Mutagenetix > Incidental Mutations

Incidental Mutation 'R2172:Srebf1'

237576

Institutional Source

Beutler Lab

Gene Symbol

Srebf1

Ensembl Gene

ENSMUSG00000020538

Gene Name

sterol regulatory element binding transcription factor 1

Synonyms

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

MMRRC Submission

040174-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60199089-60222581 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60206502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 171 (T171A)

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: T195A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020846
Gene: ENSMUSG00000020538
AA Change: T195A

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: T141A

SMART Domains

Protein: ENSMUSP00000122934
Gene: ENSMUSG00000020538
AA Change: T141A

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 benign
Transcript: ENSMUST00000144942
AA Change: T171A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120777
Gene: ENSMUSG00000020538
AA Change: T171A

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: ENSMUST00000149238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185099

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 37,990,560	E441V	probably damaging	Het
Arfip2	T	A	7: 105,637,988	D64V	probably damaging	Het
Atg9a	C	A	1: 75,185,685	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,590,548	I308L	probably benign	Het
Bcan	T	A	3: 87,996,581	Y199F	probably damaging	Het
Bsn	T	C	9: 108,109,992		probably benign	Het
Ccdc158	A	T	5: 92,632,508	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,124,512	Y492C	probably benign	Het
Dnah9	G	T	11: 66,072,779	H1783N	probably damaging	Het
Dpep2	A	G	8: 105,988,998	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,045,502	Y282H	probably damaging	Het
Egfr	C	T	11: 16,911,562	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,700,133	S560P	probably damaging	Het
Gm10696	T	G	3: 94,176,298	K69Q	possibly damaging	Het
Gm14295	G	A	2: 176,811,102	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,382,127	V51I	probably benign	Het
Gsap	G	A	5: 21,222,440		probably null	Het
Hecw1	T	A	13: 14,377,706	I103F	probably damaging	Het
Herc3	T	A	6: 58,887,437	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,382,816	D244E	probably benign	Het
Hydin	A	G	8: 110,582,049	E3989G	probably benign	Het
Ibsp	T	C	5: 104,310,430	Y278H	probably damaging	Het
Ift57	T	G	16: 49,759,340	N291K	probably benign	Het
Il15ra	A	G	2: 11,723,571	T149A	possibly damaging	Het
Ints5	C	T	19: 8,896,282	T535I	possibly damaging	Het
Jarid2	T	C	13: 44,902,539	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Lrrc49	A	G	9: 60,602,682	V429A	probably benign	Het
Lsm3	T	C	6: 91,522,272	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map1a	G	T	2: 121,307,932	V2726L	probably damaging	Het
Marveld3	A	C	8: 109,961,846	S88A	probably benign	Het
Mcm9	T	C	10: 53,548,574	D640G	probably damaging	Het
Mettl4	A	G	17: 94,733,163	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,378	L274*	probably null	Het
Nacc2	A	C	2: 26,060,223	D500E	probably benign	Het
Nprl3	T	A	11: 32,234,894	M372L	probably benign	Het
Olfr478	A	T	7: 108,031,467	I292N	probably damaging	Het
Otud7b	T	G	3: 96,153,520		probably null	Het
Pcx	G	A	19: 4,620,881	R1070H	probably benign	Het
Ptprq	C	T	10: 107,590,994	W1560*	probably null	Het
Puf60	A	T	15: 76,070,464	I520N	probably damaging	Het
Qars	C	T	9: 108,509,200	R143C	probably damaging	Het
Rfx3	G	A	19: 27,815,494	Q322*	probably null	Het
Samd14	G	T	11: 95,014,391	V10L	probably benign	Het
Setd2	G	A	9: 110,549,844	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,296,664	S117P	probably benign	Het
Sharpin	C	A	15: 76,350,666		probably benign	Het
Skor1	C	A	9: 63,145,122	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,774	T375A	probably benign	Het
Sparc	G	A	11: 55,395,801	Q324*	probably null	Het
Srrd	A	G	5: 112,341,122	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,196,417	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,211,456	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,217,420	S516N	probably damaging	Het
Trpa1	T	A	1: 14,881,656	T940S	probably benign	Het
Trpv4	G	A	5: 114,644,710	R64C	probably damaging	Het
Tufm	A	G	7: 126,488,847	E174G	probably benign	Het
Urb2	A	G	8: 124,031,102	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,474,615	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,810,767	F277L	probably damaging	Het
Zfp683	C	T	4: 134,055,795	T190I	possibly damaging	Het

Other mutations in Srebf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Srebf1	APN	11	60205139	missense	probably damaging	0.96
IGL00774:Srebf1	APN	11	60205139	missense	probably damaging	0.96
IGL01824:Srebf1	APN	11	60204131	missense	probably benign	0.01
IGL02097:Srebf1	APN	11	60202824	missense	probably damaging	1.00
IGL02808:Srebf1	APN	11	60201713	critical splice acceptor site	probably null
IGL03036:Srebf1	APN	11	60220458	missense	possibly damaging	0.85
IGL03055:Srebf1	UTSW	11	60207076	synonymous	silent
R0109:Srebf1	UTSW	11	60201804	missense	probably benign	0.21
R0109:Srebf1	UTSW	11	60201804	missense	probably benign	0.21
R0550:Srebf1	UTSW	11	60201676	missense	probably benign	0.00
R0654:Srebf1	UTSW	11	60204116	missense	probably benign
R0707:Srebf1	UTSW	11	60204116	missense	probably benign
R1466:Srebf1	UTSW	11	60200702	missense	probably benign	0.01
R1466:Srebf1	UTSW	11	60200702	missense	probably benign	0.01
R1584:Srebf1	UTSW	11	60200702	missense	probably benign	0.01
R1899:Srebf1	UTSW	11	60203486	missense	probably damaging	1.00
R1900:Srebf1	UTSW	11	60203486	missense	probably damaging	1.00
R1905:Srebf1	UTSW	11	60204493	missense	probably damaging	1.00
R2191:Srebf1	UTSW	11	60220539	missense	probably damaging	1.00
R2267:Srebf1	UTSW	11	60207147	missense	probably damaging	0.99
R2268:Srebf1	UTSW	11	60207147	missense	probably damaging	0.99
R5511:Srebf1	UTSW	11	60210358	utr 5 prime	probably benign
R5841:Srebf1	UTSW	11	60203584	missense	possibly damaging	0.65
R5870:Srebf1	UTSW	11	60203584	missense	possibly damaging	0.65
R6003:Srebf1	UTSW	11	60207104	missense	possibly damaging	0.82
R6371:Srebf1	UTSW	11	60203515	missense	probably damaging	1.00
R6376:Srebf1	UTSW	11	60203535	missense	probably null	0.19
R7009:Srebf1	UTSW	11	60200526	missense	probably damaging	1.00
R7029:Srebf1	UTSW	11	60206984	missense	probably damaging	1.00
R7410:Srebf1	UTSW	11	60205867	missense	probably benign	0.03
R7569:Srebf1	UTSW	11	60200121	missense	possibly damaging	0.69
R8317:Srebf1	UTSW	11	60200657	missense	possibly damaging	0.62
R8370:Srebf1	UTSW	11	60202196	missense	probably benign
R8871:Srebf1	UTSW	11	60200769	missense	probably benign
R9433:Srebf1	UTSW	11	60204189	missense	possibly damaging	0.63
RF009:Srebf1	UTSW	11	60204116	missense	probably benign
X0017:Srebf1	UTSW	11	60202881	missense	probably damaging	0.96
X0025:Srebf1	UTSW	11	60203427	missense	probably benign	0.00
Z1176:Srebf1	UTSW	11	60207156	missense	possibly damaging	0.95
Z1186:Srebf1	UTSW	11	60206235	missense	probably benign	0.03
Z1187:Srebf1	UTSW	11	60206235	missense	probably benign	0.03
Z1188:Srebf1	UTSW	11	60206235	missense	probably benign	0.03
Z1189:Srebf1	UTSW	11	60206235	missense	probably benign	0.03
Z1190:Srebf1	UTSW	11	60206235	missense	probably benign	0.03
Z1191:Srebf1	UTSW	11	60206235	missense	probably benign	0.03
Z1192:Srebf1	UTSW	11	60206235	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGAAGTGTGGCTGCAGTACAAC -3'
(R):5'- AAGGTGACATGTGCAGGGTC -3'

Sequencing Primer
(F):5'- TGGCTGCAGTACAACCTGGATG -3'
(R):5'- ACATGTGCAGGGTCTGTCC -3'

Posted On

2014-10-02