Incidental Mutation 'R8137:Srebf2'
| ID |
632321 |
| 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 |
067565-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8137 (G1)
|
| Quality Score |
173.009 |
|
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: 98.8%
- 20x: 96.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankfn1 |
T |
G |
11: 89,344,003 (GRCm39) |
Q326H |
probably benign |
Het |
| Carf |
G |
A |
1: 60,187,124 (GRCm39) |
V576I |
probably benign |
Het |
| Ccnl1 |
C |
T |
3: 65,865,291 (GRCm39) |
D87N |
possibly damaging |
Het |
| Cgref1 |
T |
A |
5: 31,091,749 (GRCm39) |
D111V |
possibly damaging |
Het |
| Cnot4 |
G |
A |
6: 35,023,222 (GRCm39) |
P567S |
unknown |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,765 (GRCm39) |
D149E |
probably benign |
Het |
| Dcc |
A |
T |
18: 71,511,783 (GRCm39) |
D877E |
probably benign |
Het |
| Dhx8 |
T |
A |
11: 101,654,808 (GRCm39) |
I1032N |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,272,913 (GRCm39) |
Y2347C |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,029,041 (GRCm39) |
S63P |
possibly damaging |
Het |
| Dyrk2 |
C |
T |
10: 118,695,789 (GRCm39) |
E490K |
probably benign |
Het |
| Fcgbp |
A |
C |
7: 27,804,496 (GRCm39) |
Y1868S |
probably damaging |
Het |
| Foxa2 |
T |
C |
2: 147,885,768 (GRCm39) |
H355R |
probably benign |
Het |
| Fpr-rs7 |
A |
G |
17: 20,334,055 (GRCm39) |
V145A |
possibly damaging |
Het |
| Gm14137 |
A |
T |
2: 119,005,837 (GRCm39) |
E132V |
probably benign |
Het |
| Gpn2 |
T |
C |
4: 133,315,873 (GRCm39) |
S211P |
possibly damaging |
Het |
| Greb1l |
A |
T |
18: 10,474,357 (GRCm39) |
Q224L |
possibly damaging |
Het |
| Gspt1 |
A |
G |
16: 11,058,532 (GRCm39) |
V144A |
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,589,188 (GRCm39) |
I81T |
possibly damaging |
Het |
| Il27ra |
T |
A |
8: 84,767,720 (GRCm39) |
|
probably null |
Het |
| Kif21a |
T |
C |
15: 90,852,645 (GRCm39) |
T862A |
probably benign |
Het |
| Klf2 |
T |
C |
8: 73,074,088 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
A |
G |
5: 23,706,952 (GRCm39) |
Y1505C |
probably damaging |
Het |
| Mcm9 |
T |
C |
10: 53,499,076 (GRCm39) |
T216A |
|
Het |
| Muc16 |
T |
C |
9: 18,556,972 (GRCm39) |
E3107G |
unknown |
Het |
| Ncor2 |
C |
T |
5: 125,114,957 (GRCm39) |
V169I |
|
Het |
| Oas3 |
T |
C |
5: 120,915,565 (GRCm39) |
Q42R |
probably benign |
Het |
| Or2l5 |
A |
G |
16: 19,333,846 (GRCm39) |
V180A |
possibly damaging |
Het |
| Or4p8 |
T |
C |
2: 88,727,013 (GRCm39) |
*309W |
probably null |
Het |
| Pde10a |
A |
G |
17: 9,193,647 (GRCm39) |
Y693C |
possibly damaging |
Het |
| Pde11a |
T |
C |
2: 76,041,383 (GRCm39) |
E429G |
possibly damaging |
Het |
| Pramel23 |
A |
G |
4: 143,425,835 (GRCm39) |
F36S |
probably damaging |
Het |
| Pygo1 |
A |
G |
9: 72,852,140 (GRCm39) |
H109R |
probably damaging |
Het |
| Rbsn |
A |
T |
6: 92,167,003 (GRCm39) |
V547D |
probably benign |
Het |
| Ros1 |
A |
G |
10: 52,001,933 (GRCm39) |
I1084T |
possibly damaging |
Het |
| Sis |
T |
C |
3: 72,796,378 (GRCm39) |
D1801G |
probably benign |
Het |
| Slco4c1 |
C |
T |
1: 96,748,970 (GRCm39) |
G649E |
probably damaging |
Het |
| Spmip10 |
A |
G |
18: 56,727,653 (GRCm39) |
D117G |
probably damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,787,431 (GRCm39) |
I914F |
possibly damaging |
Het |
| Strc |
C |
T |
2: 121,197,219 (GRCm39) |
G1503R |
probably damaging |
Het |
| Sv2c |
T |
A |
13: 96,225,171 (GRCm39) |
Y46F |
probably damaging |
Het |
| Tctn3 |
A |
T |
19: 40,593,785 (GRCm39) |
W462R |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,109,525 (GRCm39) |
D857G |
probably benign |
Het |
| Tor1aip2 |
C |
T |
1: 155,939,414 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,800,273 (GRCm39) |
I312F |
unknown |
Het |
| Vezt |
T |
C |
10: 93,775,154 (GRCm39) |
N94D |
|
Het |
| Vmn2r105 |
T |
C |
17: 20,454,966 (GRCm39) |
N57D |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,212,011 (GRCm39) |
D353G |
|
Het |
| Ykt6 |
T |
C |
11: 5,909,368 (GRCm39) |
V59A |
probably damaging |
Het |
| Ypel3 |
T |
G |
7: 126,377,269 (GRCm39) |
V54G |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,268 (GRCm39) |
C329S |
possibly damaging |
Het |
| Zfp451 |
A |
T |
1: 33,821,156 (GRCm39) |
L232H |
possibly damaging |
Het |
| Zfp648 |
A |
G |
1: 154,081,110 (GRCm39) |
H423R |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,740,861 (GRCm39) |
Y468C |
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 |
|
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'- TGACTCCAGAAACATGTGGTTCG -3'
(R):5'- AACCCAAGCCAGCATTAGGG -3'
Sequencing Primer
(F):5'- TAGAATGAACTCTGTCGGCC -3'
(R):5'- GGGACCCACCTACCTGACTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation