Incidental Mutation 'R5793:Hsd11b1'
| ID |
447060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hsd11b1
|
| Ensembl Gene |
ENSMUSG00000016194 |
| Gene Name |
hydroxysteroid 11-beta dehydrogenase 1 |
| Synonyms |
11beta-hydroxysteroid dehydrogenase type 1, 11beta-HSD-1 |
| MMRRC Submission |
043208-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R5793 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
192903948-192946353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 192924492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 27
(F27V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016338]
[ENSMUST00000159644]
[ENSMUST00000160929]
[ENSMUST00000161737]
[ENSMUST00000192322]
[ENSMUST00000194677]
|
| AlphaFold |
P50172 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016338
AA Change: F27V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016338
Gene: ENSMUSG00000016194
AA Change: F27V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
35 |
230 |
1.1e-53 |
PFAM |
|
Pfam:KR
|
36 |
215 |
2.4e-9 |
PFAM |
|
Pfam:adh_short_C2
|
41 |
248 |
3.8e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159644
AA Change: F27V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124693
Gene: ENSMUSG00000016194
AA Change: F27V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:adh_short
|
47 |
214 |
2.1e-32 |
PFAM |
|
Pfam:KR
|
48 |
223 |
1.6e-10 |
PFAM |
|
Pfam:adh_short_C2
|
53 |
221 |
4.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160929
|
| SMART Domains |
Protein: ENSMUSP00000123849
Gene: ENSMUSG00000016194
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
5 |
172 |
1.5e-32 |
PFAM |
|
Pfam:KR
|
6 |
184 |
8.2e-11 |
PFAM |
|
Pfam:adh_short_C2
|
11 |
218 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161406
|
| SMART Domains |
Protein: ENSMUSP00000124142
Gene: ENSMUSG00000016194
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
1 |
72 |
1.2e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161737
AA Change: F27V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125620
Gene: ENSMUSG00000016194
AA Change: F27V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
35 |
202 |
2.6e-32 |
PFAM |
|
Pfam:KR
|
36 |
216 |
1.7e-10 |
PFAM |
|
Pfam:adh_short_C2
|
41 |
248 |
3.2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162842
|
| SMART Domains |
Protein: ENSMUSP00000124715
Gene: ENSMUSG00000016194
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
1 |
132 |
4.4e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192322
|
| SMART Domains |
Protein: ENSMUSP00000141302
Gene: ENSMUSG00000026639
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LamNT
|
20 |
244 |
2.9e-80 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194677
|
| SMART Domains |
Protein: ENSMUSP00000142053
Gene: ENSMUSG00000026639
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
LamNT
|
20 |
248 |
7.63e-84 |
SMART |
|
EGF_Lam
|
250 |
310 |
1.67e-7 |
SMART |
|
EGF_Lam
|
313 |
373 |
1.14e-9 |
SMART |
|
EGF_Lam
|
376 |
425 |
5.56e-13 |
SMART |
|
EGF_Lam
|
428 |
475 |
6.05e-14 |
SMART |
|
EGF_Lam
|
478 |
528 |
5e-6 |
SMART |
|
EGF_Lam
|
531 |
575 |
3.01e-9 |
SMART |
|
low complexity region
|
662 |
673 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
763 |
N/A |
INTRINSIC |
|
coiled coil region
|
830 |
879 |
N/A |
INTRINSIC |
|
coiled coil region
|
949 |
979 |
N/A |
INTRINSIC |
|
coiled coil region
|
1037 |
1090 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1126 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to cortisol. Too much cortisol can lead to central obesity, and a particular variation in this gene has been associated with obesity and insulin resistance in children. Mutations in this gene and H6PD (hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)) are the cause of cortisone reductase deficiency. Alternate splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display improved glucose tolerance and lower circulating lipid levels. Mice homozygous for a different targeted allele exhibit decreased susceptibility to weight gain, adiposis or hyperinsulinemia induced by 11-DHC. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12 |
C |
A |
11: 70,133,879 (GRCm39) |
R522L |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,279,753 (GRCm39) |
D271E |
probably benign |
Het |
| Arg1 |
C |
T |
10: 24,796,540 (GRCm39) |
V96M |
probably benign |
Het |
| Axin1 |
T |
C |
17: 26,362,282 (GRCm39) |
S209P |
probably damaging |
Het |
| B4galnt3 |
A |
G |
6: 120,185,865 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
T |
A |
10: 60,141,907 (GRCm39) |
D3058V |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,728,384 (GRCm39) |
T794A |
probably damaging |
Het |
| Ckap5 |
C |
T |
2: 91,450,180 (GRCm39) |
T1891I |
possibly damaging |
Het |
| Cspg4b |
G |
T |
13: 113,457,556 (GRCm39) |
V1201L |
possibly damaging |
Het |
| Dzank1 |
T |
C |
2: 144,348,144 (GRCm39) |
I207M |
probably benign |
Het |
| Fkbp9 |
G |
A |
6: 56,850,498 (GRCm39) |
|
probably null |
Het |
| Gm4781 |
T |
A |
10: 100,232,529 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtpbp6 |
G |
A |
5: 110,255,094 (GRCm39) |
L33F |
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,434,292 (GRCm39) |
I482N |
possibly damaging |
Het |
| Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
T |
C |
15: 75,093,493 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,653,077 (GRCm39) |
Q1420R |
probably benign |
Het |
| Ncam2 |
G |
A |
16: 81,372,991 (GRCm39) |
V569I |
possibly damaging |
Het |
| Nsd1 |
T |
C |
13: 55,395,819 (GRCm39) |
V1140A |
probably benign |
Het |
| Ogdhl |
T |
A |
14: 32,054,730 (GRCm39) |
L226Q |
probably damaging |
Het |
| Or51a24 |
T |
C |
7: 103,734,237 (GRCm39) |
T17A |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,536,547 (GRCm39) |
M1V |
probably null |
Het |
| Padi2 |
T |
C |
4: 140,660,501 (GRCm39) |
L327P |
probably benign |
Het |
| Palb2 |
T |
C |
7: 121,726,860 (GRCm39) |
N337D |
probably benign |
Het |
| Pard3b |
A |
T |
1: 61,807,132 (GRCm39) |
H49L |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,764,285 (GRCm39) |
S448P |
probably benign |
Het |
| Ppfia4 |
A |
G |
1: 134,239,844 (GRCm39) |
V911A |
probably damaging |
Het |
| Prr5 |
T |
A |
15: 84,656,223 (GRCm39) |
M408K |
probably benign |
Het |
| Qser1 |
T |
C |
2: 104,593,205 (GRCm39) |
Y1604C |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 91,987,400 (GRCm39) |
S886P |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,759,778 (GRCm39) |
I408V |
possibly damaging |
Het |
| Sema7a |
A |
T |
9: 57,867,540 (GRCm39) |
R431W |
probably damaging |
Het |
| Slc22a30 |
T |
A |
19: 8,314,183 (GRCm39) |
Y501F |
possibly damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,917,345 (GRCm39) |
V323D |
probably damaging |
Het |
| Snap47 |
C |
T |
11: 59,329,018 (GRCm39) |
E95K |
probably damaging |
Het |
| Tbc1d9 |
A |
T |
8: 83,998,069 (GRCm39) |
I1209F |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,708,333 (GRCm39) |
M297K |
probably benign |
Het |
| Tmem132e |
T |
A |
11: 82,335,684 (GRCm39) |
I922N |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,506,501 (GRCm39) |
R64G |
probably damaging |
Het |
| Trim68 |
A |
T |
7: 102,333,560 (GRCm39) |
S41T |
possibly damaging |
Het |
| Tsga10 |
A |
T |
1: 37,874,540 (GRCm39) |
M115K |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,221,754 (GRCm39) |
C822Y |
probably damaging |
Het |
| Wdr72 |
C |
T |
9: 74,117,625 (GRCm39) |
A779V |
probably benign |
Het |
| Zfp580 |
A |
T |
7: 5,055,891 (GRCm39) |
|
probably benign |
Het |
| Zfp772 |
G |
A |
7: 7,207,283 (GRCm39) |
T136I |
probably benign |
Het |
|
| Other mutations in Hsd11b1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Hsd11b1
|
APN |
1 |
192,923,766 (GRCm39) |
start codon destroyed |
probably null |
0.43 |
|
IGL00969:Hsd11b1
|
APN |
1 |
192,905,952 (GRCm39) |
nonsense |
probably null |
|
|
IGL02068:Hsd11b1
|
APN |
1 |
192,904,354 (GRCm39) |
nonsense |
probably null |
|
|
IGL02331:Hsd11b1
|
APN |
1 |
192,922,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Hsd11b1
|
UTSW |
1 |
192,922,560 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0207:Hsd11b1
|
UTSW |
1 |
192,922,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0267:Hsd11b1
|
UTSW |
1 |
192,923,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Hsd11b1
|
UTSW |
1 |
192,924,476 (GRCm39) |
intron |
probably benign |
|
|
R0591:Hsd11b1
|
UTSW |
1 |
192,911,984 (GRCm39) |
intron |
probably benign |
|
|
R1244:Hsd11b1
|
UTSW |
1 |
192,906,068 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1569:Hsd11b1
|
UTSW |
1 |
192,922,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1570:Hsd11b1
|
UTSW |
1 |
192,922,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1892:Hsd11b1
|
UTSW |
1 |
192,906,068 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2021:Hsd11b1
|
UTSW |
1 |
192,922,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2022:Hsd11b1
|
UTSW |
1 |
192,922,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2023:Hsd11b1
|
UTSW |
1 |
192,922,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5061:Hsd11b1
|
UTSW |
1 |
192,924,553 (GRCm39) |
missense |
probably benign |
|
|
R5531:Hsd11b1
|
UTSW |
1 |
192,922,557 (GRCm39) |
frame shift |
probably null |
|
|
R5768:Hsd11b1
|
UTSW |
1 |
192,922,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5795:Hsd11b1
|
UTSW |
1 |
192,922,940 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6359:Hsd11b1
|
UTSW |
1 |
192,924,660 (GRCm39) |
intron |
probably benign |
|
|
R8440:Hsd11b1
|
UTSW |
1 |
192,904,420 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCATGACCTCCTTGGCTG -3'
(R):5'- CCCTGATGTCACAATTCAGAGG -3'
Sequencing Primer
(F):5'- CATGACCTCCTTGGCTGTAAGG -3'
(R):5'- TCACAATTCAGAGGCTGCTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation