Incidental Mutation 'R5867:Srebf2'
| ID |
454243 |
| 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 |
043233-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5867 (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 82053987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 46
(F46Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023100]
[ENSMUST00000229009]
[ENSMUST00000229336]
|
| AlphaFold |
Q3U1N2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023100
AA Change: F46Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: F46Y
| 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: ENSMUST00000229009
AA Change: F16Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229336
AA Change: F46Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231065
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,987,416 (GRCm39) |
V2900A |
probably damaging |
Het |
| Akip1 |
A |
G |
7: 109,306,684 (GRCm39) |
H127R |
probably benign |
Het |
| Alad |
A |
T |
4: 62,431,203 (GRCm39) |
Y56N |
probably damaging |
Het |
| Aldoart1 |
T |
A |
4: 72,770,770 (GRCm39) |
M13L |
probably benign |
Het |
| Ap1g1 |
C |
T |
8: 110,545,614 (GRCm39) |
A89V |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Cd209b |
T |
C |
8: 3,974,246 (GRCm39) |
I89V |
possibly damaging |
Het |
| Cd36 |
T |
C |
5: 17,990,733 (GRCm39) |
K469R |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,976,581 (GRCm39) |
I82N |
probably damaging |
Het |
| Clmn |
G |
T |
12: 104,748,014 (GRCm39) |
P511H |
probably damaging |
Het |
| Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
| Cyp2a5 |
T |
C |
7: 26,542,383 (GRCm39) |
F462L |
probably benign |
Het |
| Dclk2 |
A |
G |
3: 86,699,166 (GRCm39) |
*709Q |
probably null |
Het |
| Drd1 |
T |
C |
13: 54,208,182 (GRCm39) |
T4A |
probably benign |
Het |
| Ephb2 |
C |
T |
4: 136,402,733 (GRCm39) |
V513I |
possibly damaging |
Het |
| Fam43a |
T |
A |
16: 30,420,277 (GRCm39) |
V287E |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,844,450 (GRCm39) |
E602G |
probably benign |
Het |
| Gtsf2 |
C |
T |
15: 103,348,063 (GRCm39) |
G149E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,801,570 (GRCm39) |
T62A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,348,954 (GRCm39) |
I662N |
possibly damaging |
Het |
| Lmod3 |
A |
G |
6: 97,224,963 (GRCm39) |
V286A |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,533,797 (GRCm39) |
D158G |
probably damaging |
Het |
| Mff |
T |
C |
1: 82,728,327 (GRCm39) |
|
probably null |
Het |
| Mfsd6l |
G |
T |
11: 68,448,036 (GRCm39) |
V296L |
possibly damaging |
Het |
| Neu2 |
G |
T |
1: 87,524,478 (GRCm39) |
Q154H |
probably damaging |
Het |
| Or5m3b |
A |
G |
2: 85,871,795 (GRCm39) |
I45M |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,487,452 (GRCm39) |
H266L |
probably benign |
Het |
| Pdrg1 |
T |
C |
2: 152,855,975 (GRCm39) |
N40D |
probably damaging |
Het |
| Pi4k2a |
T |
C |
19: 42,093,924 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
T |
A |
8: 117,781,750 (GRCm39) |
D765V |
probably damaging |
Het |
| Pspc1 |
A |
T |
14: 56,999,498 (GRCm39) |
|
probably null |
Het |
| Ptprm |
T |
C |
17: 67,352,976 (GRCm39) |
|
probably null |
Het |
| Spata31d1d |
T |
C |
13: 59,875,054 (GRCm39) |
K827R |
possibly damaging |
Het |
| Tfrc |
T |
A |
16: 32,439,230 (GRCm39) |
C365S |
possibly damaging |
Het |
| Ttc7 |
A |
G |
17: 87,629,900 (GRCm39) |
H294R |
possibly damaging |
Het |
| Ubr7 |
T |
A |
12: 102,727,753 (GRCm39) |
Y92N |
probably damaging |
Het |
| Vmn1r42 |
A |
C |
6: 89,821,761 (GRCm39) |
Y269* |
probably null |
Het |
| Vmn2r1 |
A |
G |
3: 64,011,990 (GRCm39) |
E617G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,889,904 (GRCm39) |
|
probably null |
Het |
| Vps50 |
T |
C |
6: 3,536,965 (GRCm39) |
L312P |
probably damaging |
Het |
| Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
| Zcchc3 |
A |
G |
2: 152,256,444 (GRCm39) |
F85S |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,520,078 (GRCm39) |
L400P |
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 |
|
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'- AAGATGCCTGTGTTCCTTGGTC -3'
(R):5'- GAGAGACTTTGACCTGCAGG -3'
Sequencing Primer
(F):5'- GTTTTAAGTACCAGGTCAACCCAGTC -3'
(R):5'- TTTGACCTGCAGGGCCGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation