Incidental Mutation 'R5398:Srebf2'
ID |
429817 |
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 |
042969-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5398 (G1)
|
Quality Score |
190 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82055443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 176
(T176A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155022
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023100]
[ENSMUST00000229009]
[ENSMUST00000229336]
|
AlphaFold |
Q3U1N2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023100
AA Change: T216A
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000023100 Gene: ENSMUSG00000022463 AA Change: T216A
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: ENSMUST00000229009
AA Change: T186A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229336
AA Change: T176A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229518
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230105
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231065
|
Meta Mutation Damage Score |
0.0779 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
95% (59/62) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
G |
8: 25,362,595 (GRCm39) |
L34P |
possibly damaging |
Het |
Adam34 |
A |
C |
8: 44,104,278 (GRCm39) |
C456G |
probably damaging |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Atp8b3 |
T |
C |
10: 80,365,533 (GRCm39) |
D407G |
probably damaging |
Het |
Btbd19 |
G |
A |
4: 116,980,957 (GRCm39) |
A104V |
probably damaging |
Het |
Chac1 |
T |
G |
2: 119,183,725 (GRCm39) |
L109R |
possibly damaging |
Het |
Csf2rb |
A |
G |
15: 78,232,820 (GRCm39) |
D709G |
probably benign |
Het |
Ddx42 |
T |
A |
11: 106,115,724 (GRCm39) |
D112E |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,293,872 (GRCm39) |
K1326E |
probably benign |
Het |
Dnajc3 |
T |
A |
14: 119,209,799 (GRCm39) |
Y291* |
probably null |
Het |
Dsg2 |
T |
C |
18: 20,712,190 (GRCm39) |
F109L |
probably benign |
Het |
Egfl8 |
T |
C |
17: 34,833,613 (GRCm39) |
|
probably benign |
Het |
Emb |
T |
A |
13: 117,404,088 (GRCm39) |
I280N |
probably damaging |
Het |
Gcc2 |
C |
A |
10: 58,105,329 (GRCm39) |
N188K |
probably benign |
Het |
Gdpd4 |
A |
T |
7: 97,621,185 (GRCm39) |
H166L |
probably benign |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
Itga11 |
A |
G |
9: 62,653,205 (GRCm39) |
T360A |
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,195,322 (GRCm39) |
S434P |
possibly damaging |
Het |
Kdm5b |
G |
A |
1: 134,549,836 (GRCm39) |
|
probably null |
Het |
Kif24 |
T |
C |
4: 41,394,401 (GRCm39) |
E824G |
possibly damaging |
Het |
Lekr1 |
T |
A |
3: 65,688,807 (GRCm39) |
|
noncoding transcript |
Het |
Ociad1 |
T |
A |
5: 73,467,755 (GRCm39) |
V231E |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or1l4 |
C |
A |
2: 37,091,330 (GRCm39) |
Q26K |
probably benign |
Het |
Pcdhb1 |
T |
C |
18: 37,399,207 (GRCm39) |
L386P |
probably damaging |
Het |
Pcdhb21 |
G |
T |
18: 37,648,772 (GRCm39) |
V634L |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,614,687 (GRCm39) |
K255E |
possibly damaging |
Het |
Pex5l |
T |
A |
3: 33,006,639 (GRCm39) |
I577F |
probably damaging |
Het |
Ppl |
A |
G |
16: 4,922,786 (GRCm39) |
M235T |
probably benign |
Het |
Prl7d1 |
T |
A |
13: 27,894,057 (GRCm39) |
I171F |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,769,512 (GRCm39) |
Y451C |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,424,998 (GRCm39) |
Y453N |
probably damaging |
Het |
Rgs16 |
C |
T |
1: 153,616,246 (GRCm39) |
T11I |
probably benign |
Het |
Rragb |
G |
A |
X: 151,923,550 (GRCm39) |
G24E |
probably damaging |
Het |
Scn9a |
T |
C |
2: 66,318,387 (GRCm39) |
Y1479C |
probably damaging |
Het |
Slc35f4 |
T |
C |
14: 49,536,304 (GRCm39) |
T294A |
probably damaging |
Het |
Slc39a6 |
A |
T |
18: 24,730,936 (GRCm39) |
I61N |
probably damaging |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
Spink12 |
A |
G |
18: 44,240,794 (GRCm39) |
D60G |
possibly damaging |
Het |
Sppl2a |
T |
C |
2: 126,761,638 (GRCm39) |
I289V |
probably benign |
Het |
Syce1l |
T |
C |
8: 114,379,145 (GRCm39) |
L91S |
probably damaging |
Het |
Tchhl1 |
T |
C |
3: 93,378,910 (GRCm39) |
I538T |
probably benign |
Het |
Tcte1 |
C |
T |
17: 45,850,752 (GRCm39) |
Q343* |
probably null |
Het |
Tdpoz2 |
T |
G |
3: 93,559,441 (GRCm39) |
D177A |
probably damaging |
Het |
Thada |
T |
G |
17: 84,733,614 (GRCm39) |
D1011A |
probably benign |
Het |
Tnn |
T |
A |
1: 159,975,092 (GRCm39) |
M112L |
probably benign |
Het |
Traf1 |
T |
C |
2: 34,835,447 (GRCm39) |
E325G |
probably damaging |
Het |
Tyw1 |
T |
C |
5: 130,305,998 (GRCm39) |
|
probably benign |
Het |
Vmn2r111 |
C |
A |
17: 22,792,252 (GRCm39) |
M1I |
probably null |
Het |
Wdr11 |
C |
T |
7: 129,232,956 (GRCm39) |
T996M |
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 |
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'- GCGTTCCTTGCCCATGTAAC -3'
(R):5'- ATCGTATGTGTCAACAGTCACTG -3'
Sequencing Primer
(F):5'- GTAACTTTGCTCTCTTCTTCCCAAAG -3'
(R):5'- AGGCTCAGTCAGATCTCTGCAATG -3'
|
Posted On |
2016-09-06 |