Incidental Mutation 'R3960:Tbrg4'
ID |
312061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tbrg4
|
Ensembl Gene |
ENSMUSG00000000384 |
Gene Name |
transforming growth factor beta regulated gene 4 |
Synonyms |
2310042P22Rik, TB-12, Cpr2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.879)
|
Stock # |
R3960 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
6565598-6576067 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6568077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 484
(S484P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000394]
[ENSMUST00000156969]
[ENSMUST00000189268]
[ENSMUST00000150697]
[ENSMUST00000136682]
|
AlphaFold |
Q91YM4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000394
AA Change: S484P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000000394 Gene: ENSMUSG00000000384 AA Change: S484P
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
Pfam:FAST_1
|
368 |
437 |
5.9e-24 |
PFAM |
Pfam:FAST_2
|
450 |
535 |
7.4e-27 |
PFAM |
RAP
|
562 |
619 |
4.01e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082561
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083752
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131477
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132446
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156969
AA Change: S484P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114256 Gene: ENSMUSG00000000384 AA Change: S484P
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
Pfam:FAST_1
|
367 |
438 |
1.1e-23 |
PFAM |
Pfam:FAST_2
|
448 |
535 |
7.4e-29 |
PFAM |
RAP
|
562 |
619 |
4.01e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189268
AA Change: S484P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140835 Gene: ENSMUSG00000000384 AA Change: S484P
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
Pfam:FAST_1
|
367 |
438 |
1.1e-23 |
PFAM |
Pfam:FAST_2
|
448 |
535 |
7.4e-29 |
PFAM |
RAP
|
562 |
619 |
4.01e-10 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134016
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151008
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150697
|
SMART Domains |
Protein: ENSMUSP00000123131 Gene: ENSMUSG00000000384
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
SCOP:d1gw5a_
|
81 |
250 |
6e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136682
|
SMART Domains |
Protein: ENSMUSP00000114174 Gene: ENSMUSG00000000384
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
Hao1 |
A |
C |
2: 134,364,903 (GRCm39) |
|
probably null |
Het |
Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
Ildr2 |
T |
A |
1: 166,136,909 (GRCm39) |
W564R |
probably damaging |
Het |
Impg1 |
G |
T |
9: 80,322,917 (GRCm39) |
F29L |
probably benign |
Het |
Itgam |
T |
C |
7: 127,714,347 (GRCm39) |
V834A |
probably benign |
Het |
Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,131,262 (GRCm39) |
N1948D |
probably damaging |
Het |
Katnb1 |
T |
C |
8: 95,813,925 (GRCm39) |
V17A |
possibly damaging |
Het |
Nipbl |
T |
C |
15: 8,380,018 (GRCm39) |
N925D |
probably benign |
Het |
Oasl2 |
T |
C |
5: 115,043,098 (GRCm39) |
V70A |
probably benign |
Het |
Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,333,749 (GRCm39) |
H21R |
probably benign |
Het |
Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
Smarcd2 |
A |
G |
11: 106,157,401 (GRCm39) |
S182P |
probably damaging |
Het |
Tprkb |
A |
G |
6: 85,905,783 (GRCm39) |
E156G |
probably benign |
Het |
Zfp647 |
A |
G |
15: 76,795,176 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tbrg4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01656:Tbrg4
|
APN |
11 |
6,568,522 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02225:Tbrg4
|
APN |
11 |
6,574,094 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02332:Tbrg4
|
APN |
11 |
6,568,492 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT4449001:Tbrg4
|
UTSW |
11 |
6,569,689 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4453001:Tbrg4
|
UTSW |
11 |
6,570,857 (GRCm39) |
missense |
probably damaging |
1.00 |
R0412:Tbrg4
|
UTSW |
11 |
6,573,832 (GRCm39) |
missense |
probably benign |
|
R0732:Tbrg4
|
UTSW |
11 |
6,570,812 (GRCm39) |
missense |
probably benign |
0.19 |
R0943:Tbrg4
|
UTSW |
11 |
6,569,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R4618:Tbrg4
|
UTSW |
11 |
6,570,185 (GRCm39) |
intron |
probably benign |
|
R4686:Tbrg4
|
UTSW |
11 |
6,568,468 (GRCm39) |
missense |
probably benign |
0.00 |
R4767:Tbrg4
|
UTSW |
11 |
6,570,909 (GRCm39) |
missense |
probably benign |
0.00 |
R5240:Tbrg4
|
UTSW |
11 |
6,567,516 (GRCm39) |
critical splice donor site |
probably null |
|
R5457:Tbrg4
|
UTSW |
11 |
6,570,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R5898:Tbrg4
|
UTSW |
11 |
6,567,372 (GRCm39) |
missense |
probably damaging |
0.98 |
R7173:Tbrg4
|
UTSW |
11 |
6,570,810 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7343:Tbrg4
|
UTSW |
11 |
6,570,065 (GRCm39) |
missense |
probably benign |
0.28 |
R8017:Tbrg4
|
UTSW |
11 |
6,568,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R8019:Tbrg4
|
UTSW |
11 |
6,568,517 (GRCm39) |
missense |
probably damaging |
0.99 |
R8854:Tbrg4
|
UTSW |
11 |
6,566,691 (GRCm39) |
missense |
probably benign |
0.00 |
R9294:Tbrg4
|
UTSW |
11 |
6,574,204 (GRCm39) |
missense |
probably benign |
0.18 |
X0013:Tbrg4
|
UTSW |
11 |
6,567,540 (GRCm39) |
missense |
probably benign |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTACAAAGGCCCCTGTAAG -3'
(R):5'- GCTACTGCTGTATCTCCTGTGG -3'
Sequencing Primer
(F):5'- TGTAATGGGATCCAATGCCC -3'
(R):5'- GTGGTCCCCATTCTGCATCTG -3'
|
Posted On |
2015-04-29 |