Incidental Mutation 'R4506:Tbrg1'
| ID |
332022 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbrg1
|
| Ensembl Gene |
ENSMUSG00000011114 |
| Gene Name |
transforming growth factor beta regulated gene 1 |
| Synonyms |
TB-5 |
| MMRRC Submission |
041584-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
R4506 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
37560478-37568608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37565691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 87
(E87V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117654]
[ENSMUST00000142736]
[ENSMUST00000215474]
|
| AlphaFold |
Q3UB74 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117654
AA Change: E87V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112600
Gene: ENSMUSG00000011114
AA Change: E87V
| 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 damaging
Transcript: ENSMUST00000142736
AA Change: E87V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215474
|
| Meta Mutation Damage Score |
0.3575 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (42/43) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,685,087 (GRCm39) |
P137T |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,152,445 (GRCm39) |
I1367N |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,867,492 (GRCm39) |
L152Q |
probably damaging |
Het |
| Adam19 |
G |
A |
11: 46,009,271 (GRCm39) |
D232N |
possibly damaging |
Het |
| Anapc4 |
A |
T |
5: 52,993,072 (GRCm39) |
N61I |
possibly damaging |
Het |
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,747,290 (GRCm39) |
C191S |
probably benign |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
A |
T |
5: 96,234,033 (GRCm39) |
V326E |
possibly damaging |
Het |
| Fcer2a |
A |
T |
8: 3,738,603 (GRCm39) |
|
probably null |
Het |
| Fgfr3 |
A |
G |
5: 33,887,343 (GRCm39) |
T221A |
probably damaging |
Het |
| Gm6632 |
C |
T |
5: 59,211,821 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,472,372 (GRCm39) |
|
probably benign |
Het |
| Ip6k3 |
A |
T |
17: 27,364,154 (GRCm39) |
L298Q |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,409,647 (GRCm39) |
D1727G |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,026,688 (GRCm39) |
T589A |
possibly damaging |
Het |
| Krtcap2 |
A |
G |
3: 89,153,563 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,740,928 (GRCm39) |
S752G |
probably benign |
Het |
| Mvb12a |
G |
T |
8: 71,996,103 (GRCm39) |
A86S |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,577,949 (GRCm39) |
|
probably benign |
Het |
| Or1e33 |
A |
T |
11: 73,738,521 (GRCm39) |
C143* |
probably null |
Het |
| Or8a1b |
C |
T |
9: 37,622,760 (GRCm39) |
V272I |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,889,761 (GRCm39) |
N1847K |
unknown |
Het |
| Pcdhga8 |
G |
C |
18: 37,949,816 (GRCm39) |
V411L |
probably damaging |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Ric8a |
A |
G |
7: 140,438,429 (GRCm39) |
I223V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,614,234 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
A |
T |
7: 35,152,845 (GRCm39) |
T88S |
probably damaging |
Het |
| Tnfsf4 |
T |
C |
1: 161,244,745 (GRCm39) |
S145P |
probably damaging |
Het |
| Tomm34 |
C |
A |
2: 163,896,292 (GRCm39) |
|
probably null |
Het |
| Trpv3 |
A |
G |
11: 73,186,150 (GRCm39) |
N647S |
probably benign |
Het |
| Upf1 |
G |
A |
8: 70,790,216 (GRCm39) |
R637C |
probably damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,679,884 (GRCm39) |
Q35H |
probably damaging |
Het |
| Wdtc1 |
C |
T |
4: 133,036,130 (GRCm39) |
V137M |
probably damaging |
Het |
| Zfp276 |
G |
A |
8: 123,991,666 (GRCm39) |
|
probably null |
Het |
| Zfp90 |
C |
T |
8: 107,151,496 (GRCm39) |
P403L |
possibly damaging |
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 |
|
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 |
|
|
R5871:Tbrg1
|
UTSW |
9 |
37,562,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TATCAGTAGAGCCTCCGAGG -3'
(R):5'- GCCTCTGTCTCCAATAAGAGC -3'
Sequencing Primer
(F):5'- GAGGCCACTGCTACACTATC -3'
(R):5'- AGAGCCTTATTGTGTGATAATCTTTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation