Incidental Mutation 'RF042:Tfeb'
| ID |
604887 |
| 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 # |
RF042 (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 GCACCA
at 48097022 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]
[ENSMUST00000130208]
[ENSMUST00000137845]
[ENSMUST00000141631]
[ENSMUST00000146782]
[ENSMUST00000159641]
[ENSMUST00000160373]
|
| 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 |
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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.8%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG |
6: 131,529,849 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
GCTGCTG |
GCTGCTGTGACTGCTG |
1: 82,891,305 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,245 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
| Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
TTCTC |
TTC |
17: 46,851,541 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
GGGGCGGAGCACAGTTCCTACCTCGTT |
GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,415 (GRCm39) |
|
probably null |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTACT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,628 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
TGTG |
TGTGAGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
| Igkv12-89 |
G |
GCAACGCCAT |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTTCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT |
9: 106,447,804 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACAG |
CCACAGACACAG |
1: 83,019,846 (GRCm39) |
|
probably benign |
Het |
| Las1l |
CTTCCT |
CTTCCTTTTCCT |
X: 94,984,226 (GRCm39) |
|
probably benign |
Het |
| Lca5l |
GCCCTGGCCCTGGCCCC |
GCCC |
16: 95,960,497 (GRCm39) |
|
probably null |
Het |
| Lce1m |
CACTGCTGCTGC |
CACTGCTGCTGCAACTGCTGCTGC |
3: 92,925,446 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
A |
AGCC |
X: 70,162,459 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
| Opa3 |
GCGGGC |
GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC |
7: 18,989,594 (GRCm39) |
|
probably benign |
Het |
| Pdia4 |
CTCTTCCTCCT |
C |
6: 47,785,240 (GRCm39) |
|
probably null |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
| Sbp |
AAGA |
AAGACGCTGACAACAGAGA |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
| Sfswap |
CTCGGCCCA |
CTCGGCCCAGTCGGCCCA |
5: 129,646,807 (GRCm39) |
|
probably benign |
Het |
| Slc39a4 |
TC |
TCATCATGATCACCATGGTCACCATGATCACTGTGGCC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
| Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
GC |
GCCACAGCAAC |
8: 109,682,720 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAAAAGCAGCA |
8: 109,682,730 (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 |
|
|
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 |
48,097,038 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Tfeb
|
UTSW |
17 |
48,097,037 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Tfeb
|
UTSW |
17 |
48,097,036 (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 |
|
|
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'- TGAATACTTCATGGGCCTGTC -3'
(R):5'- CAGATACTCCCGAACCTTCTG -3'
Sequencing Primer
(F):5'- TCTCCCCTCGACTACAGGGAG -3'
(R):5'- AACCTTCTGATGCTGGGAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation