Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02097:Srebf1'

279625

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02097

Quality Score

Status

Chromosome

Chromosomal Location

60089915-60113407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 60093650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 739 (D739A)

Ref Sequence

ENSEMBL: ENSMUSP00000120777 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020846] [ENSMUST00000064190] [ENSMUST00000102688] [ENSMUST00000144942] [ENSMUST00000171108]

AlphaFold

Q9WTN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020846
AA Change: D763A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020846
Gene: ENSMUSG00000020538
AA Change: D763A

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

probably benign
Transcript: ENSMUST00000064190

SMART Domains

Protein: ENSMUSP00000070896
Gene: ENSMUSG00000062115

Domain	Start	End	E-Value	Type
low complexity region	55	69	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
low complexity region	168	175	N/A	INTRINSIC
low complexity region	294	304	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC
low complexity region	409	424	N/A	INTRINSIC
low complexity region	699	708	N/A	INTRINSIC
low complexity region	836	842	N/A	INTRINSIC
low complexity region	1015	1030	N/A	INTRINSIC
low complexity region	1049	1064	N/A	INTRINSIC
low complexity region	1084	1102	N/A	INTRINSIC
low complexity region	1262	1272	N/A	INTRINSIC
low complexity region	1375	1388	N/A	INTRINSIC
low complexity region	1455	1465	N/A	INTRINSIC
low complexity region	1499	1515	N/A	INTRINSIC
low complexity region	1597	1609	N/A	INTRINSIC
low complexity region	1680	1690	N/A	INTRINSIC
low complexity region	1714	1732	N/A	INTRINSIC
PHD	1838	1885	3.59e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102688

SMART Domains

Protein: ENSMUSP00000099749
Gene: ENSMUSG00000062115

Domain	Start	End	E-Value	Type
low complexity region	55	69	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
low complexity region	168	175	N/A	INTRINSIC
low complexity region	294	304	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC
low complexity region	409	424	N/A	INTRINSIC
low complexity region	699	708	N/A	INTRINSIC
low complexity region	836	842	N/A	INTRINSIC
low complexity region	1015	1030	N/A	INTRINSIC
low complexity region	1049	1064	N/A	INTRINSIC
low complexity region	1084	1102	N/A	INTRINSIC
low complexity region	1262	1272	N/A	INTRINSIC
low complexity region	1375	1388	N/A	INTRINSIC
low complexity region	1455	1465	N/A	INTRINSIC
low complexity region	1499	1515	N/A	INTRINSIC
low complexity region	1597	1609	N/A	INTRINSIC
low complexity region	1680	1690	N/A	INTRINSIC
low complexity region	1714	1732	N/A	INTRINSIC
PHD	1838	1885	3.59e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129869

Predicted Effect

unknown
Transcript: ENSMUST00000134660
AA Change: D704A

SMART Domains

Protein: ENSMUSP00000122934
Gene: ENSMUSG00000020538
AA Change: D704A

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: D739A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120777
Gene: ENSMUSG00000020538
AA Change: D739A

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: ENSMUST00000149238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185099

Predicted Effect

probably benign
Transcript: ENSMUST00000171108

SMART Domains

Protein: ENSMUSP00000126183
Gene: ENSMUSG00000062115

Domain	Start	End	E-Value	Type
low complexity region	55	69	N/A	INTRINSIC
low complexity region	115	129	N/A	INTRINSIC
low complexity region	168	175	N/A	INTRINSIC
low complexity region	294	304	N/A	INTRINSIC
low complexity region	322	336	N/A	INTRINSIC
low complexity region	409	424	N/A	INTRINSIC
low complexity region	699	708	N/A	INTRINSIC
low complexity region	836	842	N/A	INTRINSIC
low complexity region	1015	1030	N/A	INTRINSIC
low complexity region	1049	1064	N/A	INTRINSIC
low complexity region	1084	1102	N/A	INTRINSIC
low complexity region	1262	1272	N/A	INTRINSIC
low complexity region	1375	1388	N/A	INTRINSIC
low complexity region	1455	1465	N/A	INTRINSIC
low complexity region	1499	1515	N/A	INTRINSIC
low complexity region	1597	1609	N/A	INTRINSIC
low complexity region	1680	1690	N/A	INTRINSIC
low complexity region	1714	1732	N/A	INTRINSIC
PHD	1838	1885	3.59e-6	SMART

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	T	5: 105,109,052 (GRCm39)	V415D	possibly damaging	Het
Adcy3	C	T	12: 4,262,118 (GRCm39)	A1056V	probably damaging	Het
Adcy5	G	A	16: 35,092,468 (GRCm39)	A610T	probably damaging	Het
Arhgap21	G	A	2: 20,884,813 (GRCm39)	T788I	probably benign	Het
Asic1	T	C	15: 99,592,567 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,870,199 (GRCm39)	M68K	probably benign	Het
Cdhr5	G	T	7: 140,849,894 (GRCm39)	T637K	probably damaging	Het
Corin	A	T	5: 72,529,489 (GRCm39)	C289S	probably damaging	Het
Cpne4	T	C	9: 104,563,701 (GRCm39)	V26A	probably damaging	Het
Csmd1	T	C	8: 16,261,773 (GRCm39)	D908G	probably null	Het
Cyp2c29	A	G	19: 39,296,064 (GRCm39)	D126G	probably damaging	Het
Ddx42	G	A	11: 106,129,986 (GRCm39)	S426N	probably benign	Het
Dnah1	C	T	14: 31,026,958 (GRCm39)	V689M	possibly damaging	Het
Dtwd1	A	G	2: 126,006,715 (GRCm39)	T246A	probably damaging	Het
Fbn1	A	T	2: 125,205,889 (GRCm39)	M1036K	probably damaging	Het
Fbxo10	T	C	4: 45,048,527 (GRCm39)	N536S	probably benign	Het
Gnal	G	A	18: 67,350,279 (GRCm39)		probably benign	Het
Gns	A	G	10: 121,226,598 (GRCm39)	T416A	probably benign	Het
Heatr5b	G	A	17: 79,124,943 (GRCm39)	T603I	probably damaging	Het
Hsp90b1	T	A	10: 86,527,548 (GRCm39)		probably benign	Het
Krt23	C	T	11: 99,383,836 (GRCm39)	G19R	probably benign	Het
Lama2	C	T	10: 27,014,956 (GRCm39)	R1584H	probably benign	Het
Lmbr1l	C	T	15: 98,815,772 (GRCm39)	V11M	probably damaging	Het
Man1a2	T	C	3: 100,489,447 (GRCm39)	K511E	possibly damaging	Het
Mrgpra3	C	A	7: 47,239,204 (GRCm39)	V241F	possibly damaging	Het
Myh3	A	G	11: 66,973,750 (GRCm39)	D141G	probably benign	Het
Mylk2	G	A	2: 152,757,056 (GRCm39)	C277Y	probably damaging	Het
Myo3b	A	T	2: 70,069,173 (GRCm39)	T471S	probably damaging	Het
Naip1	A	G	13: 100,562,096 (GRCm39)	V1023A	probably benign	Het
Olfm5	T	A	7: 103,803,438 (GRCm39)	T342S	probably benign	Het
Or10g1	A	G	14: 52,647,511 (GRCm39)	F273L	probably benign	Het
Or2f1b	T	A	6: 42,739,394 (GRCm39)	M136K	probably damaging	Het
Pglyrp4	T	C	3: 90,642,910 (GRCm39)	F263L	probably benign	Het
Plekhh2	A	T	17: 84,906,608 (GRCm39)	T1148S	possibly damaging	Het
Prrc2b	T	C	2: 32,081,513 (GRCm39)		probably benign	Het
Rbm28	G	T	6: 29,138,617 (GRCm39)	D398E	possibly damaging	Het
Rnf220	A	G	4: 117,130,524 (GRCm39)	F234L	probably benign	Het
Sele	T	C	1: 163,880,662 (GRCm39)	S415P	probably benign	Het
Shpk	T	C	11: 73,094,821 (GRCm39)	L79P	probably damaging	Het
Slc35f4	C	T	14: 49,543,703 (GRCm39)	A148T	probably damaging	Het
Slc6a20a	G	A	9: 123,489,684 (GRCm39)	P120S	possibly damaging	Het
Slc8a2	A	G	7: 15,891,081 (GRCm39)	E701G	possibly damaging	Het
Slco1a1	T	A	6: 141,885,765 (GRCm39)	I87F	possibly damaging	Het
Thg1l	A	G	11: 45,841,055 (GRCm39)	Y175H	probably benign	Het
Traf3ip2	G	A	10: 39,530,475 (GRCm39)	V540M	probably damaging	Het
Wdr48	A	G	9: 119,753,329 (GRCm39)	D644G	probably damaging	Het
Zbtb1	A	T	12: 76,433,371 (GRCm39)	K452N	probably damaging	Het
Zfhx2	C	T	14: 55,300,351 (GRCm39)	G2467R	probably damaging	Het
Zfp334	A	T	2: 165,223,643 (GRCm39)	Y133*	probably null	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
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
R2267:Srebf1	UTSW	11	60,097,973 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16