Incidental Mutation 'IGL01589:Hsd3b7'
ID |
91531 |
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 # |
IGL01589
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
127399830-127402975 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 127402036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 227
(F227S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101879
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046863]
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000106267]
[ENSMUST00000106271]
[ENSMUST00000106272]
[ENSMUST00000125188]
[ENSMUST00000154987]
[ENSMUST00000206674]
[ENSMUST00000155005]
[ENSMUST00000156135]
[ENSMUST00000138432]
[ENSMUST00000139068]
|
AlphaFold |
Q9EQC1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046863
AA Change: F258S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000036245 Gene: ENSMUSG00000042289 AA Change: F258S
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
AA Change: S204P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000101878 Gene: ENSMUSG00000042289 AA Change: S204P
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: F227S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101879 Gene: ENSMUSG00000042289 AA Change: F227S
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 |
noncoding transcript
Transcript: ENSMUST00000124631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206995
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136823
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125188
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154987
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206674
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132702
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144748
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155005
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136597
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156135
|
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 |
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,046,003 (GRCm39) |
F307S |
probably damaging |
Het |
Abcc6 |
A |
T |
7: 45,652,096 (GRCm39) |
|
probably benign |
Het |
Adamts12 |
T |
A |
15: 11,311,323 (GRCm39) |
D1193E |
probably benign |
Het |
Akap6 |
T |
A |
12: 53,186,447 (GRCm39) |
L1287H |
probably damaging |
Het |
Ascl3 |
A |
G |
7: 109,327,245 (GRCm39) |
S25P |
probably benign |
Het |
Brd2 |
A |
G |
17: 34,336,016 (GRCm39) |
S66P |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,271,960 (GRCm39) |
|
probably benign |
Het |
Cdc5l |
T |
C |
17: 45,715,602 (GRCm39) |
Y670C |
probably damaging |
Het |
Clybl |
T |
A |
14: 122,608,834 (GRCm39) |
I142N |
probably damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,172,379 (GRCm39) |
|
probably null |
Het |
Dck |
C |
T |
5: 88,922,095 (GRCm39) |
|
probably benign |
Het |
Dsg1b |
T |
C |
18: 20,542,651 (GRCm39) |
Y1053H |
probably damaging |
Het |
Gm9912 |
T |
C |
3: 148,890,986 (GRCm39) |
D49G |
unknown |
Het |
Gpr107 |
T |
C |
2: 31,057,163 (GRCm39) |
|
probably benign |
Het |
Lrrtm2 |
T |
A |
18: 35,345,851 (GRCm39) |
N484Y |
probably damaging |
Het |
Muc19 |
A |
T |
15: 91,754,699 (GRCm39) |
|
noncoding transcript |
Het |
Nodal |
G |
A |
10: 61,254,176 (GRCm39) |
R33Q |
probably benign |
Het |
Or1a1 |
T |
C |
11: 74,086,587 (GRCm39) |
L86P |
probably damaging |
Het |
Plcb4 |
A |
G |
2: 135,809,038 (GRCm39) |
I569V |
probably benign |
Het |
Plekhg1 |
T |
C |
10: 3,913,631 (GRCm39) |
Y1118H |
probably benign |
Het |
Polr2a |
T |
G |
11: 69,632,020 (GRCm39) |
E1015D |
probably benign |
Het |
Recql5 |
A |
G |
11: 115,785,495 (GRCm39) |
F667S |
probably damaging |
Het |
Scube1 |
T |
C |
15: 83,496,754 (GRCm39) |
Y749C |
probably damaging |
Het |
Serpinb1c |
C |
A |
13: 33,070,155 (GRCm39) |
V136F |
probably damaging |
Het |
Slain2 |
T |
C |
5: 73,098,789 (GRCm39) |
|
probably benign |
Het |
Slc10a7 |
T |
C |
8: 79,456,369 (GRCm39) |
S296P |
probably damaging |
Het |
Sspo |
C |
T |
6: 48,428,112 (GRCm39) |
R320W |
probably damaging |
Het |
Usp16 |
G |
A |
16: 87,276,071 (GRCm39) |
A469T |
probably benign |
Het |
Vmn2r102 |
A |
T |
17: 19,899,066 (GRCm39) |
L469F |
probably benign |
Het |
Zfp772 |
A |
G |
7: 7,208,523 (GRCm39) |
F107S |
possibly damaging |
Het |
|
Other mutations in Hsd3b7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00331:Hsd3b7
|
APN |
7 |
127,402,144 (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 |
2013-12-09 |