Mutagenetix > Incidental Mutation

Incidental Mutation 'R4967:Bscl2'

444559

Institutional Source

Beutler Lab

Gene Symbol

Bscl2

Ensembl Gene

ENSMUSG00000071657

Gene Name

BSCL2 lipid droplet biogenesis associated, seipin

Synonyms

seipin, Gng3lg

MMRRC Submission

042563-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4967 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8814831-8826047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 8825344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 376 (T376K)

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: T316K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000083224
Gene: ENSMUSG00000071657
AA Change: T316K

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

noncoding transcript
Transcript: ENSMUST00000159571

Predicted Effect

probably benign
Transcript: ENSMUST00000159634
AA Change: T316K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000125422
Gene: ENSMUSG00000071657
AA Change: T316K

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: T316K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000123976
Gene: ENSMUSG00000071657
AA Change: T316K

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

noncoding transcript
Transcript: ENSMUST00000162071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162580

Predicted Effect

probably benign
Transcript: ENSMUST00000171649
AA Change: T376K

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000127685
Gene: ENSMUSG00000071657
AA Change: T376K

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

Meta Mutation Damage Score

0.1511

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (102/102)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	T	12: 72,956,502 (GRCm39)	Y199*	probably null	Het
Adhfe1	A	T	1: 9,637,029 (GRCm39)	I394F	probably benign	Het
Arhgap26	G	T	18: 39,379,893 (GRCm39)	R485L	probably damaging	Het
Atat1	T	A	17: 36,212,467 (GRCm39)	N231I	probably damaging	Het
B4galnt2	T	C	11: 95,760,100 (GRCm39)	N309S	probably benign	Het
Bank1	A	T	3: 135,772,134 (GRCm39)	F499I	probably damaging	Het
Bcl9l	A	G	9: 44,416,365 (GRCm39)	D146G	possibly damaging	Het
Bglap3	A	T	3: 88,283,671 (GRCm39)		probably benign	Het
Cercam	A	T	2: 29,761,033 (GRCm39)		probably null	Het
Clec4f	C	T	6: 83,633,012 (GRCm39)	M1I	probably null	Het
Clec4n	A	T	6: 123,209,066 (GRCm39)	I14F	probably benign	Het
Cmya5	T	C	13: 93,227,093 (GRCm39)	E2665G	probably damaging	Het
Cog4	T	A	8: 111,578,915 (GRCm39)		probably null	Het
Cubn	A	G	2: 13,352,856 (GRCm39)	F1961L	probably benign	Het
Cyp4a29	A	T	4: 115,104,196 (GRCm39)	H88L	probably benign	Het
Dhdh	A	G	7: 45,128,530 (GRCm39)	L216P	probably damaging	Het
Dpp6	T	C	5: 27,871,509 (GRCm39)	F544S	probably damaging	Het
Dthd1	C	T	5: 63,045,549 (GRCm39)	T771I	probably benign	Het
Emc10	A	G	7: 44,142,612 (GRCm39)		probably null	Het
Fgg	A	T	3: 82,920,072 (GRCm39)	T284S	probably benign	Het
Gask1a	C	T	9: 121,794,784 (GRCm39)	R313W	probably damaging	Het
Gm3002	T	A	14: 3,824,737 (GRCm38)	N24K	probably damaging	Het
Gm8674	G	A	13: 50,056,034 (GRCm39)		noncoding transcript	Het
Gpr63	G	A	4: 25,008,368 (GRCm39)	W364*	probably null	Het
Hcn4	C	G	9: 58,767,111 (GRCm39)	P891A	unknown	Het
Hcrtr1	A	T	4: 130,024,792 (GRCm39)	F365I	possibly damaging	Het
Hmcn2	A	G	2: 31,244,176 (GRCm39)		probably null	Het
Hoxc5	T	A	15: 102,923,786 (GRCm39)	L194H	probably damaging	Het
Ifna11	A	G	4: 88,738,287 (GRCm39)	N31S	probably null	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Iqgap2	A	T	13: 95,766,514 (GRCm39)	D1496E	probably benign	Het
Kif28	G	T	1: 179,536,007 (GRCm39)	Q556K	probably damaging	Het
Klhl42	C	T	6: 147,009,502 (GRCm39)	T447I	possibly damaging	Het
Lrp1b	A	C	2: 41,678,986 (GRCm39)	D35E	probably damaging	Het
Lsm14b	A	G	2: 179,675,692 (GRCm39)		probably benign	Het
Map3k1	T	C	13: 111,909,272 (GRCm39)	E226G	probably damaging	Het
Map3k14	T	A	11: 103,130,357 (GRCm39)	N187Y	probably benign	Het
Mcm6	A	T	1: 128,263,586 (GRCm39)	V645E	probably damaging	Het
Mdh1b	G	T	1: 63,759,022 (GRCm39)	P190Q	probably damaging	Het
Meiob	T	G	17: 25,037,353 (GRCm39)	L77R	probably damaging	Het
Mrgpra3	A	T	7: 47,239,267 (GRCm39)	F220I	probably benign	Het
Mrtfa	C	A	15: 80,929,476 (GRCm39)		probably benign	Het
Mtor	T	A	4: 148,575,817 (GRCm39)	S1324T	possibly damaging	Het
Myot	T	A	18: 44,487,995 (GRCm39)	D437E	possibly damaging	Het
Ncoa6	G	T	2: 155,263,252 (GRCm39)	T394K	possibly damaging	Het
Nf1	T	A	11: 79,456,379 (GRCm39)		probably null	Het
Nup210	T	A	6: 91,013,451 (GRCm39)	T1190S	possibly damaging	Het
Odf1	T	A	15: 38,226,652 (GRCm39)	I184N	probably damaging	Het
Or10d1	C	T	9: 39,484,054 (GRCm39)	C167Y	probably damaging	Het
Or13d1	T	C	4: 52,970,960 (GRCm39)	V113A	possibly damaging	Het
Or1n1b	A	G	2: 36,780,719 (GRCm39)	I47T	probably damaging	Het
Or5k15	G	T	16: 58,709,957 (GRCm39)	Q209K	possibly damaging	Het
Padi1	A	G	4: 140,572,901 (GRCm39)	V21A	probably benign	Het
Pdzrn3	C	T	6: 101,128,551 (GRCm39)	R705H	probably damaging	Het
Pik3cb	T	C	9: 98,987,685 (GRCm39)	I18V	probably benign	Het
Pmpca	T	C	2: 26,280,320 (GRCm39)	S117P	probably damaging	Het
Poteg	T	A	8: 27,985,009 (GRCm39)		probably benign	Het
Pramel32	T	C	4: 88,547,432 (GRCm39)	T80A	probably damaging	Het
Rab30	G	A	7: 92,478,771 (GRCm39)	R72H	probably damaging	Het
Ramp2	T	A	11: 101,138,383 (GRCm39)		probably null	Het
Rbks	G	A	5: 31,781,876 (GRCm39)	T308I	probably damaging	Het
Rnf112	A	G	11: 61,343,752 (GRCm39)		probably benign	Het
Rnf38	G	A	4: 44,152,460 (GRCm39)	P3S	probably damaging	Het
Sec16a	A	G	2: 26,302,883 (GRCm39)	S2344P	probably benign	Het
Slc16a8	C	T	15: 79,137,084 (GRCm39)	V109M	possibly damaging	Het
Slc28a1	A	T	7: 80,791,757 (GRCm39)	T308S	possibly damaging	Het
Slc39a3	T	C	10: 80,867,453 (GRCm39)	T98A	possibly damaging	Het
Smarcc2	T	C	10: 128,319,049 (GRCm39)	F731L	probably damaging	Het
Smc4	A	G	3: 68,925,572 (GRCm39)		probably benign	Het
Sparcl1	T	G	5: 104,240,776 (GRCm39)	D216A	probably damaging	Het
Speg	G	A	1: 75,364,513 (GRCm39)	R192H	probably damaging	Het
Sspo	T	C	6: 48,441,539 (GRCm39)	L1892P	probably damaging	Het
Styxl2	A	T	1: 165,954,675 (GRCm39)	V25E	probably damaging	Het
Tacc2	A	G	7: 130,225,678 (GRCm39)	N807D	probably damaging	Het
Teddm1a	A	T	1: 153,767,979 (GRCm39)	K148*	probably null	Het
Tex15	T	A	8: 34,064,498 (GRCm39)	D1309E	probably benign	Het
Thbs1	A	T	2: 117,945,259 (GRCm39)	E277D	probably benign	Het
Ticrr	G	A	7: 79,310,158 (GRCm39)	R24Q	probably damaging	Het
Tigd4	A	G	3: 84,502,460 (GRCm39)	E459G	probably benign	Het
Tln2	C	A	9: 67,262,407 (GRCm39)	A615S	probably damaging	Het
Tmprss5	T	C	9: 49,026,817 (GRCm39)	V410A	probably damaging	Het
Tnrc6a	G	T	7: 122,789,095 (GRCm39)	W1638L	probably damaging	Het
Tpr	A	G	1: 150,285,810 (GRCm39)	D424G	probably damaging	Het
Trim34a	A	T	7: 103,910,271 (GRCm39)	K358*	probably null	Het
Tssk5	T	A	15: 76,258,856 (GRCm39)	D10V	possibly damaging	Het
Usp35	A	C	7: 96,962,782 (GRCm39)	L470R	probably damaging	Het
Usp42	T	C	5: 143,701,119 (GRCm39)	D968G	possibly damaging	Het
Utrn	A	G	10: 12,331,164 (GRCm39)	V2924A	probably damaging	Het
Wdtc1	C	A	4: 133,021,654 (GRCm39)	A627S	probably damaging	Het
Xrra1	A	G	7: 99,555,730 (GRCm39)	T366A	probably damaging	Het
Zfp712	T	A	13: 67,188,773 (GRCm39)	K585*	probably null	Het
Zfp97	T	A	17: 17,365,393 (GRCm39)	N297K	probably damaging	Het
Zfp97	G	T	17: 17,364,938 (GRCm39)	E146*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TATCCTTGAAGGGTAGGCTGGC -3'
(R):5'- TCACCATCACTAGCCTCTGG -3'

Sequencing Primer
(F):5'- TGCCTCCACTATGAAGTATGCAG -3'
(R):5'- GCCTCTGGCTCTTGCTC -3'

Posted On

2016-11-16