Incidental Mutation 'IGL00331:Hsd3b7'
ID |
6253 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hsd3b7
|
Ensembl Gene |
ENSMUSG00000042289 |
Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00331
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
127399830-127402975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127402144 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 263
(L263P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046863]
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000106267]
[ENSMUST00000106271]
[ENSMUST00000106272]
[ENSMUST00000125188]
[ENSMUST00000155005]
[ENSMUST00000154987]
[ENSMUST00000156135]
[ENSMUST00000138432]
[ENSMUST00000139068]
[ENSMUST00000206674]
|
AlphaFold |
Q9EQC1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046863
AA Change: L294P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036245 Gene: ENSMUSG00000042289 AA Change: L294P
Domain | Start | End | E-Value | Type |
Pfam:KR
|
11 |
147 |
3e-10 |
PFAM |
Pfam:RmlD_sub_bind
|
11 |
198 |
8.1e-10 |
PFAM |
Pfam:Polysacc_synt_2
|
12 |
140 |
4.6e-13 |
PFAM |
Pfam:NmrA
|
12 |
142 |
1.9e-9 |
PFAM |
Pfam:Epimerase
|
12 |
215 |
3.2e-25 |
PFAM |
Pfam:GDP_Man_Dehyd
|
13 |
185 |
8.1e-17 |
PFAM |
Pfam:3Beta_HSD
|
13 |
290 |
5.4e-99 |
PFAM |
Pfam:NAD_binding_4
|
14 |
240 |
1.4e-15 |
PFAM |
transmembrane domain
|
312 |
334 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047075
|
SMART Domains |
Protein: ENSMUSP00000047672 Gene: ENSMUSG00000042308
Domain | Start | End | E-Value | Type |
RRM
|
95 |
168 |
7.6e-6 |
SMART |
low complexity region
|
209 |
242 |
N/A |
INTRINSIC |
low complexity region
|
278 |
295 |
N/A |
INTRINSIC |
low complexity region
|
315 |
357 |
N/A |
INTRINSIC |
low complexity region
|
427 |
487 |
N/A |
INTRINSIC |
Blast:SET
|
488 |
976 |
N/A |
BLAST |
low complexity region
|
977 |
1007 |
N/A |
INTRINSIC |
low complexity region
|
1015 |
1079 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1098 |
N/A |
INTRINSIC |
low complexity region
|
1122 |
1152 |
N/A |
INTRINSIC |
low complexity region
|
1157 |
1173 |
N/A |
INTRINSIC |
Blast:SET
|
1193 |
1310 |
2e-24 |
BLAST |
low complexity region
|
1311 |
1368 |
N/A |
INTRINSIC |
low complexity region
|
1369 |
1396 |
N/A |
INTRINSIC |
N-SET
|
1428 |
1567 |
6.75e-64 |
SMART |
SET
|
1577 |
1700 |
3.22e-35 |
SMART |
PostSET
|
1700 |
1716 |
1.16e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000047157
|
SMART Domains |
Protein: ENSMUSP00000037600 Gene: ENSMUSG00000042308
Domain | Start | End | E-Value | Type |
RRM
|
95 |
168 |
7.6e-6 |
SMART |
low complexity region
|
209 |
242 |
N/A |
INTRINSIC |
low complexity region
|
278 |
295 |
N/A |
INTRINSIC |
low complexity region
|
315 |
357 |
N/A |
INTRINSIC |
low complexity region
|
427 |
487 |
N/A |
INTRINSIC |
Blast:SET
|
488 |
976 |
N/A |
BLAST |
low complexity region
|
977 |
1007 |
N/A |
INTRINSIC |
low complexity region
|
1015 |
1079 |
N/A |
INTRINSIC |
low complexity region
|
1087 |
1098 |
N/A |
INTRINSIC |
low complexity region
|
1122 |
1152 |
N/A |
INTRINSIC |
low complexity region
|
1157 |
1173 |
N/A |
INTRINSIC |
Blast:SET
|
1193 |
1310 |
2e-24 |
BLAST |
low complexity region
|
1311 |
1368 |
N/A |
INTRINSIC |
low complexity region
|
1369 |
1396 |
N/A |
INTRINSIC |
N-SET
|
1428 |
1567 |
6.75e-64 |
SMART |
SET
|
1577 |
1700 |
3.22e-35 |
SMART |
PostSET
|
1700 |
1716 |
1.16e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106267
|
SMART Domains |
Protein: ENSMUSP00000101874 Gene: ENSMUSG00000030806
Domain | Start | End | E-Value | Type |
SynN
|
24 |
145 |
1.99e-44 |
SMART |
t_SNARE
|
186 |
253 |
4.32e-24 |
SMART |
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106271
|
SMART Domains |
Protein: ENSMUSP00000101878 Gene: ENSMUSG00000042289
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
10 |
143 |
1.3e-13 |
PFAM |
Pfam:RmlD_sub_bind
|
10 |
186 |
3.7e-10 |
PFAM |
Pfam:KR
|
11 |
140 |
5.7e-10 |
PFAM |
Pfam:Polysacc_synt_2
|
12 |
140 |
2.8e-13 |
PFAM |
Pfam:NmrA
|
12 |
141 |
2.7e-9 |
PFAM |
Pfam:Epimerase
|
12 |
220 |
2.9e-26 |
PFAM |
Pfam:NAD_binding_10
|
13 |
186 |
2.3e-11 |
PFAM |
Pfam:3Beta_HSD
|
13 |
216 |
1e-70 |
PFAM |
Pfam:NAD_binding_4
|
14 |
183 |
1.3e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106272
AA Change: L263P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101879 Gene: ENSMUSG00000042289 AA Change: L263P
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
10 |
143 |
3.7e-13 |
PFAM |
Pfam:RmlD_sub_bind
|
10 |
180 |
2.8e-9 |
PFAM |
Pfam:KR
|
11 |
139 |
1.6e-9 |
PFAM |
Pfam:Polysacc_synt_2
|
12 |
140 |
7.7e-13 |
PFAM |
Pfam:NmrA
|
12 |
141 |
7.3e-9 |
PFAM |
Pfam:Epimerase
|
12 |
215 |
7.1e-26 |
PFAM |
Pfam:NAD_binding_10
|
13 |
179 |
1.1e-10 |
PFAM |
Pfam:3Beta_HSD
|
13 |
188 |
6.1e-70 |
PFAM |
Pfam:NAD_binding_4
|
14 |
187 |
1.5e-17 |
PFAM |
Pfam:3Beta_HSD
|
177 |
261 |
4e-23 |
PFAM |
transmembrane domain
|
281 |
303 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124631
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155005
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136823
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156135
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144748
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136597
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138432
|
SMART Domains |
Protein: ENSMUSP00000114536 Gene: ENSMUSG00000042289
Domain | Start | End | E-Value | Type |
Pfam:3Beta_HSD
|
18 |
78 |
1.3e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139068
|
SMART Domains |
Protein: ENSMUSP00000121246 Gene: ENSMUSG00000042289
Domain | Start | End | E-Value | Type |
Pfam:3Beta_HSD
|
13 |
55 |
2.7e-13 |
PFAM |
Pfam:3Beta_HSD
|
53 |
100 |
3.2e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206995
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] PHENOTYPE: Mice homozygous for a null allele exhibit postnatal lethality, dwarfism, growth retardation, oily and scaly skin, and altered bile salt and lipid homeostasis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
C |
A |
1: 74,320,595 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
T |
A |
18: 59,140,397 (GRCm39) |
|
probably benign |
Het |
Afg3l1 |
T |
A |
8: 124,214,128 (GRCm39) |
F190I |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,618,353 (GRCm39) |
S2800T |
possibly damaging |
Het |
Alox5 |
A |
T |
6: 116,392,478 (GRCm39) |
W348R |
probably damaging |
Het |
Atp13a5 |
G |
A |
16: 29,085,766 (GRCm39) |
Q823* |
probably null |
Het |
Atp6v1b2 |
T |
C |
8: 69,541,586 (GRCm39) |
|
probably null |
Het |
Chuk |
T |
C |
19: 44,076,462 (GRCm39) |
I416M |
possibly damaging |
Het |
Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
Dmbt1 |
A |
T |
7: 130,701,020 (GRCm39) |
Q1066L |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,421,766 (GRCm39) |
T3873A |
probably damaging |
Het |
Endog |
C |
T |
2: 30,062,912 (GRCm39) |
T184M |
probably damaging |
Het |
Fcgbp |
T |
C |
7: 27,800,966 (GRCm39) |
|
probably benign |
Het |
Flii |
A |
G |
11: 60,606,659 (GRCm39) |
I1061T |
probably benign |
Het |
Hdac2 |
T |
A |
10: 36,873,067 (GRCm39) |
N308K |
probably damaging |
Het |
Hoxa2 |
T |
G |
6: 52,140,497 (GRCm39) |
Y163S |
probably damaging |
Het |
Klf17 |
T |
C |
4: 117,618,235 (GRCm39) |
T41A |
probably benign |
Het |
Lrrfip1 |
T |
C |
1: 90,996,343 (GRCm39) |
M42T |
probably damaging |
Het |
Mapk8ip1 |
C |
T |
2: 92,215,533 (GRCm39) |
V614I |
probably benign |
Het |
Mocs1 |
T |
G |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
Moxd1 |
T |
C |
10: 24,158,453 (GRCm39) |
|
probably benign |
Het |
Mterf1a |
T |
C |
5: 3,941,610 (GRCm39) |
E86G |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,574,613 (GRCm39) |
D1021G |
probably benign |
Het |
Nomo1 |
T |
C |
7: 45,694,760 (GRCm39) |
S212P |
possibly damaging |
Het |
Or5b116 |
A |
G |
19: 13,422,988 (GRCm39) |
D204G |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,534 (GRCm39) |
Y60N |
probably damaging |
Het |
Phf21a |
A |
C |
2: 92,178,374 (GRCm39) |
T385P |
probably damaging |
Het |
Piwil4 |
A |
T |
9: 14,626,327 (GRCm39) |
|
probably benign |
Het |
Pknox1 |
T |
C |
17: 31,818,619 (GRCm39) |
|
probably null |
Het |
Prr14l |
T |
C |
5: 32,988,410 (GRCm39) |
I362V |
probably benign |
Het |
Sergef |
C |
T |
7: 46,284,844 (GRCm39) |
|
probably null |
Het |
Sez6l |
T |
C |
5: 112,572,511 (GRCm39) |
D948G |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,053,723 (GRCm39) |
L54Q |
probably damaging |
Het |
Sntn |
C |
T |
14: 13,679,086 (GRCm38) |
Q87* |
probably null |
Het |
Syde2 |
A |
G |
3: 145,720,096 (GRCm39) |
K772E |
possibly damaging |
Het |
Taf2 |
T |
A |
15: 54,934,845 (GRCm39) |
|
probably null |
Het |
Tbc1d13 |
T |
A |
2: 30,030,523 (GRCm39) |
Y113N |
probably damaging |
Het |
Tmem154 |
T |
C |
3: 84,591,722 (GRCm39) |
F91L |
probably benign |
Het |
Tmem63a |
A |
G |
1: 180,794,062 (GRCm39) |
D533G |
possibly damaging |
Het |
Tmprss15 |
A |
T |
16: 78,782,882 (GRCm39) |
N712K |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,708,262 (GRCm39) |
D603E |
probably damaging |
Het |
Trmt11 |
T |
C |
10: 30,442,445 (GRCm39) |
D246G |
probably damaging |
Het |
Vmn1r174 |
T |
A |
7: 23,453,958 (GRCm39) |
M208K |
possibly damaging |
Het |
Wdr54 |
T |
C |
6: 83,132,755 (GRCm39) |
H33R |
probably benign |
Het |
Zfp207 |
A |
G |
11: 80,279,828 (GRCm39) |
D111G |
probably benign |
Het |
|
Other mutations in Hsd3b7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01589:Hsd3b7
|
APN |
7 |
127,402,036 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03037:Hsd3b7
|
APN |
7 |
127,400,322 (GRCm39) |
missense |
probably damaging |
1.00 |
irritated
|
UTSW |
7 |
127,400,306 (GRCm39) |
nonsense |
probably null |
|
R0518:Hsd3b7
|
UTSW |
7 |
127,402,251 (GRCm39) |
missense |
probably benign |
0.01 |
R1801:Hsd3b7
|
UTSW |
7 |
127,402,206 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2860:Hsd3b7
|
UTSW |
7 |
127,401,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R2861:Hsd3b7
|
UTSW |
7 |
127,401,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R4059:Hsd3b7
|
UTSW |
7 |
127,400,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R5129:Hsd3b7
|
UTSW |
7 |
127,400,306 (GRCm39) |
nonsense |
probably null |
|
R5497:Hsd3b7
|
UTSW |
7 |
127,401,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R6143:Hsd3b7
|
UTSW |
7 |
127,400,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R6358:Hsd3b7
|
UTSW |
7 |
127,400,709 (GRCm39) |
missense |
probably damaging |
0.96 |
R6984:Hsd3b7
|
UTSW |
7 |
127,400,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R7067:Hsd3b7
|
UTSW |
7 |
127,399,888 (GRCm39) |
critical splice donor site |
probably null |
|
R7910:Hsd3b7
|
UTSW |
7 |
127,400,419 (GRCm39) |
critical splice donor site |
probably null |
|
R8172:Hsd3b7
|
UTSW |
7 |
127,401,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2012-04-20 |