Incidental Mutation 'R5129:Hsd3b7'
ID |
394905 |
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 |
042717-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5129 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
127399830-127402975 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 127400306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 18
(C18*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046863]
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000106267]
[ENSMUST00000106271]
[ENSMUST00000106272]
[ENSMUST00000138432]
[ENSMUST00000125188]
[ENSMUST00000139068]
[ENSMUST00000154987]
[ENSMUST00000155005]
[ENSMUST00000206674]
|
AlphaFold |
Q9EQC1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000046863
AA Change: C18*
|
SMART Domains |
Protein: ENSMUSP00000036245 Gene: ENSMUSG00000042289 AA Change: C18*
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 null
Transcript: ENSMUST00000106271
AA Change: C18*
|
SMART Domains |
Protein: ENSMUSP00000101878 Gene: ENSMUSG00000042289 AA Change: C18*
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 null
Transcript: ENSMUST00000106272
AA Change: C18*
|
SMART Domains |
Protein: ENSMUSP00000101879 Gene: ENSMUSG00000042289 AA Change: C18*
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 null
Transcript: ENSMUST00000138432
AA Change: C21*
|
SMART Domains |
Protein: ENSMUSP00000114536 Gene: ENSMUSG00000042289 AA Change: C21*
Domain | Start | End | E-Value | Type |
Pfam:3Beta_HSD
|
18 |
78 |
1.3e-15 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124631
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125188
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132702
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136823
|
Predicted Effect |
probably null
Transcript: ENSMUST00000139068
AA Change: C18*
|
SMART Domains |
Protein: ENSMUSP00000121246 Gene: ENSMUSG00000042289 AA Change: C18*
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 null
Transcript: ENSMUST00000155005
AA Change: C18*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206674
AA Change: C18*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136597
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206516
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206995
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
98% (51/52) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
G |
7: 29,260,786 (GRCm39) |
|
noncoding transcript |
Het |
Abcf1 |
C |
T |
17: 36,271,687 (GRCm39) |
|
probably benign |
Het |
Adamts14 |
T |
A |
10: 61,085,397 (GRCm39) |
D209V |
probably benign |
Het |
Aldh3b1 |
A |
G |
19: 3,965,336 (GRCm39) |
F392L |
probably benign |
Het |
Atp1a2 |
A |
T |
1: 172,103,522 (GRCm39) |
D999E |
probably benign |
Het |
Capn7 |
T |
C |
14: 31,066,468 (GRCm39) |
V94A |
probably damaging |
Het |
Cdh13 |
A |
G |
8: 119,821,954 (GRCm39) |
D271G |
probably damaging |
Het |
Cntnap5b |
G |
A |
1: 100,306,815 (GRCm39) |
G844D |
probably damaging |
Het |
Col6a4 |
T |
C |
9: 105,890,576 (GRCm39) |
E1906G |
probably damaging |
Het |
Daw1 |
T |
C |
1: 83,183,624 (GRCm39) |
Y225H |
probably damaging |
Het |
Dvl3 |
T |
A |
16: 20,336,090 (GRCm39) |
M49K |
possibly damaging |
Het |
Eef1b2 |
T |
G |
1: 63,218,739 (GRCm39) |
S175A |
probably damaging |
Het |
Epb41l1 |
A |
T |
2: 156,351,201 (GRCm39) |
Y425F |
possibly damaging |
Het |
Fam43b |
A |
T |
4: 138,122,783 (GRCm39) |
L179* |
probably null |
Het |
Fbxw28 |
A |
G |
9: 109,155,671 (GRCm39) |
L314P |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 53,077,266 (GRCm39) |
D674E |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,379,942 (GRCm39) |
V92A |
possibly damaging |
Het |
Gm3604 |
A |
T |
13: 62,517,588 (GRCm39) |
Y257N |
probably benign |
Het |
Gm5900 |
A |
G |
7: 104,599,223 (GRCm39) |
|
noncoding transcript |
Het |
Hectd4 |
G |
A |
5: 121,481,573 (GRCm39) |
V3041M |
possibly damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,608 (GRCm39) |
K1069E |
probably damaging |
Het |
Hlf |
T |
C |
11: 90,281,078 (GRCm39) |
D38G |
probably benign |
Het |
Kdm5a |
T |
C |
6: 120,381,983 (GRCm39) |
C676R |
probably damaging |
Het |
Klhdc7b |
A |
G |
15: 89,272,751 (GRCm39) |
Y1211C |
probably damaging |
Het |
Krt78 |
C |
A |
15: 101,856,015 (GRCm39) |
V599L |
possibly damaging |
Het |
Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,440,961 (GRCm39) |
L1097P |
probably damaging |
Het |
Nf2 |
A |
C |
11: 4,766,145 (GRCm39) |
D87E |
probably benign |
Het |
Or10d4c |
T |
A |
9: 39,558,790 (GRCm39) |
I256N |
probably benign |
Het |
Or14j2 |
T |
C |
17: 37,886,071 (GRCm39) |
Y81C |
probably damaging |
Het |
Ppil3 |
A |
G |
1: 58,479,992 (GRCm39) |
|
probably benign |
Het |
Prrc2a |
T |
C |
17: 35,379,154 (GRCm39) |
E276G |
unknown |
Het |
Semp2l1 |
C |
A |
1: 32,584,560 (GRCm39) |
R450M |
probably damaging |
Het |
Semp2l1 |
T |
A |
1: 32,584,561 (GRCm39) |
R450W |
probably damaging |
Het |
Spata16 |
A |
G |
3: 26,721,713 (GRCm39) |
E78G |
probably damaging |
Het |
Tlr3 |
A |
T |
8: 45,856,018 (GRCm39) |
I54K |
probably damaging |
Het |
Tmem72 |
A |
G |
6: 116,678,974 (GRCm39) |
L34P |
probably damaging |
Het |
Triobp |
A |
G |
15: 78,845,296 (GRCm39) |
R213G |
probably benign |
Het |
Tyrp1 |
T |
A |
4: 80,764,844 (GRCm39) |
V7D |
probably damaging |
Het |
Uhrf2 |
A |
G |
19: 30,052,621 (GRCm39) |
I372V |
probably benign |
Het |
Uty |
T |
C |
Y: 1,158,592 (GRCm39) |
T484A |
probably benign |
Het |
Vcan |
T |
C |
13: 89,838,359 (GRCm39) |
D2395G |
probably damaging |
Het |
Vmn1r225 |
T |
A |
17: 20,723,378 (GRCm39) |
I273N |
probably damaging |
Het |
Zfp451 |
C |
T |
1: 33,842,014 (GRCm39) |
|
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,441,420 (GRCm39) |
E385G |
probably benign |
Het |
Zfp74 |
C |
T |
7: 29,631,880 (GRCm39) |
M121I |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,220,359 (GRCm39) |
|
probably null |
Het |
Zfp874a |
A |
T |
13: 67,591,100 (GRCm39) |
C195S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGAGCCTTAGTGCTACAG -3'
(R):5'- AGCTGAGGTATCCCAGTCTG -3'
Sequencing Primer
(F):5'- GCTACAGGCACAGAAAACTG -3'
(R):5'- CCAGTCTGGGAAGGGATGG -3'
|
Posted On |
2016-06-21 |