Incidental Mutation 'IGL02225:Tbrg4'
ID |
285300 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02225
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
6565598-6576067 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 6574094 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 43
(V43F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114174
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000394]
[ENSMUST00000150697]
[ENSMUST00000156969]
[ENSMUST00000144463]
[ENSMUST00000189268]
[ENSMUST00000136682]
|
AlphaFold |
Q91YM4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000394
AA Change: V43F
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000000394 Gene: ENSMUSG00000000384 AA Change: V43F
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: ENSMUST00000131815
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150697
AA Change: V43F
PolyPhen 2
Score 0.635 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000123131 Gene: ENSMUSG00000000384 AA Change: V43F
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
SCOP:d1gw5a_
|
81 |
250 |
6e-3 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156969
AA Change: V43F
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114256 Gene: ENSMUSG00000000384 AA Change: V43F
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 |
possibly damaging
Transcript: ENSMUST00000144463
AA Change: V43F
PolyPhen 2
Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000120103 Gene: ENSMUSG00000000384 AA Change: V43F
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189268
AA Change: V43F
PolyPhen 2
Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140835 Gene: ENSMUSG00000000384 AA Change: V43F
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 damaging
Transcript: ENSMUST00000136682
AA Change: V43F
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000114174 Gene: ENSMUSG00000000384 AA Change: V43F
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151008
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132446
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp4 |
A |
G |
7: 43,906,165 (GRCm39) |
|
probably null |
Het |
Adgrf4 |
C |
A |
17: 42,974,269 (GRCm39) |
|
probably null |
Het |
Aqp9 |
A |
T |
9: 71,037,829 (GRCm39) |
|
probably benign |
Het |
C1s1 |
A |
G |
6: 124,518,293 (GRCm39) |
W8R |
probably benign |
Het |
Cep43 |
T |
G |
17: 8,401,251 (GRCm39) |
D257E |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,800,616 (GRCm39) |
I345T |
probably benign |
Het |
Cwh43 |
T |
C |
5: 73,578,910 (GRCm39) |
Y306H |
probably damaging |
Het |
Cyp4a32 |
A |
T |
4: 115,467,700 (GRCm39) |
H228L |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,630 (GRCm39) |
L607P |
probably damaging |
Het |
Dlg3 |
A |
G |
X: 99,850,794 (GRCm39) |
K232R |
probably benign |
Het |
Fig4 |
A |
G |
10: 41,132,448 (GRCm39) |
S453P |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,858,743 (GRCm39) |
L1556P |
probably damaging |
Het |
Gjb2 |
T |
C |
14: 57,337,645 (GRCm39) |
K188E |
probably damaging |
Het |
Gp1bb |
C |
A |
16: 18,439,650 (GRCm39) |
W148L |
possibly damaging |
Het |
Grip1 |
C |
T |
10: 119,885,358 (GRCm39) |
T375M |
probably damaging |
Het |
Hnf1b |
T |
C |
11: 83,752,611 (GRCm39) |
L82P |
probably damaging |
Het |
Jakmip1 |
T |
C |
5: 37,262,200 (GRCm39) |
V333A |
probably damaging |
Het |
Magi1 |
G |
T |
6: 93,671,007 (GRCm39) |
R1069S |
probably damaging |
Het |
Myh15 |
A |
T |
16: 48,911,526 (GRCm39) |
E319D |
probably benign |
Het |
Myl4 |
A |
G |
11: 104,471,228 (GRCm39) |
I42V |
probably benign |
Het |
Obsl1 |
A |
T |
1: 75,480,442 (GRCm39) |
V394E |
probably damaging |
Het |
Or1e1c |
T |
A |
11: 73,265,904 (GRCm39) |
F110I |
probably damaging |
Het |
Or52ab7 |
A |
T |
7: 102,978,373 (GRCm39) |
I227F |
probably damaging |
Het |
Or5w14 |
C |
T |
2: 87,541,743 (GRCm39) |
C169Y |
possibly damaging |
Het |
Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,365,310 (GRCm39) |
Y1144H |
probably damaging |
Het |
Pogz |
A |
G |
3: 94,786,327 (GRCm39) |
K972E |
probably damaging |
Het |
Sccpdh |
A |
G |
1: 179,507,264 (GRCm39) |
T227A |
probably benign |
Het |
Sec16b |
A |
G |
1: 157,359,614 (GRCm39) |
|
probably benign |
Het |
Slain2 |
T |
A |
5: 73,098,733 (GRCm39) |
V163E |
probably damaging |
Het |
Snx1 |
G |
A |
9: 66,016,903 (GRCm39) |
P56L |
probably benign |
Het |
Snx14 |
G |
A |
9: 88,295,577 (GRCm39) |
T196I |
probably damaging |
Het |
Sspo |
T |
C |
6: 48,461,268 (GRCm39) |
F3570L |
probably benign |
Het |
Traf3ip3 |
A |
G |
1: 192,877,408 (GRCm39) |
I176T |
probably benign |
Het |
Trbv20 |
T |
A |
6: 41,165,241 (GRCm39) |
|
probably benign |
Het |
Ubc |
A |
T |
5: 125,463,197 (GRCm39) |
V710D |
probably benign |
Het |
Ugt2b35 |
T |
C |
5: 87,155,264 (GRCm39) |
|
probably benign |
Het |
Zbed5 |
C |
T |
5: 129,930,974 (GRCm39) |
|
probably null |
Het |
Zc3hav1 |
T |
C |
6: 38,317,276 (GRCm39) |
Y108C |
probably damaging |
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 |
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 |
R3960:Tbrg4
|
UTSW |
11 |
6,568,077 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2015-04-16 |