142,987,256 (GRCm39) |
L155I |
probably benign |
Het |
Chrdl2 |
T |
A |
7: 99,670,170 (GRCm39) |
C98S |
probably damaging |
Het |
Clnk |
A |
G |
5: 38,893,662 (GRCm39) |
S232P |
probably benign |
Het |
Csf3 |
A |
G |
11: 98,593,303 (GRCm39) |
D140G |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,234,189 (GRCm39) |
|
probably benign |
Het |
Fetub |
T |
C |
16: 22,756,676 (GRCm39) |
V259A |
probably damaging |
Het |
Gga2 |
G |
T |
7: 121,607,592 (GRCm39) |
R108S |
probably damaging |
Het |
Hip1r |
C |
A |
5: 124,129,002 (GRCm39) |
|
probably null |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Man1a |
C |
T |
10: 53,853,206 (GRCm39) |
R304Q |
probably damaging |
Het |
Med17 |
A |
G |
9: 15,176,642 (GRCm39) |
|
probably benign |
Het |
Mrgprb4 |
T |
C |
7: 47,848,106 (GRCm39) |
Y274C |
probably damaging |
Het |
Myh8 |
C |
T |
11: 67,188,327 (GRCm39) |
T996I |
possibly damaging |
Het |
Niban3 |
G |
T |
8: 72,057,682 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
T |
A |
7: 23,020,716 (GRCm39) |
L401Q |
probably damaging |
Het |
Oas1h |
G |
A |
5: 120,999,542 (GRCm39) |
R9Q |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,844,232 (GRCm39) |
Y59H |
probably damaging |
Het |
Or4d10b |
C |
T |
19: 12,036,565 (GRCm39) |
V184I |
probably benign |
Het |
Or8g51 |
T |
C |
9: 38,609,494 (GRCm39) |
H56R |
probably damaging |
Het |
Otor |
A |
G |
2: 142,923,076 (GRCm39) |
D122G |
possibly damaging |
Het |
Pcdh18 |
T |
A |
3: 49,710,340 (GRCm39) |
Q325L |
probably damaging |
Het |
Ppfibp1 |
T |
C |
6: 146,923,852 (GRCm39) |
|
probably benign |
Het |
Pramel16 |
A |
T |
4: 143,677,294 (GRCm39) |
L95Q |
probably damaging |
Het |
Prlr |
T |
A |
15: 10,328,680 (GRCm39) |
I385N |
possibly damaging |
Het |
Rap1gds1 |
A |
G |
3: 138,662,002 (GRCm39) |
V418A |
probably damaging |
Het |
Rdh1 |
A |
T |
10: 127,601,288 (GRCm39) |
T279S |
probably benign |
Het |
Slc17a3 |
C |
A |
13: 24,026,469 (GRCm39) |
Q13K |
probably benign |
Het |
Slc22a20 |
T |
C |
19: 6,022,901 (GRCm39) |
N414S |
probably damaging |
Het |
Slc4a1 |
C |
A |
11: 102,247,093 (GRCm39) |
C498F |
probably damaging |
Het |
Sp8 |
G |
A |
12: 118,813,326 (GRCm39) |
G394S |
probably damaging |
Het |
Ssh2 |
C |
T |
11: 77,346,233 (GRCm39) |
T1406I |
probably damaging |
Het |
Stra6 |
T |
A |
9: 58,059,321 (GRCm39) |
D561E |
probably damaging |
Het |
Stxbp5l |
G |
A |
16: 37,007,016 (GRCm39) |
Q726* |
probably null |
Het |
Synpo2 |
G |
A |
3: 122,907,261 (GRCm39) |
T685I |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,635,140 (GRCm39) |
S556T |
probably benign |
Het |
Ttc27 |
A |
G |
17: 75,046,728 (GRCm39) |
D263G |
probably benign |
Het |
Ttn |
G |
A |
2: 76,594,332 (GRCm39) |
P18793S |
possibly damaging |
Het |
Vmn2r109 |
A |
G |
17: 20,761,512 (GRCm39) |
V615A |
probably damaging |
Het |
Vmn2r76 |
T |
G |
7: 85,879,495 (GRCm39) |
K268N |
probably benign |
Het |
Zeb2 |
A |
G |
2: 44,884,487 (GRCm39) |
|
probably benign |
Het |
Zfp286 |
C |
A |
11: 62,671,700 (GRCm39) |
K124N |
probably damaging |
Het |
|
Other mutations in Hsd17b3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01407:Hsd17b3
|
APN |
13 |
64,210,719 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02221:Hsd17b3
|
APN |
13 |
64,236,865 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02257:Hsd17b3
|
APN |
13 |
64,207,276 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03189:Hsd17b3
|
APN |
13 |
64,210,901 (GRCm39) |
critical splice donor site |
probably null |
|
hermine
|
UTSW |
13 |
64,210,720 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02988:Hsd17b3
|
UTSW |
13 |
64,236,914 (GRCm39) |
missense |
probably damaging |
0.96 |
R0116:Hsd17b3
|
UTSW |
13 |
64,206,403 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0659:Hsd17b3
|
UTSW |
13 |
64,221,750 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0684:Hsd17b3
|
UTSW |
13 |
64,236,882 (GRCm39) |
missense |
probably benign |
|
R0834:Hsd17b3
|
UTSW |
13 |
64,236,936 (GRCm39) |
missense |
probably benign |
0.00 |
R3750:Hsd17b3
|
UTSW |
13 |
64,210,993 (GRCm39) |
splice site |
probably null |
|
R3845:Hsd17b3
|
UTSW |
13 |
64,236,876 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3973:Hsd17b3
|
UTSW |
13 |
64,207,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4602:Hsd17b3
|
UTSW |
13 |
64,210,984 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5027:Hsd17b3
|
UTSW |
13 |
64,210,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R5470:Hsd17b3
|
UTSW |
13 |
64,221,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R5897:Hsd17b3
|
UTSW |
13 |
64,236,799 (GRCm39) |
critical splice donor site |
probably null |
|
R5992:Hsd17b3
|
UTSW |
13 |
64,207,284 (GRCm39) |
splice site |
probably null |
|
R6898:Hsd17b3
|
UTSW |
13 |
64,207,339 (GRCm39) |
missense |
probably benign |
0.06 |
R7297:Hsd17b3
|
UTSW |
13 |
64,224,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R7555:Hsd17b3
|
UTSW |
13 |
64,219,816 (GRCm39) |
missense |
probably benign |
0.17 |
R8743:Hsd17b3
|
UTSW |
13 |
64,210,712 (GRCm39) |
missense |
probably benign |
0.00 |
R8786:Hsd17b3
|
UTSW |
13 |
64,219,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R8904:Hsd17b3
|
UTSW |
13 |
64,212,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R8994:Hsd17b3
|
UTSW |
13 |
64,210,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R9324:Hsd17b3
|
UTSW |
13 |
64,206,459 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9649:Hsd17b3
|
UTSW |
13 |
64,212,171 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Hsd17b3
|
UTSW |
13 |
64,210,952 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2015-04-16 |