Incidental Mutation 'IGL00336:Tfeb'
| ID |
3836 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00336
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
48047962-48103341 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 48102589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 426
(N426K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024786]
[ENSMUST00000086932]
[ENSMUST00000113284]
[ENSMUST00000113288]
[ENSMUST00000146782]
|
| AlphaFold |
Q9R210 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024786
AA Change: N485K
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000024786
Gene: ENSMUSG00000023990
AA Change: N485K
| 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: N426K
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000084151
Gene: ENSMUSG00000023990
AA Change: N426K
| 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
AA Change: N426K
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000108913
Gene: ENSMUSG00000023990
AA Change: N426K
| 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 |
noncoding transcript
Transcript: ENSMUST00000124765
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140715
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146782
AA Change: N285K
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000120311
Gene: ENSMUSG00000023990
AA Change: N285K
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
99 |
152 |
1.44e-15 |
SMART |
|
Pfam:DUF3371
|
179 |
332 |
1.1e-41 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162719
|
| Coding Region Coverage |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,645,366 (GRCm39) |
Y417C |
probably damaging |
Het |
| Adam28 |
T |
A |
14: 68,859,569 (GRCm39) |
H548L |
possibly damaging |
Het |
| Agbl3 |
A |
T |
6: 34,823,771 (GRCm39) |
D812V |
probably damaging |
Het |
| Aopep |
A |
T |
13: 63,163,237 (GRCm39) |
D86V |
possibly damaging |
Het |
| Aox1 |
T |
A |
1: 58,098,203 (GRCm39) |
L305Q |
probably damaging |
Het |
| Arhgef38 |
A |
G |
3: 132,837,812 (GRCm39) |
V706A |
probably benign |
Het |
| Arl15 |
A |
G |
13: 114,291,288 (GRCm39) |
I171V |
probably benign |
Het |
| Cacna1s |
C |
A |
1: 136,012,011 (GRCm39) |
Y237* |
probably null |
Het |
| Ccnt1 |
T |
C |
15: 98,462,990 (GRCm39) |
T61A |
possibly damaging |
Het |
| Col25a1 |
T |
A |
3: 129,975,433 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
A |
8: 11,290,077 (GRCm39) |
|
probably benign |
Het |
| Dcun1d1 |
T |
C |
3: 35,970,455 (GRCm39) |
E130G |
possibly damaging |
Het |
| Dnah7b |
G |
A |
1: 46,181,309 (GRCm39) |
M1065I |
probably benign |
Het |
| Ephb2 |
T |
G |
4: 136,384,795 (GRCm39) |
K872T |
probably damaging |
Het |
| Fga |
G |
A |
3: 82,938,981 (GRCm39) |
G452D |
probably damaging |
Het |
| Flrt1 |
T |
A |
19: 7,074,277 (GRCm39) |
N90I |
probably damaging |
Het |
| Fut10 |
T |
A |
8: 31,685,319 (GRCm39) |
|
probably null |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,549,000 (GRCm39) |
|
probably benign |
Het |
| Gprc5d |
G |
A |
6: 135,093,488 (GRCm39) |
Q140* |
probably null |
Het |
| Ifi27l2b |
T |
C |
12: 103,417,476 (GRCm39) |
K237R |
unknown |
Het |
| Ipo8 |
A |
T |
6: 148,684,284 (GRCm39) |
M836K |
possibly damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Lama1 |
A |
T |
17: 68,120,943 (GRCm39) |
H2693L |
probably benign |
Het |
| Lrrc23 |
A |
G |
6: 124,755,889 (GRCm39) |
W40R |
probably damaging |
Het |
| Minar1 |
T |
C |
9: 89,485,196 (GRCm39) |
D67G |
probably damaging |
Het |
| Morn2 |
C |
A |
17: 80,602,933 (GRCm39) |
|
probably benign |
Het |
| Ms4a6b |
T |
A |
19: 11,506,854 (GRCm39) |
N214K |
possibly damaging |
Het |
| Nags |
A |
T |
11: 102,039,892 (GRCm39) |
S527C |
probably damaging |
Het |
| Ndst1 |
C |
T |
18: 60,841,028 (GRCm39) |
G218D |
probably damaging |
Het |
| Or10j5 |
G |
A |
1: 172,785,045 (GRCm39) |
V228M |
probably benign |
Het |
| Or5b94 |
T |
A |
19: 12,651,924 (GRCm39) |
Y118* |
probably null |
Het |
| Or8h7 |
C |
T |
2: 86,720,589 (GRCm39) |
C310Y |
probably benign |
Het |
| Oxa1l |
G |
T |
14: 54,600,802 (GRCm39) |
G92* |
probably null |
Het |
| Parp16 |
A |
T |
9: 65,137,245 (GRCm39) |
E157V |
probably damaging |
Het |
| Pcdh17 |
A |
T |
14: 84,684,984 (GRCm39) |
I484F |
probably damaging |
Het |
| Pex16 |
A |
G |
2: 92,209,580 (GRCm39) |
R263G |
probably benign |
Het |
| Pkd1l3 |
G |
A |
8: 110,356,869 (GRCm39) |
E765K |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,640,350 (GRCm39) |
V532A |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,885,609 (GRCm39) |
|
probably benign |
Het |
| Pramel5 |
T |
C |
4: 143,998,191 (GRCm39) |
T351A |
probably damaging |
Het |
| Prokr1 |
A |
T |
6: 87,565,593 (GRCm39) |
I84N |
probably damaging |
Het |
| Prss30 |
A |
T |
17: 24,192,695 (GRCm39) |
S162T |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,287,806 (GRCm39) |
K25E |
probably damaging |
Het |
| Rapsn |
A |
G |
2: 90,866,205 (GRCm39) |
T22A |
probably damaging |
Het |
| Rhoj |
G |
T |
12: 75,355,680 (GRCm39) |
G9V |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,340,169 (GRCm39) |
R3467G |
probably benign |
Het |
| Rreb1 |
C |
A |
13: 38,113,622 (GRCm39) |
S327* |
probably null |
Het |
| Scn5a |
G |
A |
9: 119,315,290 (GRCm39) |
P1806L |
probably damaging |
Het |
| Sema6a |
C |
A |
18: 47,423,042 (GRCm39) |
|
probably null |
Het |
| Stag3 |
G |
A |
5: 138,295,921 (GRCm39) |
E416K |
probably benign |
Het |
| Stpg1 |
T |
A |
4: 135,256,856 (GRCm39) |
S216T |
possibly damaging |
Het |
| Trp53bp1 |
G |
T |
2: 121,087,060 (GRCm39) |
Q199K |
possibly damaging |
Het |
| Ubr4 |
A |
G |
4: 139,155,877 (GRCm39) |
D2234G |
probably damaging |
Het |
| Ush1c |
T |
G |
7: 45,846,194 (GRCm39) |
Q866P |
probably benign |
Het |
| Vdr |
T |
A |
15: 97,782,735 (GRCm39) |
D29V |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,853,224 (GRCm39) |
V2439A |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,342,942 (GRCm39) |
S1728P |
possibly damaging |
Het |
| Zfp9 |
A |
G |
6: 118,441,436 (GRCm39) |
S409P |
probably damaging |
Het |
|
| Other mutations in Tfeb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
48,097,036 (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 |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation