Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02436:Srebf2'

293271

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 #

IGL02436

Quality Score

Status

Chromosome

Chromosomal Location

82147181-82205379 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82197727 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 87 (G87S)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000023100
AA Change: G939S

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

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: G939S

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

noncoding transcript
Transcript: ENSMUST00000083531

Predicted Effect

probably benign
Transcript: ENSMUST00000229336
AA Change: G899S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230955
AA Change: G87S

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC005561	T	A	5: 104,521,155	I1181K	probably benign	Het
Carm1	A	T	9: 21,579,462	R209W	probably damaging	Het
Clec4a2	A	G	6: 123,140,678	D185G	possibly damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dyrk3	A	G	1: 131,128,865	S524P	probably benign	Het
Fam46c	C	A	3: 100,472,507	R311L	probably benign	Het
Gm17175	A	T	14: 51,569,651		probably benign	Het
Hdx	A	T	X: 111,600,748	D512E	probably damaging	Het
Hs6st2	T	G	X: 51,680,014	T275P	possibly damaging	Het
Hus1	T	C	11: 9,006,057	I159V	possibly damaging	Het
Lrrc37a	T	C	11: 103,498,177	T2141A	unknown	Het
Ncoa7	A	T	10: 30,694,147	I272N	probably damaging	Het
Olfr286	G	T	15: 98,227,290	C118*	probably null	Het
P3h2	T	C	16: 25,997,200	K188E	probably benign	Het
Pcsk5	A	G	19: 17,564,708		probably null	Het
Pramef12	G	T	4: 144,392,969	P343T	possibly damaging	Het
Scn1a	G	A	2: 66,351,153	P9S	probably benign	Het
Slc7a9	C	A	7: 35,457,053	L307I	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tex30	T	C	1: 44,088,505		probably null	Het
Tnrc6a	C	T	7: 123,184,215	R970*	probably null	Het
Vgll2	A	T	10: 52,025,222	R83*	probably null	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
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
R7914:Srebf2	UTSW	15	82182087	missense	probably damaging	0.98
R7978:Srebf2	UTSW	15	82177240	missense	probably benign	0.02
R8002:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R8022: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

2015-04-16