Incidental Mutation 'R5662:Srebf2'
| ID |
444164 |
| 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 |
043305-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5662 (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 C
at 82079204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 811
(S811P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023100]
[ENSMUST00000229336]
|
| AlphaFold |
Q3U1N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023100
AA Change: S851P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: S851P
| 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 |
noncoding transcript
Transcript: ENSMUST00000083531
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229336
AA Change: S811P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230955
AA Change: S11P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 78,749,855 (GRCm39) |
V1542D |
possibly damaging |
Het |
| Acsm4 |
T |
G |
7: 119,294,023 (GRCm39) |
N131K |
possibly damaging |
Het |
| Ankrd54 |
A |
G |
15: 78,946,814 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ccdc186 |
A |
G |
19: 56,781,920 (GRCm39) |
I753T |
probably benign |
Het |
| Cers2 |
C |
T |
3: 95,228,295 (GRCm39) |
R112C |
probably damaging |
Het |
| Col6a4 |
C |
G |
9: 105,945,200 (GRCm39) |
R971S |
probably damaging |
Het |
| Ctsf |
T |
C |
19: 4,906,606 (GRCm39) |
S178P |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,713,525 (GRCm39) |
T492I |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,657,584 (GRCm39) |
K1212E |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,956,307 (GRCm39) |
T2096A |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,370,457 (GRCm39) |
I886F |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,126,622 (GRCm39) |
N519K |
possibly damaging |
Het |
| Fam3c |
T |
C |
6: 22,355,061 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
G |
A |
5: 131,114,844 (GRCm39) |
R219C |
probably damaging |
Het |
| Gm10645 |
A |
G |
8: 83,892,486 (GRCm39) |
|
probably benign |
Het |
| Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
| Hydin |
T |
G |
8: 111,307,341 (GRCm39) |
S3907A |
probably benign |
Het |
| Ighv1-49 |
A |
T |
12: 115,019,027 (GRCm39) |
V56E |
probably damaging |
Het |
| Igtp |
A |
G |
11: 58,097,105 (GRCm39) |
D92G |
probably damaging |
Het |
| Itga1 |
C |
T |
13: 115,122,707 (GRCm39) |
V750I |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,441,875 (GRCm39) |
R595G |
probably benign |
Het |
| Kif3c |
T |
A |
12: 3,417,031 (GRCm39) |
Y351N |
probably damaging |
Het |
| Klhdc1 |
T |
A |
12: 69,329,939 (GRCm39) |
I356N |
probably benign |
Het |
| Lrrc34 |
T |
C |
3: 30,685,473 (GRCm39) |
Y292C |
probably benign |
Het |
| Ly75 |
G |
A |
2: 60,182,725 (GRCm39) |
T526M |
probably damaging |
Het |
| Mroh4 |
A |
T |
15: 74,497,277 (GRCm39) |
D181E |
possibly damaging |
Het |
| Nutm1 |
T |
C |
2: 112,079,645 (GRCm39) |
N757D |
probably benign |
Het |
| Or1e25 |
T |
C |
11: 73,494,005 (GRCm39) |
F200L |
probably benign |
Het |
| Or1m1 |
A |
G |
9: 18,666,896 (GRCm39) |
F12L |
probably damaging |
Het |
| Or6c215 |
T |
C |
10: 129,638,176 (GRCm39) |
T73A |
possibly damaging |
Het |
| Or9s18 |
T |
C |
13: 65,300,067 (GRCm39) |
F10L |
possibly damaging |
Het |
| Paxbp1 |
G |
A |
16: 90,834,285 (GRCm39) |
T167M |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,942,396 (GRCm39) |
D1238G |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,358 (GRCm39) |
S210P |
probably benign |
Het |
| Ripor3 |
T |
G |
2: 167,835,476 (GRCm39) |
N165T |
probably benign |
Het |
| Serpine3 |
T |
G |
14: 62,908,291 (GRCm39) |
S106R |
probably benign |
Het |
| Slc25a11 |
G |
A |
11: 70,536,245 (GRCm39) |
R158* |
probably null |
Het |
| Slc26a6 |
G |
A |
9: 108,736,538 (GRCm39) |
V506M |
possibly damaging |
Het |
| Slc45a2 |
A |
G |
15: 11,022,169 (GRCm39) |
K304E |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,176,103 (GRCm39) |
L25F |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,740,404 (GRCm39) |
N267S |
possibly damaging |
Het |
| Spink6 |
C |
A |
18: 44,207,481 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Ssc4d |
A |
G |
5: 135,989,748 (GRCm39) |
*587R |
probably null |
Het |
| Sult2a8 |
C |
T |
7: 14,161,765 (GRCm39) |
R27H |
probably benign |
Het |
| Sun2 |
C |
T |
15: 79,623,069 (GRCm39) |
A90T |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,734,526 (GRCm39) |
S267P |
probably benign |
Het |
| Wdr55 |
G |
A |
18: 36,893,448 (GRCm39) |
V37M |
possibly damaging |
Het |
| Xdh |
C |
T |
17: 74,248,110 (GRCm39) |
G45S |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,920,111 (GRCm39) |
S570T |
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 |
|
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'- TTGGATCTCTAAGCAGCCAAGC -3'
(R):5'- AATGACCCACTTGCTGTTCC -3'
Sequencing Primer
(F):5'- AGCAGCCAAGCTTATAGGTG -3'
(R):5'- TGCTGTTCCATTATACAAGGACC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation