Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Srebf2'

351000

Institutional Source

Beutler Lab

Gene Symbol

Srebf2

Ensembl Gene

ENSMUSG00000022463

Gene Name

sterol regulatory element binding factor 2

Synonyms

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

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82031455-82089580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82069549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 657 (I657N)

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: I697N

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: I697N

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

possibly damaging
Transcript: ENSMUST00000229336
AA Change: I657N

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229390

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,439,167 (GRCm39)	L130I	probably benign	Het
Abca9	A	G	11: 110,035,610 (GRCm39)	V670A	probably benign	Het
Adad1	A	G	3: 37,146,182 (GRCm39)	N517D	probably damaging	Het
Ankle2	T	C	5: 110,379,245 (GRCm39)	L48P	probably benign	Het
Aoc3	A	T	11: 101,228,485 (GRCm39)		probably benign	Het
Areg	A	G	5: 91,291,363 (GRCm39)	K102R	probably benign	Het
Bmp1	T	C	14: 70,745,963 (GRCm39)	T167A	probably damaging	Het
C4b	C	T	17: 34,953,525 (GRCm39)	G986D	probably benign	Het
Caml	G	T	13: 55,772,955 (GRCm39)	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,122,358 (GRCm39)	R53S	probably benign	Het
Cdh22	T	A	2: 164,985,576 (GRCm39)	I337L	probably benign	Het
Col12a1	A	T	9: 79,554,883 (GRCm39)	V2065D	probably benign	Het
Copg2	A	G	6: 30,788,531 (GRCm39)	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,500,526 (GRCm39)	P438S	probably damaging	Het
Dchs1	T	C	7: 105,421,931 (GRCm39)	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,500,177 (GRCm39)	V230A	probably damaging	Het
Depdc5	T	A	5: 33,132,790 (GRCm39)	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,839,933 (GRCm39)		probably null	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dthd1	A	G	5: 62,984,411 (GRCm39)	D372G	probably damaging	Het
Eeig2	A	T	3: 108,934,571 (GRCm39)	F23I	probably benign	Het
Eogt	G	T	6: 97,111,265 (GRCm39)	Q199K	probably benign	Het
Epha6	C	A	16: 59,486,960 (GRCm39)	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,431,243 (GRCm39)	E128*	probably null	Het
Fgf20	T	C	8: 40,739,652 (GRCm39)	R33G	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip2a	C	A	19: 57,359,619 (GRCm39)	P53Q	probably damaging	Het
Gba1	C	T	3: 89,115,951 (GRCm39)		probably null	Het
Gli2	A	G	1: 118,765,241 (GRCm39)	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,219,289 (GRCm39)	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,685,319 (GRCm39)	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,096,653 (GRCm39)	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,158,693 (GRCm39)	S652T	unknown	Het
Ldb2	G	T	5: 44,633,893 (GRCm39)	Q326K	probably benign	Het
Lipi	C	A	16: 75,357,689 (GRCm39)	R292L	probably benign	Het
Lrrc36	G	A	8: 106,176,246 (GRCm39)	V207I	possibly damaging	Het
Lyplal1	C	T	1: 185,820,949 (GRCm39)	G166D	probably benign	Het
Map1b	A	T	13: 99,566,810 (GRCm39)	Y1970*	probably null	Het
Map2	A	G	1: 66,464,628 (GRCm39)	N287D	probably damaging	Het
Map3k11	G	T	19: 5,747,499 (GRCm39)	Q578H	probably damaging	Het
Map3k11	A	T	19: 5,747,498 (GRCm39)	Q578L	probably benign	Het
Map4k4	G	A	1: 40,056,351 (GRCm39)	S1012N	probably benign	Het
Mapk13	A	T	17: 28,988,426 (GRCm39)	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,867,759 (GRCm39)	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,097,456 (GRCm39)	R152L	possibly damaging	Het
Mtrex	C	A	13: 113,058,273 (GRCm39)	E53*	probably null	Het
Muc5ac	T	G	7: 141,344,840 (GRCm39)	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,486,440 (GRCm39)	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,489,737 (GRCm39)	H647Q	probably benign	Het
Neo1	A	G	9: 58,796,324 (GRCm39)	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,490,186 (GRCm39)	T514A	probably benign	Het
Or10al4	A	G	17: 38,037,587 (GRCm39)	Y224C	probably damaging	Het
Or12j4	A	T	7: 140,046,981 (GRCm39)	Y289F	probably damaging	Het
Or7a42	A	G	10: 78,791,899 (GRCm39)	N287D	probably damaging	Het
Or8d4	T	A	9: 40,039,018 (GRCm39)	K80*	probably null	Het
Orc2	A	T	1: 58,539,468 (GRCm39)	L57*	probably null	Het
Otoa	G	A	7: 120,744,791 (GRCm39)	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,717,247 (GRCm39)	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,616,742 (GRCm39)	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,283,753 (GRCm39)	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,237,187 (GRCm39)	D108G	probably benign	Het
Pink1	T	C	4: 138,044,621 (GRCm39)	D342G	probably damaging	Het
Prkacb	A	T	3: 146,443,753 (GRCm39)	V336E	probably damaging	Het
Ptpro	C	A	6: 137,393,834 (GRCm39)	S13*	probably null	Het
Rfng	A	G	11: 120,673,476 (GRCm39)	L215P	probably damaging	Het
Rpn2	T	C	2: 157,144,345 (GRCm39)	F336L	possibly damaging	Het
Sacs	A	G	14: 61,449,246 (GRCm39)		probably null	Het
Sirpb1a	T	A	3: 15,482,097 (GRCm39)	Y77F	probably benign	Het
Slc30a8	A	G	15: 52,196,971 (GRCm39)	D294G	probably benign	Het
Sox13	T	C	1: 133,316,672 (GRCm39)	I212V	probably benign	Het
Srsf6	C	A	2: 162,775,629 (GRCm39)	T146K	probably benign	Het
Strn4	T	C	7: 16,558,088 (GRCm39)	V162A	possibly damaging	Het
Sulf2	T	C	2: 165,974,525 (GRCm39)	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,411,789 (GRCm39)	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,437,475 (GRCm39)	A278S	probably damaging	Het
Tnrc6a	T	G	7: 122,783,512 (GRCm39)		probably null	Het
Vmn1r83	T	C	7: 12,055,695 (GRCm39)	I121V	probably benign	Het
Vps13d	T	C	4: 144,858,225 (GRCm39)	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,206,230 (GRCm39)	D397E	probably damaging	Het
Wipf3	T	C	6: 54,462,540 (GRCm39)	L250P	probably damaging	Het
Xirp1	A	G	9: 119,848,748 (GRCm39)	F45S	probably damaging	Het
Xpo5	A	G	17: 46,547,889 (GRCm39)	T910A	probably benign	Het
Zfp235	T	C	7: 23,841,101 (GRCm39)	Y507H	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
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
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

Predicted Primers

PCR Primer
(F):5'- TAGTCCTTCGTGGCCAAAGG -3'
(R):5'- CCAGGATGGGAAAGCACTCA -3'

Sequencing Primer
(F):5'- CTAAAACCCCTGAGTCTGTAGGTG -3'
(R):5'- TGGCCTGACTGCAAAATGTC -3'

Posted On

2015-10-08