Incidental Mutation 'R0036:Tfg'
| ID |
15456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfg
|
| Ensembl Gene |
ENSMUSG00000022757 |
| Gene Name |
Trk-fused gene |
| Synonyms |
|
| MMRRC Submission |
038330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R0036 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
56510695-56537813 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 56511358 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 324
(Q324K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048471]
[ENSMUST00000065515]
[ENSMUST00000096012]
[ENSMUST00000096013]
[ENSMUST00000156522]
[ENSMUST00000171000]
[ENSMUST00000231832]
[ENSMUST00000231781]
[ENSMUST00000231870]
|
| AlphaFold |
Q9Z1A1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048471
|
| SMART Domains |
Protein: ENSMUSP00000036257
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
516 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
747 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
764 |
N/A |
INTRINSIC |
|
FN3
|
941 |
1024 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065515
AA Change: Q324K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000067867
Gene: ENSMUSG00000022757
AA Change: Q324K
| Domain | Start | End | E-Value | Type |
|---|
|
PB1
|
10 |
91 |
5.97e-19 |
SMART |
|
coiled coil region
|
97 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
208 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
272 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096012
|
| SMART Domains |
Protein: ENSMUSP00000093711
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
647 |
N/A |
INTRINSIC |
|
low complexity region
|
651 |
664 |
N/A |
INTRINSIC |
|
FN3
|
841 |
924 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096013
|
| SMART Domains |
Protein: ENSMUSP00000093712
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
433 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
700 |
N/A |
INTRINSIC |
|
FN3
|
877 |
960 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127994
|
| SMART Domains |
Protein: ENSMUSP00000121564
Gene: ENSMUSG00000022757
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PB1
|
2 |
30 |
6e-11 |
BLAST |
|
coiled coil region
|
35 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
175 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000156522
AA Change: Q194K
|
| SMART Domains |
Protein: ENSMUSP00000119884
Gene: ENSMUSG00000022757
AA Change: Q194K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
174 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171000
|
| SMART Domains |
Protein: ENSMUSP00000128818
Gene: ENSMUSG00000035258
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FN3
|
114 |
203 |
3.08e-2 |
SMART |
|
low complexity region
|
464 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
|
FN3
|
671 |
754 |
6.29e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231832
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231781
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231870
|
| Meta Mutation Damage Score |
0.0823 |
| Coding Region Coverage |
- 1x: 79.1%
- 3x: 69.3%
- 10x: 43.3%
- 20x: 23.5%
|
| Validation Efficiency |
91% (49/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cfap44 |
A |
G |
16: 44,259,432 (GRCm39) |
E1098G |
possibly damaging |
Het |
| Cfap95 |
A |
T |
19: 23,593,932 (GRCm39) |
|
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,185,485 (GRCm39) |
|
probably null |
Het |
| Dock9 |
C |
T |
14: 121,860,265 (GRCm39) |
V886M |
probably damaging |
Het |
| Eaf2 |
T |
C |
16: 36,621,020 (GRCm39) |
Y224C |
probably benign |
Het |
| Eif5b |
T |
A |
1: 38,058,192 (GRCm39) |
S165T |
probably benign |
Het |
| Eln |
A |
G |
5: 134,739,914 (GRCm39) |
|
probably null |
Het |
| Jakmip1 |
A |
G |
5: 37,291,648 (GRCm39) |
K514R |
probably null |
Het |
| Myo1e |
T |
A |
9: 70,248,590 (GRCm39) |
W435R |
probably damaging |
Het |
| Nadsyn1 |
T |
C |
7: 143,365,028 (GRCm39) |
I226V |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,184,194 (GRCm39) |
|
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,841,693 (GRCm39) |
M1435T |
probably damaging |
Het |
| Ppic |
A |
T |
18: 53,542,264 (GRCm39) |
I148N |
probably damaging |
Het |
| Sdr16c6 |
C |
A |
4: 4,063,335 (GRCm39) |
|
probably benign |
Het |
| Sgo2a |
T |
C |
1: 58,054,787 (GRCm39) |
S324P |
probably benign |
Het |
| Slf1 |
G |
T |
13: 77,249,070 (GRCm39) |
Q373K |
probably benign |
Het |
| Wdr64 |
G |
T |
1: 175,556,496 (GRCm39) |
G248* |
probably null |
Het |
|
| Other mutations in Tfg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01402:Tfg
|
APN |
16 |
56,514,856 (GRCm39) |
splice site |
probably benign |
|
|
IGL01404:Tfg
|
APN |
16 |
56,514,856 (GRCm39) |
splice site |
probably benign |
|
|
IGL01548:Tfg
|
APN |
16 |
56,521,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
trafalgar
|
UTSW |
16 |
56,532,997 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0003:Tfg
|
UTSW |
16 |
56,511,351 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0003:Tfg
|
UTSW |
16 |
56,511,351 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1730:Tfg
|
UTSW |
16 |
56,533,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Tfg
|
UTSW |
16 |
56,525,988 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4629:Tfg
|
UTSW |
16 |
56,533,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Tfg
|
UTSW |
16 |
56,514,854 (GRCm39) |
splice site |
probably null |
|
|
R4879:Tfg
|
UTSW |
16 |
56,521,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Tfg
|
UTSW |
16 |
56,514,759 (GRCm39) |
splice site |
probably null |
|
|
R5237:Tfg
|
UTSW |
16 |
56,533,071 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5568:Tfg
|
UTSW |
16 |
56,521,450 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5698:Tfg
|
UTSW |
16 |
56,521,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5887:Tfg
|
UTSW |
16 |
56,514,779 (GRCm39) |
nonsense |
probably null |
|
|
R7213:Tfg
|
UTSW |
16 |
56,521,516 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7392:Tfg
|
UTSW |
16 |
56,532,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7514:Tfg
|
UTSW |
16 |
56,525,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7632:Tfg
|
UTSW |
16 |
56,532,997 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8304:Tfg
|
UTSW |
16 |
56,521,581 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9254:Tfg
|
UTSW |
16 |
56,526,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9432:Tfg
|
UTSW |
16 |
56,524,868 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-21 |
Incidental Mutation