Incidental Mutation 'R3842:Tgfbrap1'
ID |
277189 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfbrap1
|
Ensembl Gene |
ENSMUSG00000070939 |
Gene Name |
transforming growth factor, beta receptor associated protein 1 |
Synonyms |
3110018K12Rik |
MMRRC Submission |
040782-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3842 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
43086360-43137788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43098314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 489
(Y489N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095014]
[ENSMUST00000186694]
[ENSMUST00000188728]
|
AlphaFold |
Q3UR70 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095014
AA Change: Y489N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000092624 Gene: ENSMUSG00000070939 AA Change: Y489N
Domain | Start | End | E-Value | Type |
Pfam:CNH
|
30 |
293 |
3.3e-15 |
PFAM |
Pfam:Vps39_1
|
448 |
550 |
3.3e-26 |
PFAM |
Pfam:Clathrin
|
572 |
730 |
5.3e-13 |
PFAM |
Pfam:Vps39_2
|
738 |
846 |
2e-35 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185980
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186694
AA Change: Y489N
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140132 Gene: ENSMUSG00000070939 AA Change: Y489N
Domain | Start | End | E-Value | Type |
Pfam:CNH
|
29 |
293 |
1.4e-17 |
PFAM |
Pfam:Vps39_1
|
448 |
550 |
4.5e-26 |
PFAM |
Pfam:Clathrin
|
571 |
730 |
8.4e-13 |
PFAM |
Pfam:Vps39_2
|
738 |
846 |
4e-34 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188598
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188728
|
SMART Domains |
Protein: ENSMUSP00000140169 Gene: ENSMUSG00000070939
Domain | Start | End | E-Value | Type |
Pfam:Vps39_1
|
218 |
254 |
3.6e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.7300 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (37/37) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
C |
T |
14: 8,251,543 (GRCm38) |
R318H |
probably damaging |
Het |
Adamts16 |
T |
C |
13: 70,887,010 (GRCm39) |
Y958C |
possibly damaging |
Het |
Apol7e |
A |
G |
15: 77,601,789 (GRCm39) |
E129G |
probably damaging |
Het |
Bmp2k |
A |
G |
5: 97,235,010 (GRCm39) |
|
probably benign |
Het |
Camk2g |
T |
C |
14: 20,814,966 (GRCm39) |
H26R |
probably damaging |
Het |
Cpn2 |
A |
G |
16: 30,079,336 (GRCm39) |
S122P |
probably damaging |
Het |
Dhcr24 |
G |
T |
4: 106,443,002 (GRCm39) |
G346C |
probably damaging |
Het |
Egf |
G |
A |
3: 129,491,442 (GRCm39) |
R351* |
probably null |
Het |
Exosc10 |
T |
A |
4: 148,648,322 (GRCm39) |
Y260* |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam83h |
C |
T |
15: 75,874,499 (GRCm39) |
R946K |
probably benign |
Het |
Fbxo30 |
A |
G |
10: 11,165,856 (GRCm39) |
S193G |
probably damaging |
Het |
Grik3 |
T |
C |
4: 125,587,747 (GRCm39) |
|
probably benign |
Het |
Gtf3c6 |
A |
T |
10: 40,130,317 (GRCm39) |
|
probably null |
Het |
Hivep1 |
T |
C |
13: 42,311,203 (GRCm39) |
S1148P |
probably benign |
Het |
Hmgb2 |
T |
A |
8: 57,966,388 (GRCm39) |
S121T |
probably benign |
Het |
Hyal2 |
T |
C |
9: 107,449,320 (GRCm39) |
S359P |
probably damaging |
Het |
Itgbl1 |
A |
G |
14: 124,077,977 (GRCm39) |
T156A |
possibly damaging |
Het |
Lrrk2 |
C |
A |
15: 91,640,119 (GRCm39) |
Q1555K |
probably benign |
Het |
Myom1 |
T |
C |
17: 71,352,619 (GRCm39) |
V349A |
probably damaging |
Het |
Naa40 |
A |
T |
19: 7,207,174 (GRCm39) |
|
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,231,698 (GRCm39) |
Y54C |
probably damaging |
Het |
Nemf |
C |
T |
12: 69,378,723 (GRCm39) |
S533N |
probably damaging |
Het |
Nkain1 |
T |
A |
4: 130,537,296 (GRCm38) |
I80F |
probably damaging |
Het |
Or10ak12 |
A |
G |
4: 118,666,452 (GRCm39) |
V203A |
probably damaging |
Het |
Or2ag13 |
G |
A |
7: 106,473,302 (GRCm39) |
T50I |
probably benign |
Het |
Or9k2 |
G |
A |
10: 129,998,770 (GRCm39) |
R142C |
probably benign |
Het |
Pde3b |
T |
C |
7: 114,126,102 (GRCm39) |
S779P |
probably damaging |
Het |
Prkar2a |
A |
G |
9: 108,605,467 (GRCm39) |
Y175C |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,967,031 (GRCm39) |
|
probably benign |
Het |
Smgc |
T |
A |
15: 91,744,460 (GRCm39) |
|
probably benign |
Het |
Tasp1 |
T |
A |
2: 139,793,421 (GRCm39) |
S252C |
probably damaging |
Het |
Topors |
C |
T |
4: 40,262,123 (GRCm39) |
R387H |
probably benign |
Het |
Ttn |
A |
G |
2: 76,619,963 (GRCm39) |
S15902P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,680,647 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Tgfbrap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Tgfbrap1
|
APN |
1 |
43,099,283 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02142:Tgfbrap1
|
APN |
1 |
43,101,752 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02386:Tgfbrap1
|
APN |
1 |
43,114,981 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02667:Tgfbrap1
|
APN |
1 |
43,106,780 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03039:Tgfbrap1
|
APN |
1 |
43,115,088 (GRCm39) |
missense |
possibly damaging |
0.76 |
askew
|
UTSW |
1 |
43,098,289 (GRCm39) |
missense |
probably benign |
0.22 |
R0245:Tgfbrap1
|
UTSW |
1 |
43,114,752 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0609:Tgfbrap1
|
UTSW |
1 |
43,099,301 (GRCm39) |
missense |
probably benign |
0.24 |
R0624:Tgfbrap1
|
UTSW |
1 |
43,098,289 (GRCm39) |
missense |
probably benign |
0.22 |
R1111:Tgfbrap1
|
UTSW |
1 |
43,091,136 (GRCm39) |
missense |
probably benign |
0.07 |
R1184:Tgfbrap1
|
UTSW |
1 |
43,088,856 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1469:Tgfbrap1
|
UTSW |
1 |
43,114,618 (GRCm39) |
missense |
probably benign |
0.03 |
R1469:Tgfbrap1
|
UTSW |
1 |
43,114,618 (GRCm39) |
missense |
probably benign |
0.03 |
R1571:Tgfbrap1
|
UTSW |
1 |
43,088,973 (GRCm39) |
missense |
probably benign |
0.21 |
R1615:Tgfbrap1
|
UTSW |
1 |
43,091,145 (GRCm39) |
missense |
probably benign |
0.00 |
R1704:Tgfbrap1
|
UTSW |
1 |
43,093,816 (GRCm39) |
missense |
probably benign |
0.00 |
R1773:Tgfbrap1
|
UTSW |
1 |
43,114,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Tgfbrap1
|
UTSW |
1 |
43,110,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R2019:Tgfbrap1
|
UTSW |
1 |
43,093,677 (GRCm39) |
critical splice donor site |
probably null |
|
R2038:Tgfbrap1
|
UTSW |
1 |
43,093,794 (GRCm39) |
nonsense |
probably null |
|
R2926:Tgfbrap1
|
UTSW |
1 |
43,114,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R4345:Tgfbrap1
|
UTSW |
1 |
43,095,866 (GRCm39) |
missense |
probably benign |
0.02 |
R5133:Tgfbrap1
|
UTSW |
1 |
43,114,666 (GRCm39) |
missense |
probably damaging |
0.96 |
R5200:Tgfbrap1
|
UTSW |
1 |
43,114,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R5382:Tgfbrap1
|
UTSW |
1 |
43,115,025 (GRCm39) |
missense |
probably benign |
0.01 |
R5715:Tgfbrap1
|
UTSW |
1 |
43,099,097 (GRCm39) |
missense |
possibly damaging |
0.64 |
R6860:Tgfbrap1
|
UTSW |
1 |
43,106,759 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6921:Tgfbrap1
|
UTSW |
1 |
43,091,056 (GRCm39) |
missense |
probably benign |
|
R6937:Tgfbrap1
|
UTSW |
1 |
43,091,064 (GRCm39) |
missense |
probably damaging |
0.99 |
R7090:Tgfbrap1
|
UTSW |
1 |
43,110,725 (GRCm39) |
missense |
probably damaging |
0.99 |
R7359:Tgfbrap1
|
UTSW |
1 |
43,114,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R8318:Tgfbrap1
|
UTSW |
1 |
43,095,829 (GRCm39) |
missense |
probably damaging |
0.97 |
R8354:Tgfbrap1
|
UTSW |
1 |
43,115,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R8874:Tgfbrap1
|
UTSW |
1 |
43,114,973 (GRCm39) |
missense |
probably benign |
0.11 |
R8878:Tgfbrap1
|
UTSW |
1 |
43,088,959 (GRCm39) |
nonsense |
probably null |
|
R9030:Tgfbrap1
|
UTSW |
1 |
43,095,837 (GRCm39) |
missense |
probably benign |
0.00 |
R9150:Tgfbrap1
|
UTSW |
1 |
43,114,985 (GRCm39) |
nonsense |
probably null |
|
R9198:Tgfbrap1
|
UTSW |
1 |
43,093,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R9348:Tgfbrap1
|
UTSW |
1 |
43,093,695 (GRCm39) |
missense |
probably benign |
0.00 |
R9384:Tgfbrap1
|
UTSW |
1 |
43,095,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R9464:Tgfbrap1
|
UTSW |
1 |
43,114,608 (GRCm39) |
missense |
probably damaging |
0.99 |
X0028:Tgfbrap1
|
UTSW |
1 |
43,110,810 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tgfbrap1
|
UTSW |
1 |
43,099,307 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGTAGTGTAAATGCCTCGG -3'
(R):5'- AAGTTGTGAAATGTGCCCAGAG -3'
Sequencing Primer
(F):5'- CCTCGGTATATATGGAGTCCGAGAC -3'
(R):5'- CCCAGAGATTTAAAAGGGAAGGTTTC -3'
|
Posted On |
2015-04-06 |