Incidental Mutation 'IGL01908:Bscl2'
| ID |
179736 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bscl2
|
| Ensembl Gene |
ENSMUSG00000071657 |
| Gene Name |
BSCL2 lipid droplet biogenesis associated, seipin |
| Synonyms |
seipin, Gng3lg |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01908
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
8814831-8826047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8822640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 134
(T134A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086058]
[ENSMUST00000159634]
[ENSMUST00000159653]
[ENSMUST00000160556]
[ENSMUST00000160897]
[ENSMUST00000171649]
|
| AlphaFold |
Q9Z2E9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086058
AA Change: T134A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000083224
Gene: ENSMUSG00000071657
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seipin
|
37 |
243 |
3.9e-71 |
PFAM |
|
Blast:PAC
|
269 |
306 |
4e-7 |
BLAST |
|
low complexity region
|
353 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159571
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159634
AA Change: T134A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125422
Gene: ENSMUSG00000071657
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seipin
|
37 |
243 |
3.9e-71 |
PFAM |
|
Blast:PAC
|
269 |
306 |
4e-7 |
BLAST |
|
low complexity region
|
353 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159653
|
| SMART Domains |
Protein: ENSMUSP00000123920
Gene: ENSMUSG00000071657
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seipin
|
1 |
97 |
1.2e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160556
AA Change: T134A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123976
Gene: ENSMUSG00000071657
AA Change: T134A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seipin
|
37 |
243 |
3.9e-71 |
PFAM |
|
Blast:PAC
|
269 |
306 |
4e-7 |
BLAST |
|
low complexity region
|
353 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160897
AA Change: T194A
|
| SMART Domains |
Protein: ENSMUSP00000125250
Gene: ENSMUSG00000071657
AA Change: T194A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seipin
|
97 |
208 |
2.8e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162071
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171649
AA Change: T194A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127685
Gene: ENSMUSG00000071657
AA Change: T194A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seipin
|
99 |
302 |
8.5e-66 |
PFAM |
|
Blast:PAC
|
329 |
366 |
2e-6 |
BLAST |
|
low complexity region
|
413 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162580
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe generalized lipodystrophy with hepatic steatosis, glucose intolerance, and insulin resistance. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1 |
G |
T |
6: 48,883,690 (GRCm39) |
R522L |
probably damaging |
Het |
| Asic5 |
G |
T |
3: 81,913,877 (GRCm39) |
G184* |
probably null |
Het |
| Bcr |
T |
A |
10: 74,897,705 (GRCm39) |
I283N |
possibly damaging |
Het |
| Clip1 |
A |
G |
5: 123,761,270 (GRCm39) |
|
probably benign |
Het |
| Clnk |
T |
A |
5: 38,870,485 (GRCm39) |
N358Y |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,770,075 (GRCm39) |
V256E |
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,601 (GRCm39) |
S270R |
probably benign |
Het |
| Dhx57 |
G |
T |
17: 80,558,872 (GRCm39) |
P1029H |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,783,861 (GRCm39) |
M277T |
possibly damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,299,728 (GRCm39) |
K874R |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,658,295 (GRCm39) |
L627Q |
probably damaging |
Het |
| Ghr |
A |
T |
15: 3,349,929 (GRCm39) |
C416* |
probably null |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Kif13b |
T |
C |
14: 64,995,007 (GRCm39) |
C920R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,592,816 (GRCm39) |
T3768A |
probably benign |
Het |
| Luzp2 |
T |
G |
7: 54,821,944 (GRCm39) |
S154A |
probably damaging |
Het |
| Or52p1 |
A |
T |
7: 104,266,906 (GRCm39) |
T7S |
probably damaging |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
T |
A |
12: 11,508,592 (GRCm39) |
V838D |
probably damaging |
Het |
| Sbf1 |
A |
T |
15: 89,186,929 (GRCm39) |
D816E |
probably damaging |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Stim1 |
T |
C |
7: 102,084,857 (GRCm39) |
V603A |
probably benign |
Het |
| Tinagl1 |
G |
T |
4: 130,061,223 (GRCm39) |
T309K |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,957,029 (GRCm39) |
A799V |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,943 (GRCm39) |
L245P |
probably damaging |
Het |
| Vmn1r40 |
T |
G |
6: 89,691,291 (GRCm39) |
V36G |
probably damaging |
Het |
| Vmn1r40 |
C |
T |
6: 89,691,285 (GRCm39) |
A34V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Bscl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03206:Bscl2
|
APN |
19 |
8,820,453 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0193:Bscl2
|
UTSW |
19 |
8,824,793 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1112:Bscl2
|
UTSW |
19 |
8,817,098 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1513:Bscl2
|
UTSW |
19 |
8,818,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Bscl2
|
UTSW |
19 |
8,822,684 (GRCm39) |
splice site |
probably null |
|
|
R2121:Bscl2
|
UTSW |
19 |
8,817,146 (GRCm39) |
nonsense |
probably null |
|
|
R2140:Bscl2
|
UTSW |
19 |
8,822,684 (GRCm39) |
splice site |
probably null |
|
|
R2142:Bscl2
|
UTSW |
19 |
8,822,684 (GRCm39) |
splice site |
probably null |
|
|
R2483:Bscl2
|
UTSW |
19 |
8,818,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3623:Bscl2
|
UTSW |
19 |
8,818,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4177:Bscl2
|
UTSW |
19 |
8,817,120 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4675:Bscl2
|
UTSW |
19 |
8,825,523 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4967:Bscl2
|
UTSW |
19 |
8,825,344 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5051:Bscl2
|
UTSW |
19 |
8,822,643 (GRCm39) |
nonsense |
probably null |
|
|
R5446:Bscl2
|
UTSW |
19 |
8,823,564 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6493:Bscl2
|
UTSW |
19 |
8,817,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Bscl2
|
UTSW |
19 |
8,818,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Bscl2
|
UTSW |
19 |
8,825,878 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7401:Bscl2
|
UTSW |
19 |
8,823,914 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7923:Bscl2
|
UTSW |
19 |
8,824,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8249:Bscl2
|
UTSW |
19 |
8,823,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8332:Bscl2
|
UTSW |
19 |
8,823,594 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8748:Bscl2
|
UTSW |
19 |
8,825,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8870:Bscl2
|
UTSW |
19 |
8,824,793 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8926:Bscl2
|
UTSW |
19 |
8,825,348 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9249:Bscl2
|
UTSW |
19 |
8,820,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9691:Bscl2
|
UTSW |
19 |
8,817,110 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation