Incidental Mutation 'R8139:Srebf2'
ID |
632440 |
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 |
067567-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8139 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82062966 bp (GRCm39)
|
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: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 94.2%
|
Validation Efficiency |
100% (84/84) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
G |
T |
X: 69,438,120 (GRCm39) |
Q58K |
possibly damaging |
Het |
Aamdc |
T |
C |
7: 97,214,450 (GRCm39) |
M42V |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,074,959 (GRCm39) |
Q1368L |
probably damaging |
Het |
Best3 |
G |
A |
10: 116,840,331 (GRCm39) |
G254R |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,602,697 (GRCm39) |
I1478N |
probably damaging |
Het |
Ccdc113 |
T |
A |
8: 96,285,366 (GRCm39) |
M350K |
possibly damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,896,884 (GRCm39) |
H389L |
probably damaging |
Het |
Cnn3 |
G |
T |
3: 121,248,718 (GRCm39) |
M208I |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,890,698 (GRCm39) |
D345G |
unknown |
Het |
Degs1l |
A |
G |
1: 180,882,358 (GRCm39) |
D40G |
probably damaging |
Het |
Dnah14 |
G |
T |
1: 181,582,853 (GRCm39) |
V3131F |
probably damaging |
Het |
Dst |
T |
A |
1: 34,230,933 (GRCm39) |
M2842K |
probably benign |
Het |
Dus3l |
C |
T |
17: 57,074,058 (GRCm39) |
Q211* |
probably null |
Het |
Eftud2 |
A |
G |
11: 102,758,685 (GRCm39) |
F171S |
probably benign |
Het |
Elac2 |
T |
C |
11: 64,871,440 (GRCm39) |
I117T |
probably benign |
Het |
Fam13b |
A |
G |
18: 34,606,686 (GRCm39) |
C302R |
possibly damaging |
Het |
Fbxl5 |
G |
A |
5: 43,916,087 (GRCm39) |
Q442* |
probably null |
Het |
Fhdc1 |
A |
G |
3: 84,358,790 (GRCm39) |
S370P |
probably damaging |
Het |
Gtf3c6 |
T |
C |
10: 40,133,469 (GRCm39) |
|
probably null |
Het |
I830077J02Rik |
A |
G |
3: 105,835,314 (GRCm39) |
V21A |
probably benign |
Het |
Inf2 |
G |
T |
12: 112,568,074 (GRCm39) |
E209* |
probably null |
Het |
Irag1 |
A |
G |
7: 110,498,879 (GRCm39) |
|
probably null |
Het |
Irs1 |
A |
T |
1: 82,267,460 (GRCm39) |
M252K |
probably damaging |
Het |
Kcng3 |
C |
A |
17: 83,938,516 (GRCm39) |
V178L |
probably damaging |
Het |
Kif16b |
A |
C |
2: 142,743,285 (GRCm39) |
S3A |
probably benign |
Het |
Kit |
T |
C |
5: 75,813,465 (GRCm39) |
M884T |
probably damaging |
Het |
Kmt2a |
A |
T |
9: 44,730,587 (GRCm39) |
|
probably benign |
Het |
Kptn |
T |
C |
7: 15,857,901 (GRCm39) |
I243T |
probably benign |
Het |
Loxhd1 |
G |
A |
18: 77,468,192 (GRCm39) |
E947K |
possibly damaging |
Het |
Lyl1 |
A |
T |
8: 85,429,476 (GRCm39) |
I62L |
probably damaging |
Het |
Mmp24 |
C |
T |
2: 155,655,965 (GRCm39) |
R468* |
probably null |
Het |
Mtx2 |
G |
A |
2: 74,706,714 (GRCm39) |
D230N |
probably benign |
Het |
Ndufa5 |
A |
T |
6: 24,522,757 (GRCm39) |
Y28* |
probably null |
Het |
Notch4 |
G |
T |
17: 34,803,774 (GRCm39) |
E1515* |
probably null |
Het |
Nrxn3 |
A |
G |
12: 90,171,438 (GRCm39) |
N923S |
probably benign |
Het |
Ogfod2 |
C |
T |
5: 124,251,538 (GRCm39) |
T116M |
possibly damaging |
Het |
Oosp1 |
T |
C |
19: 11,645,118 (GRCm39) |
E182G |
possibly damaging |
Het |
Or4c115 |
A |
G |
2: 88,928,187 (GRCm39) |
V28A |
probably benign |
Het |
Or5p67 |
T |
A |
7: 107,922,113 (GRCm39) |
T257S |
probably benign |
Het |
Or7g20 |
A |
T |
9: 18,946,871 (GRCm39) |
I151F |
probably benign |
Het |
Or7g28 |
A |
C |
9: 19,272,504 (GRCm39) |
V49G |
probably damaging |
Het |
Oxnad1 |
C |
A |
14: 31,814,048 (GRCm39) |
T47K |
possibly damaging |
Het |
Pcdha5 |
A |
G |
18: 37,095,791 (GRCm39) |
M767V |
possibly damaging |
Het |
Pcnx3 |
A |
T |
19: 5,715,773 (GRCm39) |
H1444Q |
probably benign |
Het |
Pde4dip |
G |
T |
3: 97,604,309 (GRCm39) |
Q2224K |
probably benign |
Het |
Pgr |
A |
T |
9: 8,956,341 (GRCm39) |
H763L |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,058,510 (GRCm39) |
D3809G |
probably damaging |
Het |
Ppfia1 |
A |
G |
7: 144,074,430 (GRCm39) |
S155P |
probably damaging |
Het |
Ppfia4 |
A |
G |
1: 134,228,266 (GRCm39) |
V1090A |
probably benign |
Het |
Ptgdr |
T |
C |
14: 45,096,142 (GRCm39) |
E190G |
probably benign |
Het |
Rhbdd2 |
T |
A |
5: 135,665,189 (GRCm39) |
C173* |
probably null |
Het |
Rhobtb1 |
C |
A |
10: 69,102,120 (GRCm39) |
P134T |
probably damaging |
Het |
Slc25a36 |
A |
T |
9: 96,962,505 (GRCm39) |
F161L |
probably benign |
Het |
Slc5a11 |
A |
G |
7: 122,869,199 (GRCm39) |
T596A |
probably benign |
Het |
Slco1a6 |
T |
C |
6: 142,035,626 (GRCm39) |
Y566C |
probably damaging |
Het |
Snx15 |
T |
G |
19: 6,169,945 (GRCm39) |
K321T |
probably damaging |
Het |
Snx15 |
T |
C |
19: 6,169,946 (GRCm39) |
K321E |
probably damaging |
Het |
Syt8 |
T |
C |
7: 141,992,005 (GRCm39) |
I32T |
probably benign |
Het |
Thumpd1 |
T |
C |
7: 119,319,808 (GRCm39) |
N53D |
possibly damaging |
Het |
Timm21 |
T |
C |
18: 84,969,263 (GRCm39) |
T54A |
probably benign |
Het |
Tmed10 |
A |
G |
12: 85,391,091 (GRCm39) |
V149A |
probably damaging |
Het |
Tmem108 |
T |
A |
9: 103,377,084 (GRCm39) |
M122L |
probably benign |
Het |
Tram1l1 |
A |
G |
3: 124,115,436 (GRCm39) |
I199V |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,675,802 (GRCm39) |
N156S |
probably benign |
Het |
Vamp9 |
A |
G |
5: 100,072,785 (GRCm39) |
I111V |
probably benign |
Het |
Vars1 |
T |
C |
17: 35,230,480 (GRCm39) |
V521A |
probably benign |
Het |
Vmn2r54 |
G |
T |
7: 12,349,743 (GRCm39) |
T613N |
possibly damaging |
Het |
Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
Vps33a |
T |
C |
5: 123,672,015 (GRCm39) |
K451R |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,113,153 (GRCm39) |
I35T |
probably benign |
Het |
Xpnpep3 |
T |
A |
15: 81,332,660 (GRCm39) |
L399Q |
probably damaging |
Het |
Zfp438 |
T |
C |
18: 5,214,013 (GRCm39) |
E315G |
probably benign |
Het |
Zfp467 |
C |
T |
6: 48,416,268 (GRCm39) |
G128D |
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 |
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 |
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'- TGCAACTGGAGTCTTTCTGAC -3'
(R):5'- AACCCAAGCCAGCATTAGGG -3'
Sequencing Primer
(F):5'- TAGAATGAACTCTGTCGGCC -3'
(R):5'- GGGACCCACCTACCTGACTC -3'
|
Posted On |
2020-06-30 |