Incidental Mutation 'R4059:Hsd3b7'
| ID |
314384 |
| 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 |
040970-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4059 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127399830-127402975 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127400717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 57
(I57T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046863]
[ENSMUST00000047075]
[ENSMUST00000047157]
[ENSMUST00000106267]
[ENSMUST00000106271]
[ENSMUST00000106272]
[ENSMUST00000125188]
[ENSMUST00000154987]
[ENSMUST00000155005]
[ENSMUST00000206674]
[ENSMUST00000139068]
[ENSMUST00000138432]
|
| AlphaFold |
Q9EQC1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046863
AA Change: I84T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036245
Gene: ENSMUSG00000042289
AA Change: I84T
| 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: I84T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101878
Gene: ENSMUSG00000042289
AA Change: I84T
| 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: I84T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101879
Gene: ENSMUSG00000042289
AA Change: I84T
| 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: I57T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132702
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144748
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206995
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206674
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136597
|
| 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: ENSMUST00000138432
|
| SMART Domains |
Protein: ENSMUSP00000114536
Gene: ENSMUSG00000042289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:3Beta_HSD
|
18 |
78 |
1.3e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.6125 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,821 (GRCm39) |
V301A |
probably benign |
Het |
| Agbl3 |
T |
C |
6: 34,823,834 (GRCm39) |
L833P |
probably damaging |
Het |
| Amph |
T |
C |
13: 19,326,168 (GRCm39) |
S633P |
probably damaging |
Het |
| Aspscr1 |
T |
C |
11: 120,577,505 (GRCm39) |
V60A |
probably benign |
Het |
| Atp13a3 |
C |
A |
16: 30,173,064 (GRCm39) |
C271F |
possibly damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| BC051019 |
C |
T |
7: 109,317,202 (GRCm39) |
W163* |
probably null |
Het |
| Capza1 |
T |
C |
3: 104,732,427 (GRCm39) |
E245G |
probably damaging |
Het |
| Cd81 |
G |
T |
7: 142,619,030 (GRCm39) |
C18F |
probably damaging |
Het |
| Cfap45 |
G |
T |
1: 172,366,056 (GRCm39) |
R303L |
probably benign |
Het |
| Commd9 |
T |
C |
2: 101,725,499 (GRCm39) |
V24A |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,819,174 (GRCm39) |
N1742D |
possibly damaging |
Het |
| Dgat1 |
G |
T |
15: 76,388,371 (GRCm39) |
A182D |
possibly damaging |
Het |
| Dlg4 |
T |
C |
11: 69,917,909 (GRCm39) |
L64P |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
| Epb41l4b |
C |
T |
4: 57,024,337 (GRCm39) |
|
probably null |
Het |
| Fam13c |
T |
C |
10: 70,390,338 (GRCm39) |
L533P |
probably damaging |
Het |
| Fjx1 |
T |
C |
2: 102,281,066 (GRCm39) |
T290A |
possibly damaging |
Het |
| Hid1 |
C |
T |
11: 115,247,565 (GRCm39) |
E278K |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,002,960 (GRCm39) |
K175E |
probably benign |
Het |
| Klhl32 |
T |
C |
4: 24,792,781 (GRCm39) |
T14A |
probably damaging |
Het |
| Krt23 |
T |
C |
11: 99,376,614 (GRCm39) |
T181A |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,154,428 (GRCm39) |
E33G |
probably damaging |
Het |
| Mettl13 |
G |
T |
1: 162,373,755 (GRCm39) |
H165Q |
probably damaging |
Het |
| Mocos |
G |
A |
18: 24,812,447 (GRCm39) |
G447D |
probably damaging |
Het |
| Ngef |
T |
A |
1: 87,413,953 (GRCm39) |
K399N |
probably damaging |
Het |
| Ntrk1 |
A |
G |
3: 87,688,786 (GRCm39) |
L589P |
probably damaging |
Het |
| Or4c104 |
C |
T |
2: 88,586,795 (GRCm39) |
V75I |
probably benign |
Het |
| Pcdha2 |
A |
G |
18: 37,072,935 (GRCm39) |
S189G |
probably benign |
Het |
| Peg10 |
T |
G |
6: 4,756,427 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,414,156 (GRCm39) |
H2808Y |
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,907,087 (GRCm39) |
D668G |
probably damaging |
Het |
| Ptcd2 |
A |
G |
13: 99,481,084 (GRCm39) |
C32R |
probably damaging |
Het |
| Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
| Rhoh |
G |
A |
5: 66,049,931 (GRCm39) |
S67N |
probably benign |
Het |
| Rnd3 |
A |
G |
2: 51,038,760 (GRCm39) |
F43L |
probably damaging |
Het |
| Runx1 |
A |
G |
16: 92,441,134 (GRCm39) |
V225A |
probably benign |
Het |
| Runx1t1 |
T |
C |
4: 13,889,769 (GRCm39) |
V566A |
probably benign |
Het |
| Sall2 |
A |
G |
14: 52,552,028 (GRCm39) |
I387T |
probably damaging |
Het |
| Sec14l1 |
T |
A |
11: 117,040,024 (GRCm39) |
V384D |
possibly damaging |
Het |
| Sh3rf3 |
T |
C |
10: 58,919,355 (GRCm39) |
C491R |
probably damaging |
Het |
| Slc22a27 |
T |
A |
19: 7,856,973 (GRCm39) |
|
probably benign |
Het |
| Spire1 |
A |
G |
18: 67,678,783 (GRCm39) |
S53P |
probably damaging |
Het |
| Tmco3 |
A |
G |
8: 13,370,848 (GRCm39) |
R671G |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,998,123 (GRCm39) |
S555P |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,802,395 (GRCm39) |
S638P |
probably benign |
Het |
| Tspan8 |
C |
T |
10: 115,671,187 (GRCm39) |
R115* |
probably null |
Het |
| Txnrd1 |
A |
G |
10: 82,721,114 (GRCm39) |
E510G |
probably benign |
Het |
| Ucp3 |
T |
C |
7: 100,131,871 (GRCm39) |
Y241H |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,818,339 (GRCm39) |
I831V |
probably benign |
Het |
| Zan |
T |
C |
5: 137,435,082 (GRCm39) |
I2104V |
unknown |
Het |
| Zfp619 |
A |
C |
7: 39,184,823 (GRCm39) |
R284S |
probably benign |
Het |
| Zfp715 |
T |
C |
7: 42,951,155 (GRCm39) |
M48V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTCTCCACCAGACAGAGG -3'
(R):5'- ATCAGGTCAGGACAGGGTTC -3'
Sequencing Primer
(F):5'- CCGGGTGAGTCATTGGTTCATG -3'
(R):5'- TCAGGACAGGGTTCGACAGC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation