Mutagenetix > Incidental Mutation

Incidental Mutation 'R7974:Srebf2'

650800

Institutional Source

Beutler Lab

Gene Symbol

Srebf2

Ensembl Gene

ENSMUSG00000022463

Gene Name

sterol regulatory element binding factor 2

Synonyms

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

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82147181-82205379 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82178765 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 468 (R468C)

Ref Sequence

ENSEMBL: ENSMUSP00000023100 (fasta)

Gene Model

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

AlphaFold

Q3U1N2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023100
AA Change: R468C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: R468C

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: ENSMUST00000229336
AA Change: R428C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,044,973		probably null	Het
Adamts19	A	T	18: 59,011,022	Q892L	possibly damaging	Het
Adamts9	A	G	6: 92,909,687		probably null	Het
Aftph	T	C	11: 20,698,233	*686W	probably null	Het
AI661453	T	C	17: 47,466,081	L244P	unknown	Het
Ankar	C	A	1: 72,698,979	E15*	probably null	Het
Ankrd39	A	G	1: 36,546,918		probably benign	Het
Arsi	A	G	18: 60,912,406	D56G	probably damaging	Het
Blmh	T	C	11: 76,965,903	I245T	possibly damaging	Het
Ccr6	T	C	17: 8,256,224	F87S	probably damaging	Het
Cdc42ep2	T	C	19: 5,918,495	K61E	probably damaging	Het
Celsr1	C	T	15: 86,031,030	G914D	probably damaging	Het
Cep126	T	A	9: 8,120,763	K86N	probably benign	Het
Cfap70	A	T	14: 20,420,750	F532I	probably damaging	Het
Cpsf3	T	A	12: 21,308,005	L506Q	probably damaging	Het
Dct	A	C	14: 118,039,655	I273S	probably damaging	Het
Dsel	T	C	1: 111,860,499	I769V	probably benign	Het
Dus2	G	A	8: 106,036,020	E138K	probably benign	Het
Emsy	A	G	7: 98,630,218	S305P	possibly damaging	Het
Erp27	A	T	6: 136,908,065	V245D	probably damaging	Het
Fez1	C	A	9: 36,843,948	T81K	probably damaging	Het
Gli3	A	C	13: 15,726,256	Q1409H	probably benign	Het
Gm10696	T	C	3: 94,175,541	K321R	probably benign	Het
Hdac9	T	C	12: 34,303,220	S664G	possibly damaging	Het
Hibadh	A	G	6: 52,557,895	S167P	probably benign	Het
Hsdl1	A	G	8: 119,566,333	V121A	probably benign	Het
Ighv1-18	A	C	12: 114,683,049	I6S	possibly damaging	Het
Iqcm	T	A	8: 75,554,892	M1K	probably null	Het
Itch	T	C	2: 155,192,159	F417S	probably damaging	Het
Itpr1	C	T	6: 108,523,405	T2653I	possibly damaging	Het
Kank1	T	G	19: 25,424,220	Y1064D	probably damaging	Het
Kmt2c	T	C	5: 25,300,563	Q3249R	probably damaging	Het
Lefty1	T	C	1: 180,937,820	C318R	probably damaging	Het
Lmbr1l	C	T	15: 98,911,619	V147I	probably benign	Het
Meig1	C	A	2: 3,411,874	E37*	probably null	Het
Mpp3	A	G	11: 102,008,354		probably null	Het
Muc3	T	C	5: 137,146,816	N2S		Het
Mup7	T	C	4: 60,067,518	E199G	possibly damaging	Het
Nol4	G	C	18: 22,719,025	Y275*	probably null	Het
Nrxn1	G	A	17: 90,700,779	P429S	probably damaging	Het
Olfr761	T	C	17: 37,952,781	Y81C	probably damaging	Het
Pfkl	A	T	10: 77,994,162	F367L	probably damaging	Het
Pik3cg	T	C	12: 32,204,032	E652G	probably benign	Het
Prkag3	A	G	1: 74,744,821	I301T	probably benign	Het
Rcn1	G	A	2: 105,393,710	P163L	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc37a2	A	T	9: 37,239,125		probably null	Het
Slc9b1	C	T	3: 135,394,030	T437I	possibly damaging	Het
Smap1	T	G	1: 23,849,441	T248P	probably benign	Het
Smpd3	A	C	8: 106,255,622	C617G	probably benign	Het
Spata20	T	C	11: 94,484,140	N212S	possibly damaging	Het
Sphkap	A	C	1: 83,278,962	C355W	probably damaging	Het
Spsb1	T	A	4: 149,907,109	M1L	probably damaging	Het
Stxbp5	A	C	10: 9,770,695		probably null	Het
Taar5	G	C	10: 23,971,222	D173H	possibly damaging	Het
Tfrc	A	G	16: 32,621,283	D438G	probably null	Het
Tinag	A	T	9: 76,999,849	I368K	probably benign	Het
Tm9sf1	A	G	14: 55,636,449	W531R	probably damaging	Het
Tnc	G	T	4: 64,000,724	P1154Q	possibly damaging	Het
Toporsl	A	G	4: 52,611,645	R513G	probably damaging	Het
Ttc30a1	T	C	2: 75,980,344	H465R	probably damaging	Het
Vat1	A	G	11: 101,466,130	S2P	probably benign	Het
Vmn2r107	C	G	17: 20,357,008	P423A	probably benign	Het
Vmn2r2	T	A	3: 64,117,387	E591V	probably damaging	Het
Vmn2r62	G	A	7: 42,764,607	T804I	probably damaging	Het
Vmn2r62	T	A	7: 42,787,857	Y401F	probably damaging	Het
Vmn2r89	A	T	14: 51,456,002	I270F	probably damaging	Het
Zfp418	T	C	7: 7,182,168	F377L	possibly damaging	Het
Zkscan5	T	C	5: 145,207,692	S182P	unknown	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
IGL02436:Srebf2	APN	15	82197727	missense	probably benign	0.41
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
R7938:Srebf2	UTSW	15	82172815	missense	probably damaging	1.00
R7991:Srebf2	UTSW	15	82204052	missense	probably damaging	1.00
R8002:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R8022:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R8137:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R8138:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R8139:Srebf2	UTSW	15	82178765	missense	probably damaging	1.00
R9094:Srebf2	UTSW	15	82172774	missense	possibly damaging	0.88
R9188:Srebf2	UTSW	15	82182156	missense	probably benign	0.00
R9284:Srebf2	UTSW	15	82182156	missense	probably benign	0.00
R9366:Srebf2	UTSW	15	82199636	missense	probably benign	0.00
R9727:Srebf2	UTSW	15	82192305	missense	possibly damaging	0.50
X0064:Srebf2	UTSW	15	82175220	missense	probably damaging	1.00
Z1088:Srebf2	UTSW	15	82194921	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACTCCAGAAACATGTGGTTCG -3'
(R):5'- AACCCAAGCCAGCATTAGGG -3'

Sequencing Primer
(F):5'- TAGAATGAACTCTGTCGGCC -3'
(R):5'- GGGACCCACCTACCTGACTC -3'

Posted On

2020-09-15