Mutagenetix > Incidental Mutation

Incidental Mutation 'R6376:Srebf1'

514989

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

044526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6376 (G1)

Quality Score

154.008

Status

Validated

Chromosome

Chromosomal Location

60089915-60113407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60094361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 609 (N609D)

Ref Sequence

ENSEMBL: ENSMUSP00000020846 (fasta)

Gene Model

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

AlphaFold

Q9WTN3

Predicted Effect

probably null
Transcript: ENSMUST00000020846
AA Change: N609D

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020846
Gene: ENSMUSG00000020538
AA Change: N609D

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

probably null
Transcript: ENSMUST00000134660
AA Change: N550D

SMART Domains

Protein: ENSMUSP00000122934
Gene: ENSMUSG00000020538
AA Change: N550D

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 null
Transcript: ENSMUST00000144942
AA Change: N585D

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120777
Gene: ENSMUSG00000020538
AA Change: N585D

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: ENSMUST00000156304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149238

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183719

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154620

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147967

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,339,456 (GRCm39)	E106D	probably damaging	Het
A830018L16Rik	A	T	1: 11,868,718 (GRCm39)	N333Y	probably damaging	Het
Abca4	T	A	3: 121,917,309 (GRCm39)	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,687,343 (GRCm39)	I495F	probably damaging	Het
Acsl3	T	C	1: 78,674,182 (GRCm39)	S373P	possibly damaging	Het
Adam7	A	G	14: 68,742,546 (GRCm39)	I689T	possibly damaging	Het
Akap11	G	A	14: 78,752,336 (GRCm39)	T179I	probably damaging	Het
Ankmy1	T	C	1: 92,816,187 (GRCm39)	K309R	possibly damaging	Het
Apaf1	A	T	10: 90,859,673 (GRCm39)	I824N	probably damaging	Het
Apc2	T	A	10: 80,148,488 (GRCm39)	C1152S	probably damaging	Het
Arhgap17	C	A	7: 122,899,727 (GRCm39)	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,845,796 (GRCm39)	I19V	unknown	Het
Arnt	C	A	3: 95,397,936 (GRCm39)	P573H	probably damaging	Het
Arvcf	G	A	16: 18,223,882 (GRCm39)	G932R	probably damaging	Het
Atg4a-ps	C	T	3: 103,553,044 (GRCm39)	W99*	probably null	Het
Atp13a5	T	A	16: 29,056,004 (GRCm39)	D1052V	probably benign	Het
Atp2b4	T	C	1: 133,642,797 (GRCm39)	T1103A	probably damaging	Het
B4galnt4	C	A	7: 140,647,335 (GRCm39)	Q362K	possibly damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cep170b	A	T	12: 112,698,502 (GRCm39)	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486 (GRCm39)	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,044 (GRCm39)	Q62L	probably benign	Het
Ctsg	A	T	14: 56,339,110 (GRCm39)	C49*	probably null	Het
Cul9	T	C	17: 46,819,489 (GRCm39)	T2000A	probably damaging	Het
Dedd	C	T	1: 171,167,790 (GRCm39)	P155S	probably benign	Het
Dnah1	A	G	14: 30,997,565 (GRCm39)	S2598P	probably damaging	Het
Dnah14	C	T	1: 181,433,459 (GRCm39)	P379S	possibly damaging	Het
Dync2h1	A	T	9: 7,165,703 (GRCm39)	S519R	probably benign	Het
Eea1	A	G	10: 95,874,660 (GRCm39)	S1192G	probably benign	Het
Eif5b	T	C	1: 38,084,760 (GRCm39)	I869T	probably damaging	Het
Elavl4	C	A	4: 110,112,651 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ets2	G	A	16: 95,520,037 (GRCm39)	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,203,635 (GRCm39)	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,778,757 (GRCm39)	Y144C	probably damaging	Het
Greb1	T	C	12: 16,749,580 (GRCm39)	E1082G	probably damaging	Het
Gtf3a	A	T	5: 146,890,798 (GRCm39)		probably null	Het
Hoxc12	C	A	15: 102,845,524 (GRCm39)	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,547,491 (GRCm39)	L164I	probably damaging	Het
Ina	C	T	19: 47,003,564 (GRCm39)	A124V	probably benign	Het
Inhbb	T	A	1: 119,345,411 (GRCm39)	I293F	probably damaging	Het
Itpr3	A	G	17: 27,314,449 (GRCm39)	Y633C	possibly damaging	Het
Jag2	C	T	12: 112,872,949 (GRCm39)	V1102I	probably benign	Het
Kalrn	A	T	16: 33,796,361 (GRCm39)	F1138Y	probably benign	Het
Large2	T	A	2: 92,200,853 (GRCm39)		probably benign	Het
Lats2	A	G	14: 57,959,966 (GRCm39)	S177P	probably benign	Het
Lims2	G	A	18: 32,087,515 (GRCm39)	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,313,787 (GRCm39)	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,459,391 (GRCm39)	T6P	probably benign	Het
Lrrk2	T	C	15: 91,626,469 (GRCm39)	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,978,378 (GRCm39)	M302K	probably damaging	Het
Mocos	G	A	18: 24,834,542 (GRCm39)	G860R	possibly damaging	Het
Mylk3	T	A	8: 86,085,571 (GRCm39)	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,201,240 (GRCm39)	D6N	probably damaging	Het
Nrp2	A	G	1: 62,758,176 (GRCm39)	N54S	possibly damaging	Het
Nt5el	T	C	13: 105,256,473 (GRCm39)	I514T	possibly damaging	Het
Or2d2	A	G	7: 106,727,848 (GRCm39)	F251L	probably benign	Het
Pacsin1	A	T	17: 27,926,879 (GRCm39)	T195S	probably benign	Het
Pank4	T	C	4: 155,056,693 (GRCm39)		probably null	Het
Pdgfra	A	T	5: 75,327,180 (GRCm39)	M126L	probably benign	Het
Podxl	T	A	6: 31,505,432 (GRCm39)	T204S	probably benign	Het
Pole	G	A	5: 110,484,240 (GRCm39)	D2175N	probably damaging	Het
Pramel16	C	T	4: 143,677,267 (GRCm39)	G104E	probably benign	Het
Prkdc	A	G	16: 15,587,749 (GRCm39)	K2545E	probably benign	Het
Prodh	T	C	16: 17,897,849 (GRCm39)	I183V	probably benign	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rapgef5	G	A	12: 117,684,988 (GRCm39)	V246M	probably damaging	Het
Rubcnl	A	G	14: 75,269,834 (GRCm39)	N164S	probably benign	Het
Samd4	A	T	14: 47,290,419 (GRCm39)	L175F	probably damaging	Het
Scart1	G	A	7: 139,808,642 (GRCm39)	G851D	probably damaging	Het
Scimp	C	A	11: 70,688,893 (GRCm39)	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,291,843 (GRCm39)	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,030,888 (GRCm39)	R957G	probably benign	Het
Sptlc3	T	A	2: 139,478,692 (GRCm39)	N550K	probably benign	Het
Styxl1	A	T	5: 135,776,664 (GRCm39)	L164H	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,663,267 (GRCm39)	M19V	probably damaging	Het
Trappc8	G	C	18: 20,970,132 (GRCm39)	R953G	probably benign	Het
Trav13-1	A	G	14: 53,782,800 (GRCm39)	N50S	probably benign	Het
Trim12a	T	C	7: 103,955,241 (GRCm39)	K161E	probably benign	Het
Vipr1	C	A	9: 121,493,640 (GRCm39)	N230K	probably damaging	Het
Xirp1	A	T	9: 119,847,557 (GRCm39)	V3E	probably damaging	Het
Zfp768	A	G	7: 126,943,892 (GRCm39)	F82L	probably benign	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
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
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'- GCTTATGGTAGACAACAGCCGC -3'
(R):5'- AAGCTGACCTGGATTTGGCC -3'

Sequencing Primer
(F):5'- GTAGACAACAGCCGCATCCC -3'
(R):5'- AAGGTGCTGGGTGCCTC -3'

Posted On

2018-05-04