Incidental Mutation 'RF062:Tfeb'
ID | 605445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tfeb
|
Ensembl Gene |
ENSMUSG00000023990 |
Gene Name | transcription factor EB |
Synonyms | bHLHe35, TFEB, Tcfeb |
Accession Numbers | |
Is this an essential gene? |
Essential (E-score: 1.000)
|
Stock # | RF062 (G1)
|
Quality Score | 133.467 |
Status |
Not validated
|
Chromosome | 17 |
Chromosomal Location | 47737030-47792419 bp(+) (GRCm38) |
Type of Mutation | small insertion (1 aa in frame mutation) |
DNA Base Change (assembly) |
GCA to GCATCA
at 47786100 bp
|
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]
|
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: 99.6%
- 10x: 99.3%
- 20x: 98.6%
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc2 |
GTGGCGGCGGCGGC |
G |
2: 25,272,537 |
|
probably null |
Het |
Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,560,918 |
|
probably benign |
Het |
Cckbr |
CAG |
C |
7: 105,434,687 |
|
probably null |
Het |
Defb22 |
TGGCCT |
TGGCCTCTGCGGCAGAGCCGGCCT |
2: 152,485,825 |
|
probably benign |
Het |
Dmkn |
GGTGGAAGTGGTGGAAGTGGTGGAAGT |
GGTGGAAGTGGTGGAAGTGGTGGAAGTCGTGGAAGTGGTGGAAGTGGTGGAAGT |
7: 30,767,175 |
|
probably benign |
Het |
Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,874,755 |
|
probably benign |
Het |
Efhd2 |
CC |
CCGCCGAC |
4: 141,874,774 |
|
probably benign |
Het |
Fsip2 |
TTTT |
TTTTGTTT |
2: 82,984,363 |
|
probably benign |
Het |
Gm11060 |
CTGTGTG |
CTG |
2: 105,092,040 |
|
probably null |
Het |
Gm5591 |
GC |
G |
7: 38,522,335 |
|
probably null |
Het |
Krt10 |
CGCC |
CGCCGCC |
11: 99,386,199 |
|
probably benign |
Het |
Krt10 |
ACCACCGCC |
ACCACCGCCACCGCC |
11: 99,389,264 |
|
probably benign |
Het |
Nefh |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGGGACTTGGCCTCACCGGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,941,028 |
|
probably benign |
Het |
Nusap1 |
CAAGCTGAGA |
CAAGCTGAGATACACGTTAGCAGTGAGGAGGAAGCTGAGA |
2: 119,627,601 |
|
probably benign |
Het |
Nusap1 |
A |
ATACACGTTAGCAGTGAGGAGCAAGCTGAGG |
2: 119,627,610 |
|
probably benign |
Het |
Rfx4 |
CTCTCTCTCTCTCT |
CTCTCTCTCTCTCTCTATCTCTCTCTCTCT |
10: 84,858,481 |
|
probably benign |
Het |
St5 |
GGGCAGCCCTCACTGA |
G |
7: 109,556,946 |
|
probably benign |
Het |
Tnfaip8 |
ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,046,831 |
|
probably benign |
Het |
Zfp384 |
CCCAGGCCCAGGCCCAGGCCCAGG |
CCCAGGCCCAGGACCAGGCCCAGGCCCAGGCCCAGG |
6: 125,036,466 |
|
probably benign |
Het |
|
Other mutations in Tfeb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Tfeb
|
APN |
17 |
47791664 |
missense |
probably benign |
0.10 |
IGL03248:Tfeb
|
APN |
17 |
47786995 |
missense |
probably benign |
|
IGL03280:Tfeb
|
APN |
17 |
47785937 |
missense |
probably benign |
|
FR4304:Tfeb
|
UTSW |
17 |
47786094 |
small insertion |
probably benign |
|
FR4976:Tfeb
|
UTSW |
17 |
47786094 |
small insertion |
probably benign |
|
R0414:Tfeb
|
UTSW |
17 |
47788299 |
splice site |
probably null |
|
R1712:Tfeb
|
UTSW |
17 |
47788986 |
critical splice donor site |
probably null |
|
R2014:Tfeb
|
UTSW |
17 |
47791559 |
missense |
probably damaging |
0.97 |
R2101:Tfeb
|
UTSW |
17 |
47789665 |
missense |
probably damaging |
1.00 |
R4283:Tfeb
|
UTSW |
17 |
47789774 |
missense |
probably damaging |
1.00 |
R4734:Tfeb
|
UTSW |
17 |
47785862 |
missense |
probably benign |
0.33 |
R4785:Tfeb
|
UTSW |
17 |
47788227 |
splice site |
probably null |
|
R4948:Tfeb
|
UTSW |
17 |
47785979 |
missense |
probably benign |
0.00 |
R5896:Tfeb
|
UTSW |
17 |
47759508 |
critical splice donor site |
probably null |
|
R6522:Tfeb
|
UTSW |
17 |
47789702 |
missense |
probably damaging |
1.00 |
R6804:Tfeb
|
UTSW |
17 |
47789810 |
critical splice donor site |
probably null |
|
R6836:Tfeb
|
UTSW |
17 |
47786198 |
critical splice donor site |
probably null |
|
R6923:Tfeb
|
UTSW |
17 |
47786983 |
missense |
probably benign |
0.11 |
RF002:Tfeb
|
UTSW |
17 |
47786102 |
small insertion |
probably benign |
|
RF003:Tfeb
|
UTSW |
17 |
47788078 |
missense |
possibly damaging |
0.86 |
RF006:Tfeb
|
UTSW |
17 |
47786113 |
small insertion |
probably benign |
|
RF008:Tfeb
|
UTSW |
17 |
47786102 |
small insertion |
probably benign |
|
RF010:Tfeb
|
UTSW |
17 |
47786094 |
small insertion |
probably benign |
|
RF010:Tfeb
|
UTSW |
17 |
47786107 |
small insertion |
probably benign |
|
RF018:Tfeb
|
UTSW |
17 |
47786095 |
small insertion |
probably benign |
|
RF022:Tfeb
|
UTSW |
17 |
47786094 |
small insertion |
probably benign |
|
RF025:Tfeb
|
UTSW |
17 |
47786088 |
small insertion |
probably benign |
|
RF028:Tfeb
|
UTSW |
17 |
47786097 |
small insertion |
probably benign |
|
RF030:Tfeb
|
UTSW |
17 |
47786111 |
small insertion |
probably benign |
|
RF030:Tfeb
|
UTSW |
17 |
47786112 |
small insertion |
probably benign |
|
RF030:Tfeb
|
UTSW |
17 |
47786113 |
small insertion |
probably benign |
|
RF034:Tfeb
|
UTSW |
17 |
47786097 |
small insertion |
probably benign |
|
RF034:Tfeb
|
UTSW |
17 |
47786098 |
nonsense |
probably null |
|
RF035:Tfeb
|
UTSW |
17 |
47786111 |
small insertion |
probably benign |
|
RF036:Tfeb
|
UTSW |
17 |
47786103 |
small insertion |
probably benign |
|
RF038:Tfeb
|
UTSW |
17 |
47786105 |
small insertion |
probably benign |
|
RF038:Tfeb
|
UTSW |
17 |
47786112 |
small insertion |
probably benign |
|
RF039:Tfeb
|
UTSW |
17 |
47786095 |
small insertion |
probably benign |
|
RF039:Tfeb
|
UTSW |
17 |
47786110 |
nonsense |
probably null |
|
RF040:Tfeb
|
UTSW |
17 |
47786097 |
small insertion |
probably benign |
|
RF040:Tfeb
|
UTSW |
17 |
47786110 |
small insertion |
probably benign |
|
RF040:Tfeb
|
UTSW |
17 |
47786111 |
small insertion |
probably benign |
|
RF040:Tfeb
|
UTSW |
17 |
47786112 |
small insertion |
probably benign |
|
RF041:Tfeb
|
UTSW |
17 |
47786100 |
small insertion |
probably benign |
|
RF042:Tfeb
|
UTSW |
17 |
47786097 |
small insertion |
probably benign |
|
RF047:Tfeb
|
UTSW |
17 |
47786106 |
small insertion |
probably benign |
|
RF047:Tfeb
|
UTSW |
17 |
47786116 |
small insertion |
probably benign |
|
RF053:Tfeb
|
UTSW |
17 |
47786114 |
small insertion |
probably benign |
|
RF054:Tfeb
|
UTSW |
17 |
47786098 |
nonsense |
probably null |
|
RF060:Tfeb
|
UTSW |
17 |
47786106 |
small insertion |
probably benign |
|
RF061:Tfeb
|
UTSW |
17 |
47786092 |
small insertion |
probably benign |
|
Z1177:Tfeb
|
UTSW |
17 |
47786524 |
nonsense |
probably null |
|
Z1177:Tfeb
|
UTSW |
17 |
47791644 |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- AATACTTCATGGGCCTGTCTC -3'
(R):5'- GAACCTTCTGATGCTGGGACTG -3'
Sequencing Primer
(F):5'- TCTCCCCTCGACTACAGGGAG -3'
(R):5'- TTCTCCAGGTAGGACTGCAC -3'
|
Posted On | 2019-12-04 |