Incidental Mutation 'R5382:Tgfbrap1'
ID |
424763 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfbrap1
|
Ensembl Gene |
ENSMUSG00000070939 |
Gene Name |
transforming growth factor, beta receptor associated protein 1 |
Synonyms |
3110018K12Rik |
MMRRC Submission |
042957-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5382 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
43086360-43137788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43115025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 25
(I25T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140413
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095014]
[ENSMUST00000186694]
[ENSMUST00000188728]
[ENSMUST00000189010]
[ENSMUST00000190427]
|
AlphaFold |
Q3UR70 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095014
AA Change: I25T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000092624 Gene: ENSMUSG00000070939 AA Change: I25T
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 benign
Transcript: ENSMUST00000186694
AA Change: I25T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000140132 Gene: ENSMUSG00000070939 AA Change: I25T
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 benign
Transcript: ENSMUST00000189010
AA Change: I25T
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (59/59) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp7 |
G |
A |
7: 28,314,844 (GRCm39) |
P250S |
possibly damaging |
Het |
Actn2 |
T |
A |
13: 12,323,837 (GRCm39) |
M133L |
probably benign |
Het |
Arhgap32 |
A |
T |
9: 32,063,306 (GRCm39) |
K105M |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,101,349 (GRCm39) |
V305A |
probably benign |
Het |
Brd1 |
G |
A |
15: 88,613,767 (GRCm39) |
T376M |
probably damaging |
Het |
Cbl |
C |
T |
9: 44,070,318 (GRCm39) |
A505T |
probably benign |
Het |
Cga |
G |
T |
4: 34,904,048 (GRCm39) |
M14I |
probably benign |
Het |
Ciao3 |
A |
G |
17: 25,995,894 (GRCm39) |
|
probably benign |
Het |
Cluh |
T |
C |
11: 74,555,935 (GRCm39) |
|
probably benign |
Het |
Col14a1 |
A |
T |
15: 55,225,832 (GRCm39) |
D165V |
unknown |
Het |
Cp |
T |
C |
3: 20,033,089 (GRCm39) |
W639R |
probably damaging |
Het |
Cyp7b1 |
T |
A |
3: 18,151,385 (GRCm39) |
D276V |
possibly damaging |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Ecpas |
A |
T |
4: 58,850,934 (GRCm39) |
M413K |
probably benign |
Het |
Erc1 |
T |
A |
6: 119,738,233 (GRCm39) |
M509L |
probably benign |
Het |
Evi5l |
A |
G |
8: 4,228,653 (GRCm39) |
|
probably benign |
Het |
Exoc6 |
T |
C |
19: 37,587,127 (GRCm39) |
|
probably null |
Het |
Gm38706 |
C |
T |
6: 130,460,744 (GRCm39) |
|
noncoding transcript |
Het |
Gpr183 |
T |
C |
14: 122,192,333 (GRCm39) |
T63A |
possibly damaging |
Het |
Gpr63 |
T |
A |
4: 25,007,952 (GRCm39) |
D225E |
probably benign |
Het |
Grb14 |
T |
A |
2: 64,745,078 (GRCm39) |
K93N |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kif28 |
C |
T |
1: 179,527,847 (GRCm39) |
G768D |
probably damaging |
Het |
Krt79 |
A |
T |
15: 101,839,875 (GRCm39) |
D373E |
probably benign |
Het |
Mro |
G |
A |
18: 74,009,893 (GRCm39) |
S187N |
probably benign |
Het |
Ms4a14 |
G |
T |
19: 11,280,421 (GRCm39) |
D712E |
possibly damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,490,893 (GRCm39) |
T56A |
possibly damaging |
Het |
Nell2 |
A |
T |
15: 95,127,091 (GRCm39) |
D761E |
probably damaging |
Het |
Numb |
A |
G |
12: 83,854,979 (GRCm39) |
F116L |
probably damaging |
Het |
Or3a1 |
T |
A |
11: 74,225,806 (GRCm39) |
M84L |
probably benign |
Het |
Or4c114 |
A |
G |
2: 88,905,079 (GRCm39) |
Y119H |
probably damaging |
Het |
Or5an11 |
A |
T |
19: 12,245,773 (GRCm39) |
M60L |
possibly damaging |
Het |
Or6c66 |
T |
A |
10: 129,461,876 (GRCm39) |
D18V |
probably damaging |
Het |
Or8k27 |
A |
G |
2: 86,275,660 (GRCm39) |
L222P |
probably damaging |
Het |
Or9g20 |
T |
C |
2: 85,630,492 (GRCm39) |
N41D |
probably damaging |
Het |
Otog |
A |
C |
7: 45,898,428 (GRCm39) |
N182T |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Padi6 |
A |
T |
4: 140,458,521 (GRCm39) |
V457E |
probably damaging |
Het |
Pex16 |
G |
A |
2: 92,207,875 (GRCm39) |
R109H |
possibly damaging |
Het |
Phactr1 |
T |
C |
13: 43,288,695 (GRCm39) |
|
probably benign |
Het |
Phf20 |
G |
A |
2: 156,109,417 (GRCm39) |
E255K |
probably damaging |
Het |
Pim1 |
A |
G |
17: 29,710,457 (GRCm39) |
|
probably benign |
Het |
Prr23a2 |
T |
A |
9: 98,739,229 (GRCm39) |
Y196N |
probably damaging |
Het |
Prune2 |
A |
T |
19: 16,981,023 (GRCm39) |
N60I |
probably damaging |
Het |
Ptprb |
T |
A |
10: 116,189,776 (GRCm39) |
Y1812N |
probably damaging |
Het |
Rab11fip4 |
A |
G |
11: 79,581,541 (GRCm39) |
Y512C |
possibly damaging |
Het |
Resf1 |
G |
T |
6: 149,227,958 (GRCm39) |
E335* |
probably null |
Het |
Rft1 |
T |
C |
14: 30,388,739 (GRCm39) |
V221A |
probably benign |
Het |
Tacr2 |
T |
C |
10: 62,097,276 (GRCm39) |
M252T |
probably damaging |
Het |
Th |
A |
G |
7: 142,449,177 (GRCm39) |
F191S |
probably damaging |
Het |
Trim3 |
C |
A |
7: 105,267,554 (GRCm39) |
R275L |
probably benign |
Het |
Trpm3 |
A |
G |
19: 22,862,705 (GRCm39) |
|
probably null |
Het |
Wars1 |
A |
T |
12: 108,848,706 (GRCm39) |
D80E |
probably benign |
Het |
Wdr90 |
T |
A |
17: 26,064,572 (GRCm39) |
Y1806F |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,782,735 (GRCm39) |
I1182N |
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 |
|
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 |
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'- GCTCGTTCACAGGTTTCTTG -3'
(R):5'- ACAGGAACTCTTTTCTGTCTGC -3'
Sequencing Primer
(F):5'- ACAGGTTTCTTGAAGCCCAG -3'
(R):5'- CTAAGGGAGTCAGGTTCTTCAG -3'
|
Posted On |
2016-08-04 |