Incidental Mutation 'RF022:Tfeb'
ID |
603966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tfeb
|
Ensembl Gene |
ENSMUSG00000023990 |
Gene Name |
transcription factor EB |
Synonyms |
Tcfeb, TFEB, bHLHe35 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
RF022 (G1)
|
Quality Score |
168.468 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
48047962-48103341 bp(+) (GRCm39) |
Type of Mutation |
small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
GCA to GCAACA
at 48097019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124708
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024786]
[ENSMUST00000086932]
[ENSMUST00000113284]
[ENSMUST00000113288]
[ENSMUST00000125177]
[ENSMUST00000126258]
[ENSMUST00000159641]
[ENSMUST00000130208]
[ENSMUST00000160373]
[ENSMUST00000141631]
[ENSMUST00000137845]
[ENSMUST00000146782]
|
AlphaFold |
Q9R210 |
Predicted Effect |
probably benign
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 benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000124765
|
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: 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: 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: ENSMUST00000160373
|
SMART Domains |
Protein: ENSMUSP00000124708 Gene: ENSMUSG00000023990
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
43 |
N/A |
INTRINSIC |
|
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 benign
Transcript: ENSMUST00000137845
|
Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000162719
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140715
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
GTACT |
GTACTACT |
12: 110,634,877 (GRCm39) |
|
probably null |
Het |
Acap3 |
CCTGGGCTGCTG |
CCTGGGCTGCTGCATACTGGGCTGCTG |
4: 155,989,553 (GRCm39) |
|
probably benign |
Het |
Adam6b |
A |
T |
12: 113,455,289 (GRCm39) |
E702V |
possibly damaging |
Het |
Arpc3 |
A |
G |
5: 122,538,489 (GRCm39) |
T7A |
probably benign |
Het |
Bcl3 |
G |
A |
7: 19,542,966 (GRCm39) |
P393L |
probably damaging |
Het |
Ceacam9 |
A |
G |
7: 16,459,304 (GRCm39) |
D201G |
possibly damaging |
Het |
Chga |
AGC |
AGCCGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
Clgn |
A |
G |
8: 84,152,235 (GRCm39) |
K579R |
probably damaging |
Het |
Cntnap2 |
C |
T |
6: 46,998,599 (GRCm39) |
R884W |
probably damaging |
Het |
Col6a4 |
A |
T |
9: 105,954,207 (GRCm39) |
D377E |
probably damaging |
Het |
Cort |
GCCCACTCGT |
G |
4: 149,209,869 (GRCm39) |
|
probably benign |
Het |
D5Ertd579e |
A |
C |
5: 36,772,006 (GRCm39) |
I796M |
probably damaging |
Het |
Dmkn |
GGTGGAAGTGGTGGAAG |
GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG |
7: 30,466,600 (GRCm39) |
|
probably benign |
Het |
Dpagt1 |
G |
T |
9: 44,243,262 (GRCm39) |
V266L |
possibly damaging |
Het |
Ebf3 |
C |
A |
7: 136,915,671 (GRCm39) |
|
probably benign |
Het |
Exd2 |
AGCAGCCGCAGCC |
AGCAGCC |
12: 80,522,691 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
CACTCCTGGTGT |
CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT |
17: 23,981,141 (GRCm39) |
|
probably null |
Het |
Gab3 |
CTT |
CTTATT |
X: 74,043,600 (GRCm39) |
|
probably null |
Het |
Golga4 |
A |
G |
9: 118,387,057 (GRCm39) |
D1393G |
probably damaging |
Het |
Gpc5 |
G |
A |
14: 115,789,688 (GRCm39) |
V521I |
probably damaging |
Het |
Grik1 |
A |
T |
16: 87,693,225 (GRCm39) |
N859K |
|
Het |
Insrr |
G |
A |
3: 87,711,792 (GRCm39) |
A511T |
possibly damaging |
Het |
Isx |
A |
G |
8: 75,600,474 (GRCm39) |
D69G |
probably damaging |
Het |
Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
Lkaaear1 |
CAGCTCCAG |
CAGCTCCAGGTCGAGCTCCAG |
2: 181,339,370 (GRCm39) |
|
probably benign |
Het |
Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
Magel2 |
A |
G |
7: 62,029,841 (GRCm39) |
E915G |
unknown |
Het |
Maml3 |
A |
G |
3: 51,764,083 (GRCm39) |
S294P |
probably damaging |
Het |
Mamld1 |
AGC |
AGCCGC |
X: 70,162,426 (GRCm39) |
|
probably benign |
Het |
Mef2d |
A |
T |
3: 88,075,574 (GRCm39) |
T486S |
probably benign |
Het |
Ms4a8a |
A |
G |
19: 11,053,689 (GRCm39) |
V139A |
possibly damaging |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or2z8 |
T |
G |
8: 72,812,468 (GRCm39) |
*315G |
probably null |
Het |
Pdik1l |
GTTTTTGTTTT |
GTTTTTGTTTTTTTTTTGTTTT |
4: 134,006,678 (GRCm39) |
|
probably null |
Het |
Pnma8a |
TCATGATGCACCTGCTTCAACATC |
TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC |
7: 16,695,352 (GRCm39) |
|
probably benign |
Het |
Ppfibp2 |
T |
C |
7: 107,296,817 (GRCm39) |
L177P |
probably damaging |
Het |
Ppp1r13l |
ACAGGCACCCTGCTCCGGC |
AC |
7: 19,102,467 (GRCm39) |
|
probably benign |
Het |
Ptprh |
A |
G |
7: 4,552,367 (GRCm39) |
F966L |
probably benign |
Het |
Rad17 |
A |
G |
13: 100,773,593 (GRCm39) |
L132S |
probably damaging |
Het |
Raph1 |
GG |
GGGGG |
1: 60,528,426 (GRCm39) |
|
probably benign |
Het |
Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
Rwdd2b |
C |
T |
16: 87,233,558 (GRCm39) |
A181T |
probably benign |
Het |
Sh3pxd2b |
GCCTGT |
GCCTGTTCCTGT |
11: 32,373,054 (GRCm39) |
|
probably benign |
Het |
Six3 |
CGG |
CGGTGG |
17: 85,928,784 (GRCm39) |
|
probably benign |
Het |
Sla |
C |
T |
15: 66,654,593 (GRCm39) |
G231D |
probably benign |
Het |
Tcof1 |
CAG |
CAGTAG |
18: 60,968,807 (GRCm39) |
|
probably benign |
Het |
Tgm5 |
T |
A |
2: 120,902,092 (GRCm39) |
E192D |
probably damaging |
Het |
Tmem123 |
A |
G |
9: 7,791,414 (GRCm39) |
Y171C |
probably damaging |
Het |
Tnrc18 |
G |
A |
5: 142,759,385 (GRCm39) |
A999V |
|
Het |
Triobp |
C |
T |
15: 78,858,482 (GRCm39) |
P1361L |
probably benign |
Het |
Ubac1 |
A |
T |
2: 25,895,470 (GRCm39) |
W328R |
probably damaging |
Het |
Ube2q1 |
A |
G |
3: 89,688,200 (GRCm39) |
N324S |
probably benign |
Het |
Zcchc2 |
T |
C |
1: 105,939,472 (GRCm39) |
I407T |
possibly damaging |
Het |
Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
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 |
R6804:Tfeb
|
UTSW |
17 |
48,100,735 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
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'- CTGTGCTTAAAGACTACGAAGATGATG -3'
(R):5'- GAACCTTCTGATGCTGGGAC -3'
Sequencing Primer
(F):5'- TGAATACTTCATGGGCCTGTC -3'
(R):5'- TTCTCCAGGTAGGACTGCAC -3'
|
Posted On |
2019-12-04 |