Incidental Mutation 'R3773:Srebf2'
| ID |
273459 |
| 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 |
040749-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3773 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82066309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 579
(K579R)
|
| 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: K619R
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: K619R
| 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: K579R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229390
|
| Meta Mutation Damage Score |
0.0700 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,532,046 (GRCm39) |
K899N |
probably benign |
Het |
| Acsbg3 |
T |
C |
17: 57,183,262 (GRCm39) |
M1T |
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,647,162 (GRCm39) |
S3126L |
probably damaging |
Het |
| Apba3 |
C |
A |
10: 81,108,443 (GRCm39) |
|
probably null |
Het |
| Apobec4 |
G |
T |
1: 152,632,556 (GRCm39) |
A195S |
probably benign |
Het |
| Asap3 |
C |
T |
4: 135,954,886 (GRCm39) |
T72I |
probably benign |
Het |
| Cand2 |
T |
A |
6: 115,762,178 (GRCm39) |
H201Q |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
A |
G |
17: 17,594,913 (GRCm39) |
D16G |
probably damaging |
Het |
| Csgalnact2 |
T |
C |
6: 118,103,180 (GRCm39) |
K19E |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,743 (GRCm39) |
E263G |
probably benign |
Het |
| Cyp17a1 |
T |
G |
19: 46,658,162 (GRCm39) |
K250T |
probably damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dgcr8 |
T |
C |
16: 18,074,639 (GRCm39) |
D712G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,724,919 (GRCm39) |
W442R |
probably damaging |
Het |
| Elavl2 |
C |
T |
4: 91,152,325 (GRCm39) |
G131R |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,804,650 (GRCm39) |
V105A |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 63,989,264 (GRCm39) |
D270G |
probably damaging |
Het |
| Fmn1 |
T |
G |
2: 113,412,463 (GRCm39) |
S996A |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,595,433 (GRCm39) |
E109D |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,321,663 (GRCm39) |
R999S |
probably damaging |
Het |
| Gak |
G |
A |
5: 108,730,538 (GRCm39) |
T956I |
probably benign |
Het |
| Gps2 |
T |
C |
11: 69,806,927 (GRCm39) |
F21L |
probably damaging |
Het |
| Grhl3 |
C |
T |
4: 135,283,158 (GRCm39) |
W303* |
probably null |
Het |
| Hmcn2 |
C |
T |
2: 31,250,908 (GRCm39) |
T790M |
probably damaging |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Matk |
T |
A |
10: 81,094,131 (GRCm39) |
L21Q |
probably benign |
Het |
| Mthfr |
T |
C |
4: 148,128,907 (GRCm39) |
V160A |
probably benign |
Het |
| Nhlrc4 |
T |
A |
17: 26,162,367 (GRCm39) |
K127* |
probably null |
Het |
| Nsd1 |
G |
A |
13: 55,394,486 (GRCm39) |
V696I |
probably benign |
Het |
| Nup210l |
T |
G |
3: 90,027,201 (GRCm39) |
Y194* |
probably null |
Het |
| Or1j16 |
A |
T |
2: 36,530,333 (GRCm39) |
Y94F |
probably benign |
Het |
| Or2h2 |
G |
T |
17: 37,396,957 (GRCm39) |
Y33* |
probably null |
Het |
| Or7a41 |
G |
A |
10: 78,871,014 (GRCm39) |
C128Y |
possibly damaging |
Het |
| Or9q2 |
T |
A |
19: 13,772,568 (GRCm39) |
M136L |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,943 (GRCm39) |
V725D |
probably benign |
Het |
| Pes1 |
A |
G |
11: 3,925,548 (GRCm39) |
Y221C |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,266,535 (GRCm39) |
I603V |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,624,987 (GRCm39) |
E97G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,735,978 (GRCm39) |
T152A |
possibly damaging |
Het |
| Rims1 |
T |
C |
1: 22,492,034 (GRCm39) |
D842G |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnf26rt |
C |
T |
6: 76,473,942 (GRCm39) |
V225I |
probably benign |
Het |
| Rngtt |
T |
C |
4: 33,330,889 (GRCm39) |
I164T |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,313,992 (GRCm39) |
N1909D |
probably benign |
Het |
| Shisal1 |
A |
T |
15: 84,290,886 (GRCm39) |
Y120* |
probably null |
Het |
| Ska3 |
C |
T |
14: 58,047,534 (GRCm39) |
V334I |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,918,061 (GRCm39) |
K605R |
probably benign |
Het |
| Stxbp5 |
G |
A |
10: 9,644,671 (GRCm39) |
T960I |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,671,565 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,242,292 (GRCm39) |
T2094A |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,344,087 (GRCm39) |
R227W |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,805,893 (GRCm39) |
S1517P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,748,177 (GRCm39) |
S2492P |
probably damaging |
Het |
| Tsg101 |
T |
C |
7: 46,539,363 (GRCm39) |
*254W |
probably null |
Het |
| Ttn |
T |
C |
2: 76,601,711 (GRCm39) |
T16872A |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
| Upb1 |
T |
A |
10: 75,275,672 (GRCm39) |
|
probably null |
Het |
| Vmn1r32 |
T |
A |
6: 66,530,351 (GRCm39) |
I142F |
probably benign |
Het |
| Vmn1r60 |
C |
A |
7: 5,547,710 (GRCm39) |
C130F |
possibly damaging |
Het |
| Vmn2r101 |
A |
G |
17: 19,809,919 (GRCm39) |
D235G |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,979,241 (GRCm39) |
R282Q |
possibly damaging |
Het |
| Xrn2 |
T |
C |
2: 146,903,207 (GRCm39) |
V765A |
probably benign |
Het |
| Zbed4 |
T |
C |
15: 88,665,050 (GRCm39) |
S373P |
probably benign |
Het |
| Zfp251 |
A |
G |
15: 76,737,836 (GRCm39) |
I414T |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,507,140 (GRCm39) |
L1047Q |
probably benign |
Het |
| Zfp426 |
A |
T |
9: 20,384,413 (GRCm39) |
|
probably null |
Het |
| Zfp61 |
T |
C |
7: 23,995,406 (GRCm39) |
M1V |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGTTAAACCCAAAAGGCAG -3'
(R):5'- TGGAGCGCTTGCAAAACAAC -3'
Sequencing Primer
(F):5'- GAGGTAAGGCCAGTGACCATTATTC -3'
(R):5'- ACCCAAGGAAGAGGCGCTC -3'
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| Posted On |
2015-03-25 |
Incidental Mutation