Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03378:Srebf2'

420575

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 #

IGL03378

Quality Score

Status

Chromosome

Chromosomal Location

82031455-82089580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82053989 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 17 (S17P)

Ref Sequence

ENSEMBL: ENSMUSP00000154839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023100] [ENSMUST00000229009] [ENSMUST00000229336]

AlphaFold

Q3U1N2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023100
AA Change: S47P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: S47P

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: ENSMUST00000229009
AA Change: S17P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229336
AA Change: S47P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229518

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430069I07Rik	T	A	15: 34,355,778 (GRCm39)	I261N	probably benign	Het
Bace1	T	A	9: 45,770,199 (GRCm39)		probably null	Het
Caprin2	G	T	6: 148,779,352 (GRCm39)	Q152K	probably benign	Het
Cdh16	C	T	8: 105,345,917 (GRCm39)	D285N	probably benign	Het
Cnnm2	G	A	19: 46,866,473 (GRCm39)	A874T	possibly damaging	Het
Dhx38	A	T	8: 110,285,722 (GRCm39)		probably null	Het
Dnhd1	A	C	7: 105,362,940 (GRCm39)	E3834A	possibly damaging	Het
Erc2	A	C	14: 27,733,680 (GRCm39)	S585R	probably damaging	Het
Gli3	A	G	13: 15,819,005 (GRCm39)	E269G	probably damaging	Het
Gpr161	T	C	1: 165,138,077 (GRCm39)	L204P	probably damaging	Het
Hp	A	G	8: 110,302,339 (GRCm39)	V203A	probably damaging	Het
Krtap6-5	A	T	16: 88,844,677 (GRCm39)	C19S	unknown	Het
Lce1i	A	T	3: 92,685,033 (GRCm39)	S48T	unknown	Het
Lrp2	A	T	2: 69,261,496 (GRCm39)	S4482T	probably damaging	Het
Mpdz	A	T	4: 81,337,285 (GRCm39)		probably benign	Het
Or1q1	T	C	2: 36,886,915 (GRCm39)	F31S	probably damaging	Het
Or4c100	T	A	2: 88,356,498 (GRCm39)	Y190*	probably null	Het
Or8k18	T	A	2: 86,085,363 (GRCm39)	I225L	possibly damaging	Het
Papola	G	T	12: 105,775,692 (GRCm39)		probably null	Het
Prss23	T	C	7: 89,159,352 (GRCm39)	D239G	probably damaging	Het
Setd2	A	G	9: 110,382,220 (GRCm39)	T83A	unknown	Het
Sh3pxd2b	T	G	11: 32,331,443 (GRCm39)	L56V	probably damaging	Het
Ski	A	G	4: 155,245,329 (GRCm39)	S300P	probably benign	Het
Svs5	C	A	2: 164,175,260 (GRCm39)	H37Q	probably benign	Het
Tbx21	A	G	11: 97,005,567 (GRCm39)	S133P	probably benign	Het
Tgfbr3	G	T	5: 107,257,568 (GRCm39)	S830R	probably damaging	Het
Thsd1	A	T	8: 22,733,794 (GRCm39)	K280N	probably benign	Het
Tnfrsf13c	T	A	15: 82,108,513 (GRCm39)	M1L	probably benign	Het
Ttll7	T	C	3: 146,615,408 (GRCm39)	F291L	probably benign	Het
Ttn	A	G	2: 76,599,907 (GRCm39)	V10762A	probably damaging	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
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

2016-08-02