Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Srebf1'

238122

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

040193-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60089915-60113407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60111365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2 (D2G)

Ref Sequence

ENSEMBL: ENSMUSP00000020846 (fasta)

Gene Model

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

AlphaFold

Q9WTN3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020846
AA Change: D2G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020846
Gene: ENSMUSG00000020538
AA Change: D2G

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: ENSMUST00000136215

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,865 (GRCm39)	S716P	possibly damaging	Het
Abcb5	A	C	12: 118,831,691 (GRCm39)	N1220K	probably damaging	Het
Acsl3	A	T	1: 78,676,857 (GRCm39)	E479D	probably damaging	Het
Actn1	A	T	12: 80,218,576 (GRCm39)	L736*	probably null	Het
Adcyap1	A	G	17: 93,507,454 (GRCm39)	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,714,409 (GRCm39)	N958S	possibly damaging	Het
Armc1	T	A	3: 19,188,225 (GRCm39)	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,796,266 (GRCm39)	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,319,591 (GRCm39)	Q1370K	probably damaging	Het
Cdip1	C	T	16: 4,587,927 (GRCm39)	S12N	probably benign	Het
Chrna3	T	A	9: 54,923,329 (GRCm39)	I160F	probably damaging	Het
Cnot1	A	G	8: 96,488,054 (GRCm39)	I534T	probably damaging	Het
Cr2	T	A	1: 194,845,689 (GRCm39)	I465F	possibly damaging	Het
Daw1	A	G	1: 83,170,384 (GRCm39)	D232G	probably benign	Het
Dcaf6	T	C	1: 165,250,433 (GRCm39)	T144A	probably benign	Het
Dhx30	A	T	9: 109,915,186 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,645,034 (GRCm39)	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,253,856 (GRCm39)	T184A	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edem3	T	A	1: 151,672,634 (GRCm39)	V450D	probably damaging	Het
Ephb6	G	T	6: 41,593,019 (GRCm39)	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811 (GRCm39)	P608R	probably damaging	Het
Flrt1	A	G	19: 7,073,194 (GRCm39)	I451T	probably damaging	Het
Gm6309	A	T	5: 146,105,681 (GRCm39)	V161E	possibly damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Igsf1	C	A	X: 48,872,027 (GRCm39)	L714F	probably damaging	Het
Inpp4b	C	T	8: 82,723,931 (GRCm39)	P488S	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Itprid1	A	T	6: 55,944,704 (GRCm39)	Q475L	probably benign	Het
Kdm2a	A	T	19: 4,406,959 (GRCm39)		probably null	Het
Khdrbs3	G	T	15: 68,964,809 (GRCm39)	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,758,930 (GRCm39)		probably null	Het
Laptm4a	T	C	12: 8,972,296 (GRCm39)		probably null	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc37	A	C	11: 103,509,793 (GRCm39)		probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myo18a	A	G	11: 77,709,441 (GRCm39)	D138G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,587 (GRCm39)	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720 (GRCm39)	R719H	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or2a54	T	C	6: 43,092,999 (GRCm39)	S108P	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or8g23	A	T	9: 38,971,701 (GRCm39)	I87K	probably benign	Het
Pclo	C	T	5: 14,763,862 (GRCm39)	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,634,931 (GRCm39)	N477S	probably benign	Het
Phf20	T	C	2: 156,118,574 (GRCm39)	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,021,680 (GRCm39)		probably null	Het
Plagl1	A	C	10: 13,004,685 (GRCm39)		probably benign	Het
Ppip5k2	A	G	1: 97,671,835 (GRCm39)	V479A	probably damaging	Het
Prkdc	A	C	16: 15,516,688 (GRCm39)	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,724,467 (GRCm39)	V6I	probably benign	Het
Rictor	A	T	15: 6,789,095 (GRCm39)	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,113,772 (GRCm39)		probably null	Het
Setd5	C	T	6: 113,088,390 (GRCm39)	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,443,465 (GRCm39)	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,396 (GRCm39)	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,709,301 (GRCm39)	A52T	probably damaging	Het
Stab1	A	T	14: 30,864,757 (GRCm39)	M66K	probably benign	Het
Stab1	T	C	14: 30,881,227 (GRCm39)	N601S	probably damaging	Het
Sv2b	C	T	7: 74,773,836 (GRCm39)	G545D	probably damaging	Het
Syt5	G	A	7: 4,546,088 (GRCm39)	Q101*	probably null	Het
Thada	A	G	17: 84,753,949 (GRCm39)	F341L	probably benign	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413 (GRCm39)		probably null	Het
Tonsl	G	T	15: 76,516,880 (GRCm39)	L917M	probably damaging	Het
Ttk	A	G	9: 83,744,236 (GRCm39)	K519E	probably damaging	Het
Ttn	T	C	2: 76,537,478 (GRCm39)	T34817A	probably benign	Het
Ubr1	A	T	2: 120,756,528 (GRCm39)	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566 (GRCm39)	C1312*	probably null	Het
Usp36	A	G	11: 118,175,849 (GRCm39)	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,283,403 (GRCm39)	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,723,147 (GRCm39)	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,085,121 (GRCm39)	F289L	probably benign	Het
Ythdf3	T	C	3: 16,257,375 (GRCm39)		probably benign	Het
Zfp507	T	A	7: 35,494,268 (GRCm39)	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,234,442 (GRCm39)	H156R	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGCTCAACCCTAGATCTCAGGC -3'
(R):5'- ATTGCTAGAAACCAGGCTCG -3'

Sequencing Primer
(F):5'- TAGATCTCAGGCGCCAGATC -3'
(R):5'- CTAGAAACCAGGCTCGGGCAG -3'

Posted On

2014-10-02