Mutagenetix > Incidental Mutation

Incidental Mutation 'R2267:Srebf1'

242148

Institutional Source

Beutler Lab

Gene Symbol

Srebf1

Ensembl Gene

ENSMUSG00000020538

Gene Name

sterol regulatory element binding transcription factor 1

Synonyms

SREBP1c, bHLHd1, SREBP1, ADD-1, SREBP-1c, SREBP-1, SREBP-1a

MMRRC Submission

040267-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2267 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60089915-60113407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60097973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 44 (S44P)

Ref Sequence

ENSEMBL: ENSMUSP00000120777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020846] [ENSMUST00000144942]

AlphaFold

Q9WTN3

Predicted Effect

probably benign
Transcript: ENSMUST00000020846
AA Change: S68P

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020846
Gene: ENSMUSG00000020538
AA Change: S68P

Domain	Start	End	E-Value	Type
low complexity region	70	85	N/A	INTRINSIC
low complexity region	92	105	N/A	INTRINSIC
low complexity region	180	198	N/A	INTRINSIC
low complexity region	203	217	N/A	INTRINSIC
low complexity region	225	235	N/A	INTRINSIC
HLH	323	373	6.71e-16	SMART
low complexity region	420	453	N/A	INTRINSIC
transmembrane domain	480	502	N/A	INTRINSIC
transmembrane domain	533	555	N/A	INTRINSIC
low complexity region	589	601	N/A	INTRINSIC
low complexity region	650	661	N/A	INTRINSIC
low complexity region	679	692	N/A	INTRINSIC
low complexity region	1113	1125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129869

Predicted Effect

unknown
Transcript: ENSMUST00000134660
AA Change: S14P

SMART Domains

Protein: ENSMUSP00000122934
Gene: ENSMUSG00000020538
AA Change: S14P

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
low complexity region	39	52	N/A	INTRINSIC
low complexity region	127	145	N/A	INTRINSIC
low complexity region	150	164	N/A	INTRINSIC
low complexity region	172	182	N/A	INTRINSIC
HLH	265	315	6.71e-16	SMART
low complexity region	362	395	N/A	INTRINSIC
transmembrane domain	422	444	N/A	INTRINSIC
transmembrane domain	475	497	N/A	INTRINSIC
low complexity region	531	543	N/A	INTRINSIC
low complexity region	592	603	N/A	INTRINSIC
low complexity region	621	634	N/A	INTRINSIC
low complexity region	1055	1067	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136426

Predicted Effect

probably damaging
Transcript: ENSMUST00000144942
AA Change: S44P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000120777
Gene: ENSMUSG00000020538
AA Change: S44P

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	68	81	N/A	INTRINSIC
low complexity region	156	174	N/A	INTRINSIC
low complexity region	179	193	N/A	INTRINSIC
low complexity region	201	211	N/A	INTRINSIC
HLH	299	349	6.71e-16	SMART
low complexity region	396	429	N/A	INTRINSIC
transmembrane domain	456	478	N/A	INTRINSIC
transmembrane domain	509	531	N/A	INTRINSIC
low complexity region	565	577	N/A	INTRINSIC
low complexity region	626	637	N/A	INTRINSIC
low complexity region	655	668	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156304

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (108/110)

MGI Phenotype

FUNCTION: This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele of transcript A die between E11.5 and E14.5. Mice homozygous for a knock-out allele of transcript C exhibit decreased circulating triglyceride levels. Mice homozygous for a gene trap allele exhibit decreased hepatictriglyceride storage. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	A	3: 59,944,737 (GRCm39)	D136E	probably damaging	Het
Abca16	A	G	7: 120,030,383 (GRCm39)	D165G	probably benign	Het
Abca8b	G	A	11: 109,845,974 (GRCm39)	T820M	probably benign	Het
Acot2	C	T	12: 84,037,334 (GRCm39)	A216V	probably damaging	Het
Agap2	T	A	10: 126,918,297 (GRCm39)		probably benign	Het
Ak7	T	C	12: 105,713,473 (GRCm39)	V419A	probably benign	Het
Apmap	A	G	2: 150,430,821 (GRCm39)		probably null	Het
Apob	T	C	12: 8,065,475 (GRCm39)	F4115S	possibly damaging	Het
Cachd1	T	A	4: 100,806,266 (GRCm39)		probably benign	Het
Ccdc39	T	A	3: 33,869,633 (GRCm39)	E731D	probably damaging	Het
Ces2a	A	T	8: 105,466,822 (GRCm39)	I65F	probably benign	Het
Commd8	A	G	5: 72,322,765 (GRCm39)	W51R	probably damaging	Het
D2hgdh	C	T	1: 93,763,157 (GRCm39)	A314V	probably damaging	Het
Dcun1d4	T	A	5: 73,638,618 (GRCm39)		probably benign	Het
Dgke	T	A	11: 88,943,295 (GRCm39)	E231D	probably benign	Het
Dhrs9	A	G	2: 69,223,197 (GRCm39)		probably benign	Het
Dhx30	C	T	9: 109,916,102 (GRCm39)	G662R	probably damaging	Het
Dipk2b	A	G	X: 18,289,926 (GRCm39)	S179P	possibly damaging	Het
Dnah7b	T	A	1: 46,273,075 (GRCm39)	M2401K	probably damaging	Het
Dnmt3a	T	A	12: 3,947,551 (GRCm39)		probably null	Het
Dst	C	T	1: 34,334,547 (GRCm39)	T4874I	probably damaging	Het
Eef2kmt	G	A	16: 5,073,804 (GRCm39)		probably benign	Het
Ess2	T	C	16: 17,727,859 (GRCm39)	T107A	probably damaging	Het
Etfa	A	T	9: 55,394,015 (GRCm39)	L212Q	probably damaging	Het
Exosc5	T	C	7: 25,363,809 (GRCm39)	L107P	possibly damaging	Het
Fam117b	T	C	1: 59,952,789 (GRCm39)	L156P	probably damaging	Het
Fam186b	T	G	15: 99,183,524 (GRCm39)	D40A	probably damaging	Het
Fga	T	C	3: 82,940,257 (GRCm39)	L637P	probably damaging	Het
Foxn4	T	C	5: 114,393,662 (GRCm39)	T486A	probably damaging	Het
Gcc1	A	G	6: 28,418,498 (GRCm39)	S612P	probably benign	Het
Gjd3	C	T	11: 98,873,227 (GRCm39)	V206M	probably damaging	Het
Gpam	A	T	19: 55,061,142 (GRCm39)		probably null	Het
Gpc6	A	T	14: 118,125,932 (GRCm39)		probably null	Het
Gphb5	C	G	12: 75,459,720 (GRCm39)	V92L	probably benign	Het
Grid2ip	C	T	5: 143,371,847 (GRCm39)	P690L	probably benign	Het
Gsdmc	T	C	15: 63,648,647 (GRCm39)	E429G	probably benign	Het
H2bc9	T	C	13: 23,727,162 (GRCm39)	K121E	possibly damaging	Het
Heatr5a	T	C	12: 51,940,528 (GRCm39)	D1444G	possibly damaging	Het
Hmcn1	T	C	1: 150,474,761 (GRCm39)	S4709G	probably benign	Het
Hr	A	T	14: 70,795,547 (GRCm39)	D393V	probably benign	Het
Ido2	T	C	8: 25,025,268 (GRCm39)	Y253C	probably damaging	Het
Itgal	A	G	7: 126,905,873 (GRCm39)	I352V	possibly damaging	Het
Itih4	A	G	14: 30,614,385 (GRCm39)	D445G	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Kcnt2	G	A	1: 140,501,421 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,753,863 (GRCm39)	I49T	possibly damaging	Het
Klrb1	A	T	6: 128,699,937 (GRCm39)	S25T	probably damaging	Het
L3mbtl3	C	T	10: 26,207,755 (GRCm39)	W321*	probably null	Het
Lama2	T	A	10: 26,868,932 (GRCm39)	I2838F	probably damaging	Het
Lrrtm1	C	A	6: 77,220,996 (GRCm39)	A151E	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Magi3	G	A	3: 103,928,382 (GRCm39)		probably benign	Het
Mamdc2	A	T	19: 23,281,267 (GRCm39)		probably benign	Het
Mcc	T	C	18: 44,652,608 (GRCm39)	D272G	probably damaging	Het
Mgst3	T	A	1: 167,201,368 (GRCm39)	T106S	probably benign	Het
Mink1	G	A	11: 70,492,550 (GRCm39)		probably null	Het
Mlh3	G	T	12: 85,307,585 (GRCm39)	H1181N	possibly damaging	Het
Mmrn2	A	G	14: 34,121,449 (GRCm39)	K773R	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mro	T	C	18: 74,006,368 (GRCm39)	I104T	probably benign	Het
Mtbp	G	A	15: 55,432,556 (GRCm39)		probably null	Het
Mtss2	A	G	8: 111,455,362 (GRCm39)	K92E	possibly damaging	Het
Mybphl	A	G	3: 108,272,317 (GRCm39)	E2G	probably damaging	Het
Nbeal1	T	A	1: 60,370,037 (GRCm39)		probably benign	Het
Neurod2	C	A	11: 98,218,582 (GRCm39)	C194F	probably damaging	Het
Nr4a2	T	A	2: 57,002,018 (GRCm39)	D145V	possibly damaging	Het
Ntmt1	C	A	2: 30,710,472 (GRCm39)	N58K	probably benign	Het
Nup205	T	C	6: 35,218,284 (GRCm39)	S1819P	possibly damaging	Het
Obsl1	T	C	1: 75,482,342 (GRCm39)	H176R	probably damaging	Het
Or51f1d	G	A	7: 102,701,344 (GRCm39)	V280I	probably benign	Het
Or7g21	A	T	9: 19,032,737 (GRCm39)	H162L	probably benign	Het
Or8d2b	A	G	9: 38,789,359 (GRCm39)	T296A	probably benign	Het
P2ry13	T	C	3: 59,117,449 (GRCm39)	M110V	probably damaging	Het
P2ry14	T	C	3: 59,022,992 (GRCm39)	N165S	probably damaging	Het
Phka1	A	G	X: 101,584,716 (GRCm39)		probably benign	Het
Plxnd1	A	G	6: 115,939,704 (GRCm39)	V1425A	probably benign	Het
Ppp2ca	G	A	11: 52,008,913 (GRCm39)	G138R	probably damaging	Het
Ptpn12	A	T	5: 21,203,409 (GRCm39)	N456K	probably damaging	Het
Scarb1	A	T	5: 125,364,439 (GRCm39)	S97T	possibly damaging	Het
Scyl1	C	T	19: 5,811,749 (GRCm39)	D440N	possibly damaging	Het
Sema5a	C	A	15: 32,575,065 (GRCm39)	T391K	probably benign	Het
Sipa1l3	T	A	7: 29,099,027 (GRCm39)	N414I	probably damaging	Het
Skint6	T	C	4: 112,700,019 (GRCm39)		probably null	Het
Slc35a3	T	C	3: 116,467,285 (GRCm39)	K325E	possibly damaging	Het
Spag17	C	A	3: 99,969,182 (GRCm39)		probably null	Het
Spib	T	A	7: 44,178,348 (GRCm39)	M141L	probably benign	Het
Styk1	T	C	6: 131,289,539 (GRCm39)	E25G	probably benign	Het
Taar8b	T	C	10: 23,967,270 (GRCm39)	N308S	probably damaging	Het
Taf15	T	G	11: 83,388,088 (GRCm39)	S200R	probably damaging	Het
Tanc1	G	A	2: 59,667,563 (GRCm39)		probably null	Het
Tas2r134	A	G	2: 51,518,249 (GRCm39)	T243A	probably benign	Het
Tatdn1	A	T	15: 58,777,601 (GRCm39)	M218K	probably damaging	Het
Tbc1d14	A	G	5: 36,700,561 (GRCm39)	L269P	possibly damaging	Het
Tbx1	T	C	16: 18,400,744 (GRCm39)		probably null	Het
Tgfbr3l	A	G	8: 4,300,506 (GRCm39)	E228G	probably benign	Het
Tmem233	G	C	5: 116,189,517 (GRCm39)		probably benign	Het
Tmprss11d	A	G	5: 86,521,208 (GRCm39)	Y2H	probably benign	Het
Trps1	G	A	15: 50,685,794 (GRCm39)	R544C	probably damaging	Het
Ttc22	T	C	4: 106,496,282 (GRCm39)	V444A	possibly damaging	Het
Ttc28	A	G	5: 111,373,869 (GRCm39)	T1071A	possibly damaging	Het
Tymp	A	T	15: 89,258,011 (GRCm39)	V378D	probably damaging	Het
Ube2j1	T	A	4: 33,049,943 (GRCm39)	F257I	possibly damaging	Het
Vmn2r18	T	C	5: 151,510,127 (GRCm39)	E82G	probably damaging	Het
Wwp1	T	C	4: 19,638,618 (GRCm39)	D575G	probably damaging	Het

Other mutations in Srebf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Srebf1	APN	11	60,095,965 (GRCm39)	missense	probably damaging	0.96
IGL00774:Srebf1	APN	11	60,095,965 (GRCm39)	missense	probably damaging	0.96
IGL01824:Srebf1	APN	11	60,094,957 (GRCm39)	missense	probably benign	0.01
IGL02097:Srebf1	APN	11	60,093,650 (GRCm39)	missense	probably damaging	1.00
IGL02808:Srebf1	APN	11	60,092,539 (GRCm39)	critical splice acceptor site	probably null
IGL03036:Srebf1	APN	11	60,111,284 (GRCm39)	missense	possibly damaging	0.85
IGL03055:Srebf1	UTSW	11	60,097,902 (GRCm39)	synonymous	silent
R0109:Srebf1	UTSW	11	60,092,630 (GRCm39)	missense	probably benign	0.21
R0109:Srebf1	UTSW	11	60,092,630 (GRCm39)	missense	probably benign	0.21
R0550:Srebf1	UTSW	11	60,092,502 (GRCm39)	missense	probably benign	0.00
R0654:Srebf1	UTSW	11	60,094,942 (GRCm39)	missense	probably benign
R0707:Srebf1	UTSW	11	60,094,942 (GRCm39)	missense	probably benign
R1466:Srebf1	UTSW	11	60,091,528 (GRCm39)	missense	probably benign	0.01
R1466:Srebf1	UTSW	11	60,091,528 (GRCm39)	missense	probably benign	0.01
R1584:Srebf1	UTSW	11	60,091,528 (GRCm39)	missense	probably benign	0.01
R1899:Srebf1	UTSW	11	60,094,312 (GRCm39)	missense	probably damaging	1.00
R1900:Srebf1	UTSW	11	60,094,312 (GRCm39)	missense	probably damaging	1.00
R1905:Srebf1	UTSW	11	60,095,319 (GRCm39)	missense	probably damaging	1.00
R2172:Srebf1	UTSW	11	60,097,328 (GRCm39)	missense	probably benign
R2191:Srebf1	UTSW	11	60,111,365 (GRCm39)	missense	probably damaging	1.00
R2268:Srebf1	UTSW	11	60,097,973 (GRCm39)	missense	probably damaging	0.99
R5511:Srebf1	UTSW	11	60,101,184 (GRCm39)	utr 5 prime	probably benign
R5841:Srebf1	UTSW	11	60,094,410 (GRCm39)	missense	possibly damaging	0.65
R5870:Srebf1	UTSW	11	60,094,410 (GRCm39)	missense	possibly damaging	0.65
R6003:Srebf1	UTSW	11	60,097,930 (GRCm39)	missense	possibly damaging	0.82
R6371:Srebf1	UTSW	11	60,094,341 (GRCm39)	missense	probably damaging	1.00
R6376:Srebf1	UTSW	11	60,094,361 (GRCm39)	missense	probably null	0.19
R7009:Srebf1	UTSW	11	60,091,352 (GRCm39)	missense	probably damaging	1.00
R7029:Srebf1	UTSW	11	60,097,810 (GRCm39)	missense	probably damaging	1.00
R7410:Srebf1	UTSW	11	60,096,693 (GRCm39)	missense	probably benign	0.03
R7569:Srebf1	UTSW	11	60,090,947 (GRCm39)	missense	possibly damaging	0.69
R8317:Srebf1	UTSW	11	60,091,483 (GRCm39)	missense	possibly damaging	0.62
R8370:Srebf1	UTSW	11	60,093,022 (GRCm39)	missense	probably benign
R8871:Srebf1	UTSW	11	60,091,595 (GRCm39)	missense	probably benign
R9433:Srebf1	UTSW	11	60,095,015 (GRCm39)	missense	possibly damaging	0.63
R9582:Srebf1	UTSW	11	60,097,868 (GRCm39)	missense	probably benign	0.00
RF009:Srebf1	UTSW	11	60,094,942 (GRCm39)	missense	probably benign
X0017:Srebf1	UTSW	11	60,093,707 (GRCm39)	missense	probably damaging	0.96
X0025:Srebf1	UTSW	11	60,094,253 (GRCm39)	missense	probably benign	0.00
Z1176:Srebf1	UTSW	11	60,097,982 (GRCm39)	missense	possibly damaging	0.95
Z1186:Srebf1	UTSW	11	60,097,061 (GRCm39)	missense	probably benign	0.03
Z1187:Srebf1	UTSW	11	60,097,061 (GRCm39)	missense	probably benign	0.03
Z1188:Srebf1	UTSW	11	60,097,061 (GRCm39)	missense	probably benign	0.03
Z1189:Srebf1	UTSW	11	60,097,061 (GRCm39)	missense	probably benign	0.03
Z1190:Srebf1	UTSW	11	60,097,061 (GRCm39)	missense	probably benign	0.03
Z1191:Srebf1	UTSW	11	60,097,061 (GRCm39)	missense	probably benign	0.03
Z1192:Srebf1	UTSW	11	60,097,061 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCACTCGCTCACCTGAGAAG -3'
(R):5'- ACATCACAAGCGGCTGTGTG -3'

Sequencing Primer
(F):5'- CTCACCTGAGAAGCCTGAAGG -3'
(R):5'- CAAGCGGCTGTGTGTGGAG -3'

Posted On

2014-10-16