Incidental Mutation 'R7029:Srebf1'
| ID |
546187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srebf1
|
| Ensembl Gene |
ENSMUSG00000020538 |
| Gene Name |
sterol regulatory element binding transcription factor 1 |
| Synonyms |
SREBP1c, bHLHd1, SREBP1, ADD-1, SREBP-1c, SREBP-1, SREBP-1a |
| MMRRC Submission |
045130-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7029 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60089915-60113407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60097810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 98
(E98G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020846]
[ENSMUST00000144942]
|
| AlphaFold |
Q9WTN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020846
AA Change: E122G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020846
Gene: ENSMUSG00000020538
AA Change: E122G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
70 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
105 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
203 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
225 |
235 |
N/A |
INTRINSIC |
|
HLH
|
323 |
373 |
6.71e-16 |
SMART |
|
low complexity region
|
420 |
453 |
N/A |
INTRINSIC |
|
transmembrane domain
|
480 |
502 |
N/A |
INTRINSIC |
|
transmembrane domain
|
533 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
650 |
661 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
1113 |
1125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000122934
Gene: ENSMUSG00000020538
AA Change: E68G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
164 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
182 |
N/A |
INTRINSIC |
|
HLH
|
265 |
315 |
6.71e-16 |
SMART |
|
low complexity region
|
362 |
395 |
N/A |
INTRINSIC |
|
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
transmembrane domain
|
475 |
497 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
603 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1067 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144942
AA Change: E98G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000120777
Gene: ENSMUSG00000020538
AA Change: E98G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
61 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
156 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
193 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
211 |
N/A |
INTRINSIC |
|
HLH
|
299 |
349 |
6.71e-16 |
SMART |
|
low complexity region
|
396 |
429 |
N/A |
INTRINSIC |
|
transmembrane domain
|
456 |
478 |
N/A |
INTRINSIC |
|
transmembrane domain
|
509 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
655 |
668 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele of transcript A die between E11.5 and E14.5. Mice homozygous for a knock-out allele of transcript C exhibit decreased circulating triglyceride levels. Mice homozygous for a gene trap allele exhibit decreased hepatictriglyceride storage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,841 (GRCm39) |
Q271R |
probably benign |
Het |
| Abhd4 |
T |
A |
14: 54,500,164 (GRCm39) |
W63R |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,120,018 (GRCm39) |
M1176V |
probably null |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Brox |
G |
A |
1: 183,065,750 (GRCm39) |
P206L |
possibly damaging |
Het |
| Ccn3 |
A |
G |
15: 54,611,171 (GRCm39) |
D102G |
possibly damaging |
Het |
| Def6 |
A |
G |
17: 28,444,943 (GRCm39) |
K447R |
probably benign |
Het |
| Dna2 |
T |
C |
10: 62,799,773 (GRCm39) |
S726P |
probably damaging |
Het |
| Ell |
G |
A |
8: 71,031,879 (GRCm39) |
V15I |
probably damaging |
Het |
| Entrep2 |
T |
A |
7: 64,409,075 (GRCm39) |
T440S |
probably benign |
Het |
| Epha3 |
T |
A |
16: 63,593,698 (GRCm39) |
D130V |
probably benign |
Het |
| Gys1 |
A |
G |
7: 45,089,008 (GRCm39) |
T200A |
possibly damaging |
Het |
| Habp4 |
A |
T |
13: 64,309,939 (GRCm39) |
H47L |
probably benign |
Het |
| Iqcn |
G |
T |
8: 71,161,511 (GRCm39) |
V235L |
possibly damaging |
Het |
| Kcnj10 |
C |
A |
1: 172,196,563 (GRCm39) |
R26S |
probably benign |
Het |
| Klhl1 |
T |
A |
14: 96,755,632 (GRCm39) |
D41V |
probably benign |
Het |
| Lyn |
A |
G |
4: 3,782,996 (GRCm39) |
T410A |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,754,031 (GRCm39) |
T847A |
probably damaging |
Het |
| Mrgpra3 |
G |
T |
7: 47,239,290 (GRCm39) |
T212N |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,251 (GRCm39) |
F491L |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,801,562 (GRCm39) |
I1206N |
probably damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,621 (GRCm39) |
W618R |
possibly damaging |
Het |
| Pomc |
A |
G |
12: 4,010,146 (GRCm39) |
H129R |
probably damaging |
Het |
| Ppm1l |
C |
A |
3: 69,460,399 (GRCm39) |
H325Q |
probably benign |
Het |
| Psme4 |
A |
G |
11: 30,722,474 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
A |
G |
18: 34,978,342 (GRCm39) |
I74V |
probably null |
Het |
| Robo2 |
T |
G |
16: 73,745,225 (GRCm39) |
E850A |
probably damaging |
Het |
| Scrn2 |
T |
A |
11: 96,921,262 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
G |
A |
4: 126,923,675 (GRCm39) |
R673K |
probably benign |
Het |
| Sh2d3c |
T |
C |
2: 32,644,581 (GRCm39) |
*703R |
probably null |
Het |
| Spp1 |
A |
G |
5: 104,587,167 (GRCm39) |
M85V |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,582,851 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
A |
T |
17: 56,578,154 (GRCm39) |
S314T |
possibly damaging |
Het |
| Tie1 |
T |
C |
4: 118,341,823 (GRCm39) |
I209V |
possibly damaging |
Het |
| Vapa |
G |
A |
17: 65,889,586 (GRCm39) |
R194* |
probably null |
Het |
| Vcan |
C |
T |
13: 89,838,360 (GRCm39) |
D2395N |
probably damaging |
Het |
| Whamm |
A |
G |
7: 81,241,574 (GRCm39) |
H295R |
probably benign |
Het |
| Zdhhc14 |
A |
G |
17: 5,698,186 (GRCm39) |
Y85C |
probably damaging |
Het |
| Zfp35 |
T |
A |
18: 24,136,583 (GRCm39) |
F309Y |
probably damaging |
Het |
| Zfp423 |
C |
A |
8: 88,414,694 (GRCm39) |
C1187F |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,392 (GRCm39) |
Y302C |
probably damaging |
Het |
|
| Other mutations in Srebf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Srebf1
|
APN |
11 |
60,095,965 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00774:Srebf1
|
APN |
11 |
60,095,965 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01824:Srebf1
|
APN |
11 |
60,094,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02097:Srebf1
|
APN |
11 |
60,093,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02808:Srebf1
|
APN |
11 |
60,092,539 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL03036:Srebf1
|
APN |
11 |
60,111,284 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03055:Srebf1
|
UTSW |
11 |
60,097,902 (GRCm39) |
synonymous |
silent |
|
|
R0109:Srebf1
|
UTSW |
11 |
60,092,630 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0109:Srebf1
|
UTSW |
11 |
60,092,630 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0550:Srebf1
|
UTSW |
11 |
60,092,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0654:Srebf1
|
UTSW |
11 |
60,094,942 (GRCm39) |
missense |
probably benign |
|
|
R0707:Srebf1
|
UTSW |
11 |
60,094,942 (GRCm39) |
missense |
probably benign |
|
|
R1466:Srebf1
|
UTSW |
11 |
60,091,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1466:Srebf1
|
UTSW |
11 |
60,091,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1584:Srebf1
|
UTSW |
11 |
60,091,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1899:Srebf1
|
UTSW |
11 |
60,094,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Srebf1
|
UTSW |
11 |
60,094,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Srebf1
|
UTSW |
11 |
60,095,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Srebf1
|
UTSW |
11 |
60,097,328 (GRCm39) |
missense |
probably benign |
|
|
R2191:Srebf1
|
UTSW |
11 |
60,111,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Srebf1
|
UTSW |
11 |
60,097,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2268:Srebf1
|
UTSW |
11 |
60,097,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5511:Srebf1
|
UTSW |
11 |
60,101,184 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5841:Srebf1
|
UTSW |
11 |
60,094,410 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5870:Srebf1
|
UTSW |
11 |
60,094,410 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6003:Srebf1
|
UTSW |
11 |
60,097,930 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6371:Srebf1
|
UTSW |
11 |
60,094,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6376:Srebf1
|
UTSW |
11 |
60,094,361 (GRCm39) |
missense |
probably null |
0.19 |
|
R7009:Srebf1
|
UTSW |
11 |
60,091,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7410:Srebf1
|
UTSW |
11 |
60,096,693 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7569:Srebf1
|
UTSW |
11 |
60,090,947 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8317:Srebf1
|
UTSW |
11 |
60,091,483 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8370:Srebf1
|
UTSW |
11 |
60,093,022 (GRCm39) |
missense |
probably benign |
|
|
R8871:Srebf1
|
UTSW |
11 |
60,091,595 (GRCm39) |
missense |
probably benign |
|
|
R9433:Srebf1
|
UTSW |
11 |
60,095,015 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9582:Srebf1
|
UTSW |
11 |
60,097,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF009:Srebf1
|
UTSW |
11 |
60,094,942 (GRCm39) |
missense |
probably benign |
|
|
X0017:Srebf1
|
UTSW |
11 |
60,093,707 (GRCm39) |
missense |
probably damaging |
0.96 |
|
X0025:Srebf1
|
UTSW |
11 |
60,094,253 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Srebf1
|
UTSW |
11 |
60,097,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1186:Srebf1
|
UTSW |
11 |
60,097,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1187:Srebf1
|
UTSW |
11 |
60,097,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1188:Srebf1
|
UTSW |
11 |
60,097,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1189:Srebf1
|
UTSW |
11 |
60,097,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1190:Srebf1
|
UTSW |
11 |
60,097,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1191:Srebf1
|
UTSW |
11 |
60,097,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1192:Srebf1
|
UTSW |
11 |
60,097,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCTGTAAGAGCACAGCG -3'
(R):5'- ACCAAGACAGTGACTTCCCG -3'
Sequencing Primer
(F):5'- GTAAGAGCACAGCGGCCAC -3'
(R):5'- CCTATGCTGGGGGTGAGACAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation