Incidental Mutation 'R5497:Hsd3b7'
| ID |
432418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd3b7
|
| Ensembl Gene |
ENSMUSG00000042289 |
| Gene Name |
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
| Synonyms |
|
| MMRRC Submission |
043058-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5497 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127399830-127402975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127401060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 99
(Y99C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046863]
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000106267]
[ENSMUST00000106271]
[ENSMUST00000106272]
[ENSMUST00000125188]
[ENSMUST00000139068]
[ENSMUST00000154987]
[ENSMUST00000155005]
[ENSMUST00000206674]
[ENSMUST00000138432]
|
| AlphaFold |
Q9EQC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046863
AA Change: Y126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036245
Gene: ENSMUSG00000042289
AA Change: Y126C
| 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 damaging
Transcript: ENSMUST00000106271
AA Change: Y126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101878
Gene: ENSMUSG00000042289
AA Change: Y126C
| 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: Y126C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101879
Gene: ENSMUSG00000042289
AA Change: Y126C
| 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 |
probably damaging
Transcript: ENSMUST00000125188
AA Change: Y99C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132702
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136823
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000139068
AA Change: Y74C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121246
Gene: ENSMUSG00000042289
AA Change: Y74C
| 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 |
noncoding transcript
Transcript: ENSMUST00000144748
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136597
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206995
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206674
|
| 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 |
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,056,360 (GRCm39) |
M800K |
probably benign |
Het |
| Abca9 |
G |
A |
11: 110,021,518 (GRCm39) |
A1064V |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,172,543 (GRCm39) |
T129S |
possibly damaging |
Het |
| Adamts9 |
A |
T |
6: 92,831,346 (GRCm39) |
C755S |
probably damaging |
Het |
| Adarb1 |
T |
C |
10: 77,161,723 (GRCm39) |
D2G |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,835,518 (GRCm39) |
A1098V |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,966,533 (GRCm39) |
H537R |
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,596,232 (GRCm39) |
C887Y |
probably damaging |
Het |
| Atp6v0a1 |
G |
A |
11: 100,920,011 (GRCm39) |
V215M |
probably damaging |
Het |
| Cacng8 |
A |
G |
7: 3,464,069 (GRCm39) |
E407G |
probably benign |
Het |
| Capn8 |
G |
A |
1: 182,447,745 (GRCm39) |
E535K |
probably benign |
Het |
| Cebpe |
A |
G |
14: 54,948,052 (GRCm39) |
F264L |
probably benign |
Het |
| Ces1c |
A |
C |
8: 93,857,343 (GRCm39) |
N79K |
possibly damaging |
Het |
| Cfap58 |
T |
G |
19: 48,017,548 (GRCm39) |
S803A |
probably benign |
Het |
| Cpa1 |
A |
G |
6: 30,640,729 (GRCm39) |
T124A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,135,195 (GRCm39) |
S1654P |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,665,133 (GRCm39) |
|
probably benign |
Het |
| Eif3e |
T |
C |
15: 43,134,366 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fhip2a |
G |
C |
19: 57,369,583 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
C |
2: 57,915,340 (GRCm39) |
M632T |
probably damaging |
Het |
| Gja8 |
A |
G |
3: 96,827,513 (GRCm39) |
S50P |
probably damaging |
Het |
| Gon7 |
A |
G |
12: 102,720,363 (GRCm39) |
S90P |
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,187,133 (GRCm39) |
V1096I |
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,764,290 (GRCm39) |
N325S |
probably benign |
Het |
| H2-Ob |
A |
G |
17: 34,460,144 (GRCm39) |
D85G |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,435,945 (GRCm39) |
I1161N |
possibly damaging |
Het |
| Hjurp |
G |
A |
1: 88,194,042 (GRCm39) |
H289Y |
possibly damaging |
Het |
| Ifnar1 |
T |
G |
16: 91,302,252 (GRCm39) |
Y21D |
probably benign |
Het |
| Isoc2b |
C |
T |
7: 4,853,782 (GRCm39) |
V131I |
probably benign |
Het |
| Klc3 |
T |
C |
7: 19,128,595 (GRCm39) |
I500V |
probably benign |
Het |
| Lrp5 |
C |
A |
19: 3,652,319 (GRCm39) |
G1184W |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
| Map3k7 |
T |
C |
4: 31,991,719 (GRCm39) |
F319S |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,361,380 (GRCm39) |
T1564A |
probably damaging |
Het |
| Nptx2 |
A |
T |
5: 144,492,999 (GRCm39) |
D362V |
probably damaging |
Het |
| Nutf2-ps1 |
A |
T |
19: 53,577,265 (GRCm39) |
I52N |
probably damaging |
Het |
| Or2aj4 |
C |
T |
16: 19,385,080 (GRCm39) |
M184I |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,447,628 (GRCm39) |
Y2255F |
possibly damaging |
Het |
| Primpol |
A |
T |
8: 47,045,657 (GRCm39) |
Y308* |
probably null |
Het |
| Retreg2 |
G |
A |
1: 75,121,633 (GRCm39) |
V219I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,080,253 (GRCm39) |
E675V |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,720,587 (GRCm39) |
M2687K |
probably null |
Het |
| Shank2 |
A |
G |
7: 143,963,271 (GRCm39) |
D293G |
probably damaging |
Het |
| Snx6 |
A |
G |
12: 54,803,846 (GRCm39) |
V154A |
probably damaging |
Het |
| Srm |
G |
T |
4: 148,678,566 (GRCm39) |
Q264H |
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,281,670 (GRCm39) |
I316N |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,927,163 (GRCm39) |
N103S |
probably benign |
Het |
| Tas2r105 |
G |
A |
6: 131,663,805 (GRCm39) |
|
probably null |
Het |
| Tbcel |
T |
A |
9: 42,363,041 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,203,555 (GRCm39) |
S574G |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,250,824 (GRCm39) |
V783E |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,924,906 (GRCm39) |
Y487N |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zfp980 |
A |
G |
4: 145,428,017 (GRCm39) |
K249E |
probably 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTGCTGTCGAACCCTGTC -3'
(R):5'- AAGTCCCATCTTTGCAGTGTACC -3'
Sequencing Primer
(F):5'- GAACCCTGTCCTGACCTGATG -3'
(R):5'- TTCCATTGGCCTCGAGGAC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation