Incidental Mutation 'R0968:Shbg'
| ID |
83957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shbg
|
| Ensembl Gene |
ENSMUSG00000005202 |
| Gene Name |
sex hormone binding globulin |
| Synonyms |
|
| MMRRC Submission |
039097-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.276)
|
| Stock # |
R0968 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69505630-69508731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 69508014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 117
(L117P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005334]
[ENSMUST00000092969]
[ENSMUST00000108656]
|
| AlphaFold |
P97497 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005334
AA Change: L117P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000005334
Gene: ENSMUSG00000005202
AA Change: L117P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
LamG
|
68 |
203 |
2.59e-21 |
SMART |
|
LamG
|
249 |
372 |
7.71e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092969
|
| SMART Domains |
Protein: ENSMUSP00000090647
Gene: ENSMUSG00000069835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_10
|
13 |
144 |
1.4e-8 |
PFAM |
|
Pfam:Acetyltransf_7
|
63 |
145 |
3e-11 |
PFAM |
|
Pfam:Acetyltransf_1
|
66 |
146 |
2.2e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108656
|
| SMART Domains |
Protein: ENSMUSP00000104296
Gene: ENSMUSG00000069835
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Acetyltransf_7
|
53 |
144 |
3.2e-10 |
PFAM |
|
Pfam:Acetyltransf_1
|
65 |
146 |
5e-18 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151255
|
| Meta Mutation Damage Score |
0.6450 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.0%
- 20x: 96.7%
|
| Validation Efficiency |
94% (34/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a steroid binding protein that was first described as a plasma protein secreted by the liver but is now thought to participate in the regulation of steroid responses. The encoded protein transports androgens and estrogens in the blood, binding each steroid molecule as a dimer formed from identical or nearly identical monomers. Polymorphisms in this gene have been associated with polycystic ovary syndrome and type 2 diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,967 (GRCm39) |
V719M |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,248,016 (GRCm39) |
S2588G |
probably benign |
Het |
| Acaca |
C |
T |
11: 84,129,859 (GRCm39) |
Q405* |
probably null |
Het |
| Brms1l |
G |
A |
12: 55,912,798 (GRCm39) |
D264N |
possibly damaging |
Het |
| Cabcoco1 |
T |
C |
10: 68,272,202 (GRCm39) |
M254V |
probably benign |
Het |
| Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
G |
C |
16: 4,487,919 (GRCm39) |
|
probably benign |
Het |
| Cylc2 |
A |
G |
4: 51,216,706 (GRCm39) |
M1V |
probably null |
Het |
| Cyp3a11 |
G |
A |
5: 145,799,324 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,906,641 (GRCm39) |
T4224M |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,339,345 (GRCm39) |
E3054G |
possibly damaging |
Het |
| Dnm3 |
A |
G |
1: 161,847,388 (GRCm39) |
|
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,031,749 (GRCm39) |
R42W |
probably damaging |
Het |
| Fgf12 |
T |
C |
16: 27,981,185 (GRCm39) |
N177S |
probably null |
Het |
| Flt3 |
C |
T |
5: 147,278,037 (GRCm39) |
V846I |
possibly damaging |
Het |
| Gm11569 |
A |
T |
11: 99,689,250 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
A |
C |
4: 96,650,303 (GRCm39) |
V181G |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Lars1 |
C |
A |
18: 42,351,648 (GRCm39) |
R852L |
probably benign |
Het |
| Lca5 |
T |
C |
9: 83,305,222 (GRCm39) |
T195A |
probably benign |
Het |
| Lrrc40 |
G |
A |
3: 157,742,426 (GRCm39) |
D14N |
probably damaging |
Het |
| Map4k2 |
T |
C |
19: 6,395,487 (GRCm39) |
S327P |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,169,249 (GRCm39) |
F397L |
probably damaging |
Het |
| Mtus2 |
T |
C |
5: 148,014,994 (GRCm39) |
S596P |
probably benign |
Het |
| Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,359,770 (GRCm39) |
T401A |
probably benign |
Het |
| Pde6a |
A |
T |
18: 61,386,809 (GRCm39) |
E395D |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,357,243 (GRCm39) |
V743A |
probably benign |
Het |
| Pzp |
A |
T |
6: 128,502,108 (GRCm39) |
D80E |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,415,575 (GRCm39) |
C1846S |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Supt20 |
A |
G |
3: 54,615,821 (GRCm39) |
|
probably benign |
Het |
| Vcpip1 |
A |
T |
1: 9,816,604 (GRCm39) |
I593N |
probably damaging |
Het |
|
| Other mutations in Shbg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02212:Shbg
|
APN |
11 |
69,508,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03401:Shbg
|
APN |
11 |
69,505,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Shbg
|
UTSW |
11 |
69,508,415 (GRCm39) |
unclassified |
probably benign |
|
|
R0102:Shbg
|
UTSW |
11 |
69,508,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1569:Shbg
|
UTSW |
11 |
69,508,415 (GRCm39) |
unclassified |
probably benign |
|
|
R1714:Shbg
|
UTSW |
11 |
69,507,983 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1721:Shbg
|
UTSW |
11 |
69,505,798 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4735:Shbg
|
UTSW |
11 |
69,508,326 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4903:Shbg
|
UTSW |
11 |
69,505,912 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4956:Shbg
|
UTSW |
11 |
69,508,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Shbg
|
UTSW |
11 |
69,507,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5543:Shbg
|
UTSW |
11 |
69,507,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Shbg
|
UTSW |
11 |
69,505,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9132:Shbg
|
UTSW |
11 |
69,506,430 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9159:Shbg
|
UTSW |
11 |
69,506,430 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGTGTGTCGCCGAGACAGAC -3'
(R):5'- ACCAAAATCAGCAAGTATGGGAGCC -3'
Sequencing Primer
(F):5'- GACAGACGACCAGGCTG -3'
(R):5'- GAGCCACTGGGCCTCTTAATC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation