Incidental Mutation 'IGL01599:Tgfbr3'
| ID |
92052 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tgfbr3
|
| Ensembl Gene |
ENSMUSG00000029287 |
| Gene Name |
transforming growth factor, beta receptor III |
| Synonyms |
betaglycan, TBRIII, 1110036H20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01599
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
107254436-107437495 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 107266317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 801
(T801M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031224]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031224
AA Change: T801M
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031224
Gene: ENSMUSG00000029287
AA Change: T801M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
64 |
193 |
2.48e-5 |
PROSPERO |
|
internal_repeat_1
|
232 |
361 |
2.48e-5 |
PROSPERO |
|
low complexity region
|
419 |
430 |
N/A |
INTRINSIC |
|
ZP
|
454 |
731 |
8.12e-65 |
SMART |
|
transmembrane domain
|
786 |
808 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
849 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000136882
AA Change: T144M
|
| SMART Domains |
Protein: ENSMUSP00000123644
Gene: ENSMUSG00000029287
AA Change: T144M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Zona_pellucida
|
1 |
67 |
5.9e-8 |
PFAM |
|
transmembrane domain
|
130 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138469
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes the transforming growth factor (TGF)-beta type III receptor. The encoded receptor is a membrane proteoglycan that often functions as a co-receptor with other TGF-beta receptor superfamily members. Ectodomain shedding produces soluble TGFBR3, which may inhibit TGFB signaling. Decreased expression of this receptor has been observed in various cancers. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene.[provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene usually die as embryos. The very few individuals that survive are poorly fertile with abnormalities of the spleen, liver, heart, and skeletal system. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr3 |
T |
C |
1: 90,141,856 (GRCm39) |
V105A |
probably benign |
Het |
| Acr |
T |
C |
15: 89,452,617 (GRCm39) |
V18A |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,608,761 (GRCm39) |
A540T |
possibly damaging |
Het |
| Aldh16a1 |
A |
G |
7: 44,791,517 (GRCm39) |
F753L |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,629,191 (GRCm39) |
Y338N |
probably benign |
Het |
| Aox3 |
C |
T |
1: 58,208,953 (GRCm39) |
R829C |
probably damaging |
Het |
| Arhgef11 |
T |
C |
3: 87,644,353 (GRCm39) |
S1535P |
probably benign |
Het |
| C4b |
A |
G |
17: 34,961,993 (GRCm39) |
|
probably benign |
Het |
| Ccdc157 |
A |
G |
11: 4,098,781 (GRCm39) |
C242R |
probably damaging |
Het |
| Cep135 |
T |
A |
5: 76,741,194 (GRCm39) |
M90K |
possibly damaging |
Het |
| Cfap36 |
A |
T |
11: 29,194,057 (GRCm39) |
|
probably null |
Het |
| Chl1 |
A |
G |
6: 103,685,445 (GRCm39) |
T829A |
probably benign |
Het |
| Copb2 |
T |
C |
9: 98,463,203 (GRCm39) |
S473P |
probably damaging |
Het |
| Cpb1 |
C |
T |
3: 20,306,118 (GRCm39) |
|
probably null |
Het |
| Cpsf1 |
A |
G |
15: 76,480,741 (GRCm39) |
L1295P |
probably damaging |
Het |
| Dmp1 |
C |
T |
5: 104,360,328 (GRCm39) |
Q335* |
probably null |
Het |
| Dyrk1a |
T |
A |
16: 94,492,743 (GRCm39) |
S621T |
possibly damaging |
Het |
| Exoc5 |
T |
A |
14: 49,272,421 (GRCm39) |
Q331L |
probably benign |
Het |
| Fmnl1 |
G |
A |
11: 103,077,482 (GRCm39) |
V287M |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,857,750 (GRCm39) |
S2015P |
possibly damaging |
Het |
| Gm7052 |
T |
C |
17: 22,258,985 (GRCm39) |
|
probably benign |
Het |
| Gprc5c |
A |
G |
11: 114,755,078 (GRCm39) |
I252V |
probably benign |
Het |
| Ints3 |
C |
T |
3: 90,301,629 (GRCm39) |
|
probably null |
Het |
| L1td1 |
A |
G |
4: 98,625,581 (GRCm39) |
D592G |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,025,720 (GRCm39) |
M1137V |
probably benign |
Het |
| Leng8 |
C |
A |
7: 4,148,481 (GRCm39) |
A751E |
probably benign |
Het |
| Lfng |
T |
C |
5: 140,598,290 (GRCm39) |
V204A |
probably damaging |
Het |
| Lsm14b |
A |
G |
2: 179,674,396 (GRCm39) |
D233G |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,863,836 (GRCm39) |
P354S |
probably benign |
Het |
| Mapt |
G |
A |
11: 104,185,741 (GRCm39) |
V53M |
probably damaging |
Het |
| Mier1 |
T |
G |
4: 103,012,738 (GRCm39) |
S377A |
possibly damaging |
Het |
| Neurog1 |
T |
C |
13: 56,399,660 (GRCm39) |
D29G |
probably damaging |
Het |
| Npr3 |
G |
A |
15: 11,895,875 (GRCm39) |
A257V |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,217,537 (GRCm39) |
V824A |
possibly damaging |
Het |
| Olfm4 |
T |
C |
14: 80,258,750 (GRCm39) |
S333P |
probably damaging |
Het |
| Or7g30 |
T |
G |
9: 19,353,111 (GRCm39) |
F301V |
probably benign |
Het |
| Or9a4 |
A |
C |
6: 40,549,186 (GRCm39) |
I289L |
probably damaging |
Het |
| Pbxip1 |
C |
A |
3: 89,350,897 (GRCm39) |
|
probably benign |
Het |
| Pde9a |
G |
T |
17: 31,633,124 (GRCm39) |
C38F |
probably damaging |
Het |
| Plb1 |
A |
T |
5: 32,499,888 (GRCm39) |
|
probably benign |
Het |
| Plcz1 |
T |
C |
6: 139,947,982 (GRCm39) |
|
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,939,672 (GRCm39) |
V1447A |
probably damaging |
Het |
| Pnldc1 |
A |
T |
17: 13,125,415 (GRCm39) |
M73K |
probably benign |
Het |
| Psg20 |
C |
T |
7: 18,414,963 (GRCm39) |
V311M |
possibly damaging |
Het |
| Psmd2 |
G |
T |
16: 20,478,155 (GRCm39) |
|
probably null |
Het |
| Rabgap1 |
T |
C |
2: 37,446,281 (GRCm39) |
V859A |
probably damaging |
Het |
| Rad51b |
T |
A |
12: 79,374,002 (GRCm39) |
S194T |
probably benign |
Het |
| Rb1cc1 |
C |
T |
1: 6,318,995 (GRCm39) |
Q788* |
probably null |
Het |
| Ror2 |
C |
T |
13: 53,265,653 (GRCm39) |
G468R |
probably damaging |
Het |
| Slamf7 |
A |
G |
1: 171,468,754 (GRCm39) |
I46T |
possibly damaging |
Het |
| Stab2 |
A |
G |
10: 86,758,759 (GRCm39) |
S1060P |
probably damaging |
Het |
| Syndig1 |
T |
A |
2: 149,845,203 (GRCm39) |
V242E |
probably damaging |
Het |
| Tmem132c |
T |
C |
5: 127,436,616 (GRCm39) |
|
probably benign |
Het |
| Trav21-dv12 |
T |
C |
14: 54,114,188 (GRCm39) |
Y103H |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,370,596 (GRCm39) |
S871P |
possibly damaging |
Het |
| Ubr3 |
T |
C |
2: 69,768,522 (GRCm39) |
V443A |
probably damaging |
Het |
| Uhrf2 |
G |
T |
19: 30,069,520 (GRCm39) |
C749F |
probably damaging |
Het |
| Ulk2 |
G |
T |
11: 61,682,262 (GRCm39) |
S751* |
probably null |
Het |
| Wrn |
G |
A |
8: 33,731,039 (GRCm39) |
P1098S |
possibly damaging |
Het |
| Xrcc5 |
T |
C |
1: 72,385,508 (GRCm39) |
V533A |
possibly damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,547,163 (GRCm39) |
S223P |
probably damaging |
Het |
|
| Other mutations in Tgfbr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Tgfbr3
|
APN |
5 |
107,290,367 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01135:Tgfbr3
|
APN |
5 |
107,362,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01375:Tgfbr3
|
APN |
5 |
107,284,837 (GRCm39) |
missense |
probably benign |
|
|
IGL01457:Tgfbr3
|
APN |
5 |
107,297,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01646:Tgfbr3
|
APN |
5 |
107,269,279 (GRCm39) |
splice site |
probably benign |
|
|
IGL01945:Tgfbr3
|
APN |
5 |
107,269,224 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03039:Tgfbr3
|
APN |
5 |
107,325,665 (GRCm39) |
splice site |
probably benign |
|
|
IGL03202:Tgfbr3
|
APN |
5 |
107,257,630 (GRCm39) |
splice site |
probably benign |
|
|
IGL03378:Tgfbr3
|
APN |
5 |
107,257,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Tgfbr3
|
UTSW |
5 |
107,280,682 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0452:Tgfbr3
|
UTSW |
5 |
107,288,289 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0665:Tgfbr3
|
UTSW |
5 |
107,325,716 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0667:Tgfbr3
|
UTSW |
5 |
107,325,716 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0751:Tgfbr3
|
UTSW |
5 |
107,287,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1373:Tgfbr3
|
UTSW |
5 |
107,362,809 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1777:Tgfbr3
|
UTSW |
5 |
107,284,796 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1887:Tgfbr3
|
UTSW |
5 |
107,284,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3019:Tgfbr3
|
UTSW |
5 |
107,285,412 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3552:Tgfbr3
|
UTSW |
5 |
107,287,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3617:Tgfbr3
|
UTSW |
5 |
107,288,485 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3901:Tgfbr3
|
UTSW |
5 |
107,362,753 (GRCm39) |
splice site |
probably benign |
|
|
R4830:Tgfbr3
|
UTSW |
5 |
107,257,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Tgfbr3
|
UTSW |
5 |
107,278,335 (GRCm39) |
missense |
probably benign |
|
|
R5020:Tgfbr3
|
UTSW |
5 |
107,362,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Tgfbr3
|
UTSW |
5 |
107,284,795 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5619:Tgfbr3
|
UTSW |
5 |
107,288,380 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5752:Tgfbr3
|
UTSW |
5 |
107,287,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5768:Tgfbr3
|
UTSW |
5 |
107,297,761 (GRCm39) |
missense |
probably benign |
|
|
R5799:Tgfbr3
|
UTSW |
5 |
107,257,474 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5818:Tgfbr3
|
UTSW |
5 |
107,280,869 (GRCm39) |
missense |
probably benign |
|
|
R5846:Tgfbr3
|
UTSW |
5 |
107,288,521 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5859:Tgfbr3
|
UTSW |
5 |
107,288,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6049:Tgfbr3
|
UTSW |
5 |
107,266,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6378:Tgfbr3
|
UTSW |
5 |
107,325,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6696:Tgfbr3
|
UTSW |
5 |
107,284,796 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6823:Tgfbr3
|
UTSW |
5 |
107,297,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6994:Tgfbr3
|
UTSW |
5 |
107,280,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7454:Tgfbr3
|
UTSW |
5 |
107,362,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7773:Tgfbr3
|
UTSW |
5 |
107,288,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7978:Tgfbr3
|
UTSW |
5 |
107,287,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8201:Tgfbr3
|
UTSW |
5 |
107,278,431 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8296:Tgfbr3
|
UTSW |
5 |
107,287,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8758:Tgfbr3
|
UTSW |
5 |
107,297,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9232:Tgfbr3
|
UTSW |
5 |
107,290,361 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9360:Tgfbr3
|
UTSW |
5 |
107,257,550 (GRCm39) |
missense |
unknown |
|
|
R9784:Tgfbr3
|
UTSW |
5 |
107,297,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0022:Tgfbr3
|
UTSW |
5 |
107,284,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-09 |
Incidental Mutation