Incidental Mutation 'IGL00264:Tbrg1'
| ID |
4912 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tbrg1
|
| Ensembl Gene |
ENSMUSG00000011114 |
| Gene Name |
transforming growth factor beta regulated gene 1 |
| Synonyms |
TB-5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
IGL00264
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
37560478-37568608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 37562337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 280
(N280K)
|
| 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 benign
Transcript: ENSMUST00000117654
AA Change: N280K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000112600
Gene: ENSMUSG00000011114
AA Change: N280K
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
T |
G |
1: 125,324,966 (GRCm39) |
I319L |
probably benign |
Het |
| Akap7 |
C |
T |
10: 25,047,138 (GRCm39) |
D20N |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,741,934 (GRCm39) |
S1070T |
probably benign |
Het |
| Arhgef9 |
T |
C |
X: 94,125,237 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
G |
10: 50,590,531 (GRCm39) |
V1083G |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,680,179 (GRCm39) |
E312D |
probably damaging |
Het |
| Bpifc |
A |
C |
10: 85,796,392 (GRCm39) |
V472G |
possibly damaging |
Het |
| Ccdc71 |
T |
A |
9: 108,340,237 (GRCm39) |
S17T |
probably damaging |
Het |
| Cebpzos |
T |
C |
17: 79,225,777 (GRCm39) |
|
probably benign |
Het |
| Cfi |
T |
C |
3: 129,666,744 (GRCm39) |
I489T |
probably damaging |
Het |
| Chrm2 |
T |
A |
6: 36,500,326 (GRCm39) |
F61Y |
probably damaging |
Het |
| Cpxm1 |
T |
C |
2: 130,237,863 (GRCm39) |
Y149C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,172,720 (GRCm39) |
I246T |
probably benign |
Het |
| Ereg |
C |
A |
5: 91,222,638 (GRCm39) |
S7Y |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,429,022 (GRCm39) |
L349Q |
possibly damaging |
Het |
| Gm10754 |
A |
G |
10: 97,518,274 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
T |
14: 5,864,475 (GRCm38) |
L29H |
probably benign |
Het |
| Hexim2 |
A |
G |
11: 103,029,281 (GRCm39) |
E111G |
probably damaging |
Het |
| Itga1 |
A |
T |
13: 115,128,899 (GRCm39) |
N586K |
possibly damaging |
Het |
| Kat6b |
A |
G |
14: 21,718,627 (GRCm39) |
D1102G |
probably benign |
Het |
| Kif27 |
A |
T |
13: 58,485,418 (GRCm39) |
M514K |
probably benign |
Het |
| Matn2 |
T |
C |
15: 34,428,616 (GRCm39) |
I660T |
probably damaging |
Het |
| Mki67 |
C |
A |
7: 135,309,549 (GRCm39) |
G301* |
probably null |
Het |
| Or13a25 |
T |
A |
7: 140,247,854 (GRCm39) |
I211N |
probably benign |
Het |
| Or1l4b |
T |
C |
2: 37,037,079 (GRCm39) |
F285S |
probably damaging |
Het |
| Or5b121 |
A |
C |
19: 13,507,214 (GRCm39) |
Y103S |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,976,683 (GRCm39) |
Y111C |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,488,526 (GRCm39) |
H68L |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,354,425 (GRCm39) |
V272A |
possibly damaging |
Het |
| Pstpip2 |
T |
C |
18: 77,959,259 (GRCm39) |
|
probably benign |
Het |
| Rdh14 |
G |
T |
12: 10,441,134 (GRCm39) |
G99W |
probably damaging |
Het |
| Rmc1 |
T |
C |
18: 12,312,276 (GRCm39) |
V172A |
probably benign |
Het |
| Sra1 |
A |
T |
18: 36,801,792 (GRCm39) |
S99R |
probably benign |
Het |
| Ugt8a |
A |
G |
3: 125,708,285 (GRCm39) |
|
probably null |
Het |
| Usp40 |
A |
T |
1: 87,931,960 (GRCm39) |
|
probably benign |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,646 (GRCm39) |
Y108F |
probably damaging |
Het |
| Zfp521 |
A |
G |
18: 13,979,559 (GRCm39) |
Y285H |
probably benign |
Het |
|
| Other mutations in Tbrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation