Incidental Mutation 'R4670:Srebf2'
ID |
348386 |
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 |
041926-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4670 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82076503 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 718
(F718L)
|
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: F758L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023100 Gene: ENSMUSG00000022463 AA Change: F758L
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: F718L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229390
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230955
|
Meta Mutation Damage Score |
0.9104 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (69/71) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm5 |
T |
A |
7: 119,130,983 (GRCm39) |
|
probably null |
Het |
Alb |
T |
A |
5: 90,610,665 (GRCm39) |
S82T |
probably benign |
Het |
Arf4 |
A |
G |
14: 26,374,248 (GRCm39) |
|
probably benign |
Het |
Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
Arhgap32 |
A |
G |
9: 32,081,441 (GRCm39) |
E153G |
probably benign |
Het |
Arhgef18 |
T |
A |
8: 3,484,897 (GRCm39) |
M200K |
probably damaging |
Het |
Atp1a4 |
T |
A |
1: 172,062,567 (GRCm39) |
N647Y |
probably benign |
Het |
Atp5f1c |
A |
T |
2: 10,064,428 (GRCm39) |
L226Q |
probably damaging |
Het |
Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
Cadm3 |
T |
A |
1: 173,174,013 (GRCm39) |
T67S |
probably damaging |
Het |
Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
Chst7 |
C |
A |
X: 19,927,110 (GRCm39) |
R386S |
probably damaging |
Het |
Cyp4f37 |
A |
T |
17: 32,844,126 (GRCm39) |
M77L |
probably benign |
Het |
Dnah7b |
A |
T |
1: 46,117,684 (GRCm39) |
D50V |
probably damaging |
Het |
Galnt4 |
A |
G |
10: 98,945,160 (GRCm39) |
D295G |
possibly damaging |
Het |
Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
Gm6471 |
G |
A |
7: 142,385,360 (GRCm39) |
|
noncoding transcript |
Het |
Gm6818 |
T |
A |
7: 38,101,981 (GRCm39) |
|
noncoding transcript |
Het |
Gm9271 |
T |
A |
7: 39,013,734 (GRCm39) |
|
noncoding transcript |
Het |
Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
Ift140 |
C |
A |
17: 25,317,935 (GRCm39) |
|
probably benign |
Het |
Itih5 |
A |
C |
2: 10,195,180 (GRCm39) |
I191L |
probably benign |
Het |
Jcad |
A |
G |
18: 4,674,175 (GRCm39) |
T646A |
probably benign |
Het |
Kank1 |
T |
C |
19: 25,387,944 (GRCm39) |
M511T |
probably benign |
Het |
Krt74 |
A |
T |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc37a |
A |
G |
11: 103,395,363 (GRCm39) |
S21P |
probably benign |
Het |
Lrrc8c |
G |
A |
5: 105,756,240 (GRCm39) |
V672I |
probably benign |
Het |
Lypd4 |
T |
C |
7: 24,566,151 (GRCm39) |
R58G |
probably benign |
Het |
Magi1 |
A |
T |
6: 93,663,624 (GRCm39) |
|
probably null |
Het |
Mefv |
T |
A |
16: 3,526,071 (GRCm39) |
L745F |
possibly damaging |
Het |
Myh13 |
A |
T |
11: 67,255,564 (GRCm39) |
K1645* |
probably null |
Het |
Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
Nlrp1c-ps |
T |
C |
11: 71,171,382 (GRCm39) |
|
noncoding transcript |
Het |
Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
Or51aa2 |
A |
G |
7: 103,188,393 (GRCm39) |
V16A |
possibly damaging |
Het |
Or6k6 |
T |
A |
1: 173,945,427 (GRCm39) |
M52L |
probably benign |
Het |
Or8k37 |
T |
C |
2: 86,469,512 (GRCm39) |
D180G |
possibly damaging |
Het |
P2ry12 |
T |
C |
3: 59,125,325 (GRCm39) |
|
probably null |
Het |
Pcx |
T |
A |
19: 4,669,916 (GRCm39) |
V861E |
probably damaging |
Het |
Pkp3 |
C |
T |
7: 140,662,612 (GRCm39) |
P75S |
probably benign |
Het |
Plscr4 |
T |
C |
9: 92,364,920 (GRCm39) |
|
probably null |
Het |
Pole |
A |
G |
5: 110,454,253 (GRCm39) |
T923A |
probably benign |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Rhot2 |
A |
C |
17: 26,060,305 (GRCm39) |
|
probably benign |
Het |
Rsrp1 |
A |
G |
4: 134,651,488 (GRCm39) |
Y84C |
unknown |
Het |
Sbf2 |
T |
C |
7: 109,934,606 (GRCm39) |
K1348E |
probably damaging |
Het |
Sgip1 |
A |
T |
4: 102,726,951 (GRCm39) |
N53Y |
probably damaging |
Het |
Snapc2 |
A |
G |
8: 4,304,998 (GRCm39) |
T127A |
possibly damaging |
Het |
Snx8 |
A |
G |
5: 140,341,713 (GRCm39) |
|
probably null |
Het |
Spag8 |
A |
G |
4: 43,653,378 (GRCm39) |
|
probably benign |
Het |
Szt2 |
C |
G |
4: 118,233,026 (GRCm39) |
|
probably benign |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,004,146 (GRCm39) |
Y62* |
probably null |
Het |
Usp29 |
T |
A |
7: 6,965,914 (GRCm39) |
S586T |
possibly damaging |
Het |
Vasp |
T |
C |
7: 18,998,350 (GRCm39) |
N108S |
probably benign |
Het |
Vmn1r214 |
A |
G |
13: 23,219,141 (GRCm39) |
M212V |
probably benign |
Het |
Wipi2 |
G |
C |
5: 142,645,345 (GRCm39) |
A194P |
probably benign |
Het |
Zbtb4 |
T |
A |
11: 69,667,355 (GRCm39) |
I220N |
probably damaging |
Het |
Zcchc2 |
A |
T |
1: 105,917,996 (GRCm39) |
|
probably benign |
Het |
Zfp729a |
T |
A |
13: 67,769,534 (GRCm39) |
K232* |
probably null |
Het |
Zfp995 |
A |
T |
17: 22,106,320 (GRCm39) |
M1K |
probably null |
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 |
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'- CAGGGCCTGTCTTCCATTGATC -3'
(R):5'- CGAGCTAAGTCACAGATAGGC -3'
Sequencing Primer
(F):5'- ATTGATCCCCTTCCCCATCG -3'
(R):5'- TCTGTGCAGTGGAGAAAG -3'
|
Posted On |
2015-10-08 |