Incidental Mutation 'R0943:Tbrg4'
| ID |
81973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tbrg4
|
| Ensembl Gene |
ENSMUSG00000000384 |
| Gene Name |
transforming growth factor beta regulated gene 4 |
| Synonyms |
2310042P22Rik, TB-12, Cpr2 |
| MMRRC Submission |
039082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.892)
|
| Stock # |
R0943 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
6565598-6576067 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6569008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 388
(F388L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000394]
[ENSMUST00000189268]
[ENSMUST00000156969]
[ENSMUST00000144463]
[ENSMUST00000136682]
[ENSMUST00000150697]
|
| AlphaFold |
Q91YM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000394
AA Change: F388L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000394
Gene: ENSMUSG00000000384
AA Change: F388L
| 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 |
probably damaging
Transcript: ENSMUST00000189268
AA Change: F388L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140835
Gene: ENSMUSG00000000384
AA Change: F388L
| 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: ENSMUST00000156969
AA Change: F388L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114256
Gene: ENSMUSG00000000384
AA Change: F388L
| 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: ENSMUST00000144463
|
| SMART Domains |
Protein: ENSMUSP00000120103
Gene: ENSMUSG00000000384
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
50 |
N/A |
INTRINSIC |
|
| 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: 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 |
|
| Meta Mutation Damage Score |
0.6593 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.5%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
T |
C |
13: 59,648,416 (GRCm39) |
N468S |
probably benign |
Het |
| Card6 |
A |
G |
15: 5,129,768 (GRCm39) |
S543P |
probably damaging |
Het |
| Celsr1 |
T |
G |
15: 85,787,489 (GRCm39) |
T2750P |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,539,135 (GRCm39) |
M2341T |
probably damaging |
Het |
| Dym |
A |
G |
18: 75,419,840 (GRCm39) |
*670W |
probably null |
Het |
| Ehbp1 |
T |
C |
11: 22,045,883 (GRCm39) |
D597G |
probably benign |
Het |
| Emx1 |
G |
A |
6: 85,180,901 (GRCm39) |
W206* |
probably null |
Het |
| Esr1 |
A |
G |
10: 4,696,781 (GRCm39) |
K210R |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fads2b |
C |
T |
2: 85,319,109 (GRCm39) |
D398N |
probably damaging |
Het |
| Fam72a |
T |
C |
1: 131,456,517 (GRCm39) |
S27P |
possibly damaging |
Het |
| Fanca |
A |
T |
8: 124,000,925 (GRCm39) |
C1152S |
probably damaging |
Het |
| Fras1 |
G |
A |
5: 96,874,402 (GRCm39) |
V2276I |
probably benign |
Het |
| Hoxb13 |
A |
G |
11: 96,086,799 (GRCm39) |
E202G |
probably benign |
Het |
| Lcmt1 |
T |
G |
7: 123,000,662 (GRCm39) |
|
probably null |
Het |
| Nars2 |
C |
T |
7: 96,605,138 (GRCm39) |
|
probably benign |
Het |
| Neil3 |
ATATTTATTTATTTATTTATTTATTTATTTATT |
ATATTTATTTATTTATTTATTTATTTATTTATTTATT |
8: 54,062,404 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
T |
C |
13: 46,850,248 (GRCm39) |
|
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,305 (GRCm39) |
V45A |
probably benign |
Het |
| Or5b112 |
C |
A |
19: 13,319,157 (GRCm39) |
H12N |
probably benign |
Het |
| Prkar2a |
T |
C |
9: 108,610,475 (GRCm39) |
|
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,038,902 (GRCm39) |
T209A |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf26rt |
T |
C |
6: 76,473,398 (GRCm39) |
H406R |
probably benign |
Het |
| Rprd2 |
C |
T |
3: 95,691,559 (GRCm39) |
V239I |
possibly damaging |
Het |
| Sgo2b |
A |
G |
8: 64,384,369 (GRCm39) |
F209S |
possibly damaging |
Het |
| Shfl |
A |
T |
9: 20,784,258 (GRCm39) |
H160L |
possibly damaging |
Het |
| Spry2 |
T |
C |
14: 106,131,021 (GRCm39) |
Y55C |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,037,243 (GRCm39) |
V667E |
probably benign |
Het |
| Tmt1a |
T |
C |
15: 100,202,839 (GRCm39) |
Y20H |
probably benign |
Het |
| Tshz1 |
T |
C |
18: 84,033,356 (GRCm39) |
T351A |
probably benign |
Het |
| Usp48 |
A |
G |
4: 137,371,781 (GRCm39) |
N969S |
possibly damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,691,397 (GRCm39) |
C375* |
probably null |
Het |
| Vps45 |
T |
A |
3: 95,964,336 (GRCm39) |
I62F |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,663,667 (GRCm39) |
F388L |
probably benign |
Het |
| Zfp735 |
A |
G |
11: 73,602,909 (GRCm39) |
T618A |
probably benign |
Het |
| Zswim2 |
T |
A |
2: 83,748,342 (GRCm39) |
R279S |
possibly 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 |
|
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 |
|
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'- GTCTCAAAGCCCTTGTGATACTCCC -3'
(R):5'- ACCTGAAGCTGCCTCTGGTTGAAC -3'
Sequencing Primer
(F):5'- CTTGTGATACTCCCCAGTGATGAAG -3'
(R):5'- TCTGGTTGAACAGTTGGAGC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation