Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02823:Srebf2'

361101

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 #

IGL02823

Quality Score

Status

Chromosome

Chromosomal Location

82031455-82089580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82083975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 965 (G965D)

Ref Sequence

ENSEMBL: ENSMUSP00000155022 (fasta)

Gene Model

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

AlphaFold

Q3U1N2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023100
AA Change: G1005D

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: G1005D

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

possibly damaging
Transcript: ENSMUST00000229336
AA Change: G965D

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000230955
AA Change: G153D

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,410,074 (GRCm39)	S194P	probably damaging	Het
Abca7	T	A	10: 79,844,656 (GRCm39)	D1488E	probably damaging	Het
Abhd18	A	G	3: 40,887,953 (GRCm39)		probably benign	Het
Atp6ap1l	A	G	13: 91,047,644 (GRCm39)	V56A	probably benign	Het
Atrip	A	G	9: 108,890,246 (GRCm39)	Y631H	probably damaging	Het
C9orf72	A	T	4: 35,213,031 (GRCm39)	C215S	probably damaging	Het
Dst	A	T	1: 34,231,164 (GRCm39)	H3097L	possibly damaging	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
Eif2a	G	T	3: 58,456,092 (GRCm39)	A364S	probably benign	Het
Eps8l2	A	T	7: 140,921,988 (GRCm39)	D22V	probably damaging	Het
Fndc7	A	G	3: 108,776,487 (GRCm39)	F432S	probably damaging	Het
Gemin5	T	C	11: 58,058,531 (GRCm39)		probably benign	Het
Grxcr2	T	C	18: 42,125,046 (GRCm39)	K121E	probably damaging	Het
Gucy1a2	T	C	9: 3,894,656 (GRCm39)	I713T	possibly damaging	Het
Hs3st1	A	G	5: 39,772,100 (GRCm39)	L181P	probably damaging	Het
Ksr1	C	A	11: 78,912,229 (GRCm39)	V627L	probably benign	Het
Lama2	T	C	10: 26,877,141 (GRCm39)	N2682D	probably damaging	Het
Lratd2	T	C	15: 60,694,972 (GRCm39)	D258G	probably damaging	Het
Map3k19	G	T	1: 127,750,001 (GRCm39)	H1117N	probably benign	Het
Mdc1	C	T	17: 36,163,815 (GRCm39)	A1121V	probably damaging	Het
Nlrp1a	C	T	11: 70,983,249 (GRCm39)	S1239N	probably damaging	Het
Or2w3	T	C	11: 58,556,793 (GRCm39)	M136T	possibly damaging	Het
Prkra	G	T	2: 76,460,768 (GRCm39)	A310E	probably damaging	Het
Prl2c1	T	C	13: 28,040,416 (GRCm39)		probably benign	Het
Prl7a2	T	C	13: 27,846,734 (GRCm39)	Y93C	possibly damaging	Het
Prob1	A	T	18: 35,785,800 (GRCm39)	V818E	possibly damaging	Het
Rbbp8	A	G	18: 11,865,270 (GRCm39)	S720G	possibly damaging	Het
Rexo4	T	C	2: 26,852,489 (GRCm39)	T149A	probably benign	Het
Slc39a2	T	A	14: 52,132,869 (GRCm39)	Y271N	probably damaging	Het
Sprr2d	T	A	3: 92,247,734 (GRCm39)	C58*	probably null	Het
Tcof1	T	C	18: 60,949,120 (GRCm39)	E1265G	probably benign	Het
Terf2	T	C	8: 107,799,257 (GRCm39)	N389S	possibly damaging	Het
Vsig10l	T	C	7: 43,115,888 (GRCm39)	S410P	probably damaging	Het
Vwa3b	A	T	1: 37,225,985 (GRCm39)		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
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
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

2015-12-18