Incidental Mutation 'R8748:Bscl2'
| ID |
663676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bscl2
|
| Ensembl Gene |
ENSMUSG00000071657 |
| Gene Name |
BSCL2 lipid droplet biogenesis associated, seipin |
| Synonyms |
seipin, Gng3lg |
| MMRRC Submission |
068591-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8748 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8814831-8826047 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8825311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 365
(E365G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086058]
[ENSMUST00000096257]
[ENSMUST00000159634]
[ENSMUST00000159653]
[ENSMUST00000160556]
[ENSMUST00000160897]
[ENSMUST00000171649]
|
| AlphaFold |
Q9Z2E9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086058
AA Change: E305G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000083224
Gene: ENSMUSG00000071657
AA Change: E305G
| 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: ENSMUST00000096257
|
| SMART Domains |
Protein: ENSMUSP00000093976
Gene: ENSMUSG00000071656
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
FN3
|
83 |
162 |
2.81e-5 |
SMART |
|
transmembrane domain
|
194 |
216 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159634
AA Change: E305G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000125422
Gene: ENSMUSG00000071657
AA Change: E305G
| 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 benign
Transcript: ENSMUST00000160556
AA Change: E305G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000123976
Gene: ENSMUSG00000071657
AA Change: E305G
| 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: ENSMUST00000160897
|
| SMART Domains |
Protein: ENSMUSP00000125250
Gene: ENSMUSG00000071657
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Seipin
|
97 |
208 |
2.8e-34 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171649
AA Change: E365G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127685
Gene: ENSMUSG00000071657
AA Change: E365G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
96% (43/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
T |
11: 109,836,597 (GRCm39) |
F1233I |
probably damaging |
Het |
| Acte1 |
T |
C |
7: 143,445,556 (GRCm39) |
I201T |
probably benign |
Het |
| Adgrl2 |
A |
G |
3: 148,532,026 (GRCm39) |
I87T |
|
Het |
| Atr |
A |
G |
9: 95,814,476 (GRCm39) |
M2058V |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,608,634 (GRCm39) |
S77R |
probably benign |
Het |
| Ccdc91 |
T |
C |
6: 147,464,194 (GRCm39) |
I214T |
unknown |
Het |
| Chpf2 |
T |
C |
5: 24,796,821 (GRCm39) |
F589S |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,229 (GRCm39) |
Y2953F |
probably damaging |
Het |
| Cts8 |
A |
T |
13: 61,397,086 (GRCm39) |
V278D |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,392,181 (GRCm39) |
V79A |
probably damaging |
Het |
| Dach1 |
G |
A |
14: 98,065,770 (GRCm39) |
Q686* |
probably null |
Het |
| Daxx |
A |
G |
17: 34,131,138 (GRCm39) |
D355G |
probably damaging |
Het |
| Dmrt3 |
G |
A |
19: 25,588,550 (GRCm39) |
A130T |
probably benign |
Het |
| Eif4ebp2 |
A |
T |
10: 61,270,806 (GRCm39) |
H74Q |
probably benign |
Het |
| Exoc3l |
T |
C |
8: 106,016,777 (GRCm39) |
D679G |
probably damaging |
Het |
| Fam13c |
T |
A |
10: 70,378,516 (GRCm39) |
W349R |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 15,834,161 (GRCm39) |
Y4144N |
possibly damaging |
Het |
| Gm37240 |
A |
G |
3: 84,405,045 (GRCm39) |
*253Q |
probably null |
Het |
| Hycc1 |
T |
A |
5: 24,170,320 (GRCm39) |
D343V |
probably benign |
Het |
| Ildr1 |
A |
C |
16: 36,542,734 (GRCm39) |
E422A |
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,751,337 (GRCm39) |
E1309G |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,368,068 (GRCm39) |
D2231G |
probably benign |
Het |
| Mtnr1a |
T |
C |
8: 45,538,675 (GRCm39) |
S38P |
probably benign |
Het |
| Or10d3 |
C |
G |
9: 39,461,711 (GRCm39) |
G152A |
possibly damaging |
Het |
| Or10d3 |
C |
A |
9: 39,461,712 (GRCm39) |
G152* |
probably null |
Het |
| Or10v5 |
A |
G |
19: 11,805,596 (GRCm39) |
S265P |
probably damaging |
Het |
| Or11h6 |
G |
T |
14: 50,880,211 (GRCm39) |
V152F |
probably benign |
Het |
| Pate13 |
A |
C |
9: 35,820,351 (GRCm39) |
D25A |
probably damaging |
Het |
| Pcdhb9 |
G |
A |
18: 37,535,901 (GRCm39) |
G632S |
probably damaging |
Het |
| Pgr |
C |
A |
9: 8,958,449 (GRCm39) |
L819I |
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,838,148 (GRCm39) |
S448P |
unknown |
Het |
| Pip5k1a |
A |
G |
3: 94,971,695 (GRCm39) |
M471T |
probably benign |
Het |
| Postn |
A |
G |
3: 54,296,760 (GRCm39) |
D758G |
probably damaging |
Het |
| Rbmyf9 |
T |
A |
Y: 3,774,915 (GRCm39) |
|
probably null |
Het |
| Rpl3 |
T |
C |
15: 79,963,902 (GRCm39) |
I280V |
probably benign |
Het |
| Rtl1 |
A |
T |
12: 109,561,492 (GRCm39) |
S116T |
probably benign |
Het |
| Six5 |
A |
G |
7: 18,829,049 (GRCm39) |
H163R |
probably benign |
Het |
| Smarca4 |
A |
G |
9: 21,546,164 (GRCm39) |
D114G |
possibly damaging |
Het |
| Tex46 |
C |
T |
4: 136,337,808 (GRCm39) |
|
probably benign |
Het |
| Tmem144 |
A |
G |
3: 79,743,539 (GRCm39) |
|
probably null |
Het |
| Unc5d |
T |
C |
8: 29,186,453 (GRCm39) |
T617A |
probably benign |
Het |
| Vmn1r74 |
T |
A |
7: 11,580,903 (GRCm39) |
S68T |
probably benign |
Het |
| Zfp184 |
G |
A |
13: 22,144,217 (GRCm39) |
R641Q |
probably benign |
Het |
| Zfp583 |
C |
T |
7: 6,319,419 (GRCm39) |
R531H |
probably benign |
Het |
| Zfp764 |
T |
C |
7: 127,003,862 (GRCm39) |
E423G |
possibly damaging |
Het |
|
| Other mutations in Bscl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01908:Bscl2
|
APN |
19 |
8,822,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTATCCTTGAAGGGTAGGC -3'
(R):5'- TCACCATCACTAGCCTCTGG -3'
Sequencing Primer
(F):5'- CCTTGAAGGGTAGGCTGGCTG -3'
(R):5'- CATTCAGGGGCCGCTTCTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation