Incidental Mutation 'IGL00092:Tgfbrap1'
| ID |
2000 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tgfbrap1
|
| Ensembl Gene |
ENSMUSG00000070939 |
| Gene Name |
transforming growth factor, beta receptor associated protein 1 |
| Synonyms |
3110018K12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00092
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
43086360-43137788 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43099283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 177
(Y177C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095014]
[ENSMUST00000186694]
[ENSMUST00000188728]
|
| AlphaFold |
Q3UR70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095014
AA Change: Y407C
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939
AA Change: Y407C
| 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: Y407C
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140132
Gene: ENSMUSG00000070939
AA Change: Y407C
| 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 damaging
Transcript: ENSMUST00000188728
AA Change: Y177C
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140169
Gene: ENSMUSG00000070939
AA Change: Y177C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vps39_1
|
218 |
254 |
3.6e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,892,430 (GRCm39) |
D443G |
probably benign |
Het |
| Atg16l1 |
T |
C |
1: 87,693,119 (GRCm39) |
I28T |
possibly damaging |
Het |
| Bpi |
T |
A |
2: 158,116,716 (GRCm39) |
V371E |
probably damaging |
Het |
| Cd109 |
T |
G |
9: 78,524,251 (GRCm39) |
V55G |
probably damaging |
Het |
| Cd300c2 |
T |
C |
11: 114,892,375 (GRCm39) |
|
probably benign |
Het |
| Cic |
C |
T |
7: 24,991,549 (GRCm39) |
R1280C |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,968,812 (GRCm39) |
|
probably benign |
Het |
| Cntn4 |
G |
T |
6: 106,483,186 (GRCm39) |
C247F |
probably damaging |
Het |
| Disp3 |
C |
T |
4: 148,325,991 (GRCm39) |
V1256I |
probably benign |
Het |
| Farsb |
A |
T |
1: 78,439,630 (GRCm39) |
S338T |
probably benign |
Het |
| Fcnb |
T |
C |
2: 27,966,813 (GRCm39) |
N240S |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,127,162 (GRCm39) |
S5G |
possibly damaging |
Het |
| Git1 |
T |
C |
11: 77,396,783 (GRCm39) |
L635P |
probably benign |
Het |
| Gm21985 |
T |
G |
2: 112,181,679 (GRCm39) |
W685G |
probably damaging |
Het |
| Gpt2 |
T |
C |
8: 86,238,953 (GRCm39) |
V262A |
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,869,896 (GRCm39) |
V1444A |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,391,248 (GRCm39) |
V4017A |
probably benign |
Het |
| Klhl17 |
T |
C |
4: 156,318,147 (GRCm39) |
T129A |
possibly damaging |
Het |
| Krt84 |
T |
G |
15: 101,437,170 (GRCm39) |
D331A |
probably damaging |
Het |
| Lrrc9 |
C |
T |
12: 72,533,017 (GRCm39) |
T963M |
possibly damaging |
Het |
| Mtcl1 |
C |
T |
17: 66,651,314 (GRCm39) |
V935I |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Myocd |
T |
C |
11: 65,071,770 (GRCm39) |
|
probably null |
Het |
| Nid1 |
A |
G |
13: 13,650,977 (GRCm39) |
N505D |
probably damaging |
Het |
| Ninj1 |
A |
T |
13: 49,347,210 (GRCm39) |
|
probably null |
Het |
| Or14a260 |
C |
T |
7: 85,985,269 (GRCm39) |
V112I |
probably benign |
Het |
| Or1x6 |
C |
A |
11: 50,939,227 (GRCm39) |
Q98K |
probably benign |
Het |
| Or4d10c |
A |
T |
19: 12,065,357 (GRCm39) |
D266E |
probably benign |
Het |
| Plscr2 |
T |
A |
9: 92,172,685 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,655,353 (GRCm39) |
T307A |
probably benign |
Het |
| Sart3 |
T |
C |
5: 113,884,730 (GRCm39) |
R625G |
probably benign |
Het |
| Sohlh2 |
T |
A |
3: 55,115,236 (GRCm39) |
L407H |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,178,492 (GRCm39) |
S877P |
probably damaging |
Het |
| Stat1 |
T |
C |
1: 52,161,754 (GRCm39) |
M1T |
probably null |
Het |
| Szt2 |
C |
T |
4: 118,241,447 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,302,007 (GRCm39) |
|
probably null |
Het |
| Terb2 |
T |
A |
2: 122,028,867 (GRCm39) |
S141R |
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,897,875 (GRCm39) |
I169N |
possibly damaging |
Het |
| Trim47 |
A |
G |
11: 115,997,020 (GRCm39) |
L578P |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,758 (GRCm39) |
S641P |
probably benign |
Het |
| Vwa5a |
T |
A |
9: 38,649,110 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
T |
A |
11: 72,765,952 (GRCm39) |
I1493N |
probably benign |
Het |
|
| Other mutations in Tgfbrap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2011-07-12 |
Incidental Mutation