Incidental Mutation 'IGL00766:Tgfbi'
ID |
14440 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tgfbi
|
Ensembl Gene |
ENSMUSG00000035493 |
Gene Name |
transforming growth factor, beta induced |
Synonyms |
68kDa, bIG-h3, Beta-ig |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
IGL00766
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
56757399-56787172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56778408 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 393
(D393G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045173]
[ENSMUST00000225600]
|
AlphaFold |
P82198 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045173
AA Change: D393G
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000037719 Gene: ENSMUSG00000035493 AA Change: D393G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
FAS1
|
139 |
239 |
1.35e-33 |
SMART |
FAS1
|
276 |
374 |
6.75e-34 |
SMART |
FAS1
|
411 |
501 |
1.16e-14 |
SMART |
FAS1
|
538 |
635 |
6.75e-34 |
SMART |
low complexity region
|
656 |
667 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225300
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225600
AA Change: D393G
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226024
|
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 an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for a null allele show delayed growth and are prone to spontaneous and induced tumors. Homozygotes for a second null allele are prone to STZ-induced diabetes and show impaired islet function under stress. Homozygotes for a third null allele show a transient decrease in retinal apoptosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
A |
5: 81,942,415 (GRCm39) |
D1379E |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,354,260 (GRCm39) |
T1794A |
probably damaging |
Het |
Ano2 |
A |
T |
6: 125,990,216 (GRCm39) |
D779V |
probably damaging |
Het |
Ap3b1 |
G |
T |
13: 94,679,392 (GRCm39) |
|
probably benign |
Het |
Arfgef1 |
A |
G |
1: 10,270,012 (GRCm39) |
V379A |
probably benign |
Het |
Arhgef10 |
A |
G |
8: 15,025,006 (GRCm39) |
Y398C |
probably damaging |
Het |
Arid2 |
C |
T |
15: 96,268,286 (GRCm39) |
R800C |
probably benign |
Het |
Ccdc88a |
T |
A |
11: 29,451,046 (GRCm39) |
H306Q |
probably damaging |
Het |
Cckar |
C |
A |
5: 53,857,378 (GRCm39) |
R344L |
probably damaging |
Het |
Cplane1 |
A |
T |
15: 8,281,648 (GRCm39) |
Q2829L |
unknown |
Het |
Egfem1 |
A |
G |
3: 29,711,302 (GRCm39) |
I237V |
possibly damaging |
Het |
Erlec1 |
T |
A |
11: 30,900,623 (GRCm39) |
K143* |
probably null |
Het |
Glyat |
T |
G |
19: 12,628,626 (GRCm39) |
D140E |
probably benign |
Het |
Grhl2 |
T |
C |
15: 37,336,545 (GRCm39) |
F50L |
probably damaging |
Het |
Havcr2 |
T |
C |
11: 46,360,373 (GRCm39) |
V151A |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,358,023 (GRCm39) |
Y2368C |
probably damaging |
Het |
Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
Itga7 |
G |
T |
10: 128,777,723 (GRCm39) |
D235Y |
possibly damaging |
Het |
Kctd3 |
C |
T |
1: 188,727,973 (GRCm39) |
V199I |
probably benign |
Het |
Mettl25 |
A |
G |
10: 105,615,443 (GRCm39) |
|
probably benign |
Het |
Myoz2 |
G |
A |
3: 122,810,193 (GRCm39) |
|
probably benign |
Het |
Nepro |
C |
T |
16: 44,549,668 (GRCm39) |
Q43* |
probably null |
Het |
Ophn1 |
T |
C |
X: 97,846,720 (GRCm39) |
D74G |
probably damaging |
Het |
Plau |
A |
G |
14: 20,888,635 (GRCm39) |
N84S |
probably benign |
Het |
Rprd2 |
A |
G |
3: 95,672,691 (GRCm39) |
V904A |
possibly damaging |
Het |
Satl1 |
T |
C |
X: 111,315,466 (GRCm39) |
K330E |
possibly damaging |
Het |
Sis |
C |
T |
3: 72,814,570 (GRCm39) |
|
probably benign |
Het |
Slc5a5 |
A |
C |
8: 71,341,181 (GRCm39) |
I386S |
probably damaging |
Het |
Slco1c1 |
T |
C |
6: 141,493,609 (GRCm39) |
Y264H |
probably damaging |
Het |
Sulf1 |
A |
C |
1: 12,890,687 (GRCm39) |
D375A |
probably damaging |
Het |
Tesl1 |
C |
A |
X: 23,772,838 (GRCm39) |
A113E |
probably benign |
Het |
Trim59 |
A |
C |
3: 68,944,712 (GRCm39) |
D209E |
probably benign |
Het |
Ubqln3 |
G |
T |
7: 103,792,031 (GRCm39) |
Q20K |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,168,077 (GRCm39) |
D2808G |
probably damaging |
Het |
|
Other mutations in Tgfbi |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02021:Tgfbi
|
APN |
13 |
56,779,166 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02325:Tgfbi
|
APN |
13 |
56,779,043 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4486001:Tgfbi
|
UTSW |
13 |
56,777,607 (GRCm39) |
missense |
probably damaging |
0.98 |
R0008:Tgfbi
|
UTSW |
13 |
56,777,587 (GRCm39) |
missense |
probably benign |
0.00 |
R0122:Tgfbi
|
UTSW |
13 |
56,775,781 (GRCm39) |
missense |
probably damaging |
1.00 |
R0389:Tgfbi
|
UTSW |
13 |
56,777,515 (GRCm39) |
missense |
probably benign |
0.02 |
R0419:Tgfbi
|
UTSW |
13 |
56,780,006 (GRCm39) |
splice site |
probably benign |
|
R0432:Tgfbi
|
UTSW |
13 |
56,780,004 (GRCm39) |
splice site |
probably benign |
|
R0671:Tgfbi
|
UTSW |
13 |
56,786,539 (GRCm39) |
missense |
probably null |
1.00 |
R0825:Tgfbi
|
UTSW |
13 |
56,786,523 (GRCm39) |
splice site |
probably benign |
|
R1263:Tgfbi
|
UTSW |
13 |
56,778,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R1597:Tgfbi
|
UTSW |
13 |
56,780,004 (GRCm39) |
splice site |
probably benign |
|
R1864:Tgfbi
|
UTSW |
13 |
56,780,694 (GRCm39) |
missense |
probably benign |
0.16 |
R1940:Tgfbi
|
UTSW |
13 |
56,762,127 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2570:Tgfbi
|
UTSW |
13 |
56,786,521 (GRCm39) |
splice site |
probably null |
|
R3111:Tgfbi
|
UTSW |
13 |
56,757,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R3613:Tgfbi
|
UTSW |
13 |
56,773,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R4815:Tgfbi
|
UTSW |
13 |
56,779,933 (GRCm39) |
missense |
probably benign |
0.45 |
R5847:Tgfbi
|
UTSW |
13 |
56,784,418 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6314:Tgfbi
|
UTSW |
13 |
56,773,976 (GRCm39) |
missense |
probably benign |
0.01 |
R6810:Tgfbi
|
UTSW |
13 |
56,785,016 (GRCm39) |
missense |
probably benign |
|
R6821:Tgfbi
|
UTSW |
13 |
56,773,950 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6943:Tgfbi
|
UTSW |
13 |
56,784,989 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7165:Tgfbi
|
UTSW |
13 |
56,775,829 (GRCm39) |
missense |
probably damaging |
0.99 |
R7297:Tgfbi
|
UTSW |
13 |
56,779,926 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7770:Tgfbi
|
UTSW |
13 |
56,780,657 (GRCm39) |
splice site |
probably null |
|
R7910:Tgfbi
|
UTSW |
13 |
56,779,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R7914:Tgfbi
|
UTSW |
13 |
56,777,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R8721:Tgfbi
|
UTSW |
13 |
56,773,599 (GRCm39) |
missense |
probably benign |
0.08 |
R8758:Tgfbi
|
UTSW |
13 |
56,779,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R8978:Tgfbi
|
UTSW |
13 |
56,778,391 (GRCm39) |
missense |
probably benign |
0.01 |
R9002:Tgfbi
|
UTSW |
13 |
56,771,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R9171:Tgfbi
|
UTSW |
13 |
56,773,526 (GRCm39) |
missense |
probably damaging |
0.99 |
R9286:Tgfbi
|
UTSW |
13 |
56,773,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R9689:Tgfbi
|
UTSW |
13 |
56,762,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R9700:Tgfbi
|
UTSW |
13 |
56,778,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2012-12-06 |