Incidental Mutation 'R2926:Tgfbrap1'
ID |
255734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfbrap1
|
Ensembl Gene |
ENSMUSG00000070939 |
Gene Name |
transforming growth factor, beta receptor associated protein 1 |
Synonyms |
3110018K12Rik |
MMRRC Submission |
040511-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2926 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
43086360-43137788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 43114789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 104
(M104L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095014]
[ENSMUST00000186694]
[ENSMUST00000188728]
[ENSMUST00000189010]
[ENSMUST00000190427]
|
AlphaFold |
Q3UR70 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095014
AA Change: M104L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000092624 Gene: ENSMUSG00000070939 AA Change: M104L
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 |
probably damaging
Transcript: ENSMUST00000186694
AA Change: M104L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140132 Gene: ENSMUSG00000070939 AA Change: M104L
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: ENSMUST00000187525
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187872
|
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189010
AA Change: M104L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190427
|
SMART Domains |
Protein: ENSMUSP00000140384 Gene: ENSMUSG00000070939
Domain | Start | End | E-Value | Type |
Pfam:CNH
|
1 |
53 |
2e-4 |
PFAM |
|
Meta Mutation Damage Score |
0.1753 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
98% (50/51) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
G |
T |
5: 124,216,902 (GRCm39) |
S438R |
possibly damaging |
Het |
Add3 |
A |
G |
19: 53,215,253 (GRCm39) |
|
probably null |
Het |
Adgrb2 |
T |
C |
4: 129,902,137 (GRCm39) |
L506P |
probably damaging |
Het |
Atp6v0a1 |
A |
T |
11: 100,934,774 (GRCm39) |
I621L |
probably damaging |
Het |
Calb1 |
T |
G |
4: 15,904,302 (GRCm39) |
L218R |
probably damaging |
Het |
Ccdc162 |
G |
A |
10: 41,437,203 (GRCm39) |
|
probably benign |
Het |
Ccser2 |
A |
T |
14: 36,601,518 (GRCm39) |
S842T |
possibly damaging |
Het |
Cd300a |
A |
G |
11: 114,784,139 (GRCm39) |
E49G |
possibly damaging |
Het |
Colec11 |
T |
A |
12: 28,667,428 (GRCm39) |
Q37L |
probably damaging |
Het |
D630045J12Rik |
T |
A |
6: 38,145,106 (GRCm39) |
I1307F |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,867,564 (GRCm39) |
V257A |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,550,338 (GRCm39) |
N3327I |
probably damaging |
Het |
Gja8 |
C |
T |
3: 96,826,469 (GRCm39) |
V398I |
probably benign |
Het |
Hfm1 |
A |
T |
5: 107,022,148 (GRCm39) |
L179* |
probably null |
Het |
Hsd3b9 |
A |
G |
3: 98,357,872 (GRCm39) |
|
probably benign |
Het |
Ift88 |
T |
C |
14: 57,726,375 (GRCm39) |
Y678H |
probably damaging |
Het |
Itga10 |
A |
G |
3: 96,560,165 (GRCm39) |
N560D |
probably damaging |
Het |
Itpk1 |
G |
T |
12: 102,545,389 (GRCm39) |
P238Q |
probably damaging |
Het |
Kl |
T |
C |
5: 150,876,806 (GRCm39) |
W209R |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,954,828 (GRCm39) |
N1127S |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,423,982 (GRCm39) |
C830Y |
probably damaging |
Het |
Mcmbp |
G |
A |
7: 128,299,738 (GRCm39) |
|
probably benign |
Het |
Mrps33 |
A |
G |
6: 39,782,438 (GRCm39) |
S28P |
probably damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Myt1 |
C |
T |
2: 181,467,803 (GRCm39) |
T1079M |
possibly damaging |
Het |
N4bp1 |
A |
T |
8: 87,588,424 (GRCm39) |
Y171* |
probably null |
Het |
Ncln |
G |
T |
10: 81,324,272 (GRCm39) |
T442K |
probably benign |
Het |
Nphp4 |
T |
C |
4: 152,602,596 (GRCm39) |
V390A |
probably damaging |
Het |
Ntrk2 |
C |
A |
13: 59,208,098 (GRCm39) |
T648K |
probably damaging |
Het |
Nwd1 |
A |
G |
8: 73,393,640 (GRCm39) |
H301R |
probably damaging |
Het |
Or4k5 |
A |
T |
14: 50,385,893 (GRCm39) |
V146E |
probably benign |
Het |
Pcdh12 |
T |
C |
18: 38,415,443 (GRCm39) |
N561D |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 82,041,769 (GRCm39) |
S2134T |
probably damaging |
Het |
Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
Pramel3e |
G |
T |
X: 134,400,297 (GRCm39) |
A96S |
possibly damaging |
Het |
Prrc2c |
C |
T |
1: 162,533,696 (GRCm39) |
|
probably benign |
Het |
Rabggta |
C |
T |
14: 55,956,747 (GRCm39) |
R319H |
probably benign |
Het |
Scn10a |
A |
C |
9: 119,467,767 (GRCm39) |
F791C |
possibly damaging |
Het |
Stab1 |
T |
A |
14: 30,883,756 (GRCm39) |
D267V |
probably damaging |
Het |
Sva |
A |
T |
6: 42,019,596 (GRCm39) |
Y152F |
possibly damaging |
Het |
Tmed4 |
T |
C |
11: 6,221,728 (GRCm39) |
T203A |
probably benign |
Het |
Toe1 |
C |
T |
4: 116,662,177 (GRCm39) |
A331T |
possibly damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,700,329 (GRCm39) |
|
probably benign |
Het |
Ttll7 |
C |
T |
3: 146,636,170 (GRCm39) |
R438* |
probably null |
Het |
Usp11 |
G |
T |
X: 20,584,031 (GRCm39) |
G601W |
probably damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,833,984 (GRCm39) |
T551A |
possibly damaging |
Het |
Vmn2r73 |
T |
C |
7: 85,520,871 (GRCm39) |
K366E |
probably benign |
Het |
Vps33a |
A |
G |
5: 123,707,634 (GRCm39) |
I111T |
possibly damaging |
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 |
|
R3842:Tgfbrap1
|
UTSW |
1 |
43,098,314 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- TGCACTCGGTCCTCATACAC -3'
(R):5'- CACATCAGCATTGAGTGTGTGG -3'
Sequencing Primer
(F):5'- CCAGAAACATTTGGACAGTCCTG -3'
(R):5'- TATGTCGGCACCAATGACTG -3'
|
Posted On |
2014-12-29 |