Incidental Mutation 'R5668:Srebf2'
| ID |
442473 |
| 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 |
043311-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5668 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
82031455-82089580 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 82076456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 702
(T702I)
|
| 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: T742I
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000023100
Gene: ENSMUSG00000022463
AA Change: T742I
| 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: T702I
PolyPhen 2
Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229390
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230955
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
99% (84/85) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,603,975 (GRCm39) |
W429R |
probably damaging |
Het |
| Afg1l |
C |
T |
10: 42,236,236 (GRCm39) |
C272Y |
probably damaging |
Het |
| Agrn |
T |
C |
4: 156,251,770 (GRCm39) |
T1831A |
probably damaging |
Het |
| Aifm2 |
T |
C |
10: 61,561,696 (GRCm39) |
V14A |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,920,321 (GRCm39) |
|
probably null |
Het |
| Arfgap1 |
A |
T |
2: 180,615,912 (GRCm39) |
D197V |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,294 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,817,350 (GRCm39) |
I1387M |
probably damaging |
Het |
| Cavin4 |
A |
G |
4: 48,672,499 (GRCm39) |
T315A |
probably benign |
Het |
| Cep128 |
T |
C |
12: 90,966,410 (GRCm39) |
T1066A |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,171,558 (GRCm39) |
T376A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,656,397 (GRCm39) |
|
silent |
Het |
| Colec12 |
T |
A |
18: 9,848,963 (GRCm39) |
D380E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,559,151 (GRCm39) |
I2371V |
possibly damaging |
Het |
| Cspg4b |
A |
G |
13: 113,453,701 (GRCm39) |
S55G |
possibly damaging |
Het |
| Cxcl3 |
T |
C |
5: 90,935,299 (GRCm39) |
S99P |
unknown |
Het |
| Ddx60 |
A |
G |
8: 62,453,612 (GRCm39) |
R1244G |
probably benign |
Het |
| Dhx38 |
T |
C |
8: 110,280,048 (GRCm39) |
D914G |
probably damaging |
Het |
| Dlc1 |
T |
G |
8: 37,404,655 (GRCm39) |
|
probably benign |
Het |
| Eif4a3l1 |
A |
T |
6: 136,306,393 (GRCm39) |
I264F |
probably benign |
Het |
| Fam161b |
A |
G |
12: 84,403,124 (GRCm39) |
S169P |
probably damaging |
Het |
| Fastkd1 |
A |
G |
2: 69,537,725 (GRCm39) |
S286P |
possibly damaging |
Het |
| Fmn2 |
A |
T |
1: 174,409,603 (GRCm39) |
E612V |
unknown |
Het |
| Foxb1 |
T |
A |
9: 69,667,528 (GRCm39) |
M1L |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,007,402 (GRCm39) |
C164* |
probably null |
Het |
| Gm43302 |
T |
A |
5: 105,423,678 (GRCm39) |
M432L |
probably benign |
Het |
| Gm4353 |
C |
A |
7: 115,682,913 (GRCm39) |
A223S |
probably damaging |
Het |
| Gpatch8 |
T |
C |
11: 102,391,693 (GRCm39) |
K143R |
unknown |
Het |
| Gpr15 |
A |
G |
16: 58,538,013 (GRCm39) |
S359P |
probably damaging |
Het |
| Gucy2e |
A |
G |
11: 69,119,207 (GRCm39) |
L649P |
probably damaging |
Het |
| H2-M10.5 |
C |
A |
17: 37,085,473 (GRCm39) |
H211N |
probably damaging |
Het |
| Hs6st1 |
T |
C |
1: 36,142,970 (GRCm39) |
Y302H |
probably damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,851 (GRCm39) |
D165V |
probably damaging |
Het |
| Klra13-ps |
T |
G |
6: 130,281,246 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc37 |
T |
A |
11: 103,507,880 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,391,001 (GRCm39) |
T1475S |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,184,844 (GRCm39) |
S437P |
probably damaging |
Het |
| Maz |
C |
T |
7: 126,624,494 (GRCm39) |
C342Y |
probably damaging |
Het |
| Mcf2l |
C |
A |
8: 13,063,812 (GRCm39) |
S1008* |
probably null |
Het |
| Mcmbp |
T |
C |
7: 128,314,478 (GRCm39) |
D246G |
probably benign |
Het |
| Mipol1 |
G |
A |
12: 57,372,346 (GRCm39) |
R135H |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,357,955 (GRCm39) |
Y4613F |
possibly damaging |
Het |
| Nup188 |
G |
A |
2: 30,226,336 (GRCm39) |
A1118T |
probably damaging |
Het |
| Or10g6 |
A |
T |
9: 39,933,964 (GRCm39) |
I92F |
probably damaging |
Het |
| Or2k2 |
T |
A |
4: 58,785,489 (GRCm39) |
I78F |
probably benign |
Het |
| Or4a76 |
G |
A |
2: 89,460,688 (GRCm39) |
L185F |
probably damaging |
Het |
| Or4c121 |
A |
T |
2: 89,024,170 (GRCm39) |
D69E |
possibly damaging |
Het |
| Or4z4 |
A |
G |
19: 12,076,290 (GRCm39) |
S238P |
probably damaging |
Het |
| Or51f1e |
A |
T |
7: 102,747,103 (GRCm39) |
S52C |
probably benign |
Het |
| Or51h7 |
T |
C |
7: 102,591,128 (GRCm39) |
K219E |
probably benign |
Het |
| P3h1 |
T |
A |
4: 119,101,243 (GRCm39) |
I460N |
possibly damaging |
Het |
| Pcnt |
T |
C |
10: 76,245,334 (GRCm39) |
D1101G |
probably benign |
Het |
| Phlpp2 |
C |
A |
8: 110,655,205 (GRCm39) |
Q667K |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,074,666 (GRCm39) |
F434L |
possibly damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,164,602 (GRCm39) |
I602N |
probably damaging |
Het |
| Rdh8 |
A |
C |
9: 20,736,475 (GRCm39) |
I181L |
probably benign |
Het |
| Rnf181 |
A |
G |
6: 72,338,505 (GRCm39) |
M1T |
probably null |
Het |
| Rpl29-ps2 |
A |
G |
13: 4,664,221 (GRCm39) |
|
noncoding transcript |
Het |
| Sart3 |
A |
G |
5: 113,883,217 (GRCm39) |
|
probably null |
Het |
| Sec14l2 |
A |
C |
11: 4,059,189 (GRCm39) |
L160R |
probably damaging |
Het |
| Senp1 |
C |
T |
15: 97,946,236 (GRCm39) |
R503H |
probably damaging |
Het |
| Shoc1 |
A |
G |
4: 59,047,399 (GRCm39) |
S1407P |
probably benign |
Het |
| Slc22a2 |
T |
C |
17: 12,827,296 (GRCm39) |
V316A |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 55,556,898 (GRCm39) |
I365F |
possibly damaging |
Het |
| Spag5 |
T |
C |
11: 78,195,542 (GRCm39) |
V283A |
possibly damaging |
Het |
| Sun3 |
A |
G |
11: 8,981,433 (GRCm39) |
|
probably null |
Het |
| Syt6 |
A |
G |
3: 103,528,217 (GRCm39) |
Y312C |
probably damaging |
Het |
| Tas2r121 |
T |
A |
6: 132,677,756 (GRCm39) |
Y72F |
possibly damaging |
Het |
| Tfrc |
A |
G |
16: 32,442,194 (GRCm39) |
Y473C |
probably damaging |
Het |
| Trp63 |
C |
T |
16: 25,684,935 (GRCm39) |
A274V |
possibly damaging |
Het |
| Trpm5 |
T |
C |
7: 142,626,966 (GRCm39) |
D1085G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,745,008 (GRCm39) |
V5347A |
probably benign |
Het |
| Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
| Vma21-ps |
T |
A |
4: 52,496,946 (GRCm39) |
Q100L |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,614,873 (GRCm39) |
N239S |
probably benign |
Het |
| Wfdc8 |
T |
C |
2: 164,439,339 (GRCm39) |
|
probably benign |
Het |
| Xkr4 |
T |
A |
1: 3,741,258 (GRCm39) |
Y105F |
probably damaging |
Het |
| Xpo7 |
C |
T |
14: 70,920,286 (GRCm39) |
V627I |
possibly damaging |
Het |
| Zfp606 |
T |
C |
7: 12,226,479 (GRCm39) |
V200A |
probably benign |
Het |
| Zfp936 |
A |
T |
7: 42,839,858 (GRCm39) |
S441C |
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 |
|
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'- CGGGACTTAACTGTCAAGCCTG -3'
(R):5'- CATCTGAGTGTCTAGTCTCCTG -3'
Sequencing Primer
(F):5'- ACTGTCAAGCCTGAGAAGTTTC -3'
(R):5'- AGTGTCTAGTCTCCTGTGACGC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation