Incidental Mutation 'R9263:Hsd17b7'
| ID |
702364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd17b7
|
| Ensembl Gene |
ENSMUSG00000026675 |
| Gene Name |
hydroxysteroid (17-beta) dehydrogenase 7 |
| Synonyms |
ERG27 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9263 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
169777104-169796810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 169794833 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 69
(S69P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027989]
[ENSMUST00000111353]
|
| AlphaFold |
O88736 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027989
AA Change: S69P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027989
Gene: ENSMUSG00000026675
AA Change: S69P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
3 |
104 |
2.2e-16 |
PFAM |
|
Pfam:KR
|
4 |
102 |
2.2e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111353
AA Change: S69P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106985
Gene: ENSMUSG00000026675
AA Change: S69P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:KR
|
3 |
103 |
2.3e-8 |
PFAM |
|
Pfam:adh_short
|
3 |
236 |
5.2e-28 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HSD17B7 encodes an enzyme that functions both as a 17-beta-hydroxysteroid dehydrogenase (EC 1.1.1.62) in the biosynthesis of sex steroids and as a 3-ketosteroid reductase (EC 1.1.1.270) in the biosynthesis of cholesterol (Marijanovic et al., 2003 [PubMed 12829805]).[supplied by OMIM, May 2010]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic lethality, abnormal brain development, abnormal branchial arches, pericardial effusion, and abnormal cardiovascular development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c14 |
T |
C |
13: 4,113,620 (GRCm39) |
S51P |
probably damaging |
Het |
| Arhgef38 |
T |
G |
3: 132,866,529 (GRCm39) |
K203Q |
|
Het |
| Cacna1d |
G |
A |
14: 29,796,925 (GRCm39) |
R1517W |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,915,949 (GRCm39) |
M235K |
probably damaging |
Het |
| Cdc42bpg |
T |
C |
19: 6,372,149 (GRCm39) |
S1414P |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,602,891 (GRCm39) |
D395G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,358,945 (GRCm39) |
E255G |
probably benign |
Het |
| Dnaja1 |
T |
A |
4: 40,724,133 (GRCm39) |
M98K |
probably benign |
Het |
| Dnajb7 |
G |
A |
15: 81,292,266 (GRCm39) |
R24C |
probably benign |
Het |
| Dscc1 |
C |
A |
15: 54,947,505 (GRCm39) |
W225L |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,727,223 (GRCm39) |
V590D |
probably benign |
Het |
| Epcam |
A |
G |
17: 87,947,960 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,257,344 (GRCm39) |
Y341C |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,322,728 (GRCm39) |
L1040R |
probably damaging |
Het |
| Gm9639 |
C |
T |
10: 77,630,828 (GRCm39) |
C28Y |
unknown |
Het |
| Igsf1 |
A |
G |
X: 48,884,191 (GRCm39) |
M2T |
possibly damaging |
Het |
| Katnip |
T |
A |
7: 125,469,867 (GRCm39) |
D1445E |
probably damaging |
Het |
| Kmt2d |
TGCTGCTGCTGCTGCTGCTGG |
TG |
15: 98,747,499 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
T |
C |
19: 3,654,190 (GRCm39) |
Y1079C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,457,467 (GRCm39) |
D779G |
probably damaging |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Pacsin1 |
A |
G |
17: 27,923,924 (GRCm39) |
D106G |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,732,790 (GRCm39) |
D682E |
probably benign |
Het |
| Pex6 |
A |
G |
17: 47,023,231 (GRCm39) |
D269G |
probably benign |
Het |
| Rcor1 |
T |
A |
12: 111,078,327 (GRCm39) |
V474E |
|
Het |
| Rdh16 |
A |
G |
10: 127,649,306 (GRCm39) |
D254G |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,418,675 (GRCm39) |
D812E |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,160 (GRCm39) |
S651P |
probably benign |
Het |
| Sec16b |
G |
A |
1: 157,359,748 (GRCm39) |
|
probably benign |
Het |
| Sephs2 |
C |
T |
7: 126,872,122 (GRCm39) |
G324S |
probably damaging |
Het |
| Sirpb1a |
T |
C |
3: 15,481,992 (GRCm39) |
D112G |
probably damaging |
Het |
| Slc25a47 |
C |
G |
12: 108,820,215 (GRCm39) |
T73S |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,799,509 (GRCm39) |
L109H |
probably damaging |
Het |
| Smc2 |
A |
G |
4: 52,470,848 (GRCm39) |
E845G |
possibly damaging |
Het |
| Sstr3 |
G |
T |
15: 78,423,792 (GRCm39) |
N318K |
probably damaging |
Het |
| Suz12 |
A |
G |
11: 79,904,087 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,035,931 (GRCm39) |
I252T |
probably damaging |
Het |
| Syne3 |
T |
C |
12: 104,934,415 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tbx18 |
C |
A |
9: 87,611,521 (GRCm39) |
A170S |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,985,481 (GRCm39) |
N6D |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,720,868 (GRCm39) |
T6852I |
unknown |
Het |
| Tufm |
A |
G |
7: 126,088,100 (GRCm39) |
E201G |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,099,493 (GRCm39) |
P236Q |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,345,289 (GRCm39) |
Y2510C |
possibly damaging |
Het |
|
| Other mutations in Hsd17b7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00809:Hsd17b7
|
APN |
1 |
169,793,324 (GRCm39) |
nonsense |
probably null |
|
|
IGL01923:Hsd17b7
|
APN |
1 |
169,787,035 (GRCm39) |
missense |
probably benign |
|
|
IGL02628:Hsd17b7
|
APN |
1 |
169,792,058 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL02830:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02886:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03064:Hsd17b7
|
APN |
1 |
169,787,287 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL03123:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03139:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03165:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03270:Hsd17b7
|
APN |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03389:Hsd17b7
|
APN |
1 |
169,787,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03098:Hsd17b7
|
UTSW |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03138:Hsd17b7
|
UTSW |
1 |
169,780,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0299:Hsd17b7
|
UTSW |
1 |
169,787,363 (GRCm39) |
splice site |
probably benign |
|
|
R0723:Hsd17b7
|
UTSW |
1 |
169,783,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1301:Hsd17b7
|
UTSW |
1 |
169,788,774 (GRCm39) |
splice site |
probably benign |
|
|
R1449:Hsd17b7
|
UTSW |
1 |
169,787,251 (GRCm39) |
splice site |
probably null |
|
|
R1806:Hsd17b7
|
UTSW |
1 |
169,788,698 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1874:Hsd17b7
|
UTSW |
1 |
169,783,562 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2365:Hsd17b7
|
UTSW |
1 |
169,792,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Hsd17b7
|
UTSW |
1 |
169,788,764 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4859:Hsd17b7
|
UTSW |
1 |
169,794,826 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5644:Hsd17b7
|
UTSW |
1 |
169,783,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5889:Hsd17b7
|
UTSW |
1 |
169,783,487 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8967:Hsd17b7
|
UTSW |
1 |
169,796,685 (GRCm39) |
nonsense |
probably null |
|
|
R9329:Hsd17b7
|
UTSW |
1 |
169,794,875 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCAGACTCCCTCAGCAC -3'
(R):5'- CTTCAGTGGCATTGGGCTAG -3'
Sequencing Primer
(F):5'- GACCTGTCCAGTTTGATTAAATGCC -3'
(R):5'- GCCCTTTGCGGTCGACTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation