Mutagenetix > Incidental Mutation

Incidental Mutation 'R7117:Bscl2'

551897

Institutional Source

Beutler Lab

Gene Symbol

Bscl2

Ensembl Gene

ENSMUSG00000071657

Gene Name

BSCL2 lipid droplet biogenesis associated, seipin

Synonyms

seipin, Gng3lg

MMRRC Submission

045208-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8814831-8826047 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8825878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 421 (A421T)

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: A361T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000083224
Gene: ENSMUSG00000071657
AA Change: A361T

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: A361T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000125422
Gene: ENSMUSG00000071657
AA Change: A361T

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: A361T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123976
Gene: ENSMUSG00000071657
AA Change: A361T

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

possibly damaging
Transcript: ENSMUST00000171649
AA Change: A421T

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127685
Gene: ENSMUSG00000071657
AA Change: A421T

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

0.0702

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (95/98)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,339,250 (GRCm39)	Y254C	probably benign	Het
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adam12	T	C	7: 133,518,191 (GRCm39)	I650V	probably benign	Het
Adam39	G	T	8: 41,279,279 (GRCm39)	G557C	probably damaging	Het
Ak5	A	G	3: 152,321,493 (GRCm39)		probably null	Het
Arhgef10l	C	T	4: 140,291,497 (GRCm39)		probably null	Het
Arhgef37	C	T	18: 61,637,481 (GRCm39)	E394K	probably benign	Het
Baz2b	A	G	2: 59,742,841 (GRCm39)	V13A		Het
Bnc1	G	T	7: 81,623,109 (GRCm39)	A706E	possibly damaging	Het
Btn1a1	A	C	13: 23,643,415 (GRCm39)	W345G	possibly damaging	Het
C3	A	T	17: 57,519,655 (GRCm39)	M1199K	probably benign	Het
Ccdc18	T	G	5: 108,296,835 (GRCm39)	L213V	possibly damaging	Het
Cers2	T	C	3: 95,228,072 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,316,711 (GRCm39)	H249L	probably damaging	Het
Cited2	A	G	10: 17,600,364 (GRCm39)	E224G	possibly damaging	Het
Cntn5	T	A	9: 10,904,704 (GRCm39)		probably benign	Het
Col28a1	A	G	6: 8,013,122 (GRCm39)	S977P	possibly damaging	Het
Col6a1	T	C	10: 76,560,843 (GRCm39)	K52E	probably damaging	Het
Cpne2	T	A	8: 95,282,172 (GRCm39)	H239Q	probably damaging	Het
Cr2	A	T	1: 194,842,909 (GRCm39)	N244K	possibly damaging	Het
Csf2rb2	T	C	15: 78,169,385 (GRCm39)	D590G	probably damaging	Het
Defb25	A	C	2: 152,464,380 (GRCm39)	C55G	probably damaging	Het
Dnah7b	A	T	1: 46,391,973 (GRCm39)		probably null	Het
Dvl3	T	A	16: 20,346,072 (GRCm39)	Y467*	probably null	Het
Elapor2	T	A	5: 9,495,384 (GRCm39)	C729*	probably null	Het
Extl2	T	C	3: 115,821,088 (GRCm39)	S312P	probably damaging	Het
Fam178b	T	C	1: 36,639,548 (GRCm39)	T313A	probably benign	Het
Fam186b	A	G	15: 99,183,471 (GRCm39)	Y58H	probably damaging	Het
Fat1	A	T	8: 45,484,505 (GRCm39)	I3248L	probably damaging	Het
Fat2	A	G	11: 55,172,088 (GRCm39)	F2875S	probably damaging	Het
Flnb	T	A	14: 7,894,214 (GRCm38)	N760K	probably benign	Het
Galnt14	T	C	17: 73,801,190 (GRCm39)	H544R	probably benign	Het
Gpr137c	A	C	14: 45,516,484 (GRCm39)	R357S	probably damaging	Het
Grk2	A	G	19: 4,340,630 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,577,055 (GRCm39)	T342S	probably benign	Het
Hjv	G	T	3: 96,435,542 (GRCm39)	V267L	possibly damaging	Het
Ildr2	G	T	1: 166,123,380 (GRCm39)	G270C	probably damaging	Het
Insm2	C	A	12: 55,647,357 (GRCm39)	A367D	probably damaging	Het
Kcnh5	T	A	12: 75,161,219 (GRCm39)	I230F	possibly damaging	Het
Keg1	T	A	19: 12,687,042 (GRCm39)	S24T	probably damaging	Het
Kera	A	T	10: 97,448,714 (GRCm39)	E311D	probably benign	Het
Kit	T	A	5: 75,767,758 (GRCm39)	I47K	probably benign	Het
Megf6	A	G	4: 154,343,379 (GRCm39)	T663A	possibly damaging	Het
Mettl21c	G	A	1: 44,049,808 (GRCm39)	A79V	probably damaging	Het
Mfsd1	T	A	3: 67,507,391 (GRCm39)		probably null	Het
Mob3b	A	G	4: 34,985,914 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,356,926 (GRCm39)	H282L	probably benign	Het
Mtpap	T	C	18: 4,380,889 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,536,621 (GRCm39)	V365A	possibly damaging	Het
Muc5ac	T	A	7: 141,367,559 (GRCm39)	Y2993*	probably null	Het
Mycbp2	A	C	14: 103,391,513 (GRCm39)	F3422V	probably benign	Het
Ndufb7	T	A	8: 84,297,490 (GRCm39)	D48E	probably benign	Het
Nxpe5	A	G	5: 138,237,704 (GRCm39)	Y88C	probably damaging	Het
Or51a6	T	A	7: 102,604,185 (GRCm39)	M208L	probably benign	Het
Or5d3	A	G	2: 88,174,905 (GRCm39)	L64P	probably damaging	Het
Osbpl5	T	A	7: 143,263,520 (GRCm39)	D121V	probably benign	Het
Oxnad1	A	T	14: 31,813,608 (GRCm39)	H3L	probably benign	Het
Pam	C	A	1: 97,904,841 (GRCm39)		probably benign	Het
Papolg	T	C	11: 23,845,207 (GRCm39)		probably benign	Het
Pax1	G	A	2: 147,208,190 (GRCm39)	G266D	probably damaging	Het
Pde11a	A	T	2: 75,906,348 (GRCm39)	M623K	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Phf21a	A	T	2: 92,189,502 (GRCm39)	Q587L	probably benign	Het
Plcb3	A	G	19: 6,941,746 (GRCm39)	L336P	probably damaging	Het
Pnp2	T	C	14: 51,201,931 (GRCm39)	*306Q	probably null	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pramel32	T	A	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Prmt3	G	T	7: 49,467,843 (GRCm39)	A350S	probably benign	Het
Rac3	A	T	11: 120,614,343 (GRCm39)	R163*	probably null	Het
Raly	G	T	2: 154,699,432 (GRCm39)	V79L	probably benign	Het
Rbm20	A	T	19: 53,839,989 (GRCm39)	T993S	possibly damaging	Het
Rwdd3	A	G	3: 120,964,987 (GRCm39)	L56P	probably benign	Het
Serpina3a	C	T	12: 104,082,436 (GRCm39)	H70Y	possibly damaging	Het
Sez6l2	A	C	7: 126,552,915 (GRCm39)	E227A	possibly damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Slc35f6	T	C	5: 30,815,051 (GRCm39)	L326P	probably damaging	Het
Sox2	G	A	3: 34,705,075 (GRCm39)	G171S	possibly damaging	Het
Spef2	G	A	15: 9,729,924 (GRCm39)	R65C	probably damaging	Het
Spmap2	A	T	10: 79,420,741 (GRCm39)		probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tada2a	T	A	11: 83,976,514 (GRCm39)	I327F	probably damaging	Het
Tex2	A	G	11: 106,435,071 (GRCm39)	V785A	unknown	Het
Thada	C	A	17: 84,538,214 (GRCm39)		probably null	Het
Tmed1	G	A	9: 21,420,550 (GRCm39)	T94M	possibly damaging	Het
Tsr1	G	T	11: 74,790,360 (GRCm39)	M149I	probably benign	Het
Ttc8	T	C	12: 98,942,761 (GRCm39)	Y434H	possibly damaging	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ttn	G	T	2: 76,552,253 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,773,235 (GRCm39)	I2435T	unknown	Het
Uggt2	T	C	14: 119,251,938 (GRCm39)	I1174M	probably benign	Het
Unc13b	T	C	4: 43,216,544 (GRCm39)	I281T	probably benign	Het
Usp1	G	T	4: 98,817,127 (GRCm39)	K106N	possibly damaging	Het
Vwa3b	A	G	1: 37,174,634 (GRCm39)	D15G		Het
Zfp28	G	A	7: 6,397,461 (GRCm39)	C632Y	probably damaging	Het
Zfp68	T	C	5: 138,604,580 (GRCm39)	D581G	probably benign	Het
Zmynd10	A	C	9: 107,424,716 (GRCm39)	S21R	probably benign	Het
Zswim4	C	T	8: 84,940,681 (GRCm39)	R806H	probably 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
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'- CTCTGTTTCCCTTTGGCTGAAGAG -3'
(R):5'- GATGTCCACACAAGCAGCTG -3'

Sequencing Primer
(F):5'- TGAAGAGGGCCAGCTGTCTG -3'
(R):5'- GCTGCCACAAAATAGTTTATTAAGGG -3'

Posted On

2019-05-15