Incidental Mutation 'RF030:Tfeb'
| ID |
604332 |
| 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 # |
RF030 (G1)
|
| Quality Score |
200.468 |
|
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) |
AGC to AGCCGC
at 48097036 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: 99.5%
- 20x: 99.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GGC |
GGCTGC |
19: 5,475,254 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCCGC |
19: 5,475,263 (GRCm39) |
|
probably benign |
Het |
| Amfr |
GCC |
GCCGGCGCGAGCTCC |
8: 94,738,920 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGCCGGCG |
18: 36,693,966 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGCAGC |
GGCGGCAGCGGCAGC |
18: 36,693,980 (GRCm39) |
|
probably benign |
Het |
| AY761185 |
GGGCACTGTGG |
GGG |
8: 21,433,916 (GRCm39) |
|
probably null |
Het |
| B430218F22Rik |
GG |
GGTCGGCG |
13: 118,523,384 (GRCm39) |
|
probably benign |
Het |
| Calhm1 |
CTGTGGCTGTGGCTGTGGCTGTGG |
CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG |
19: 47,129,692 (GRCm39) |
|
probably benign |
Het |
| Cox7a2l |
GGA |
GGATAGGGA |
17: 83,810,151 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CCTC |
CCTCCTC |
17: 46,811,795 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 86,922,462 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
TGCCCAGGGATGTGACAGACACAC |
TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC |
9: 86,922,468 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GTG |
GTGTTGGAAGTGGTGGAAGTGGTGGAAATG |
7: 30,466,607 (GRCm39) |
|
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eed |
C |
A |
7: 89,604,240 (GRCm39) |
A411S |
probably benign |
Het |
| Fer1l4 |
GGTC |
G |
2: 155,887,449 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
CTTTT |
CT |
X: 74,043,583 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,632 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,631 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTCCT |
X: 74,043,614 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
| Gm5475 |
GAAAGGTGGAAGGAAA |
GAA |
15: 100,325,037 (GRCm39) |
|
probably null |
Het |
| Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,755,850 (GRCm39) |
|
probably null |
Het |
| Gucy1b2 |
CACACACACACACACACTTAC |
CAC |
14: 62,646,090 (GRCm39) |
|
probably benign |
Het |
| Gucy2d |
C |
CTGGGGCCTG |
7: 98,108,241 (GRCm39) |
|
probably benign |
Het |
| Hsdl2 |
CCACAGCTGCAG |
CCACAGCTGCAGCAGCAGACACAGCTGCAG |
4: 59,610,647 (GRCm39) |
|
probably benign |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGTG |
3: 37,179,991 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
ATTG |
ATTGAGCACGTTG |
6: 145,119,514 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Kmt2b |
CTCCTC |
CTCCTCTTCCTC |
7: 30,285,802 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
C |
CGGCTGCTGCCAA |
3: 92,925,448 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
GCTGCCAC |
GCTGCCACAGCAACTTCTGCCAC |
3: 92,925,651 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGTAG |
X: 70,162,434 (GRCm39) |
|
probably null |
Het |
| Map1a |
CAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA |
2: 121,136,792 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA |
2: 121,136,798 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,410 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
| Pdik1l |
C |
CCACCAA |
4: 134,006,827 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
TTTTTTT |
TTTTTTTTTGTTTTTT |
15: 44,421,898 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
TCTCTCTCTCTCTCT |
TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT |
10: 84,694,344 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
TGGTGGTGG |
TGGTGGTGGGGGTGGTGG |
7: 127,384,473 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GGTGGTAGT |
GGTGGTAGTTGTGGTAGT |
7: 127,384,483 (GRCm39) |
|
probably benign |
Het |
| Six5 |
CGGA |
C |
7: 18,828,725 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
AGCGATCCTCCCCAGTCCCGCAAGGCC |
AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC |
5: 77,164,248 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CTGCTGCTGC |
CTGCTGCTGCTGC |
18: 60,968,795 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
CCAGA |
CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA |
18: 60,966,640 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
ATCCCCTTGGC |
ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC |
18: 60,966,646 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
TGGGCTTG |
TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
| Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,593,046 (GRCm39) |
|
probably benign |
Het |
| Tomm5 |
GCATCTTCC |
GCATCTTCCACATCTTCC |
4: 45,107,973 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
TGCTGCT |
TGCTGCTGCTGCTGCGGCTGCT |
15: 72,673,174 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
GGA |
GGACGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
| Wdr97 |
AGGAGGAGG |
AG |
15: 76,247,365 (GRCm39) |
|
probably null |
Het |
| Zfp384 |
GCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAG |
6: 125,013,446 (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 |
|
|
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'- GAATACTTCATGGGCCTGTCTC -3'
(R):5'- AACCTTCTGATGCTGGGACTG -3'
Sequencing Primer
(F):5'- TCTCCCCTCGACTACAGGGAG -3'
(R):5'- TTCTCCAGGTAGGACTGCAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation