Incidental Mutation 'R6804:Tfeb'
ID |
533504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tfeb
|
Ensembl Gene |
ENSMUSG00000023990 |
Gene Name |
transcription factor EB |
Synonyms |
Tcfeb, TFEB, bHLHe35 |
MMRRC Submission |
044917-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6804 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
48047962-48103341 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 48100735 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120311
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024786]
[ENSMUST00000086932]
[ENSMUST00000113284]
[ENSMUST00000113288]
[ENSMUST00000125177]
[ENSMUST00000126258]
[ENSMUST00000130208]
[ENSMUST00000137845]
[ENSMUST00000141631]
[ENSMUST00000146782]
[ENSMUST00000159641]
[ENSMUST00000160373]
|
AlphaFold |
Q9R210 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024786
|
SMART Domains |
Protein: ENSMUSP00000024786 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
Pfam:MITF_TFEB_C_3_N
|
63 |
220 |
2e-69 |
PFAM |
HLH
|
299 |
352 |
1.44e-15 |
SMART |
Pfam:DUF3371
|
379 |
531 |
1.8e-39 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000086932
|
SMART Domains |
Protein: ENSMUSP00000084151 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
43 |
N/A |
INTRINSIC |
low complexity region
|
108 |
122 |
N/A |
INTRINSIC |
HLH
|
240 |
293 |
1.44e-15 |
SMART |
Pfam:DUF3371
|
320 |
473 |
7e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113284
|
SMART Domains |
Protein: ENSMUSP00000108909 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
43 |
N/A |
INTRINSIC |
low complexity region
|
108 |
122 |
N/A |
INTRINSIC |
Pfam:HLH
|
235 |
266 |
1.4e-9 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000113288
|
SMART Domains |
Protein: ENSMUSP00000108913 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
43 |
N/A |
INTRINSIC |
low complexity region
|
108 |
122 |
N/A |
INTRINSIC |
HLH
|
240 |
293 |
1.44e-15 |
SMART |
Pfam:DUF3371
|
320 |
473 |
7e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125177
|
SMART Domains |
Protein: ENSMUSP00000121888 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
low complexity region
|
42 |
78 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126258
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130208
|
SMART Domains |
Protein: ENSMUSP00000122228 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
43 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137845
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141631
|
SMART Domains |
Protein: ENSMUSP00000118057 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
43 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000146782
|
SMART Domains |
Protein: ENSMUSP00000120311 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
HLH
|
99 |
152 |
1.44e-15 |
SMART |
Pfam:DUF3371
|
179 |
332 |
1.1e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159641
|
SMART Domains |
Protein: ENSMUSP00000124379 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
43 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160373
|
SMART Domains |
Protein: ENSMUSP00000124708 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
43 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aox1 |
A |
T |
1: 58,343,757 (GRCm39) |
Q480L |
probably benign |
Het |
Arid4b |
T |
A |
13: 14,303,792 (GRCm39) |
D72E |
probably benign |
Het |
Avil |
C |
T |
10: 126,844,175 (GRCm39) |
Q245* |
probably null |
Het |
BC048679 |
T |
C |
7: 81,146,612 (GRCm39) |
S2G |
possibly damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Cacna1d |
T |
C |
14: 29,773,622 (GRCm39) |
T1723A |
probably benign |
Het |
Cfap91 |
T |
C |
16: 38,152,604 (GRCm39) |
D202G |
probably damaging |
Het |
Chil3 |
A |
T |
3: 106,071,495 (GRCm39) |
Y56* |
probably null |
Het |
Clec2i |
A |
G |
6: 128,872,384 (GRCm39) |
E172G |
probably damaging |
Het |
Crybg1 |
C |
T |
10: 43,842,337 (GRCm39) |
D1785N |
probably damaging |
Het |
Csmd1 |
G |
A |
8: 16,087,260 (GRCm39) |
R1930W |
probably damaging |
Het |
D430041D05Rik |
A |
C |
2: 103,979,371 (GRCm39) |
S2019A |
possibly damaging |
Het |
Ep300 |
T |
A |
15: 81,525,512 (GRCm39) |
Y1445* |
probably null |
Het |
Gne |
A |
G |
4: 44,060,210 (GRCm39) |
I61T |
probably damaging |
Het |
Ifit3b |
A |
T |
19: 34,588,947 (GRCm39) |
Q41L |
possibly damaging |
Het |
Kplce |
T |
C |
3: 92,776,354 (GRCm39) |
T110A |
possibly damaging |
Het |
Llgl2 |
A |
G |
11: 115,734,141 (GRCm39) |
|
probably null |
Het |
Mast3 |
T |
C |
8: 71,239,376 (GRCm39) |
I417V |
probably benign |
Het |
Mettl21e |
T |
A |
1: 44,257,295 (GRCm39) |
I8F |
probably benign |
Het |
Ms4a2 |
A |
G |
19: 11,594,899 (GRCm39) |
Y183H |
probably damaging |
Het |
Naip6 |
C |
G |
13: 100,435,675 (GRCm39) |
E949D |
probably benign |
Het |
Nbea |
T |
C |
3: 55,994,874 (GRCm39) |
T181A |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
Olfm3 |
A |
T |
3: 114,916,328 (GRCm39) |
Y400F |
probably benign |
Het |
Or12d2 |
A |
G |
17: 37,625,021 (GRCm39) |
S85P |
probably damaging |
Het |
Or1e33 |
A |
G |
11: 73,738,240 (GRCm39) |
V237A |
probably benign |
Het |
Or2a25 |
A |
T |
6: 42,888,852 (GRCm39) |
T132S |
probably benign |
Het |
Or2y1e |
A |
G |
11: 49,218,808 (GRCm39) |
D190G |
probably benign |
Het |
Pappa2 |
T |
C |
1: 158,764,438 (GRCm39) |
S358G |
probably benign |
Het |
Pde4dip |
C |
A |
3: 97,700,564 (GRCm39) |
E259* |
probably null |
Het |
Phlpp2 |
T |
A |
8: 110,655,197 (GRCm39) |
L664Q |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,390,635 (GRCm39) |
K1262R |
possibly damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Saal1 |
GGCTTGCACGCCGT |
G |
7: 46,349,064 (GRCm39) |
|
probably null |
Het |
Sec31a |
C |
T |
5: 100,530,671 (GRCm39) |
V701I |
probably benign |
Het |
Smarca2 |
A |
T |
19: 26,729,286 (GRCm39) |
R12S |
possibly damaging |
Het |
Spocd1 |
T |
A |
4: 129,847,423 (GRCm39) |
C537* |
probably null |
Het |
Syt14 |
T |
C |
1: 192,584,161 (GRCm39) |
E701G |
probably damaging |
Het |
Taf3 |
T |
C |
2: 9,923,028 (GRCm39) |
Y32C |
possibly damaging |
Het |
Ttc13 |
C |
A |
8: 125,426,426 (GRCm39) |
R168L |
probably damaging |
Het |
Vmn2r11 |
T |
A |
5: 109,201,350 (GRCm39) |
N385Y |
probably damaging |
Het |
Vmn2r54 |
T |
C |
7: 12,363,792 (GRCm39) |
K367R |
probably benign |
Het |
|
Other mutations in Tfeb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Tfeb
|
APN |
17 |
48,102,589 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03248:Tfeb
|
APN |
17 |
48,097,920 (GRCm39) |
missense |
probably benign |
|
IGL03280:Tfeb
|
APN |
17 |
48,096,862 (GRCm39) |
missense |
probably benign |
|
FR4304:Tfeb
|
UTSW |
17 |
48,097,019 (GRCm39) |
small insertion |
probably benign |
|
FR4976:Tfeb
|
UTSW |
17 |
48,097,019 (GRCm39) |
small insertion |
probably benign |
|
R0414:Tfeb
|
UTSW |
17 |
48,099,224 (GRCm39) |
splice site |
probably null |
|
R1712:Tfeb
|
UTSW |
17 |
48,099,911 (GRCm39) |
critical splice donor site |
probably null |
|
R2014:Tfeb
|
UTSW |
17 |
48,102,484 (GRCm39) |
missense |
probably damaging |
0.97 |
R2101:Tfeb
|
UTSW |
17 |
48,100,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R4283:Tfeb
|
UTSW |
17 |
48,100,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R4734:Tfeb
|
UTSW |
17 |
48,096,787 (GRCm39) |
missense |
probably benign |
0.33 |
R4785:Tfeb
|
UTSW |
17 |
48,099,152 (GRCm39) |
splice site |
probably null |
|
R4948:Tfeb
|
UTSW |
17 |
48,096,904 (GRCm39) |
missense |
probably benign |
0.00 |
R5896:Tfeb
|
UTSW |
17 |
48,070,433 (GRCm39) |
critical splice donor site |
probably null |
|
R6522:Tfeb
|
UTSW |
17 |
48,100,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R6836:Tfeb
|
UTSW |
17 |
48,097,123 (GRCm39) |
critical splice donor site |
probably null |
|
R6923:Tfeb
|
UTSW |
17 |
48,097,908 (GRCm39) |
missense |
probably benign |
0.11 |
RF002:Tfeb
|
UTSW |
17 |
48,097,027 (GRCm39) |
small insertion |
probably benign |
|
RF003:Tfeb
|
UTSW |
17 |
48,099,003 (GRCm39) |
missense |
possibly damaging |
0.86 |
RF006:Tfeb
|
UTSW |
17 |
48,097,038 (GRCm39) |
small insertion |
probably benign |
|
RF008:Tfeb
|
UTSW |
17 |
48,097,027 (GRCm39) |
small insertion |
probably benign |
|
RF010:Tfeb
|
UTSW |
17 |
48,097,032 (GRCm39) |
small insertion |
probably benign |
|
RF010:Tfeb
|
UTSW |
17 |
48,097,019 (GRCm39) |
small insertion |
probably benign |
|
RF018:Tfeb
|
UTSW |
17 |
48,097,020 (GRCm39) |
small insertion |
probably benign |
|
RF022:Tfeb
|
UTSW |
17 |
48,097,019 (GRCm39) |
small insertion |
probably benign |
|
RF025:Tfeb
|
UTSW |
17 |
48,097,013 (GRCm39) |
small insertion |
probably benign |
|
RF028:Tfeb
|
UTSW |
17 |
48,097,022 (GRCm39) |
small insertion |
probably benign |
|
RF030:Tfeb
|
UTSW |
17 |
48,097,036 (GRCm39) |
small insertion |
probably benign |
|
RF030:Tfeb
|
UTSW |
17 |
48,097,037 (GRCm39) |
small insertion |
probably benign |
|
RF030:Tfeb
|
UTSW |
17 |
48,097,038 (GRCm39) |
small insertion |
probably benign |
|
RF034:Tfeb
|
UTSW |
17 |
48,097,023 (GRCm39) |
nonsense |
probably null |
|
RF034:Tfeb
|
UTSW |
17 |
48,097,022 (GRCm39) |
small insertion |
probably benign |
|
RF035:Tfeb
|
UTSW |
17 |
48,097,036 (GRCm39) |
small insertion |
probably benign |
|
RF036:Tfeb
|
UTSW |
17 |
48,097,028 (GRCm39) |
small insertion |
probably benign |
|
RF038:Tfeb
|
UTSW |
17 |
48,097,037 (GRCm39) |
small insertion |
probably benign |
|
RF038:Tfeb
|
UTSW |
17 |
48,097,030 (GRCm39) |
small insertion |
probably benign |
|
RF039:Tfeb
|
UTSW |
17 |
48,097,035 (GRCm39) |
nonsense |
probably null |
|
RF039:Tfeb
|
UTSW |
17 |
48,097,020 (GRCm39) |
small insertion |
probably benign |
|
RF040:Tfeb
|
UTSW |
17 |
48,097,036 (GRCm39) |
small insertion |
probably benign |
|
RF040:Tfeb
|
UTSW |
17 |
48,097,035 (GRCm39) |
small insertion |
probably benign |
|
RF040:Tfeb
|
UTSW |
17 |
48,097,022 (GRCm39) |
small insertion |
probably benign |
|
RF040:Tfeb
|
UTSW |
17 |
48,097,037 (GRCm39) |
small insertion |
probably benign |
|
RF041:Tfeb
|
UTSW |
17 |
48,097,025 (GRCm39) |
small insertion |
probably benign |
|
RF042:Tfeb
|
UTSW |
17 |
48,097,022 (GRCm39) |
small insertion |
probably benign |
|
RF047:Tfeb
|
UTSW |
17 |
48,097,041 (GRCm39) |
small insertion |
probably benign |
|
RF047:Tfeb
|
UTSW |
17 |
48,097,031 (GRCm39) |
small insertion |
probably benign |
|
RF053:Tfeb
|
UTSW |
17 |
48,097,039 (GRCm39) |
small insertion |
probably benign |
|
RF054:Tfeb
|
UTSW |
17 |
48,097,023 (GRCm39) |
nonsense |
probably null |
|
RF060:Tfeb
|
UTSW |
17 |
48,097,031 (GRCm39) |
small insertion |
probably benign |
|
RF061:Tfeb
|
UTSW |
17 |
48,097,017 (GRCm39) |
small insertion |
probably benign |
|
RF062:Tfeb
|
UTSW |
17 |
48,097,025 (GRCm39) |
small insertion |
probably benign |
|
Z1177:Tfeb
|
UTSW |
17 |
48,102,569 (GRCm39) |
missense |
possibly damaging |
0.74 |
Z1177:Tfeb
|
UTSW |
17 |
48,097,449 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGGAACTCTGAGCTAAGCCTG -3'
(R):5'- ATATGCTGCTTGACGGAACTG -3'
Sequencing Primer
(F):5'- TCTGAGCTAAGCCTGCGGTG -3'
(R):5'- AACTGGGGTTCATTTTTCATTGAGGC -3'
|
Posted On |
2018-09-12 |