Incidental Mutation 'R6937:Tgfbrap1'
ID |
540323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tgfbrap1
|
Ensembl Gene |
ENSMUSG00000070939 |
Gene Name |
transforming growth factor, beta receptor associated protein 1 |
Synonyms |
3110018K12Rik |
MMRRC Submission |
045051-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6937 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
43086360-43137788 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 43091064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 687
(V687E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095014]
[ENSMUST00000186694]
|
AlphaFold |
Q3UR70 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095014
AA Change: V687E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092624 Gene: ENSMUSG00000070939 AA Change: V687E
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: V687E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140132 Gene: ENSMUSG00000070939 AA Change: V687E
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 |
|
Meta Mutation Damage Score |
0.7124 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.1%
|
Validation Efficiency |
98% (42/43) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd52 |
T |
C |
10: 128,222,889 (GRCm39) |
V613A |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,322,893 (GRCm39) |
L337Q |
probably damaging |
Het |
Chrna6 |
A |
G |
8: 27,897,055 (GRCm39) |
L274P |
probably damaging |
Het |
Ciita |
G |
A |
16: 10,330,355 (GRCm39) |
|
probably null |
Het |
Csnka2ip |
A |
T |
16: 64,299,058 (GRCm39) |
|
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,490,103 (GRCm39) |
D1691N |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,234,280 (GRCm39) |
I1441T |
probably damaging |
Het |
Dock4 |
T |
C |
12: 40,884,634 (GRCm39) |
S1713P |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,859,018 (GRCm39) |
|
probably benign |
Het |
Epn1 |
T |
C |
7: 5,092,943 (GRCm39) |
I85T |
probably damaging |
Het |
Eri2 |
T |
C |
7: 119,386,012 (GRCm39) |
K228E |
probably damaging |
Het |
Garem1 |
C |
T |
18: 21,280,827 (GRCm39) |
A510T |
probably benign |
Het |
Gfm2 |
T |
A |
13: 97,299,572 (GRCm39) |
|
probably null |
Het |
Hnrnpd |
T |
C |
5: 100,111,629 (GRCm39) |
T321A |
probably benign |
Het |
Htr2a |
A |
T |
14: 74,882,604 (GRCm39) |
I197F |
probably damaging |
Het |
Krtap2-4 |
T |
A |
11: 99,505,299 (GRCm39) |
|
probably benign |
Het |
Lcn3 |
C |
A |
2: 25,657,823 (GRCm39) |
Y179* |
probably null |
Het |
Mak |
A |
T |
13: 41,201,578 (GRCm39) |
M261K |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,071,310 (GRCm39) |
T605A |
probably damaging |
Het |
Mcm4 |
A |
C |
16: 15,454,199 (GRCm39) |
F83V |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,950,258 (GRCm39) |
N1546S |
probably benign |
Het |
Nckap1 |
T |
A |
2: 80,339,060 (GRCm39) |
K989N |
probably damaging |
Het |
Ndufaf5 |
A |
G |
2: 140,023,522 (GRCm39) |
D119G |
probably damaging |
Het |
Or7g28 |
A |
T |
9: 19,271,985 (GRCm39) |
V222D |
probably damaging |
Het |
Pcdh1 |
T |
C |
18: 38,336,528 (GRCm39) |
T36A |
possibly damaging |
Het |
Pitpna |
C |
T |
11: 75,494,557 (GRCm39) |
T100I |
possibly damaging |
Het |
Pmf1 |
A |
T |
3: 88,306,496 (GRCm39) |
L102Q |
probably damaging |
Het |
Rftn2 |
T |
C |
1: 55,233,508 (GRCm39) |
|
probably null |
Het |
Robo3 |
A |
G |
9: 37,341,176 (GRCm39) |
L10P |
probably benign |
Het |
Serpinb6a |
T |
C |
13: 34,102,801 (GRCm39) |
I241V |
possibly damaging |
Het |
St14 |
A |
T |
9: 31,040,956 (GRCm39) |
|
probably null |
Het |
Stat6 |
T |
C |
10: 127,494,571 (GRCm39) |
|
probably null |
Het |
Tdpoz6 |
T |
C |
3: 93,599,523 (GRCm39) |
N282S |
probably benign |
Het |
Tdpoz8 |
A |
G |
3: 92,981,417 (GRCm39) |
H145R |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Trim30d |
A |
T |
7: 104,132,634 (GRCm39) |
S68T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,663,253 (GRCm39) |
|
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,292,158 (GRCm39) |
D97V |
probably benign |
Het |
Ugt8a |
G |
A |
3: 125,709,250 (GRCm39) |
|
probably benign |
Het |
Vmn1r184 |
A |
T |
7: 25,966,750 (GRCm39) |
K165N |
probably benign |
Het |
Vmn2r86 |
T |
A |
10: 130,284,523 (GRCm39) |
I523F |
probably damaging |
Het |
Wapl |
G |
A |
14: 34,444,311 (GRCm39) |
V588I |
probably benign |
Het |
Wdr7 |
C |
T |
18: 63,924,938 (GRCm39) |
P974S |
probably benign |
Het |
Zfp975 |
T |
C |
7: 42,314,480 (GRCm39) |
D31G |
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 |
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 |
|
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'- GGCATGATGGTTCAGCAAGTC -3'
(R):5'- TCCCTCAGTCATCTAGGTGG -3'
Sequencing Primer
(F):5'- TGGTTCAGCAAGTCCACAG -3'
(R):5'- AACCAGAGAGCCTGCTTTTG -3'
|
Posted On |
2018-11-06 |