Mutagenetix > Incidental Mutations

Incidental Mutation 'R4030:Srebf2'

313201

Institutional Source

Beutler Lab

Gene Symbol

Srebf2

Ensembl Gene

ENSMUSG00000022463

Gene Name

sterol regulatory element binding factor 2

Synonyms

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

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4030 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82147181-82205379 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82178783 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 434 (C434S)

Ref Sequence

ENSEMBL: ENSMUSP00000155022 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023100
AA Change: C474S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: C474S

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: C434S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230105

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	G	1: 53,182,509	S54P	probably benign	Het
2700062C07Rik	C	T	18: 24,475,658	P145L	probably benign	Het
Akap3	A	T	6: 126,865,021	D201V	probably damaging	Het
Ank	A	G	15: 27,544,257	N35D	probably damaging	Het
Bpifb2	T	C	2: 153,891,317	S400P	probably benign	Het
Brd7	A	T	8: 88,332,931	I617N	probably damaging	Het
Cdhr2	C	A	13: 54,717,861	P224Q	probably damaging	Het
Cdon	A	G	9: 35,491,906	N1104S	probably damaging	Het
Ceacam3	T	C	7: 17,158,342	Y337H	probably benign	Het
Chrna5	T	C	9: 54,998,086	W61R	probably damaging	Het
Cntnap2	C	A	6: 46,856,128	F758L	probably benign	Het
Cpsf1	G	A	15: 76,601,779	T397M	possibly damaging	Het
Crhr2	T	C	6: 55,117,677	D32G	probably benign	Het
Dip2b	A	G	15: 100,186,172	Y892C	probably damaging	Het
Dpyd	A	G	3: 118,897,166	D308G	probably benign	Het
Dsp	A	G	13: 38,191,428	N1063S	possibly damaging	Het
E030030I06Rik	C	A	10: 22,149,000	G5C	unknown	Het
Ehbp1	T	C	11: 22,285,498	T32A	probably damaging	Het
Fam159a	G	T	4: 108,383,215	C43*	probably null	Het
Fbxo9	C	A	9: 78,098,341		probably null	Het
Gm13101	T	A	4: 143,965,784	T216S	probably benign	Het
Gpatch3	G	A	4: 133,578,147	R231H	possibly damaging	Het
Gpr68	A	G	12: 100,879,216	L23P	probably damaging	Het
H2-Q6	C	A	17: 35,425,816	Q194K	probably benign	Het
Hmgb1	A	G	5: 149,050,700	M13T	probably benign	Het
Kdm5a	T	A	6: 120,405,113	L706*	probably null	Het
Krt12	A	T	11: 99,422,028	F63L	unknown	Het
Lefty1	T	C	1: 180,937,781	S305P	probably benign	Het
Lgr4	T	C	2: 109,989,751	S102P	probably benign	Het
Loxl4	A	T	19: 42,608,359	V71E	probably damaging	Het
Lrrc36	A	C	8: 105,426,807	N83T	probably damaging	Het
Med26	G	A	8: 72,496,569	R229C	probably damaging	Het
Mgam	G	A	6: 40,754,902	R1351Q	probably damaging	Het
Mkl1	G	A	15: 81,015,784	T729I	probably benign	Het
Mroh8	T	A	2: 157,213,720	D986V	probably damaging	Het
Mrpl49	T	C	19: 6,055,200	D77G	probably benign	Het
Mrps30	T	C	13: 118,380,541	N381D	probably damaging	Het
Olfr1248	C	A	2: 89,617,863	V110F	probably damaging	Het
Omd	T	A	13: 49,589,649	N58K	probably benign	Het
Oog4	A	T	4: 143,440,200	N11K	probably benign	Het
Plpp5	T	A	8: 25,720,604	L74Q	probably damaging	Het
Prex2	T	A	1: 11,208,568	Y1374N	probably benign	Het
Rbak	A	T	5: 143,173,969	I443K	probably damaging	Het
Rhpn1	A	T	15: 75,710,557	S195C	probably damaging	Het
Rnf115	T	A	3: 96,785,983	I210N	probably damaging	Het
Rock2	G	A	12: 16,975,479	V1234I	probably damaging	Het
Scube2	A	G	7: 109,831,771	V407A	probably benign	Het
Serpina3n	G	T	12: 104,411,401		probably null	Het
Slco2b1	A	G	7: 99,682,825	L283P	probably damaging	Het
Spag1	G	A	15: 36,234,301	V736M	probably damaging	Het
Ston2	T	C	12: 91,648,263	Q457R	possibly damaging	Het
Trhr2	T	C	8: 122,360,699	M1V	probably null	Het
Tshz1	T	C	18: 84,014,829	K485E	possibly damaging	Het
Ttn	T	A	2: 76,754,824	I22042F	probably damaging	Het
Vmn2r105	T	C	17: 20,208,754	R687G	probably damaging	Het
Vmn2r73	T	C	7: 85,871,836	Y308C	possibly damaging	Het
Wdr49	C	A	3: 75,323,665	L563F	probably benign	Het
Zfyve9	A	G	4: 108,719,701	V61A	possibly damaging	Het

Other mutations in Srebf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01311:Srebf2	APN	15	82192203	unclassified	probably benign
IGL01409:Srebf2	APN	15	82171218	missense	probably damaging	1.00
IGL01415:Srebf2	APN	15	82177462	missense	probably benign	0.08
IGL01614:Srebf2	APN	15	82178853	missense	probably benign
IGL01985:Srebf2	APN	15	82192359	missense	probably benign	0.01
IGL02423:Srebf2	APN	15	82175097	missense	probably damaging	1.00
IGL02436:Srebf2	APN	15	82197727	missense	probably benign	0.41
IGL02805:Srebf2	APN	15	82169844	missense	probably benign	0.00
IGL02818:Srebf2	APN	15	82185374	missense	probably damaging	0.99
IGL02823:Srebf2	APN	15	82199774	missense	possibly damaging	0.87
IGL02895:Srebf2	APN	15	82147467	missense	possibly damaging	0.72
IGL03064:Srebf2	APN	15	82192222	missense	probably benign	0.01
IGL03378:Srebf2	APN	15	82169788	missense	probably damaging	1.00
FR4449:Srebf2	UTSW	15	82185335	missense	probably damaging	1.00
FR4548:Srebf2	UTSW	15	82185335	missense	probably damaging	1.00
FR4737:Srebf2	UTSW	15	82185335	missense	probably damaging	1.00
FR4976:Srebf2	UTSW	15	82185335	missense	probably damaging	1.00
R0230:Srebf2	UTSW	15	82182085	missense	probably damaging	1.00
R0702:Srebf2	UTSW	15	82177409	missense	probably damaging	1.00
R0829:Srebf2	UTSW	15	82177589	critical splice donor site	probably null
R1241:Srebf2	UTSW	15	82177519	missense	probably damaging	1.00
R1898:Srebf2	UTSW	15	82203735	missense	probably damaging	1.00
R1957:Srebf2	UTSW	15	82194954	missense	probably benign	0.26
R2395:Srebf2	UTSW	15	82192255	missense	probably benign	0.26
R3771:Srebf2	UTSW	15	82182108	missense	probably benign	0.02
R3772:Srebf2	UTSW	15	82182108	missense	probably benign	0.02
R3773:Srebf2	UTSW	15	82182108	missense	probably benign	0.02
R4613:Srebf2	UTSW	15	82185348	missense	possibly damaging	0.94
R4670:Srebf2	UTSW	15	82192302	missense	probably damaging	1.00
R4758:Srebf2	UTSW	15	82196169	missense	probably benign	0.01
R4812:Srebf2	UTSW	15	82203825	missense	probably damaging	0.98
R5058:Srebf2	UTSW	15	82182050	missense	probably damaging	0.99
R5063:Srebf2	UTSW	15	82177451	missense	probably benign
R5155:Srebf2	UTSW	15	82196226	missense	probably damaging	1.00
R5166:Srebf2	UTSW	15	82185402	missense	probably damaging	1.00
R5330:Srebf2	UTSW	15	82196208	missense	possibly damaging	0.88
R5398:Srebf2	UTSW	15	82171242	missense	probably damaging	1.00
R5662:Srebf2	UTSW	15	82195003	missense	probably benign	0.01
R5668:Srebf2	UTSW	15	82192255	missense	probably benign	0.26
R5867:Srebf2	UTSW	15	82169786	missense	probably damaging	1.00
R6030:Srebf2	UTSW	15	82177276	splice site	probably null
R6030:Srebf2	UTSW	15	82177276	splice site	probably null
R6928:Srebf2	UTSW	15	82203723	nonsense	probably null
R7269:Srebf2	UTSW	15	82204069	missense	probably benign	0.00
R7464:Srebf2	UTSW	15	82172874	missense	probably damaging	0.97
R7632:Srebf2	UTSW	15	82185296	missense	probably benign
R7831:Srebf2	UTSW	15	82182087	missense	probably damaging	0.98
R7895:Srebf2	UTSW	15	82177240	missense	probably benign	0.02
R7938:Srebf2	UTSW	15	82172815	missense	probably damaging	1.00
R7974:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R7991:Srebf2	UTSW	15	82204052	missense	probably damaging	1.00
R8002:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R8022:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R8137:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R8138:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R8139:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
X0064:Srebf2	UTSW	15	82175220	missense	probably damaging	1.00
Z1088:Srebf2	UTSW	15	82194921	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCAGAAACATGTGGTTCGTTAGTATC -3'
(R):5'- ACAGGGTCCTTTTGCCACAG -3'

Sequencing Primer
(F):5'- TAGAATGAACTCTGTCGGCC -3'
(R):5'- ACAGCAGGCCACCCAAC -3'

Posted On

2015-04-30