Mutagenetix > Incidental Mutation

Incidental Mutation 'R7831:Srebf2'

605661

Institutional Source

Beutler Lab

Gene Symbol

Srebf2

Ensembl Gene

ENSMUSG00000022463

Gene Name

sterol regulatory element binding factor 2

Synonyms

SREBP-2, bHLHd2, nuc, SREBP2, lop13, SREBP2gc

MMRRC Submission

045885-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7831 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82031455-82089580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82066288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 612 (V612E)

Ref Sequence

ENSEMBL: ENSMUSP00000023100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023100] [ENSMUST00000229336]

AlphaFold

Q3U1N2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023100
AA Change: V612E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: V612E

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
low complexity region	56	75	N/A	INTRINSIC
low complexity region	94	104	N/A	INTRINSIC
low complexity region	118	137	N/A	INTRINSIC
low complexity region	178	204	N/A	INTRINSIC
low complexity region	210	235	N/A	INTRINSIC
HLH	325	375	3.54e-15	SMART
low complexity region	383	394	N/A	INTRINSIC
low complexity region	397	408	N/A	INTRINSIC
low complexity region	570	586	N/A	INTRINSIC
low complexity region	617	630	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000229336
AA Change: V572E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (87/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display prenatal lethality. Mice homozygous for an ENU mutation display cataracts and persistent wounds of the skin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,247,404 (GRCm39)	V2384I	possibly damaging	Het
Acsl1	A	G	8: 46,972,043 (GRCm39)	D297G	probably benign	Het
Ap2a1	C	A	7: 44,550,436 (GRCm39)	R944L	probably damaging	Het
Apbb1ip	A	G	2: 22,756,933 (GRCm39)	Y398C	probably damaging	Het
Atp8a2	A	T	14: 60,011,202 (GRCm39)	V968D	probably damaging	Het
Becn1	T	C	11: 101,181,279 (GRCm39)	T341A	probably benign	Het
Card11	G	T	5: 140,859,167 (GRCm39)	S1126R	possibly damaging	Het
Ccdc51	T	C	9: 108,921,058 (GRCm39)	L315S	probably damaging	Het
Cdk12	T	C	11: 98,140,653 (GRCm39)	L1298P	unknown	Het
Cep170b	A	T	12: 112,711,234 (GRCm39)	D1538V	probably benign	Het
Cfap52	A	T	11: 67,826,782 (GRCm39)	F348I	possibly damaging	Het
Clip1	A	T	5: 123,751,342 (GRCm39)	M813K		Het
Col19a1	G	A	1: 24,565,563 (GRCm39)	T256I	unknown	Het
Col6a3	A	T	1: 90,724,268 (GRCm39)	C2027*	probably null	Het
Crisp4	A	T	1: 18,199,013 (GRCm39)	N140K	probably benign	Het
Crocc2	G	T	1: 93,143,195 (GRCm39)	A1266S	probably benign	Het
Cyfip2	G	A	11: 46,087,273 (GRCm39)	R1206C	probably damaging	Het
Cyp24a1	T	A	2: 170,327,860 (GRCm39)	M461L	probably damaging	Het
Cyp2a5	C	T	7: 26,534,940 (GRCm39)	T51I	possibly damaging	Het
Cyp2b19	C	T	7: 26,466,565 (GRCm39)	H398Y	possibly damaging	Het
Cyp4a29	G	A	4: 115,107,367 (GRCm39)	V234I	probably benign	Het
Dicer1	T	G	12: 104,675,059 (GRCm39)	K734N	probably damaging	Het
Dnai1	T	C	4: 41,614,695 (GRCm39)		probably null	Het
Entpd3	G	A	9: 120,373,025 (GRCm39)	G14D	probably damaging	Het
Entrep3	G	A	3: 89,091,520 (GRCm39)		probably null	Het
Ermp1	T	C	19: 29,595,367 (GRCm39)	T634A	probably benign	Het
Evc	C	T	5: 37,476,427 (GRCm39)	G374D	probably damaging	Het
Fcgbp	C	A	7: 27,806,404 (GRCm39)	T2124K	probably damaging	Het
Fgf8	G	A	19: 45,730,876 (GRCm39)	P50S	probably benign	Het
Fmnl1	C	T	11: 103,088,999 (GRCm39)	R1074W	unknown	Het
Galnt18	C	T	7: 111,155,665 (GRCm39)	V223M	possibly damaging	Het
Galnt2	A	G	8: 125,058,817 (GRCm39)	N295S	probably benign	Het
Grip1	T	G	10: 119,854,011 (GRCm39)	V600G	probably damaging	Het
Insm2	T	A	12: 55,647,323 (GRCm39)	C356S	probably damaging	Het
Itpr2	T	A	6: 146,193,082 (GRCm39)	I1672F	probably benign	Het
Kdm1b	T	G	13: 47,204,098 (GRCm39)	N76K	probably benign	Het
Khnyn	T	A	14: 56,125,303 (GRCm39)		probably null	Het
Kidins220	C	T	12: 25,111,230 (GRCm39)	A1167V	possibly damaging	Het
Krt40	T	C	11: 99,432,087 (GRCm39)	D208G	probably benign	Het
Lars1	T	A	18: 42,350,627 (GRCm39)	D894V	probably benign	Het
Lmx1a	A	T	1: 167,668,521 (GRCm39)	N266I	probably benign	Het
Mrgprb5	T	A	7: 47,817,997 (GRCm39)	K246M	probably benign	Het
Mrpl2	G	A	17: 46,959,598 (GRCm39)	G176R	possibly damaging	Het
Muc21	T	A	17: 35,929,651 (GRCm39)	T1512S	unknown	Het
Nell1	T	A	7: 49,632,548 (GRCm39)	F60L	possibly damaging	Het
Nnt	G	A	13: 119,506,630 (GRCm39)	A453V	possibly damaging	Het
Opa1	A	G	16: 29,467,755 (GRCm39)	K940R	probably benign	Het
Opn5	A	C	17: 42,891,510 (GRCm39)	I309S	probably null	Het
Or1af1	C	T	2: 37,109,723 (GRCm39)	T74I	probably damaging	Het
Or1r1	A	C	11: 73,875,257 (GRCm39)	M59R	probably damaging	Het
Or2ag15	T	A	7: 106,340,620 (GRCm39)	I174F	probably damaging	Het
P3h3	T	G	6: 124,832,118 (GRCm39)	E256A	possibly damaging	Het
Pald1	G	T	10: 61,191,593 (GRCm39)	T65K	probably damaging	Het
Pcnx3	T	C	19: 5,735,989 (GRCm39)	Y279C	probably damaging	Het
Pik3c2b	G	A	1: 132,998,980 (GRCm39)	S367N	possibly damaging	Het
Pik3cb	T	C	9: 98,970,666 (GRCm39)	T342A	probably benign	Het
Pkd1l3	A	T	8: 110,357,990 (GRCm39)	E837D	possibly damaging	Het
Ppp2r2b	T	A	18: 42,834,597 (GRCm39)	Y191F	probably benign	Het
Ppp4r4	G	A	12: 103,557,080 (GRCm39)	E439K	possibly damaging	Het
Ptprk	A	G	10: 28,444,404 (GRCm39)	I946V	possibly damaging	Het
Ror1	A	G	4: 100,298,295 (GRCm39)	N556S	probably benign	Het
Ryr3	C	T	2: 112,757,183 (GRCm39)	A391T	possibly damaging	Het
Selp	G	A	1: 163,972,584 (GRCm39)		probably null	Het
Setx	T	A	2: 29,069,866 (GRCm39)	V2557E	possibly damaging	Het
Setx	T	C	2: 29,047,120 (GRCm39)	L1866S	probably damaging	Het
Slc66a3	T	A	12: 17,047,632 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Sorbs3	T	G	14: 70,440,481 (GRCm39)	N89T	possibly damaging	Het
Sorl1	C	A	9: 42,001,257 (GRCm39)	V248L	probably benign	Het
Sv2c	T	A	13: 96,113,200 (GRCm39)	Y583F	probably damaging	Het
Tada1	G	T	1: 166,217,442 (GRCm39)	R193I	probably damaging	Het
Tnrc6b	C	G	15: 80,764,580 (GRCm39)	A694G	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,711,425 (GRCm39)	G8372D	unknown	Het
Ube2g2	A	G	10: 77,470,576 (GRCm39)	T68A		Het
Ubl7	T	G	9: 57,821,918 (GRCm39)	V89G	possibly damaging	Het
Ush2a	T	A	1: 188,492,038 (GRCm39)	I3109N	probably damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r26	T	A	6: 124,016,758 (GRCm39)	Y407*	probably null	Het
Yod1	G	T	1: 130,646,986 (GRCm39)	V288F	probably damaging	Het
Zbed5	A	C	5: 129,930,798 (GRCm39)	N249T	possibly damaging	Het
Zbtb5	T	C	4: 44,995,244 (GRCm39)	T47A	probably damaging	Het
Zcchc14	T	C	8: 122,331,984 (GRCm39)	T460A	not run	Het
Zfp712	A	C	13: 67,200,483 (GRCm39)		probably null	Het
Zfyve16	A	T	13: 92,658,836 (GRCm39)	H358Q	probably benign	Het

Other mutations in Srebf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Srebf2	APN	15	82,076,404 (GRCm39)	unclassified	probably benign
IGL01409:Srebf2	APN	15	82,055,419 (GRCm39)	missense	probably damaging	1.00
IGL01415:Srebf2	APN	15	82,061,663 (GRCm39)	missense	probably benign	0.08
IGL01614:Srebf2	APN	15	82,063,054 (GRCm39)	missense	probably benign
IGL01985:Srebf2	APN	15	82,076,560 (GRCm39)	missense	probably benign	0.01
IGL02423:Srebf2	APN	15	82,059,298 (GRCm39)	missense	probably damaging	1.00
IGL02436:Srebf2	APN	15	82,081,928 (GRCm39)	missense	probably benign	0.41
IGL02805:Srebf2	APN	15	82,054,045 (GRCm39)	missense	probably benign	0.00
IGL02818:Srebf2	APN	15	82,069,575 (GRCm39)	missense	probably damaging	0.99
IGL02823:Srebf2	APN	15	82,083,975 (GRCm39)	missense	possibly damaging	0.87
IGL02895:Srebf2	APN	15	82,031,668 (GRCm39)	missense	possibly damaging	0.72
IGL03064:Srebf2	APN	15	82,076,423 (GRCm39)	missense	probably benign	0.01
IGL03378:Srebf2	APN	15	82,053,989 (GRCm39)	missense	probably damaging	1.00
FR4449:Srebf2	UTSW	15	82,069,536 (GRCm39)	missense	probably damaging	1.00
FR4548:Srebf2	UTSW	15	82,069,536 (GRCm39)	missense	probably damaging	1.00
FR4737:Srebf2	UTSW	15	82,069,536 (GRCm39)	missense	probably damaging	1.00
FR4976:Srebf2	UTSW	15	82,069,536 (GRCm39)	missense	probably damaging	1.00
R0230:Srebf2	UTSW	15	82,066,286 (GRCm39)	missense	probably damaging	1.00
R0702:Srebf2	UTSW	15	82,061,610 (GRCm39)	missense	probably damaging	1.00
R0829:Srebf2	UTSW	15	82,061,790 (GRCm39)	critical splice donor site	probably null
R1241:Srebf2	UTSW	15	82,061,720 (GRCm39)	missense	probably damaging	1.00
R1898:Srebf2	UTSW	15	82,087,936 (GRCm39)	missense	probably damaging	1.00
R1957:Srebf2	UTSW	15	82,079,155 (GRCm39)	missense	probably benign	0.26
R2395:Srebf2	UTSW	15	82,076,456 (GRCm39)	missense	probably benign	0.26
R3771:Srebf2	UTSW	15	82,066,309 (GRCm39)	missense	probably benign	0.02
R3772:Srebf2	UTSW	15	82,066,309 (GRCm39)	missense	probably benign	0.02
R3773:Srebf2	UTSW	15	82,066,309 (GRCm39)	missense	probably benign	0.02
R4030:Srebf2	UTSW	15	82,062,984 (GRCm39)	missense	probably damaging	1.00
R4613:Srebf2	UTSW	15	82,069,549 (GRCm39)	missense	possibly damaging	0.94
R4670:Srebf2	UTSW	15	82,076,503 (GRCm39)	missense	probably damaging	1.00
R4758:Srebf2	UTSW	15	82,080,370 (GRCm39)	missense	probably benign	0.01
R4812:Srebf2	UTSW	15	82,088,026 (GRCm39)	missense	probably damaging	0.98
R5058:Srebf2	UTSW	15	82,066,251 (GRCm39)	missense	probably damaging	0.99
R5063:Srebf2	UTSW	15	82,061,652 (GRCm39)	missense	probably benign
R5155:Srebf2	UTSW	15	82,080,427 (GRCm39)	missense	probably damaging	1.00
R5166:Srebf2	UTSW	15	82,069,603 (GRCm39)	missense	probably damaging	1.00
R5330:Srebf2	UTSW	15	82,080,409 (GRCm39)	missense	possibly damaging	0.88
R5398:Srebf2	UTSW	15	82,055,443 (GRCm39)	missense	probably damaging	1.00
R5662:Srebf2	UTSW	15	82,079,204 (GRCm39)	missense	probably benign	0.01
R5668:Srebf2	UTSW	15	82,076,456 (GRCm39)	missense	probably benign	0.26
R5867:Srebf2	UTSW	15	82,053,987 (GRCm39)	missense	probably damaging	1.00
R6030:Srebf2	UTSW	15	82,061,477 (GRCm39)	splice site	probably null
R6030:Srebf2	UTSW	15	82,061,477 (GRCm39)	splice site	probably null
R6928:Srebf2	UTSW	15	82,087,924 (GRCm39)	nonsense	probably null
R7269:Srebf2	UTSW	15	82,088,270 (GRCm39)	missense	probably benign	0.00
R7464:Srebf2	UTSW	15	82,057,075 (GRCm39)	missense	probably damaging	0.97
R7632:Srebf2	UTSW	15	82,069,497 (GRCm39)	missense	probably benign
R7895:Srebf2	UTSW	15	82,061,441 (GRCm39)	missense	probably benign	0.02
R7938:Srebf2	UTSW	15	82,057,016 (GRCm39)	missense	probably damaging	1.00
R7974:Srebf2	UTSW	15	82,062,966 (GRCm39)	missense	probably damaging	1.00
R7991:Srebf2	UTSW	15	82,088,253 (GRCm39)	missense	probably damaging	1.00
R8002:Srebf2	UTSW	15	82,062,966 (GRCm39)	missense	probably damaging	1.00
R8022:Srebf2	UTSW	15	82,062,966 (GRCm39)	missense	probably damaging	1.00
R8137:Srebf2	UTSW	15	82,062,966 (GRCm39)	missense	probably damaging	1.00
R8138:Srebf2	UTSW	15	82,062,966 (GRCm39)	missense	probably damaging	1.00
R8139:Srebf2	UTSW	15	82,062,966 (GRCm39)	missense	probably damaging	1.00
R9094:Srebf2	UTSW	15	82,056,975 (GRCm39)	missense	possibly damaging	0.88
R9188:Srebf2	UTSW	15	82,066,357 (GRCm39)	missense	probably benign	0.00
R9284:Srebf2	UTSW	15	82,066,357 (GRCm39)	missense	probably benign	0.00
R9366:Srebf2	UTSW	15	82,083,837 (GRCm39)	missense	probably benign	0.00
R9727:Srebf2	UTSW	15	82,076,506 (GRCm39)	missense	possibly damaging	0.50
X0064:Srebf2	UTSW	15	82,059,421 (GRCm39)	missense	probably damaging	1.00
Z1088:Srebf2	UTSW	15	82,079,122 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTTATTCTGCTAACAGGCATGC -3'
(R):5'- CTTCTCACCTGTGATGTGCAG -3'

Sequencing Primer
(F):5'- GCTAACAGGCATGCTTTATTCTG -3'
(R):5'- CCTGTGATGTGCAGCTGGTG -3'

Posted On

2019-12-20