Incidental Mutation 'R1712:Tfeb'
ID |
190719 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tfeb
|
Ensembl Gene |
ENSMUSG00000023990 |
Gene Name |
transcription factor EB |
Synonyms |
Tcfeb, TFEB, bHLHe35 |
MMRRC Submission |
039745-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1712 (G1)
|
Quality Score |
225 |
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 48099911 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]
[ENSMUST00000146782]
[ENSMUST00000126258]
[ENSMUST00000130208]
[ENSMUST00000141631]
[ENSMUST00000160373]
[ENSMUST00000159641]
[ENSMUST00000137845]
|
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 null
Transcript: ENSMUST00000113284
AA Change: *268R
|
SMART Domains |
Protein: ENSMUSP00000108909 Gene: ENSMUSG00000023990 AA Change: *268R
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 |
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 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 |
noncoding transcript
Transcript: ENSMUST00000140715
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162719
|
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: 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 |
probably benign
Transcript: ENSMUST00000137845
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
T |
A |
2: 93,678,448 (GRCm39) |
E12D |
probably damaging |
Het |
Ahnak2 |
C |
A |
12: 112,748,998 (GRCm39) |
R283L |
probably benign |
Het |
BC005624 |
T |
C |
2: 30,864,020 (GRCm39) |
E191G |
probably damaging |
Het |
C1galt1 |
A |
G |
6: 7,871,217 (GRCm39) |
N351S |
probably benign |
Het |
Ccdc162 |
T |
C |
10: 41,415,427 (GRCm39) |
R2179G |
probably benign |
Het |
Ccdc88c |
G |
A |
12: 100,905,284 (GRCm39) |
T1108M |
probably benign |
Het |
Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
Cdc40 |
T |
C |
10: 40,717,372 (GRCm39) |
K440E |
probably damaging |
Het |
Cenpe |
G |
A |
3: 134,971,694 (GRCm39) |
V2262I |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,390,361 (GRCm39) |
K2035E |
probably benign |
Het |
Cks1brt |
G |
T |
8: 85,898,172 (GRCm39) |
L8F |
probably benign |
Het |
Col17a1 |
T |
C |
19: 47,637,442 (GRCm39) |
|
probably benign |
Het |
Coro6 |
A |
T |
11: 77,360,293 (GRCm39) |
N421I |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
Csrnp3 |
G |
T |
2: 65,832,826 (GRCm39) |
A110S |
probably damaging |
Het |
Cyp2d10 |
G |
T |
15: 82,287,240 (GRCm39) |
T461K |
probably damaging |
Het |
Dmxl2 |
A |
G |
9: 54,308,769 (GRCm39) |
V1994A |
probably benign |
Het |
Dnah11 |
T |
A |
12: 118,160,379 (GRCm39) |
N117I |
probably benign |
Het |
Dnajc3 |
A |
G |
14: 119,195,307 (GRCm39) |
Y74C |
probably damaging |
Het |
Fam13c |
T |
A |
10: 70,390,403 (GRCm39) |
F555I |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
Fbrsl1 |
T |
C |
5: 110,595,862 (GRCm39) |
T58A |
probably benign |
Het |
Gjd3 |
A |
G |
11: 102,691,706 (GRCm39) |
I99T |
possibly damaging |
Het |
Glce |
T |
C |
9: 61,977,857 (GRCm39) |
N9S |
probably damaging |
Het |
Gosr1 |
T |
C |
11: 76,641,704 (GRCm39) |
T125A |
possibly damaging |
Het |
Ifi27l2a |
T |
A |
12: 103,406,202 (GRCm39) |
|
probably null |
Het |
Jph1 |
C |
T |
1: 17,167,456 (GRCm39) |
D125N |
possibly damaging |
Het |
Kbtbd12 |
A |
T |
6: 88,595,676 (GRCm39) |
S51R |
probably damaging |
Het |
Klra9 |
A |
T |
6: 130,166,659 (GRCm39) |
|
probably null |
Het |
Kmo |
A |
T |
1: 175,484,289 (GRCm39) |
M340L |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,024,181 (GRCm39) |
I93T |
possibly damaging |
Het |
Limk2 |
A |
T |
11: 3,308,104 (GRCm39) |
|
probably null |
Het |
Mgat5 |
C |
A |
1: 127,248,375 (GRCm39) |
N92K |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,739,256 (GRCm39) |
I908F |
probably damaging |
Het |
Mical1 |
T |
G |
10: 41,356,359 (GRCm39) |
L304R |
probably damaging |
Het |
Mtbp |
G |
T |
15: 55,434,690 (GRCm39) |
|
probably null |
Het |
Myo3a |
T |
C |
2: 22,455,004 (GRCm39) |
Y70H |
probably damaging |
Het |
Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
Neurod2 |
G |
T |
11: 98,218,029 (GRCm39) |
N378K |
probably damaging |
Het |
Oog4 |
G |
A |
4: 143,166,484 (GRCm39) |
L107F |
probably damaging |
Het |
Or2g25 |
A |
G |
17: 37,970,799 (GRCm39) |
S142P |
probably benign |
Het |
Or4k40 |
T |
A |
2: 111,251,003 (GRCm39) |
M98L |
probably benign |
Het |
Or6x1 |
A |
G |
9: 40,099,161 (GRCm39) |
Y250C |
probably damaging |
Het |
Or8k20 |
T |
A |
2: 86,106,337 (GRCm39) |
T165S |
probably damaging |
Het |
Pfdn6 |
T |
C |
17: 34,158,528 (GRCm39) |
Y82C |
probably damaging |
Het |
Pla2g4d |
C |
A |
2: 120,107,971 (GRCm39) |
A313S |
possibly damaging |
Het |
Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
Rai1 |
A |
G |
11: 60,078,428 (GRCm39) |
T831A |
probably benign |
Het |
Rims1 |
G |
A |
1: 22,367,172 (GRCm39) |
T1176M |
probably damaging |
Het |
Rin1 |
A |
C |
19: 5,105,171 (GRCm39) |
I744L |
probably benign |
Het |
Rora |
T |
A |
9: 69,282,771 (GRCm39) |
S430T |
probably benign |
Het |
Rsph10b |
T |
A |
5: 143,873,967 (GRCm39) |
S23T |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,746,928 (GRCm39) |
N3773S |
probably benign |
Het |
Scn4a |
A |
G |
11: 106,230,180 (GRCm39) |
Y543H |
probably damaging |
Het |
Scn4a |
C |
A |
11: 106,236,373 (GRCm39) |
G296C |
probably benign |
Het |
Scn7a |
T |
C |
2: 66,535,447 (GRCm39) |
T435A |
probably benign |
Het |
Shank2 |
G |
T |
7: 143,964,890 (GRCm39) |
D833Y |
probably damaging |
Het |
Slc9a2 |
T |
C |
1: 40,802,770 (GRCm39) |
S607P |
possibly damaging |
Het |
Slx4 |
G |
A |
16: 3,809,458 (GRCm39) |
R346W |
probably damaging |
Het |
Spata20 |
A |
T |
11: 94,371,340 (GRCm39) |
C675S |
probably benign |
Het |
Suclg2 |
A |
T |
6: 95,563,997 (GRCm39) |
I196N |
probably damaging |
Het |
Sv2b |
G |
A |
7: 74,798,807 (GRCm39) |
H272Y |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,070,629 (GRCm39) |
I2386V |
probably benign |
Het |
Taf13 |
A |
T |
3: 108,488,445 (GRCm39) |
E109D |
possibly damaging |
Het |
Tanc2 |
A |
G |
11: 105,790,606 (GRCm39) |
T976A |
probably benign |
Het |
Tax1bp1 |
A |
G |
6: 52,706,311 (GRCm39) |
Y104C |
probably damaging |
Het |
Tlr9 |
T |
C |
9: 106,101,248 (GRCm39) |
Y180H |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Ttc12 |
T |
A |
9: 49,356,499 (GRCm39) |
T510S |
probably benign |
Het |
Ubqln1 |
T |
C |
13: 58,339,895 (GRCm39) |
E280G |
probably damaging |
Het |
Urm1 |
T |
C |
2: 29,731,437 (GRCm39) |
W44R |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,933,406 (GRCm39) |
I34N |
probably benign |
Het |
Vars1 |
T |
C |
17: 35,233,728 (GRCm39) |
L1018P |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,869,894 (GRCm39) |
V206D |
probably damaging |
Het |
Vim |
T |
C |
2: 13,583,270 (GRCm39) |
V224A |
probably damaging |
Het |
Vmn2r106 |
G |
T |
17: 20,498,997 (GRCm39) |
H305N |
probably benign |
Het |
Vmn2r78 |
A |
G |
7: 86,604,132 (GRCm39) |
N770S |
probably damaging |
Het |
Wdr33 |
T |
A |
18: 32,029,684 (GRCm39) |
L961Q |
unknown |
Het |
Xylt2 |
A |
G |
11: 94,559,575 (GRCm39) |
S356P |
possibly damaging |
Het |
Zbtb14 |
A |
G |
17: 69,694,575 (GRCm39) |
N91S |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,858,654 (GRCm39) |
L895S |
probably damaging |
Het |
Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
Zfp131 |
T |
C |
13: 120,228,079 (GRCm39) |
T523A |
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 |
|
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 |
|
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'- TGATTAGATTGCACCCAGACCCTCC -3'
(R):5'- GCTGCTGCCCTTAACAACTGAGAG -3'
Sequencing Primer
(F):5'- acctgcctcccaagcac -3'
(R):5'- CCCTTAGCAACTGAGAGGTG -3'
|
Posted On |
2014-05-14 |