Incidental Mutation 'R6030:Srebf2'
| ID |
486231 |
| 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 |
044202-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6030 (G1)
|
| Quality Score |
97.0078 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 82061477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023100]
[ENSMUST00000229336]
|
| AlphaFold |
Q3U1N2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023100
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
| 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 null
Transcript: ENSMUST00000229336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231065
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,133,021 (GRCm39) |
N1317D |
probably benign |
Het |
| Abhd8 |
T |
A |
8: 71,910,794 (GRCm39) |
Y338F |
possibly damaging |
Het |
| Actg2 |
G |
T |
6: 83,493,346 (GRCm39) |
N297K |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,558,156 (GRCm39) |
D148G |
probably damaging |
Het |
| Alox12 |
T |
C |
11: 70,145,417 (GRCm39) |
D52G |
possibly damaging |
Het |
| Ano5 |
T |
A |
7: 51,224,573 (GRCm39) |
S496T |
probably damaging |
Het |
| Arl6ip4 |
T |
C |
5: 124,255,968 (GRCm39) |
|
probably null |
Het |
| Atp4a |
G |
C |
7: 30,421,941 (GRCm39) |
E826Q |
probably damaging |
Het |
| Bbs7 |
T |
C |
3: 36,657,060 (GRCm39) |
D256G |
probably damaging |
Het |
| Bckdha |
T |
A |
7: 25,330,866 (GRCm39) |
D50V |
probably damaging |
Het |
| Cast |
A |
G |
13: 74,844,056 (GRCm39) |
S693P |
possibly damaging |
Het |
| Cfap251 |
C |
T |
5: 123,412,267 (GRCm39) |
T532M |
probably damaging |
Het |
| Col6a1 |
T |
C |
10: 76,545,700 (GRCm39) |
Y924C |
unknown |
Het |
| Crkl |
A |
G |
16: 17,270,604 (GRCm39) |
Y88C |
probably damaging |
Het |
| Cse1l |
T |
C |
2: 166,761,541 (GRCm39) |
F32L |
probably benign |
Het |
| Dmxl2 |
C |
T |
9: 54,300,957 (GRCm39) |
V2385I |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 30,989,984 (GRCm39) |
I3219F |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 117,916,375 (GRCm39) |
R4266H |
probably benign |
Het |
| Efcab5 |
A |
G |
11: 77,012,088 (GRCm39) |
L722P |
probably damaging |
Het |
| Emilin3 |
C |
A |
2: 160,751,105 (GRCm39) |
V215L |
probably benign |
Het |
| Entr1 |
T |
C |
2: 26,276,983 (GRCm39) |
D249G |
possibly damaging |
Het |
| Esr1 |
A |
T |
10: 4,696,622 (GRCm39) |
N157I |
possibly damaging |
Het |
| Esrrg |
A |
G |
1: 187,930,904 (GRCm39) |
M309V |
probably benign |
Het |
| Fam120b |
G |
A |
17: 15,622,172 (GRCm39) |
R50Q |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,201,129 (GRCm39) |
Y648* |
probably null |
Het |
| Gbp2b |
T |
A |
3: 142,309,414 (GRCm39) |
I175N |
probably benign |
Het |
| Gm1043 |
T |
A |
5: 37,311,952 (GRCm39) |
|
probably benign |
Het |
| Gm21060 |
A |
G |
19: 61,285,411 (GRCm39) |
C33R |
possibly damaging |
Het |
| Gpx6 |
C |
T |
13: 21,496,510 (GRCm39) |
S28L |
probably benign |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Ifi44 |
T |
C |
3: 151,455,195 (GRCm39) |
Q10R |
probably benign |
Het |
| Impa2 |
T |
C |
18: 67,451,498 (GRCm39) |
V264A |
probably benign |
Het |
| Khdc1a |
A |
T |
1: 21,421,108 (GRCm39) |
M98L |
probably benign |
Het |
| Lrrc45 |
T |
A |
11: 120,611,474 (GRCm39) |
L616* |
probably null |
Het |
| Mios |
A |
T |
6: 8,215,704 (GRCm39) |
H300L |
probably benign |
Het |
| Mllt6 |
A |
T |
11: 97,568,051 (GRCm39) |
T827S |
probably damaging |
Het |
| Mrc1 |
C |
A |
2: 14,321,712 (GRCm39) |
D1068E |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,346,168 (GRCm39) |
Y702C |
probably damaging |
Het |
| Nek11 |
T |
A |
9: 105,082,087 (GRCm39) |
|
probably null |
Het |
| Nek4 |
T |
C |
14: 30,678,890 (GRCm39) |
F138S |
probably damaging |
Het |
| Nfatc4 |
T |
A |
14: 56,069,897 (GRCm39) |
Y688* |
probably null |
Het |
| Nlrx1 |
C |
T |
9: 44,175,057 (GRCm39) |
V240M |
probably damaging |
Het |
| Npy6r |
A |
T |
18: 44,409,149 (GRCm39) |
Y190F |
probably benign |
Het |
| Or10ab5 |
A |
C |
7: 108,245,433 (GRCm39) |
S117A |
possibly damaging |
Het |
| Or10d4b |
T |
C |
9: 39,534,637 (GRCm39) |
F71L |
probably damaging |
Het |
| Or1j10 |
T |
G |
2: 36,267,556 (GRCm39) |
L256R |
probably damaging |
Het |
| Or52b4i |
C |
A |
7: 102,191,817 (GRCm39) |
R225S |
probably benign |
Het |
| Or5p52 |
A |
G |
7: 107,502,620 (GRCm39) |
E232G |
probably benign |
Het |
| Or6c68 |
A |
T |
10: 129,158,238 (GRCm39) |
T249S |
probably benign |
Het |
| Osbpl7 |
A |
C |
11: 96,943,087 (GRCm39) |
H113P |
probably benign |
Het |
| Pam16l |
C |
T |
10: 43,400,252 (GRCm39) |
A30V |
probably benign |
Het |
| Pck1 |
A |
G |
2: 172,996,650 (GRCm39) |
E188G |
probably benign |
Het |
| Pimreg |
A |
G |
11: 71,936,576 (GRCm39) |
D213G |
probably benign |
Het |
| Pkd1l2 |
A |
G |
8: 117,769,976 (GRCm39) |
I1160T |
probably damaging |
Het |
| Ppargc1b |
G |
A |
18: 61,441,005 (GRCm39) |
Q622* |
probably null |
Het |
| Ppfia2 |
T |
A |
10: 106,742,338 (GRCm39) |
C1044S |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,024,659 (GRCm39) |
V280A |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,068,245 (GRCm39) |
N1764D |
probably benign |
Het |
| Pygm |
C |
T |
19: 6,438,842 (GRCm39) |
R311C |
possibly damaging |
Het |
| Rab7b |
A |
G |
1: 131,626,299 (GRCm39) |
K109R |
probably damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Setbp1 |
T |
G |
18: 78,900,926 (GRCm39) |
I914L |
probably benign |
Het |
| Shprh |
A |
C |
10: 11,027,735 (GRCm39) |
Q114P |
probably benign |
Het |
| Slc5a9 |
T |
C |
4: 111,742,725 (GRCm39) |
I456V |
possibly damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,657,985 (GRCm39) |
|
probably null |
Het |
| Spin1 |
T |
A |
13: 51,293,552 (GRCm39) |
Y87* |
probably null |
Het |
| Spring1 |
T |
C |
5: 118,393,798 (GRCm39) |
W59R |
probably damaging |
Het |
| Sufu |
T |
C |
19: 46,463,978 (GRCm39) |
Y397H |
probably damaging |
Het |
| Tgfb3 |
A |
C |
12: 86,110,624 (GRCm39) |
V242G |
probably benign |
Het |
| Tgm3 |
A |
T |
2: 129,883,920 (GRCm39) |
Y526F |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,482,967 (GRCm39) |
L508P |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,063,799 (GRCm39) |
D454G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,646,943 (GRCm39) |
E3280G |
possibly damaging |
Het |
| Tusc3 |
G |
C |
8: 39,538,560 (GRCm39) |
G200R |
probably damaging |
Het |
| Umps |
A |
G |
16: 33,782,508 (GRCm39) |
V138A |
probably benign |
Het |
| Ypel1 |
A |
G |
16: 16,902,377 (GRCm39) |
|
probably null |
Het |
| Zdhhc19 |
T |
A |
16: 32,317,860 (GRCm39) |
L63Q |
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 |
|
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 |
|
|
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'- TTAGGGCGAGCTCTGTGTCC -3'
(R):5'- TCACTGTCCACCAGACTGC -3'
Sequencing Primer
(F):5'- AGCTCTGTGTCCACCAGC -3'
(R):5'- AGACTGCCCAGGTCGATG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation