Incidental Mutation 'R5063:Srebf2'
| ID |
386770 |
| 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 |
042653-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5063 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82061652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 366
(V366A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155022
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023100]
[ENSMUST00000229336]
|
| AlphaFold |
Q3U1N2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023100
AA Change: V406A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: V406A
| 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: ENSMUST00000229336
AA Change: V366A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230105
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231065
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,901,315 (GRCm39) |
H970R |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,471,469 (GRCm39) |
M1496V |
possibly damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,763,296 (GRCm39) |
T851S |
probably benign |
Het |
| Armh3 |
A |
G |
19: 45,874,394 (GRCm39) |
I593T |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,773,340 (GRCm39) |
S1782P |
probably benign |
Het |
| Capn13 |
T |
A |
17: 73,629,074 (GRCm39) |
R578* |
probably null |
Het |
| Casp8 |
A |
T |
1: 58,883,533 (GRCm39) |
H280L |
probably damaging |
Het |
| Cd274 |
G |
T |
19: 29,361,543 (GRCm39) |
D284Y |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,976,715 (GRCm39) |
C2441S |
probably damaging |
Het |
| Chn2 |
A |
T |
6: 54,267,272 (GRCm39) |
K118* |
probably null |
Het |
| Chst12 |
G |
T |
5: 140,510,167 (GRCm39) |
E265* |
probably null |
Het |
| Cp |
C |
A |
3: 20,043,379 (GRCm39) |
Q22K |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 87,222,306 (GRCm39) |
W404R |
probably damaging |
Het |
| Dnajb13 |
T |
G |
7: 100,160,030 (GRCm39) |
E69A |
probably damaging |
Het |
| Dzip1l |
A |
G |
9: 99,549,705 (GRCm39) |
E725G |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,774,117 (GRCm39) |
K373* |
probably null |
Het |
| Fmn1 |
C |
T |
2: 113,195,266 (GRCm39) |
T322I |
unknown |
Het |
| Gbp9 |
T |
C |
5: 105,233,028 (GRCm39) |
Y208C |
probably benign |
Het |
| Gtf2i |
T |
A |
5: 134,289,425 (GRCm39) |
K418N |
probably damaging |
Het |
| Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,472,914 (GRCm39) |
D251V |
probably damaging |
Het |
| Itpr3 |
A |
T |
17: 27,308,885 (GRCm39) |
I363F |
possibly damaging |
Het |
| Khnyn |
A |
T |
14: 56,124,660 (GRCm39) |
K305* |
probably null |
Het |
| Klf17 |
A |
G |
4: 117,617,856 (GRCm39) |
V167A |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,071,795 (GRCm39) |
D369G |
probably benign |
Het |
| Lrrc31 |
A |
G |
3: 30,744,085 (GRCm39) |
V141A |
possibly damaging |
Het |
| Msh5 |
A |
T |
17: 35,261,164 (GRCm39) |
|
probably null |
Het |
| Neb |
G |
A |
2: 52,113,224 (GRCm39) |
|
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,785,009 (GRCm39) |
S216T |
possibly damaging |
Het |
| Or2t6 |
A |
T |
14: 14,175,593 (GRCm38) |
M163K |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,469,191 (GRCm39) |
I50V |
probably benign |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,179 (GRCm39) |
G216C |
probably damaging |
Het |
| Ppy |
A |
G |
11: 101,991,525 (GRCm39) |
Y5H |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,081,734 (GRCm39) |
L112S |
probably damaging |
Het |
| Ptov1 |
A |
G |
7: 44,515,026 (GRCm39) |
I195T |
possibly damaging |
Het |
| Rassf10 |
C |
A |
7: 112,553,631 (GRCm39) |
D77E |
probably benign |
Het |
| Slc25a45 |
T |
C |
19: 5,934,490 (GRCm39) |
S153P |
possibly damaging |
Het |
| Slco1a5 |
G |
A |
6: 142,204,791 (GRCm39) |
R126C |
probably damaging |
Het |
| St6galnac5 |
T |
C |
3: 152,686,772 (GRCm39) |
S61G |
probably benign |
Het |
| Sult6b1 |
A |
T |
17: 79,213,005 (GRCm39) |
V82D |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,088,084 (GRCm39) |
C818S |
possibly damaging |
Het |
| Tex15 |
T |
G |
8: 34,072,638 (GRCm39) |
F2728L |
possibly damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,382,558 (GRCm39) |
F190Y |
probably damaging |
Het |
| Tmem175 |
T |
C |
5: 108,794,298 (GRCm39) |
L476P |
probably damaging |
Het |
| Tmprss11c |
T |
C |
5: 86,385,689 (GRCm39) |
K248R |
probably benign |
Het |
| Tnk2 |
T |
A |
16: 32,489,668 (GRCm39) |
F316I |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,372 (GRCm39) |
M477L |
probably benign |
Het |
| Vmn2r83 |
A |
C |
10: 79,314,921 (GRCm39) |
I390L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,648,603 (GRCm39) |
Y49C |
probably damaging |
Het |
| Zdhhc4 |
T |
A |
5: 143,302,377 (GRCm39) |
I318F |
probably damaging |
Het |
| Zmat4 |
A |
T |
8: 24,238,457 (GRCm39) |
D27V |
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 |
|
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'- AGGTCAATCACAAGCTGCGC -3'
(R):5'- ATTCTGAGGGTGAGACATTTCAG -3'
Sequencing Primer
(F):5'- TGCTGAAGCTGGCCAATCAG -3'
(R):5'- TTCAGAAGCACATACCTTTGCG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation