Incidental Mutation 'RF002:Tfeb'
| ID |
602589 |
| 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 # |
RF002 (G1)
|
| Quality Score |
161.468 |
|
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 AGCGGC
at 48097027 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: 99.9%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,475,263 (GRCm39) |
|
probably benign |
Het |
| Angptl1 |
A |
T |
1: 156,684,794 (GRCm39) |
Q321L |
possibly damaging |
Het |
| AY358078 |
T |
TAGGATAATGC |
14: 52,043,050 (GRCm39) |
|
probably null |
Het |
| Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably benign |
Het |
| Blm |
CTC |
CTCATCCTCCTCATC |
7: 80,162,675 (GRCm39) |
|
probably benign |
Het |
| Car13 |
T |
C |
3: 14,719,974 (GRCm39) |
Y129H |
probably damaging |
Het |
| Cd109 |
TTATTTATTTAT |
TTATTTATTTATGTATTTATTTAT |
9: 78,619,805 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
TATTTAT |
TATTTATTTATTCATTTAT |
9: 78,619,810 (GRCm39) |
|
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,108,424 (GRCm39) |
C341R |
probably damaging |
Het |
| Chga |
GCA |
GCACCA |
12: 102,527,680 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
T |
3: 114,010,650 (GRCm39) |
I1689L |
unknown |
Het |
| Dnah6 |
T |
G |
6: 73,078,872 (GRCm39) |
S2364R |
probably benign |
Het |
| E4f1 |
CCG |
CCGACG |
17: 24,674,160 (GRCm39) |
|
probably benign |
Het |
| Fah |
A |
C |
7: 84,238,836 (GRCm39) |
N336K |
probably damaging |
Het |
| Fbxo11 |
A |
T |
17: 88,303,481 (GRCm39) |
I664K |
|
Het |
| Fcgbp |
A |
G |
7: 27,789,180 (GRCm39) |
D582G |
probably benign |
Het |
| Gabre |
C |
CCGGCTA |
X: 71,313,663 (GRCm39) |
|
probably null |
Het |
| Garin5a |
CCTGGGTCTGAGGGAGGA |
CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA |
7: 44,149,944 (GRCm39) |
|
probably null |
Het |
| Gm1110 |
A |
G |
9: 26,831,936 (GRCm39) |
Y72H |
probably damaging |
Het |
| Inpp5e |
C |
T |
2: 26,298,389 (GRCm39) |
A71T |
possibly damaging |
Het |
| Iqcm |
C |
T |
8: 76,304,527 (GRCm39) |
T96I |
probably benign |
Het |
| Lce1m |
TGCCACCGCTGC |
TGCCACCGCTGCCGCCACCGCTGC |
3: 92,925,590 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
AC |
ACCGCCGCTGCCCC |
3: 92,925,606 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
| Lyst |
A |
G |
13: 13,808,948 (GRCm39) |
D206G |
probably benign |
Het |
| Map4k5 |
A |
T |
12: 69,903,630 (GRCm39) |
D58E |
probably damaging |
Het |
| Mapkapk2 |
A |
G |
1: 130,984,250 (GRCm39) |
S251P |
probably damaging |
Het |
| Mcph1 |
CCTG |
CCTGCTG |
8: 18,702,545 (GRCm39) |
|
probably benign |
Het |
| Men1 |
T |
C |
19: 6,390,146 (GRCm39) |
S600P |
probably damaging |
Het |
| Mllt1 |
C |
T |
17: 57,203,300 (GRCm39) |
V394M |
probably benign |
Het |
| Mllt1 |
C |
A |
17: 57,203,301 (GRCm39) |
M393I |
possibly damaging |
Het |
| Nacc1 |
T |
C |
8: 85,402,848 (GRCm39) |
E315G |
possibly damaging |
Het |
| Nefh |
GGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTAGGGACTTGGCCTC |
11: 4,891,047 (GRCm39) |
|
probably benign |
Het |
| Nefh |
GACTTGGCCTC |
GACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,050 (GRCm39) |
|
probably benign |
Het |
| Nid2 |
TAACACCGCCA |
TA |
14: 19,801,434 (GRCm39) |
|
probably benign |
Het |
| Or5b122 |
T |
A |
19: 13,563,415 (GRCm39) |
I206N |
probably damaging |
Het |
| Parp2 |
A |
G |
14: 51,054,843 (GRCm39) |
E262G |
probably damaging |
Het |
| Pdik1l |
TTT |
TTTGTTTTTGTGTT |
4: 134,006,686 (GRCm39) |
|
probably null |
Het |
| Pop1 |
G |
A |
15: 34,502,583 (GRCm39) |
G90D |
probably damaging |
Het |
| Ppp3cc |
T |
C |
14: 70,504,788 (GRCm39) |
T73A |
possibly damaging |
Het |
| Prdm15 |
C |
T |
16: 97,600,829 (GRCm39) |
D810N |
probably damaging |
Het |
| Prpf4b |
T |
A |
13: 35,068,219 (GRCm39) |
S349R |
unknown |
Het |
| Rassf6 |
TCCTGTAGAGCAATGGGGATTC |
TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC |
5: 90,756,780 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
GTAGAGCAATGGGGATTC |
GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC |
5: 90,756,784 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,776,078 (GRCm39) |
E208G |
probably benign |
Het |
| Smurf2 |
G |
T |
11: 106,743,413 (GRCm39) |
P211Q |
probably benign |
Het |
| Snx25 |
C |
A |
8: 46,569,218 (GRCm39) |
|
probably null |
Het |
| Spata6 |
T |
A |
4: 111,685,502 (GRCm39) |
M469K |
probably benign |
Het |
| Spta1 |
G |
T |
1: 174,058,926 (GRCm39) |
A1954S |
possibly damaging |
Het |
| Sry |
CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG |
CTGGTCATGGAACTGCTG |
Y: 2,662,564 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GAG |
GAGTAG |
X: 98,110,121 (GRCm39) |
|
probably null |
Het |
| Tlcd1 |
T |
A |
11: 78,071,020 (GRCm39) |
L203Q |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,598,682 (GRCm39) |
F223L |
possibly damaging |
Het |
| Usp48 |
T |
A |
4: 137,333,106 (GRCm39) |
V100D |
probably damaging |
Het |
| Vinac1 |
A |
G |
2: 128,880,714 (GRCm39) |
F404S |
|
Het |
| Vmn2r56 |
G |
A |
7: 12,428,757 (GRCm39) |
T503I |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,127,871 (GRCm39) |
L898P |
probably damaging |
Het |
| Zfp384 |
GCCCAGGCCCAGGCCCAGGCCCAG |
GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG |
6: 125,013,434 (GRCm39) |
|
probably benign |
Het |
| Zfp706 |
T |
A |
15: 37,003,949 (GRCm39) |
Y39F |
probably benign |
Het |
| Zhx3 |
T |
A |
2: 160,623,726 (GRCm39) |
N147I |
probably 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 |
|
|
R6923:Tfeb
|
UTSW |
17 |
48,097,908 (GRCm39) |
missense |
probably benign |
0.11 |
|
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'- AATACTTCATGGGCCTGTCTCC -3'
(R):5'- GAACCTTCTGATGCTGGGACTG -3'
Sequencing Primer
(F):5'- TCTCCCCTCGACTACAGGGAG -3'
(R):5'- TTCTCCAGGTAGGACTGCAC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation