Incidental Mutation 'R8138:Srebf2'
| ID |
632375 |
| 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 |
067566-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8138 (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: 98.9%
- 20x: 96.5%
|
| Validation Efficiency |
98% (52/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
G |
16: 8,418,829 (GRCm39) |
D141G |
probably benign |
Het |
| Abcc1 |
A |
G |
16: 14,290,751 (GRCm39) |
T1454A |
probably damaging |
Het |
| Acan |
C |
A |
7: 78,748,175 (GRCm39) |
T982N |
probably benign |
Het |
| Adam5 |
A |
G |
8: 25,271,778 (GRCm39) |
L543P |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,351,979 (GRCm39) |
|
probably null |
Het |
| Akirin1 |
G |
A |
4: 123,637,238 (GRCm39) |
P116S |
probably benign |
Het |
| Bzw2 |
T |
C |
12: 36,159,819 (GRCm39) |
D236G |
probably benign |
Het |
| C1qtnf2 |
G |
A |
11: 43,376,838 (GRCm39) |
G70D |
probably damaging |
Het |
| Cd44 |
A |
G |
2: 102,662,842 (GRCm39) |
I566T |
probably benign |
Het |
| Cltb |
C |
T |
13: 54,746,596 (GRCm39) |
D135N |
possibly damaging |
Het |
| Cpeb2 |
T |
C |
5: 43,392,352 (GRCm39) |
V516A |
|
Het |
| Cx3cr1 |
A |
T |
9: 119,880,649 (GRCm39) |
M251K |
possibly damaging |
Het |
| Ect2l |
A |
T |
10: 18,045,153 (GRCm39) |
S301T |
probably damaging |
Het |
| Fgd6 |
A |
G |
10: 93,970,005 (GRCm39) |
K1218R |
probably null |
Het |
| Fsip2 |
T |
C |
2: 82,806,141 (GRCm39) |
V820A |
possibly damaging |
Het |
| Gnas |
A |
G |
2: 174,140,179 (GRCm39) |
E116G |
probably benign |
Het |
| Greb1l |
T |
C |
18: 10,533,060 (GRCm39) |
Y985H |
probably benign |
Het |
| Gtpbp3 |
T |
C |
8: 71,945,242 (GRCm39) |
L438P |
probably damaging |
Het |
| Habp4 |
A |
G |
13: 64,323,884 (GRCm39) |
D269G |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,920,125 (GRCm39) |
S1405T |
probably benign |
Het |
| Il17rc |
A |
G |
6: 113,459,500 (GRCm39) |
D482G |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,741,534 (GRCm39) |
I4542T |
unknown |
Het |
| Lag3 |
A |
G |
6: 124,882,455 (GRCm39) |
V347A |
probably damaging |
Het |
| Lmtk2 |
C |
T |
5: 144,112,415 (GRCm39) |
S1045L |
probably damaging |
Het |
| Mblac2 |
A |
G |
13: 81,859,769 (GRCm39) |
D41G |
probably damaging |
Het |
| Mfsd6 |
C |
T |
1: 52,748,671 (GRCm39) |
V65I |
probably benign |
Het |
| Neb |
A |
G |
2: 52,065,707 (GRCm39) |
V6175A |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,089,672 (GRCm39) |
S1248P |
|
Het |
| Nlrp4b |
A |
T |
7: 10,449,458 (GRCm39) |
M554L |
probably benign |
Het |
| Or51ab3 |
T |
A |
7: 103,201,266 (GRCm39) |
H91Q |
probably benign |
Het |
| Or5an11 |
G |
A |
19: 12,246,436 (GRCm39) |
V281M |
possibly damaging |
Het |
| Or5p59 |
A |
T |
7: 107,702,764 (GRCm39) |
S83C |
possibly damaging |
Het |
| Or8k53 |
T |
C |
2: 86,177,930 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,546,234 (GRCm39) |
S861R |
possibly damaging |
Het |
| Ppp1r16a |
T |
C |
15: 76,575,921 (GRCm39) |
V95A |
probably damaging |
Het |
| Prss40 |
T |
C |
1: 34,597,080 (GRCm39) |
Q156R |
probably damaging |
Het |
| Rhbdd3 |
CACCATGGCTGCTACCATGGCTGCT |
CACCATGGCTGCT |
11: 5,054,303 (GRCm39) |
|
probably benign |
Het |
| Rnf170 |
T |
C |
8: 26,616,009 (GRCm39) |
|
probably null |
Het |
| Smlr1 |
A |
G |
10: 25,411,939 (GRCm39) |
V16A |
probably benign |
Het |
| Sowahb |
A |
G |
5: 93,191,342 (GRCm39) |
L459P |
probably benign |
Het |
| Tpo |
T |
C |
12: 30,124,103 (GRCm39) |
D899G |
probably benign |
Het |
| Traj7 |
C |
T |
14: 54,448,982 (GRCm39) |
P19S |
|
Het |
| Trit1 |
G |
A |
4: 122,937,582 (GRCm39) |
W131* |
probably null |
Het |
| Vcpip1 |
GGGAGGCGGCGGCGGCGGCAGCGGAGGAGGCGGCGGCGGC |
GGGAGGAGGCGGCGGCGGC |
1: 9,818,334 (GRCm39) |
|
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,934,391 (GRCm39) |
*298W |
probably null |
Het |
| Vmn2r124 |
T |
A |
17: 18,283,610 (GRCm39) |
W435R |
probably damaging |
Het |
| Zbtb41 |
C |
T |
1: 139,369,545 (GRCm39) |
R641C |
probably damaging |
Het |
| Zfp84 |
T |
A |
7: 29,474,797 (GRCm39) |
F23Y |
probably damaging |
Het |
| Zfp879 |
G |
T |
11: 50,724,275 (GRCm39) |
Y260* |
probably null |
Het |
| Zswim9 |
A |
T |
7: 12,995,337 (GRCm39) |
F273Y |
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 |
|
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'- CTCCAGAAACATGTGGTTCGTTAG -3'
(R):5'- AACCCAAGCCAGCATTAGGG -3'
Sequencing Primer
(F):5'- TAGAATGAACTCTGTCGGCC -3'
(R):5'- GGGACCCACCTACCTGACTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation