Incidental Mutation 'IGL01656:Tbrg4'
| ID |
103027 |
| 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: 0.892)
|
| Stock # |
IGL01656
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
6565598-6576067 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6568522 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 419
(Q419L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000394]
[ENSMUST00000156969]
[ENSMUST00000189268]
[ENSMUST00000150697]
[ENSMUST00000136682]
|
| AlphaFold |
Q91YM4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000394
AA Change: Q419L
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: Q419L
| 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 |
noncoding transcript
Transcript: ENSMUST00000132446
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156969
AA Change: Q419L
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: Q419L
| 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: ENSMUST00000189268
AA Change: Q419L
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: Q419L
| 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: ENSMUST00000151008
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134016
|
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
A |
C |
6: 125,030,675 (GRCm39) |
E232A |
possibly damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,173 (GRCm39) |
F30I |
possibly damaging |
Het |
| Ap5z1 |
A |
G |
5: 142,456,069 (GRCm39) |
D318G |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,740,339 (GRCm39) |
E1278G |
possibly damaging |
Het |
| Cylc1 |
A |
G |
X: 110,167,485 (GRCm39) |
T589A |
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,824,617 (GRCm39) |
I527V |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,217,739 (GRCm39) |
V713I |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,613,009 (GRCm39) |
V283A |
possibly damaging |
Het |
| Elf5 |
A |
G |
2: 103,273,206 (GRCm39) |
|
probably benign |
Het |
| Flnb |
C |
T |
14: 7,902,010 (GRCm38) |
|
probably benign |
Het |
| Flnc |
C |
T |
6: 29,443,507 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,891,201 (GRCm39) |
L113P |
probably damaging |
Het |
| Gemin4 |
C |
T |
11: 76,104,636 (GRCm39) |
V42M |
probably damaging |
Het |
| Gm10076 |
A |
G |
14: 105,919,354 (GRCm39) |
|
noncoding transcript |
Het |
| Grina |
A |
G |
15: 76,132,501 (GRCm39) |
Y116C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,460,763 (GRCm39) |
L914H |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,439,934 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,478,962 (GRCm39) |
Q368* |
probably null |
Het |
| Kbtbd8 |
A |
G |
6: 95,095,657 (GRCm39) |
H73R |
probably benign |
Het |
| Krt90 |
T |
A |
15: 101,463,878 (GRCm39) |
Q392L |
probably damaging |
Het |
| Magea3 |
A |
T |
X: 153,732,137 (GRCm39) |
M122K |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,137,003 (GRCm39) |
D237G |
probably damaging |
Het |
| Nln |
T |
C |
13: 104,198,249 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,098,074 (GRCm39) |
Y853C |
noncoding transcript |
Het |
| Nol11 |
T |
C |
11: 107,079,998 (GRCm39) |
D29G |
probably benign |
Het |
| Nr3c2 |
C |
T |
8: 77,914,166 (GRCm39) |
L791F |
probably damaging |
Het |
| Nup50l |
A |
G |
6: 96,142,675 (GRCm39) |
V123A |
possibly damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,282 (GRCm39) |
Y385H |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,162,029 (GRCm39) |
P182L |
possibly damaging |
Het |
| Or51a8 |
A |
G |
7: 102,550,472 (GRCm39) |
I299M |
possibly damaging |
Het |
| Or5b119 |
G |
A |
19: 13,457,454 (GRCm39) |
A36V |
probably benign |
Het |
| Pklr |
G |
T |
3: 89,052,302 (GRCm39) |
G505C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,472,469 (GRCm39) |
E1071G |
possibly damaging |
Het |
| Prkcq |
G |
T |
2: 11,231,766 (GRCm39) |
A30S |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,641,712 (GRCm39) |
F104L |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,788,770 (GRCm39) |
T34I |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,351,969 (GRCm39) |
P12L |
probably damaging |
Het |
| Slc25a21 |
A |
C |
12: 56,785,280 (GRCm39) |
V199G |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,998,977 (GRCm39) |
E483G |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,993,832 (GRCm39) |
M120T |
possibly damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,396 (GRCm39) |
|
probably benign |
Het |
| Tc2n |
A |
G |
12: 101,615,348 (GRCm39) |
|
probably benign |
Het |
| Tgfbr2 |
A |
C |
9: 115,938,737 (GRCm39) |
S388R |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,989,274 (GRCm39) |
E71G |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,482,449 (GRCm39) |
I176K |
probably damaging |
Het |
| Xylt1 |
G |
T |
7: 117,148,228 (GRCm39) |
R264L |
probably damaging |
Het |
|
| Other mutations in Tbrg4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation