Incidental Mutation 'R6928:Srebf2'
| ID |
539868 |
| 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 |
045045-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6928 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 82087924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 215
(R215*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023100]
[ENSMUST00000179269]
[ENSMUST00000229336]
[ENSMUST00000229543]
|
| AlphaFold |
Q3U1N2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023100
AA Change: R1067*
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: R1067*
| 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: ENSMUST00000179269
|
| SMART Domains |
Protein: ENSMUSP00000137002
Gene: ENSMUSG00000096883
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
36 |
N/A |
INTRINSIC |
|
Pfam:Shisa
|
55 |
189 |
1.7e-33 |
PFAM |
|
low complexity region
|
234 |
246 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
268 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
360 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229336
AA Change: R1027*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229543
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230955
AA Change: R215*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.5%
|
| Validation Efficiency |
98% (62/63) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
G |
6: 55,456,257 (GRCm39) |
D215G |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 30,948,326 (GRCm39) |
M40L |
probably damaging |
Het |
| Aspg |
G |
A |
12: 112,093,123 (GRCm39) |
V547M |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,407,944 (GRCm39) |
L2277* |
probably null |
Het |
| Atp7b |
A |
G |
8: 22,484,828 (GRCm39) |
S1295P |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,943,193 (GRCm39) |
S199P |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,387,642 (GRCm39) |
E514G |
possibly damaging |
Het |
| Cenpk |
G |
T |
13: 104,365,500 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
C |
A |
9: 105,817,118 (GRCm39) |
V398L |
unknown |
Het |
| Colec10 |
A |
T |
15: 54,326,002 (GRCm39) |
K277N |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,805,164 (GRCm39) |
Y1992N |
possibly damaging |
Het |
| Drd3 |
G |
T |
16: 43,641,683 (GRCm39) |
R333L |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,207,342 (GRCm39) |
R269C |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,212,252 (GRCm39) |
C188Y |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,267,112 (GRCm39) |
D1041G |
unknown |
Het |
| Frem3 |
T |
C |
8: 81,337,911 (GRCm39) |
F68S |
possibly damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,634 (GRCm39) |
V212A |
probably damaging |
Het |
| Gzmb |
T |
C |
14: 56,497,734 (GRCm39) |
K169E |
probably benign |
Het |
| Hexd |
T |
A |
11: 121,102,880 (GRCm39) |
F33I |
possibly damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,718,269 (GRCm39) |
I32V |
probably benign |
Het |
| Jcad |
T |
C |
18: 4,673,372 (GRCm39) |
V378A |
probably benign |
Het |
| Kcnmb2 |
T |
C |
3: 32,253,190 (GRCm39) |
S177P |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,050,800 (GRCm39) |
S651T |
possibly damaging |
Het |
| Map3k2 |
T |
C |
18: 32,340,593 (GRCm39) |
|
probably null |
Het |
| Mib1 |
T |
G |
18: 10,802,282 (GRCm39) |
S870A |
probably benign |
Het |
| Moap1 |
T |
A |
12: 102,708,871 (GRCm39) |
N226I |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,176,186 (GRCm39) |
N547K |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,781,042 (GRCm39) |
V16A |
probably benign |
Het |
| Nme1 |
T |
C |
11: 93,850,229 (GRCm39) |
Y151C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,653 (GRCm39) |
F879L |
probably benign |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,796 (GRCm39) |
Y197* |
probably null |
Het |
| Or5ac25 |
C |
A |
16: 59,181,826 (GRCm39) |
G252C |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
| Or5b99 |
A |
G |
19: 12,977,202 (GRCm39) |
N284S |
probably damaging |
Het |
| Or8d23 |
T |
C |
9: 38,841,862 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,928 (GRCm39) |
M268V |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,474 (GRCm39) |
E201G |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,152,004 (GRCm39) |
V301A |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,157,003 (GRCm39) |
S411T |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,985,973 (GRCm39) |
W653R |
probably damaging |
Het |
| Rnd3 |
T |
A |
2: 51,022,518 (GRCm39) |
I175L |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,791 (GRCm39) |
E199G |
possibly damaging |
Het |
| Sgpp1 |
T |
C |
12: 75,763,344 (GRCm39) |
Y279C |
probably damaging |
Het |
| Slc2a13 |
A |
G |
15: 91,160,382 (GRCm39) |
I524T |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,290,586 (GRCm39) |
|
probably null |
Het |
| Spg11 |
C |
T |
2: 121,900,385 (GRCm39) |
V1556I |
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,855 (GRCm39) |
C288S |
probably benign |
Het |
| Tdpoz8 |
G |
A |
3: 92,981,267 (GRCm39) |
C95Y |
probably damaging |
Het |
| Tmem19 |
T |
C |
10: 115,183,179 (GRCm39) |
N147S |
possibly damaging |
Het |
| Tpr |
T |
C |
1: 150,284,536 (GRCm39) |
S408P |
possibly damaging |
Het |
| Trav13d-4 |
C |
T |
14: 53,310,618 (GRCm39) |
T53I |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,099,307 (GRCm39) |
R168W |
possibly damaging |
Het |
| Trim11 |
A |
G |
11: 58,879,669 (GRCm39) |
K273R |
probably damaging |
Het |
| Tsacc |
T |
A |
3: 88,190,247 (GRCm39) |
M68L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,869 (GRCm39) |
M22110L |
probably benign |
Het |
| Zfp160 |
G |
T |
17: 21,261,724 (GRCm39) |
G104V |
probably benign |
Het |
| Zfp582 |
T |
C |
7: 6,357,266 (GRCm39) |
Y360H |
probably damaging |
Het |
| Zranb1 |
G |
A |
7: 132,568,323 (GRCm39) |
R301H |
possibly 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 |
|
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 |
|
|
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'- AAACTTCGGATGTCCTCCCAG -3'
(R):5'- GCCCAGCTTGACAATCATCTG -3'
Sequencing Primer
(F):5'- GGGTTTGACTATCTCAGCCCAC -3'
(R):5'- TGACAATCATCTGCTGGCAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation