Incidental Mutation 'IGL03280:Tfeb'
| ID |
415570 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tfeb
|
| Ensembl Gene |
ENSMUSG00000023990 |
| Gene Name |
transcription factor EB |
| Synonyms |
bHLHe35, TFEB, Tcfeb |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03280
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
47737030-47792419 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 47785937 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 43
(F43S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024786
(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 benign
Transcript: ENSMUST00000024786
AA Change: F43S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000024786
Gene: ENSMUSG00000023990
AA Change: F43S
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000140715
|
| 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: 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162719
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb4 |
T |
C |
6: 5,423,416 |
S188P |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,666,971 |
|
probably benign |
Het |
| Ccdc36 |
T |
C |
9: 108,404,900 |
S530G |
possibly damaging |
Het |
| Cdh13 |
G |
T |
8: 119,314,134 |
G693W |
probably damaging |
Het |
| Cdh7 |
T |
A |
1: 110,108,768 |
Y559* |
probably null |
Het |
| Cemip |
G |
A |
7: 83,987,330 |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,273,415 |
|
probably benign |
Het |
| Crygf |
A |
G |
1: 65,928,170 |
Y151C |
probably damaging |
Het |
| Dcp1b |
T |
C |
6: 119,180,058 |
|
probably benign |
Het |
| Fanca |
A |
G |
8: 123,316,459 |
|
probably benign |
Het |
| Fkbp15 |
A |
C |
4: 62,303,267 |
|
probably benign |
Het |
| Gabrp |
C |
T |
11: 33,552,616 |
R416Q |
probably benign |
Het |
| Gm13103 |
A |
T |
4: 143,851,919 |
T250S |
possibly damaging |
Het |
| Impg2 |
T |
A |
16: 56,268,268 |
Y1052* |
probably null |
Het |
| Isg15 |
T |
C |
4: 156,199,862 |
M70V |
probably benign |
Het |
| Krit1 |
T |
A |
5: 3,811,248 |
|
probably benign |
Het |
| Lrrn3 |
T |
C |
12: 41,454,147 |
D57G |
probably damaging |
Het |
| Macrod1 |
A |
G |
19: 7,197,572 |
E309G |
possibly damaging |
Het |
| Notch1 |
A |
T |
2: 26,477,874 |
|
probably benign |
Het |
| Nptx1 |
T |
C |
11: 119,544,729 |
T254A |
probably damaging |
Het |
| Olfr1121 |
A |
T |
2: 87,372,123 |
D197V |
probably damaging |
Het |
| Pigm |
A |
G |
1: 172,376,853 |
Y52C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 52,112,599 |
T2022A |
probably benign |
Het |
| Rint1 |
T |
A |
5: 23,817,078 |
L646Q |
probably damaging |
Het |
| Rpe65 |
A |
T |
3: 159,604,341 |
I84F |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,705,081 |
C65S |
probably damaging |
Het |
| Scnn1a |
T |
C |
6: 125,342,781 |
|
probably benign |
Het |
| Selenop |
T |
C |
15: 3,280,622 |
|
probably benign |
Het |
| Siglecf |
T |
G |
7: 43,355,930 |
V438G |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,653,774 |
|
probably benign |
Het |
| Tgm6 |
A |
G |
2: 130,138,931 |
Y216C |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,354,220 |
V10E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,898,467 |
C1234* |
probably null |
Het |
| Ugt2a3 |
G |
A |
5: 87,336,580 |
P195L |
probably damaging |
Het |
| Usp24 |
T |
G |
4: 106,380,430 |
I1095R |
probably damaging |
Het |
| Usp34 |
C |
T |
11: 23,354,897 |
H377Y |
probably damaging |
Het |
|
| Other mutations in Tfeb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Tfeb
|
APN |
17 |
47791664 |
missense |
probably benign |
0.10 |
|
IGL03248:Tfeb
|
APN |
17 |
47786995 |
missense |
probably benign |
|
|
FR4304:Tfeb
|
UTSW |
17 |
47786094 |
small insertion |
probably benign |
|
|
FR4976:Tfeb
|
UTSW |
17 |
47786094 |
small insertion |
probably benign |
|
|
R0414:Tfeb
|
UTSW |
17 |
47788299 |
splice site |
probably null |
|
|
R1712:Tfeb
|
UTSW |
17 |
47788986 |
critical splice donor site |
probably null |
|
|
R2014:Tfeb
|
UTSW |
17 |
47791559 |
missense |
probably damaging |
0.97 |
|
R2101:Tfeb
|
UTSW |
17 |
47789665 |
missense |
probably damaging |
1.00 |
|
R4283:Tfeb
|
UTSW |
17 |
47789774 |
missense |
probably damaging |
1.00 |
|
R4734:Tfeb
|
UTSW |
17 |
47785862 |
missense |
probably benign |
0.33 |
|
R4785:Tfeb
|
UTSW |
17 |
47788227 |
splice site |
probably null |
|
|
R4948:Tfeb
|
UTSW |
17 |
47785979 |
missense |
probably benign |
0.00 |
|
R5896:Tfeb
|
UTSW |
17 |
47759508 |
critical splice donor site |
probably null |
|
|
R6522:Tfeb
|
UTSW |
17 |
47789702 |
missense |
probably damaging |
1.00 |
|
R6804:Tfeb
|
UTSW |
17 |
47789810 |
critical splice donor site |
probably null |
|
|
R6836:Tfeb
|
UTSW |
17 |
47786198 |
critical splice donor site |
probably null |
|
|
R6923:Tfeb
|
UTSW |
17 |
47786983 |
missense |
probably benign |
0.11 |
|
RF002:Tfeb
|
UTSW |
17 |
47786102 |
small insertion |
probably benign |
|
|
RF003:Tfeb
|
UTSW |
17 |
47788078 |
missense |
possibly damaging |
0.86 |
|
RF006:Tfeb
|
UTSW |
17 |
47786113 |
small insertion |
probably benign |
|
|
RF008:Tfeb
|
UTSW |
17 |
47786102 |
small insertion |
probably benign |
|
|
RF010:Tfeb
|
UTSW |
17 |
47786094 |
small insertion |
probably benign |
|
|
RF010:Tfeb
|
UTSW |
17 |
47786107 |
small insertion |
probably benign |
|
|
RF018:Tfeb
|
UTSW |
17 |
47786095 |
small insertion |
probably benign |
|
|
RF022:Tfeb
|
UTSW |
17 |
47786094 |
small insertion |
probably benign |
|
|
RF025:Tfeb
|
UTSW |
17 |
47786088 |
small insertion |
probably benign |
|
|
RF028:Tfeb
|
UTSW |
17 |
47786097 |
small insertion |
probably benign |
|
|
RF030:Tfeb
|
UTSW |
17 |
47786111 |
small insertion |
probably benign |
|
|
RF030:Tfeb
|
UTSW |
17 |
47786112 |
small insertion |
probably benign |
|
|
RF030:Tfeb
|
UTSW |
17 |
47786113 |
small insertion |
probably benign |
|
|
RF034:Tfeb
|
UTSW |
17 |
47786097 |
small insertion |
probably benign |
|
|
RF034:Tfeb
|
UTSW |
17 |
47786098 |
nonsense |
probably null |
|
|
RF035:Tfeb
|
UTSW |
17 |
47786111 |
small insertion |
probably benign |
|
|
RF036:Tfeb
|
UTSW |
17 |
47786103 |
small insertion |
probably benign |
|
|
RF038:Tfeb
|
UTSW |
17 |
47786105 |
small insertion |
probably benign |
|
|
RF038:Tfeb
|
UTSW |
17 |
47786112 |
small insertion |
probably benign |
|
|
RF039:Tfeb
|
UTSW |
17 |
47786095 |
small insertion |
probably benign |
|
|
RF039:Tfeb
|
UTSW |
17 |
47786110 |
nonsense |
probably null |
|
|
RF040:Tfeb
|
UTSW |
17 |
47786097 |
small insertion |
probably benign |
|
|
RF040:Tfeb
|
UTSW |
17 |
47786110 |
small insertion |
probably benign |
|
|
RF040:Tfeb
|
UTSW |
17 |
47786111 |
small insertion |
probably benign |
|
|
RF040:Tfeb
|
UTSW |
17 |
47786112 |
small insertion |
probably benign |
|
|
RF041:Tfeb
|
UTSW |
17 |
47786100 |
small insertion |
probably benign |
|
|
RF042:Tfeb
|
UTSW |
17 |
47786097 |
small insertion |
probably benign |
|
|
RF047:Tfeb
|
UTSW |
17 |
47786106 |
small insertion |
probably benign |
|
|
RF047:Tfeb
|
UTSW |
17 |
47786116 |
small insertion |
probably benign |
|
|
RF053:Tfeb
|
UTSW |
17 |
47786114 |
small insertion |
probably benign |
|
|
RF054:Tfeb
|
UTSW |
17 |
47786098 |
nonsense |
probably null |
|
|
RF060:Tfeb
|
UTSW |
17 |
47786106 |
small insertion |
probably benign |
|
|
RF061:Tfeb
|
UTSW |
17 |
47786092 |
small insertion |
probably benign |
|
|
RF062:Tfeb
|
UTSW |
17 |
47786100 |
small insertion |
probably benign |
|
|
Z1177:Tfeb
|
UTSW |
17 |
47786524 |
nonsense |
probably null |
|
|
Z1177:Tfeb
|
UTSW |
17 |
47791644 |
missense |
possibly damaging |
0.74 |
|
| Posted On |
2016-08-02 |
Incidental Mutation