Incidental Mutation 'R6923:Tfeb'
| ID |
539756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfeb
|
| Ensembl Gene |
ENSMUSG00000023990 |
| Gene Name |
transcription factor EB |
| Synonyms |
Tcfeb, TFEB, bHLHe35 |
| MMRRC Submission |
045381-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6923 (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 A
at 48097908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 232
(I232N)
|
| 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: I232N
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000024786
Gene: ENSMUSG00000023990
AA Change: I232N
| 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
AA Change: I173N
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000084151
Gene: ENSMUSG00000023990
AA Change: I173N
| 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
AA Change: I173N
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108909
Gene: ENSMUSG00000023990
AA Change: I173N
| 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
AA Change: I173N
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000108913
Gene: ENSMUSG00000023990
AA Change: I173N
| 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 benign
Transcript: ENSMUST00000146782
AA Change: I32N
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000120311
Gene: ENSMUSG00000023990
AA Change: I32N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Albfm1 |
A |
G |
5: 90,725,652 (GRCm39) |
N288S |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,719,530 (GRCm39) |
D81E |
probably benign |
Het |
| Atg16l1 |
A |
T |
1: 87,702,078 (GRCm39) |
|
probably null |
Het |
| Atp11a |
A |
G |
8: 12,906,949 (GRCm39) |
T459A |
probably damaging |
Het |
| Bloc1s5 |
T |
A |
13: 38,815,040 (GRCm39) |
I40F |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,165,452 (GRCm39) |
S1323T |
possibly damaging |
Het |
| Capn5 |
T |
A |
7: 97,778,461 (GRCm39) |
Q386L |
probably damaging |
Het |
| Cbfa2t2 |
C |
T |
2: 154,376,903 (GRCm39) |
H529Y |
probably damaging |
Het |
| Cd3d |
T |
C |
9: 44,897,157 (GRCm39) |
|
probably benign |
Het |
| Cenpa |
A |
G |
5: 30,829,806 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
T |
1: 134,077,163 (GRCm39) |
Y322F |
probably null |
Het |
| Cntnap5c |
T |
A |
17: 58,399,345 (GRCm39) |
N399K |
possibly damaging |
Het |
| Dock8 |
A |
T |
19: 25,072,970 (GRCm39) |
T417S |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,814,454 (GRCm39) |
|
probably null |
Het |
| Fkbp2 |
A |
G |
19: 6,956,537 (GRCm39) |
|
|
Het |
| Fsip1 |
G |
A |
2: 118,080,394 (GRCm39) |
R121C |
probably benign |
Het |
| Gbp2b |
T |
C |
3: 142,306,320 (GRCm39) |
I131T |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,658,053 (GRCm39) |
N39D |
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,616 (GRCm39) |
R369G |
probably damaging |
Het |
| Gpatch3 |
C |
T |
4: 133,309,836 (GRCm39) |
L390F |
probably damaging |
Het |
| Gpd2 |
G |
A |
2: 57,245,800 (GRCm39) |
M443I |
probably damaging |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,343 (GRCm39) |
T445A |
possibly damaging |
Het |
| Jph3 |
A |
G |
8: 122,480,110 (GRCm39) |
T263A |
possibly damaging |
Het |
| Me3 |
C |
A |
7: 89,495,093 (GRCm39) |
A337E |
probably damaging |
Het |
| Mndal |
A |
C |
1: 173,712,264 (GRCm39) |
|
probably null |
Het |
| Msantd5l |
C |
T |
11: 51,144,808 (GRCm39) |
D158N |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,217,453 (GRCm39) |
E2342K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,076,076 (GRCm39) |
V5659A |
probably damaging |
Het |
| Nkapd1 |
T |
A |
9: 50,521,610 (GRCm39) |
I104L |
probably benign |
Het |
| Nrxn1 |
G |
A |
17: 91,395,661 (GRCm39) |
A165V |
probably benign |
Het |
| Or5b94 |
T |
A |
19: 12,652,409 (GRCm39) |
I280N |
possibly damaging |
Het |
| Or5b97 |
T |
C |
19: 12,878,676 (GRCm39) |
N156S |
probably benign |
Het |
| Orc2 |
A |
G |
1: 58,539,534 (GRCm39) |
L35S |
probably benign |
Het |
| Pax4 |
A |
G |
6: 28,447,118 (GRCm39) |
|
probably null |
Het |
| Pcdhb7 |
C |
T |
18: 37,475,522 (GRCm39) |
|
probably null |
Het |
| Pla2r1 |
C |
T |
2: 60,345,310 (GRCm39) |
E349K |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,626,787 (GRCm39) |
A1516T |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,676 (GRCm39) |
I89N |
probably benign |
Het |
| Prpf38a |
G |
T |
4: 108,427,401 (GRCm39) |
D187E |
possibly damaging |
Het |
| Rdh16f1 |
T |
A |
10: 127,624,737 (GRCm39) |
|
probably null |
Het |
| S100z |
T |
A |
13: 95,615,090 (GRCm39) |
D25V |
probably damaging |
Het |
| Scamp2 |
T |
G |
9: 57,488,895 (GRCm39) |
F199V |
probably damaging |
Het |
| Semp2l2b |
C |
A |
10: 21,943,654 (GRCm39) |
G109C |
probably damaging |
Het |
| Senp2 |
T |
G |
16: 21,830,326 (GRCm39) |
|
probably benign |
Het |
| Sltm |
T |
A |
9: 70,481,892 (GRCm39) |
S365T |
probably damaging |
Het |
| Smg6 |
C |
G |
11: 74,820,169 (GRCm39) |
P147A |
possibly damaging |
Het |
| Spem2 |
T |
A |
11: 69,708,603 (GRCm39) |
R121W |
probably damaging |
Het |
| Sufu |
A |
G |
19: 46,439,405 (GRCm39) |
|
probably null |
Het |
| Syt2 |
T |
C |
1: 134,674,501 (GRCm39) |
V313A |
possibly damaging |
Het |
| Tet2 |
C |
T |
3: 133,185,102 (GRCm39) |
|
probably null |
Het |
| Ticrr |
T |
G |
7: 79,341,601 (GRCm39) |
I1062M |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vrk2 |
G |
A |
11: 26,439,893 (GRCm39) |
A226V |
probably damaging |
Het |
| Wnk1 |
A |
T |
6: 119,942,639 (GRCm39) |
|
probably benign |
Het |
| Xpo4 |
G |
T |
14: 57,841,168 (GRCm39) |
T505K |
probably benign |
Het |
| Yy1 |
A |
T |
12: 108,759,594 (GRCm39) |
I86F |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,487,400 (GRCm39) |
D73G |
possibly 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 |
|
|
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 |
|
|
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'- GTCAAGAACTCCCTGTCAAGG -3'
(R):5'- ACTTGCACCCTGAATCCCTG -3'
Sequencing Primer
(F):5'- ATTCCTGGGGACAAGCCTC -3'
(R):5'- CCCTGTCACAGTATTCAATGGAG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation