Incidental Mutation 'IGL02423:Srebf2'
| ID |
292788 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Srebf2
|
| Ensembl Gene |
ENSMUSG00000022463 |
| Gene Name |
sterol regulatory element binding factor 2 |
| Synonyms |
SREBP-2, bHLHd2, nuc, SREBP2, lop13, SREBP2gc |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02423
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82059298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 239
(T239A)
|
| 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: T279A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: T279A
| 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 benign
Transcript: ENSMUST00000229009
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229336
AA Change: T239A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231065
|
| Coding Region Coverage |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,109,832 (GRCm39) |
|
probably benign |
Het |
| Adarb2 |
A |
T |
13: 8,619,756 (GRCm39) |
R81W |
probably damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,983,467 (GRCm39) |
I72V |
probably benign |
Het |
| Banp |
A |
G |
8: 122,733,830 (GRCm39) |
I360V |
probably benign |
Het |
| Bmp8a |
C |
A |
4: 123,210,220 (GRCm39) |
G289C |
possibly damaging |
Het |
| Car3 |
A |
T |
3: 14,931,911 (GRCm39) |
H94L |
probably damaging |
Het |
| Ccdc137 |
G |
A |
11: 120,350,927 (GRCm39) |
R108H |
possibly damaging |
Het |
| Cdk14 |
T |
C |
5: 4,938,905 (GRCm39) |
N411S |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,483,800 (GRCm39) |
M907V |
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,725,923 (GRCm39) |
W19R |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,301,032 (GRCm39) |
S2360P |
possibly damaging |
Het |
| Eif2d |
T |
G |
1: 131,081,097 (GRCm39) |
|
probably benign |
Het |
| Epx |
A |
G |
11: 87,762,144 (GRCm39) |
I369T |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,789,378 (GRCm39) |
E648G |
probably benign |
Het |
| Fer1l4 |
G |
A |
2: 155,894,827 (GRCm39) |
P14L |
probably benign |
Het |
| Folr1 |
A |
G |
7: 101,507,732 (GRCm39) |
F236S |
probably benign |
Het |
| Foxj2 |
T |
G |
6: 122,819,732 (GRCm39) |
M540R |
possibly damaging |
Het |
| Gtf2h1 |
A |
G |
7: 46,464,824 (GRCm39) |
T420A |
probably benign |
Het |
| H2-T3 |
T |
A |
17: 36,498,248 (GRCm39) |
T222S |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,740,718 (GRCm39) |
M2163K |
probably damaging |
Het |
| Inppl1 |
A |
G |
7: 101,481,450 (GRCm39) |
V244A |
probably benign |
Het |
| Kansl3 |
A |
T |
1: 36,391,050 (GRCm39) |
V373D |
probably damaging |
Het |
| Kdm3a |
A |
G |
6: 71,590,987 (GRCm39) |
|
probably benign |
Het |
| Krtap1-3 |
A |
T |
11: 99,481,680 (GRCm39) |
C156S |
unknown |
Het |
| Mab21l3 |
T |
C |
3: 101,726,045 (GRCm39) |
D317G |
probably damaging |
Het |
| Nherf1 |
A |
G |
11: 115,054,539 (GRCm39) |
|
probably null |
Het |
| Nox3 |
T |
C |
17: 3,733,191 (GRCm39) |
H240R |
probably damaging |
Het |
| Nxn |
A |
T |
11: 76,164,858 (GRCm39) |
S218T |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,894,630 (GRCm39) |
I271K |
probably benign |
Het |
| Or6c35 |
G |
A |
10: 129,169,397 (GRCm39) |
V216I |
probably benign |
Het |
| Pcdhb13 |
T |
C |
18: 37,577,392 (GRCm39) |
V590A |
possibly damaging |
Het |
| Pim3 |
T |
C |
15: 88,747,734 (GRCm39) |
V200A |
probably benign |
Het |
| Plekha3 |
T |
C |
2: 76,510,524 (GRCm39) |
F20L |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,118 (GRCm39) |
R120S |
possibly damaging |
Het |
| Ppp1r9a |
A |
C |
6: 4,906,537 (GRCm39) |
D364A |
probably benign |
Het |
| Psd |
A |
G |
19: 46,302,943 (GRCm39) |
F155L |
possibly damaging |
Het |
| Rbm22 |
T |
C |
18: 60,704,891 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,760,084 (GRCm39) |
F1556I |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,207,685 (GRCm39) |
A465T |
probably benign |
Het |
| Sdf2 |
A |
G |
11: 78,141,844 (GRCm39) |
S60G |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,615,776 (GRCm39) |
I400T |
probably damaging |
Het |
| Ski |
T |
C |
4: 155,244,191 (GRCm39) |
D478G |
probably damaging |
Het |
| Slc12a7 |
A |
T |
13: 73,911,882 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,211,322 (GRCm39) |
T1074A |
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,928,419 (GRCm39) |
H84Y |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,318,295 (GRCm39) |
Q444K |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,140,305 (GRCm39) |
I817F |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,082,077 (GRCm39) |
Q1159K |
possibly damaging |
Het |
| Tmem39b |
G |
A |
4: 129,572,442 (GRCm39) |
H387Y |
probably damaging |
Het |
| Tpp1 |
T |
C |
7: 105,398,907 (GRCm39) |
H174R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,535,617 (GRCm39) |
V35134I |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,304,900 (GRCm39) |
I378V |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,889,968 (GRCm39) |
E42G |
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 63,997,665 (GRCm39) |
H440Q |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zcchc7 |
T |
A |
4: 44,931,244 (GRCm39) |
D144E |
possibly damaging |
Het |
| Zic4 |
C |
A |
9: 91,266,228 (GRCm39) |
H284N |
probably damaging |
Het |
| Zkscan6 |
A |
G |
11: 65,719,120 (GRCm39) |
H380R |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation