Incidental Mutation 'PIT4449001:Tbrg4'
| ID |
555741 |
| 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: 0.892)
|
| Stock # |
PIT4449001 (G1)
|
| Quality Score |
220.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
6565598-6576067 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6569689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 309
(Q309R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000394]
[ENSMUST00000136682]
[ENSMUST00000144463]
[ENSMUST00000150697]
[ENSMUST00000156969]
[ENSMUST00000189268]
|
| AlphaFold |
Q91YM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000394
AA Change: Q309R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: Q309R
| 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 |
probably benign
Transcript: ENSMUST00000136682
|
| SMART Domains |
Protein: ENSMUSP00000114174
Gene: ENSMUSG00000000384
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144463
|
| SMART Domains |
Protein: ENSMUSP00000120103
Gene: ENSMUSG00000000384
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150697
AA Change: Q309R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123131
Gene: ENSMUSG00000000384
AA Change: Q309R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
SCOP:d1gw5a_
|
81 |
250 |
6e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156969
AA Change: Q309R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: Q309R
| 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: ENSMUST00000189268
AA Change: Q309R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: Q309R
| 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 |
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asf1b |
A |
G |
8: 84,694,611 (GRCm39) |
N125S |
probably benign |
Het |
| BC048671 |
T |
A |
6: 90,282,145 (GRCm39) |
L101I |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,216,043 (GRCm39) |
L959P |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,148,720 (GRCm39) |
E236G |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,040,303 (GRCm39) |
V598F |
probably damaging |
Het |
| Cyp2j7 |
G |
T |
4: 96,103,575 (GRCm39) |
T320K |
probably damaging |
Het |
| Ddr1 |
A |
G |
17: 35,998,141 (GRCm39) |
I468T |
possibly damaging |
Het |
| Dhx15 |
A |
G |
5: 52,318,300 (GRCm39) |
V510A |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,186,988 (GRCm39) |
K507N |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
| Gabbr1 |
G |
A |
17: 37,367,242 (GRCm39) |
V373I |
probably damaging |
Het |
| Gak |
A |
T |
5: 108,728,791 (GRCm39) |
S1049T |
probably benign |
Het |
| Gipr |
C |
T |
7: 18,894,543 (GRCm39) |
R253H |
probably benign |
Het |
| Gm3685 |
T |
A |
14: 7,043,960 (GRCm38) |
M73L |
probably benign |
Het |
| Gm5168 |
C |
T |
X: 25,994,840 (GRCm39) |
R129Q |
probably null |
Het |
| Kcnh1 |
T |
A |
1: 192,100,992 (GRCm39) |
V555D |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,745,651 (GRCm39) |
S1916P |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,239 (GRCm39) |
V59A |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,067,454 (GRCm39) |
Q635L |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,293,616 (GRCm39) |
D790E |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,905,007 (GRCm39) |
W809R |
probably damaging |
Het |
| Or5ac19 |
C |
A |
16: 59,089,493 (GRCm39) |
C179F |
probably damaging |
Het |
| Polr3d |
T |
C |
14: 70,676,903 (GRCm39) |
H397R |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,304 (GRCm39) |
T432I |
probably benign |
Het |
| Rad21 |
G |
C |
15: 51,836,639 (GRCm39) |
F177L |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,822,153 (GRCm39) |
V235I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,599,014 (GRCm39) |
C1172Y |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,742 (GRCm39) |
L124P |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,992,906 (GRCm39) |
N199S |
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,874,702 (GRCm39) |
D253G |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,025 (GRCm39) |
M879T |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,752,455 (GRCm39) |
I328T |
possibly damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,139,465 (GRCm39) |
L687P |
probably damaging |
Het |
| Trgc3 |
A |
T |
13: 19,447,532 (GRCm39) |
R162* |
probably null |
Het |
| Tufm |
T |
C |
7: 126,086,621 (GRCm39) |
M1T |
probably null |
Het |
| Vmn2r116 |
A |
C |
17: 23,607,921 (GRCm39) |
L496F |
probably benign |
Het |
| Vmn2r75 |
C |
T |
7: 85,814,791 (GRCm39) |
C234Y |
probably damaging |
Het |
| Wars2 |
G |
T |
3: 99,112,595 (GRCm39) |
V162L |
possibly damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,552,349 (GRCm39) |
V586D |
probably benign |
Het |
| Zdhhc5 |
A |
T |
2: 84,520,571 (GRCm39) |
N535K |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,777,478 (GRCm39) |
Y38H |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,542 (GRCm39) |
M908V |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,207,350 (GRCm39) |
I114V |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGAGGCCTCTACAGATAACC -3'
(R):5'- TCTCCTAATGATGGCAAGCAC -3'
Sequencing Primer
(F):5'- GCCTCTACAGATAACCCTGCGG -3'
(R):5'- TAGAAACTCTGTGACTCCTGAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation