Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01415:Srebf2'

80194

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srebf2

Ensembl Gene

ENSMUSG00000022463

Gene Name

sterol regulatory element binding factor 2

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01415

Quality Score

Status

Chromosome

Chromosomal Location

82031455-82089580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82061663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 370 (I370V)

Ref Sequence

ENSEMBL: ENSMUSP00000155022 (fasta)

Gene Model

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

AlphaFold

Q3U1N2

Predicted Effect

probably benign
Transcript: ENSMUST00000023100
AA Change: I410V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: I410V

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: I370V

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230105

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231065

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd44	T	C	1: 54,792,087 (GRCm39)	H316R	probably damaging	Het
Arfgef2	G	A	2: 166,709,275 (GRCm39)	M1117I	probably damaging	Het
Cdc42bpg	A	G	19: 6,360,881 (GRCm39)	D213G	probably damaging	Het
Cfap69	G	A	5: 5,696,979 (GRCm39)	P106S	probably damaging	Het
Chkb	A	T	15: 89,312,987 (GRCm39)	L30H	probably damaging	Het
Cit	A	G	5: 116,079,962 (GRCm39)	K758E	possibly damaging	Het
Clstn3	G	A	6: 124,415,781 (GRCm39)	Q634*	probably null	Het
Efcab15	T	C	11: 103,091,754 (GRCm39)	Q42R	probably damaging	Het
Esrra	C	A	19: 6,890,100 (GRCm39)	W98C	probably damaging	Het
Ganab	A	G	19: 8,892,058 (GRCm39)		probably benign	Het
Gcnt3	G	T	9: 69,941,739 (GRCm39)	H276Q	probably benign	Het
Gm16506	A	G	14: 43,961,630 (GRCm39)	Y206H	probably benign	Het
Gvin3	C	T	7: 106,202,258 (GRCm39)		noncoding transcript	Het
Hkdc1	T	A	10: 62,229,638 (GRCm39)	N680Y	probably damaging	Het
Ighe	A	C	12: 113,235,011 (GRCm39)	L383R	unknown	Het
Lgals9	T	G	11: 78,863,977 (GRCm39)	D56A	probably damaging	Het
Marveld3	G	A	8: 110,688,705 (GRCm39)	T12I	possibly damaging	Het
Nab2	A	T	10: 127,500,972 (GRCm39)	L40Q	probably damaging	Het
Naip6	T	C	13: 100,439,798 (GRCm39)	E323G	probably benign	Het
Nubpl	T	A	12: 52,317,853 (GRCm39)	V182E	possibly damaging	Het
Or2ag15	A	G	7: 106,340,706 (GRCm39)	V145A	probably benign	Het
Or4c11	T	A	2: 88,695,864 (GRCm39)	M305K	probably benign	Het
Or6b3	A	G	1: 92,438,974 (GRCm39)	Y259H	probably damaging	Het
Peg3	A	G	7: 6,714,652 (GRCm39)	I190T	probably damaging	Het
Plcl1	G	A	1: 55,735,555 (GRCm39)	V299M	possibly damaging	Het
Ppp4r1	G	A	17: 66,120,522 (GRCm39)	E219K	probably damaging	Het
Sh3d19	G	A	3: 86,005,492 (GRCm39)	A280T	probably benign	Het
Tfb2m	A	G	1: 179,359,695 (GRCm39)		probably benign	Het
Ttll7	T	G	3: 146,615,354 (GRCm39)	S273A	possibly damaging	Het
Unc79	A	G	12: 103,074,944 (GRCm39)	N1401D	probably damaging	Het
Vmn2r115	T	A	17: 23,578,755 (GRCm39)	S743T	probably damaging	Het
Zfand4	G	A	6: 116,291,830 (GRCm39)	R588Q	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
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
R7831:Srebf2	UTSW	15	82,066,288 (GRCm39)	missense	probably damaging	0.98
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

Posted On

2013-11-05