Incidental Mutation 'R6898:Hsd17b3'
| ID |
538467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd17b3
|
| Ensembl Gene |
ENSMUSG00000033122 |
| Gene Name |
hydroxysteroid (17-beta) dehydrogenase 3 |
| Synonyms |
17(beta)HSD type 3 |
| MMRRC Submission |
044992-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6898 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
64206080-64237044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 64207339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 234
(Y234C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039832]
[ENSMUST00000166224]
[ENSMUST00000222783]
[ENSMUST00000222810]
|
| AlphaFold |
P70385 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039832
AA Change: Y234C
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000044217
Gene: ENSMUSG00000033122
AA Change: Y234C
| 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: Y234C
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132011
Gene: ENSMUSG00000033122
AA Change: Y234C
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222783
AA Change: Y234C
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222810
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (46/46) |
| 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 |
|---|
| Ankrd7 |
G |
T |
6: 18,868,100 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,975 (GRCm39) |
Y325F |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,970,155 (GRCm39) |
|
probably benign |
Het |
| Capns2 |
T |
C |
8: 93,628,605 (GRCm39) |
S165P |
probably damaging |
Het |
| Col25a1 |
T |
C |
3: 130,378,377 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
T |
C |
1: 93,143,304 (GRCm39) |
V1302A |
probably benign |
Het |
| Cul9 |
C |
A |
17: 46,821,952 (GRCm39) |
R1841M |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,336,584 (GRCm39) |
L1213P |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,631,100 (GRCm39) |
I305K |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,376,193 (GRCm39) |
E1326G |
possibly damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,305,617 (GRCm39) |
V26E |
probably benign |
Het |
| Emc9 |
A |
G |
14: 55,822,367 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
A |
C |
15: 75,996,126 (GRCm39) |
S252A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,639,572 (GRCm39) |
T1830S |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,179,485 (GRCm39) |
M2974K |
probably damaging |
Het |
| Gdpd3 |
C |
A |
7: 126,370,201 (GRCm39) |
S250* |
probably null |
Het |
| Gnl3 |
A |
T |
14: 30,735,136 (GRCm39) |
S485R |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Lima1 |
T |
C |
15: 99,679,148 (GRCm39) |
H271R |
possibly damaging |
Het |
| Nfu1 |
G |
A |
6: 86,994,034 (GRCm39) |
|
probably null |
Het |
| Noto |
A |
G |
6: 85,404,942 (GRCm39) |
E97G |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,779,534 (GRCm39) |
K348E |
probably damaging |
Het |
| Or2y13 |
G |
A |
11: 49,414,536 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
C |
T |
2: 89,324,594 (GRCm39) |
G21R |
possibly damaging |
Het |
| Osmr |
C |
A |
15: 6,845,364 (GRCm39) |
V801F |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,824,234 (GRCm39) |
E554G |
probably benign |
Het |
| Pitrm1 |
T |
C |
13: 6,605,495 (GRCm39) |
L175P |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,382,053 (GRCm39) |
N214K |
probably damaging |
Het |
| Pramel7 |
T |
C |
2: 87,320,070 (GRCm39) |
T408A |
probably damaging |
Het |
| Serinc2 |
A |
T |
4: 130,149,235 (GRCm39) |
D322E |
probably benign |
Het |
| Setx |
T |
C |
2: 29,038,120 (GRCm39) |
V1535A |
probably benign |
Het |
| Sgce |
A |
T |
6: 4,689,666 (GRCm39) |
V389E |
probably damaging |
Het |
| Snx11 |
G |
A |
11: 96,659,888 (GRCm39) |
T267I |
probably benign |
Het |
| Spata6l |
T |
G |
19: 28,921,688 (GRCm39) |
Q146P |
probably benign |
Het |
| Specc1 |
G |
A |
11: 62,009,162 (GRCm39) |
S306N |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
| St7 |
T |
A |
6: 17,854,945 (GRCm39) |
V294D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,880,920 (GRCm39) |
R624Q |
probably benign |
Het |
| Tcf21 |
T |
C |
10: 22,695,403 (GRCm39) |
I134V |
probably benign |
Het |
| Tgfb2 |
T |
A |
1: 186,364,697 (GRCm39) |
I266F |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,365 (GRCm39) |
I209M |
possibly damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,387,034 (GRCm39) |
|
probably null |
Het |
| Toe1 |
A |
G |
4: 116,664,671 (GRCm39) |
S16P |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,279,601 (GRCm39) |
V38A |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,224,557 (GRCm39) |
D1001E |
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 |
|
IGL02745:Hsd17b3
|
APN |
13 |
64,234,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGTCCCACTAGCACAG -3'
(R):5'- TCCAGTTTTGTACCAGCTTTGG -3'
Sequencing Primer
(F):5'- TGTCCCACTAGCACAGAAGAG -3'
(R):5'- ACCAGCTTTGGGTCTTTAATCAAGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation