Incidental Mutation 'R6522:Tfeb'
| ID |
521430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfeb
|
| Ensembl Gene |
ENSMUSG00000023990 |
| Gene Name |
transcription factor EB |
| Synonyms |
Tcfeb, TFEB, bHLHe35 |
| MMRRC Submission |
044648-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6522 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48047962-48103341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48100627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 140
(V140A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024786]
[ENSMUST00000086932]
[ENSMUST00000113284]
[ENSMUST00000113288]
[ENSMUST00000125177]
[ENSMUST00000126258]
[ENSMUST00000146782]
[ENSMUST00000137845]
[ENSMUST00000141631]
[ENSMUST00000160373]
[ENSMUST00000159641]
[ENSMUST00000130208]
|
| AlphaFold |
Q9R210 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024786
AA Change: V340A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024786
Gene: ENSMUSG00000023990
AA Change: V340A
| 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 damaging
Transcript: ENSMUST00000086932
AA Change: V281A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084151
Gene: ENSMUSG00000023990
AA Change: V281A
| 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 damaging
Transcript: ENSMUST00000113288
AA Change: V281A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108913
Gene: ENSMUSG00000023990
AA Change: V281A
| 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 damaging
Transcript: ENSMUST00000146782
AA Change: V140A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120311
Gene: ENSMUSG00000023990
AA Change: V140A
| 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: ENSMUST00000137845
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162719
|
| 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: 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: ENSMUST00000159641
|
| SMART Domains |
Protein: ENSMUSP00000124379
Gene: ENSMUSG00000023990
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140715
|
| 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 |
|
| Meta Mutation Damage Score |
0.7916 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
A |
10: 10,253,636 (GRCm39) |
E1209* |
probably null |
Het |
| Adgrg5 |
G |
T |
8: 95,668,696 (GRCm39) |
R503L |
probably benign |
Het |
| Anks1b |
C |
T |
10: 90,733,189 (GRCm39) |
|
probably benign |
Het |
| Anxa5 |
A |
T |
3: 36,519,451 (GRCm39) |
F13I |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,385,503 (GRCm39) |
I79V |
probably benign |
Het |
| Bnip1 |
A |
G |
17: 27,008,719 (GRCm39) |
D107G |
probably damaging |
Het |
| Ccdc42 |
A |
G |
11: 68,479,046 (GRCm39) |
E78G |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,153,446 (GRCm39) |
D69G |
probably damaging |
Het |
| Clec2i |
G |
T |
6: 128,870,692 (GRCm39) |
V77F |
probably damaging |
Het |
| Clec4g |
A |
C |
8: 3,768,803 (GRCm39) |
V62G |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,465,304 (GRCm39) |
A957V |
unknown |
Het |
| Csnk1d |
A |
G |
11: 120,862,449 (GRCm39) |
F277L |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,625,264 (GRCm39) |
|
probably null |
Het |
| Dpf2 |
T |
A |
19: 5,955,560 (GRCm39) |
K108* |
probably null |
Het |
| Dync1h1 |
G |
A |
12: 110,583,171 (GRCm39) |
D423N |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,766,554 (GRCm39) |
|
probably null |
Homo |
| Flad1 |
T |
C |
3: 89,310,490 (GRCm39) |
R488G |
probably damaging |
Het |
| Galnt6 |
A |
C |
15: 100,591,236 (GRCm39) |
*623E |
probably null |
Het |
| Gtf2e1 |
T |
C |
16: 37,331,816 (GRCm39) |
T420A |
possibly damaging |
Het |
| Hspg2 |
T |
C |
4: 137,282,586 (GRCm39) |
V3442A |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,237 (GRCm39) |
D55G |
probably damaging |
Het |
| Kdm2a |
C |
A |
19: 4,374,854 (GRCm39) |
R759L |
possibly damaging |
Het |
| Kif19a |
A |
G |
11: 114,676,605 (GRCm39) |
E478G |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,017,761 (GRCm39) |
V881I |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,977,335 (GRCm39) |
L894P |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,897,801 (GRCm39) |
|
probably null |
Het |
| Mst1r |
G |
A |
9: 107,790,438 (GRCm39) |
V684M |
probably benign |
Het |
| Naa15 |
T |
C |
3: 51,378,935 (GRCm39) |
S727P |
probably damaging |
Het |
| Nap1l1 |
T |
C |
10: 111,330,084 (GRCm39) |
L330S |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,247,281 (GRCm39) |
T2205A |
probably damaging |
Het |
| Ncf2 |
T |
C |
1: 152,703,214 (GRCm39) |
|
probably null |
Het |
| Opa1 |
T |
A |
16: 29,444,332 (GRCm39) |
N839K |
probably benign |
Het |
| Or4c104 |
T |
C |
2: 88,586,452 (GRCm39) |
D189G |
probably damaging |
Het |
| Or52a33 |
T |
C |
7: 103,288,504 (GRCm39) |
Y281C |
probably damaging |
Het |
| Or52n4b |
G |
A |
7: 108,144,202 (GRCm39) |
V155I |
probably benign |
Het |
| Pcdha7 |
T |
C |
18: 37,106,995 (GRCm39) |
Y7H |
possibly damaging |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,314 (GRCm39) |
V182A |
probably benign |
Het |
| Phf10 |
A |
T |
17: 15,176,269 (GRCm39) |
I128N |
probably damaging |
Het |
| Plce1 |
T |
A |
19: 38,736,965 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,048,629 (GRCm39) |
N626S |
probably benign |
Het |
| Prh1 |
G |
A |
6: 132,548,996 (GRCm39) |
G168R |
unknown |
Het |
| Prss51 |
A |
G |
14: 64,334,855 (GRCm39) |
T137A |
possibly damaging |
Het |
| Ptprcap |
C |
T |
19: 4,206,183 (GRCm39) |
R89C |
possibly damaging |
Het |
| Scfd1 |
A |
G |
12: 51,478,324 (GRCm39) |
K512R |
probably benign |
Het |
| Serpina1b |
A |
C |
12: 103,701,296 (GRCm39) |
|
probably null |
Het |
| Setbp1 |
T |
C |
18: 78,900,605 (GRCm39) |
T1021A |
probably damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,601,145 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
C |
T |
2: 127,063,747 (GRCm39) |
T642I |
probably benign |
Het |
| Tenm4 |
A |
C |
7: 96,492,251 (GRCm39) |
I1063L |
possibly damaging |
Het |
| Tfb2m |
G |
A |
1: 179,373,611 (GRCm39) |
A29V |
probably benign |
Het |
| Tmem104 |
A |
T |
11: 115,134,579 (GRCm39) |
I372F |
probably damaging |
Het |
| Tmem132d |
G |
T |
5: 127,860,832 (GRCm39) |
H1096Q |
probably benign |
Het |
| Trim12c |
A |
T |
7: 103,997,531 (GRCm39) |
N8K |
probably benign |
Het |
| Tti2 |
A |
G |
8: 31,643,631 (GRCm39) |
I249V |
probably null |
Het |
| Vps8 |
T |
A |
16: 21,261,129 (GRCm39) |
L90I |
probably damaging |
Het |
| Vwf |
A |
T |
6: 125,639,926 (GRCm39) |
|
probably null |
Het |
| Wdfy4 |
A |
G |
14: 32,868,901 (GRCm39) |
S376P |
probably damaging |
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 |
|
|
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 |
|
|
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 |
48,097,038 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Tfeb
|
UTSW |
17 |
48,097,037 (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'- TTGAGCCCAAGGATTAGTGAG -3'
(R):5'- TCCCTATGGGTGGCATTTCC -3'
Sequencing Primer
(F):5'- TTAGTGAGGAGCTGAACATTTGCAC -3'
(R):5'- GGCATTTCCAGGTCTCCAGATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation