Incidental Mutation 'R5871:Tbrg1'
| ID |
455197 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbrg1
|
| Ensembl Gene |
ENSMUSG00000011114 |
| Gene Name |
transforming growth factor beta regulated gene 1 |
| Synonyms |
TB-5 |
| MMRRC Submission |
043234-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R5871 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
37560478-37568608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 37562278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 300
(I300T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002007]
[ENSMUST00000117654]
[ENSMUST00000142736]
[ENSMUST00000213126]
[ENSMUST00000215474]
|
| AlphaFold |
Q3UB74 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002007
|
| SMART Domains |
Protein: ENSMUSP00000002007
Gene: ENSMUSG00000001942
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:DUF303
|
118 |
420 |
1.1e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117654
AA Change: I300T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112600
Gene: ENSMUSG00000011114
AA Change: I300T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
coiled coil region
|
56 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
104 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
156 |
N/A |
INTRINSIC |
|
FYRN
|
192 |
235 |
1.05e-18 |
SMART |
|
Pfam:FYRC
|
238 |
316 |
1.4e-23 |
PFAM |
|
low complexity region
|
349 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134711
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142736
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213126
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215474
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit increased embryonic survival and increased tumor incidence including B cell lymphoma. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr1 |
A |
T |
1: 173,159,640 (GRCm39) |
L293Q |
probably damaging |
Het |
| Ankrd13d |
A |
G |
19: 4,332,022 (GRCm39) |
V92A |
possibly damaging |
Het |
| Anxa5 |
T |
A |
3: 36,506,398 (GRCm39) |
Q218L |
possibly damaging |
Het |
| Bend6 |
T |
C |
1: 33,902,946 (GRCm39) |
M135V |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,558 (GRCm39) |
F54L |
probably benign |
Het |
| Chrng |
T |
C |
1: 87,134,451 (GRCm39) |
V164A |
possibly damaging |
Het |
| Clca3a1 |
T |
G |
3: 144,460,642 (GRCm39) |
S271R |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,752,112 (GRCm39) |
T1282I |
probably damaging |
Het |
| Dock10 |
C |
A |
1: 80,519,057 (GRCm39) |
|
probably null |
Het |
| Esrrb |
A |
G |
12: 86,552,661 (GRCm39) |
Y196C |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,631,321 (GRCm39) |
D208G |
probably damaging |
Het |
| Fancd2 |
A |
G |
6: 113,533,243 (GRCm39) |
E520G |
probably benign |
Het |
| Fgf9 |
A |
T |
14: 58,320,656 (GRCm39) |
|
probably null |
Het |
| Gatb |
T |
A |
3: 85,561,083 (GRCm39) |
L533* |
probably null |
Het |
| Igsf10 |
G |
T |
3: 59,237,832 (GRCm39) |
A783D |
possibly damaging |
Het |
| Ldlrap1 |
A |
G |
4: 134,486,240 (GRCm39) |
I73T |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,507,280 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
G |
A |
8: 40,064,693 (GRCm39) |
P327L |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,723,306 (GRCm39) |
Y823H |
probably damaging |
Het |
| Ncapg |
A |
G |
5: 45,853,039 (GRCm39) |
E835G |
probably damaging |
Het |
| Nfam1 |
A |
G |
15: 82,900,623 (GRCm39) |
S120P |
probably damaging |
Het |
| Or4k44 |
A |
G |
2: 111,367,984 (GRCm39) |
S217P |
probably damaging |
Het |
| Or56a3 |
T |
C |
7: 104,735,511 (GRCm39) |
V196A |
possibly damaging |
Het |
| Or8b49 |
T |
A |
9: 38,505,628 (GRCm39) |
I37K |
possibly damaging |
Het |
| Or9m2 |
T |
C |
2: 87,821,355 (GRCm39) |
F300S |
possibly damaging |
Het |
| Phtf2 |
A |
G |
5: 20,999,399 (GRCm39) |
V248A |
probably benign |
Het |
| Pik3r3 |
G |
T |
4: 116,143,355 (GRCm39) |
E283* |
probably null |
Het |
| Plcg2 |
T |
A |
8: 118,230,956 (GRCm39) |
Y13N |
probably damaging |
Het |
| Pth2r |
C |
T |
1: 65,427,796 (GRCm39) |
P490S |
probably damaging |
Het |
| Rnf40 |
T |
A |
7: 127,190,757 (GRCm39) |
M275K |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,948,014 (GRCm39) |
E1223G |
possibly damaging |
Het |
| Sec14l5 |
T |
A |
16: 4,986,717 (GRCm39) |
N168K |
probably benign |
Het |
| Siglecf |
T |
C |
7: 43,005,045 (GRCm39) |
V425A |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,387,027 (GRCm39) |
V13A |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,103,669 (GRCm39) |
|
probably null |
Het |
| Tnni3k |
T |
A |
3: 154,736,007 (GRCm39) |
D112V |
probably benign |
Het |
| Ubxn1 |
A |
G |
19: 8,851,576 (GRCm39) |
Q203R |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,381 (GRCm39) |
D180G |
possibly damaging |
Het |
| Usp14 |
A |
G |
18: 9,996,234 (GRCm39) |
F449L |
probably benign |
Het |
| Wwc2 |
A |
G |
8: 48,321,458 (GRCm39) |
L552P |
unknown |
Het |
| Zscan10 |
A |
G |
17: 23,826,241 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tbrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Tbrg1
|
APN |
9 |
37,562,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01327:Tbrg1
|
APN |
9 |
37,564,408 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01783:Tbrg1
|
APN |
9 |
37,565,596 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02412:Tbrg1
|
APN |
9 |
37,563,908 (GRCm39) |
splice site |
probably null |
|
|
R0125:Tbrg1
|
UTSW |
9 |
37,563,937 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1991:Tbrg1
|
UTSW |
9 |
37,560,715 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2103:Tbrg1
|
UTSW |
9 |
37,560,715 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4506:Tbrg1
|
UTSW |
9 |
37,565,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Tbrg1
|
UTSW |
9 |
37,562,632 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4895:Tbrg1
|
UTSW |
9 |
37,566,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5635:Tbrg1
|
UTSW |
9 |
37,566,287 (GRCm39) |
intron |
probably benign |
|
|
R5643:Tbrg1
|
UTSW |
9 |
37,560,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5644:Tbrg1
|
UTSW |
9 |
37,560,709 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5796:Tbrg1
|
UTSW |
9 |
37,563,871 (GRCm39) |
unclassified |
probably benign |
|
|
R7699:Tbrg1
|
UTSW |
9 |
37,560,771 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8117:Tbrg1
|
UTSW |
9 |
37,568,296 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8713:Tbrg1
|
UTSW |
9 |
37,563,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8984:Tbrg1
|
UTSW |
9 |
37,563,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9372:Tbrg1
|
UTSW |
9 |
37,563,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tbrg1
|
UTSW |
9 |
37,564,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAACTGGCTCCTACTCACC -3'
(R):5'- AACTAGCCTCCCAGTATAGTAGG -3'
Sequencing Primer
(F):5'- CCTACTCACCTGTCTAGATGAGTAAG -3'
(R):5'- TAGCCTCCCAGTATAGTAGGAATGC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation