Incidental Mutation 'R4030:Srebf2'
| ID |
313201 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4030 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 82062984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 434
(C434S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023100]
[ENSMUST00000229336]
|
| AlphaFold |
Q3U1N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023100
AA Change: C474S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: C474S
| 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: C434S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230105
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
A |
G |
1: 53,221,668 (GRCm39) |
S54P |
probably benign |
Het |
| 2700062C07Rik |
C |
T |
18: 24,608,715 (GRCm39) |
P145L |
probably benign |
Het |
| Akap3 |
A |
T |
6: 126,841,984 (GRCm39) |
D201V |
probably damaging |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,733,237 (GRCm39) |
S400P |
probably benign |
Het |
| Brd7 |
A |
T |
8: 89,059,559 (GRCm39) |
I617N |
probably damaging |
Het |
| Cdhr2 |
C |
A |
13: 54,865,674 (GRCm39) |
P224Q |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,403,202 (GRCm39) |
N1104S |
probably damaging |
Het |
| Ceacam3 |
T |
C |
7: 16,892,267 (GRCm39) |
Y337H |
probably benign |
Het |
| Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
| Cntnap2 |
C |
A |
6: 46,833,062 (GRCm39) |
F758L |
probably benign |
Het |
| Cpsf1 |
G |
A |
15: 76,485,979 (GRCm39) |
T397M |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,094,662 (GRCm39) |
D32G |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dpyd |
A |
G |
3: 118,690,815 (GRCm39) |
D308G |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,375,404 (GRCm39) |
N1063S |
possibly damaging |
Het |
| E030030I06Rik |
C |
A |
10: 22,024,899 (GRCm39) |
G5C |
unknown |
Het |
| Ehbp1 |
T |
C |
11: 22,235,498 (GRCm39) |
T32A |
probably damaging |
Het |
| Fbxo9 |
C |
A |
9: 78,005,623 (GRCm39) |
|
probably null |
Het |
| Gpatch3 |
G |
A |
4: 133,305,458 (GRCm39) |
R231H |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| H2-Q6 |
C |
A |
17: 35,644,792 (GRCm39) |
Q194K |
probably benign |
Het |
| Hmgb1 |
A |
G |
5: 148,987,510 (GRCm39) |
M13T |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,382,074 (GRCm39) |
L706* |
probably null |
Het |
| Krt12 |
A |
T |
11: 99,312,854 (GRCm39) |
F63L |
unknown |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,820,096 (GRCm39) |
S102P |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,596,798 (GRCm39) |
V71E |
probably damaging |
Het |
| Lrrc36 |
A |
C |
8: 106,153,439 (GRCm39) |
N83T |
probably damaging |
Het |
| Med26 |
G |
A |
8: 73,250,413 (GRCm39) |
R229C |
probably damaging |
Het |
| Mgam |
G |
A |
6: 40,731,836 (GRCm39) |
R1351Q |
probably damaging |
Het |
| Mroh8 |
T |
A |
2: 157,055,640 (GRCm39) |
D986V |
probably damaging |
Het |
| Mrpl49 |
T |
C |
19: 6,105,230 (GRCm39) |
D77G |
probably benign |
Het |
| Mrps30 |
T |
C |
13: 118,517,077 (GRCm39) |
N381D |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,899,985 (GRCm39) |
T729I |
probably benign |
Het |
| Omd |
T |
A |
13: 49,743,125 (GRCm39) |
N58K |
probably benign |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Or4a75 |
C |
A |
2: 89,448,207 (GRCm39) |
V110F |
probably damaging |
Het |
| Plpp5 |
T |
A |
8: 26,210,631 (GRCm39) |
L74Q |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,278,792 (GRCm39) |
Y1374N |
probably benign |
Het |
| Rbak |
A |
T |
5: 143,159,724 (GRCm39) |
I443K |
probably damaging |
Het |
| Rhpn1 |
A |
T |
15: 75,582,406 (GRCm39) |
S195C |
probably damaging |
Het |
| Rnf115 |
T |
A |
3: 96,693,299 (GRCm39) |
I210N |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 17,025,480 (GRCm39) |
V1234I |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,430,978 (GRCm39) |
V407A |
probably benign |
Het |
| Serpina3n |
G |
T |
12: 104,377,660 (GRCm39) |
|
probably null |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,332,032 (GRCm39) |
L283P |
probably damaging |
Het |
| Spag1 |
G |
A |
15: 36,234,447 (GRCm39) |
V736M |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Trhr2 |
T |
C |
8: 123,087,438 (GRCm39) |
M1V |
probably null |
Het |
| Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vmn2r105 |
T |
C |
17: 20,429,016 (GRCm39) |
R687G |
probably damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,521,044 (GRCm39) |
Y308C |
possibly damaging |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
probably benign |
Het |
| Zfyve9 |
A |
G |
4: 108,576,898 (GRCm39) |
V61A |
possibly 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 |
|
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'- CCAGAAACATGTGGTTCGTTAGTATC -3'
(R):5'- ACAGGGTCCTTTTGCCACAG -3'
Sequencing Primer
(F):5'- TAGAATGAACTCTGTCGGCC -3'
(R):5'- ACAGCAGGCCACCCAAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation