Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01614:Srebf2'

92331

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01614

Quality Score

Status

Chromosome

Chromosomal Location

82147181-82205379 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82178853 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 457 (N457S)

Ref Sequence

ENSEMBL: ENSMUSP00000155022 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023100
AA Change: N497S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: N497S

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 benign
Transcript: ENSMUST00000229336
AA Change: N457S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230105

Coding Region Coverage

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	T	A	17: 43,424,471	S143T	possibly damaging	Het
Arhgap32	G	T	9: 32,260,505	S1527I	probably damaging	Het
Atp8a2	A	G	14: 60,044,988	V128A	probably damaging	Het
Bpi	T	C	2: 158,271,946	F255L	probably damaging	Het
Clptm1	A	T	7: 19,637,700	D269E	probably benign	Het
E2f7	T	C	10: 110,759,978	V63A	probably damaging	Het
Eif4e1b	T	A	13: 54,786,916	I184N	probably damaging	Het
Fam49a	T	C	12: 12,361,573		probably null	Het
Gal3st1	T	A	11: 3,998,996	L401Q	probably damaging	Het
Gm7808	G	A	9: 19,928,146		probably benign	Het
Hdac5	G	A	11: 102,200,028	T741I	probably benign	Het
Ipo5	A	G	14: 120,935,095	T522A	probably benign	Het
Lama5	A	C	2: 180,180,864	F2832V	probably damaging	Het
Ltk	A	C	2: 119,753,487	L230R	probably damaging	Het
Mettl14	A	T	3: 123,373,960		probably benign	Het
Myom1	T	C	17: 71,126,178	F1507L	possibly damaging	Het
Nsd3	T	A	8: 25,666,079	I554K	possibly damaging	Het
Olfr1044	A	T	2: 86,171,397	I140N	possibly damaging	Het
Olfr107	G	A	17: 37,405,638	C30Y	probably benign	Het
Olfr340	T	G	2: 36,452,624	I13S	probably benign	Het
Olfr644	C	T	7: 104,068,369	V221I	probably benign	Het
Prr14	T	A	7: 127,475,133	L279H	probably damaging	Het
Rbm25	G	T	12: 83,659,567	D229Y	probably damaging	Het
Sdk2	T	C	11: 113,793,858	K1926E	probably damaging	Het
Slc25a23	C	T	17: 57,045,579	R435Q	probably null	Het
Stac2	T	C	11: 98,052,948	D12G	probably benign	Het
Tal1	A	C	4: 115,063,128		probably null	Het
Usp25	G	A	16: 77,077,117	R527Q	probably 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
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
R4030:Srebf2	UTSW	15	82178783	missense	probably damaging	1.00
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

Posted On

2013-12-09