Incidental Mutation 'IGL02021:Tgfbi'
| ID |
183974 |
| 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 # |
IGL02021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
56757399-56787172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56779166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 463
(L463Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045173]
[ENSMUST00000225600]
|
| AlphaFold |
P82198 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045173
AA Change: L463Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493
AA Change: L463Q
| 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 damaging
Transcript: ENSMUST00000225600
AA Change: L463Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002L01Rik |
G |
A |
12: 3,457,890 (GRCm39) |
|
probably benign |
Het |
| Adam10 |
C |
T |
9: 70,651,191 (GRCm39) |
T72I |
possibly damaging |
Het |
| Adam26b |
T |
A |
8: 43,972,909 (GRCm39) |
M698L |
probably benign |
Het |
| Ankrd27 |
A |
T |
7: 35,313,881 (GRCm39) |
H404L |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,501,524 (GRCm39) |
S60G |
probably benign |
Het |
| Bcat1 |
T |
C |
6: 144,993,015 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
G |
A |
7: 24,444,631 (GRCm39) |
A650V |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,057 (GRCm39) |
N1344D |
probably benign |
Het |
| Ctsd |
G |
T |
7: 141,939,213 (GRCm39) |
L71I |
probably damaging |
Het |
| Dctn2 |
T |
C |
10: 127,110,926 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dennd2b |
T |
C |
7: 109,156,579 (GRCm39) |
Y57C |
probably damaging |
Het |
| Duoxa1 |
A |
G |
2: 122,135,127 (GRCm39) |
F251S |
probably benign |
Het |
| Fcho1 |
A |
C |
8: 72,173,919 (GRCm39) |
S2A |
probably benign |
Het |
| Gm4861 |
T |
C |
3: 137,257,871 (GRCm39) |
|
probably null |
Het |
| Gm4922 |
C |
A |
10: 18,660,225 (GRCm39) |
G166W |
probably damaging |
Het |
| Hic2 |
A |
G |
16: 17,076,617 (GRCm39) |
E482G |
probably benign |
Het |
| Hoxa5 |
C |
T |
6: 52,179,637 (GRCm39) |
R246K |
probably damaging |
Het |
| Ipo11 |
A |
T |
13: 106,993,745 (GRCm39) |
F721I |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,128,621 (GRCm39) |
S2993C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,435,599 (GRCm39) |
S612T |
probably benign |
Het |
| Lpar5 |
T |
G |
6: 125,058,955 (GRCm39) |
Y225* |
probably null |
Het |
| Map4k3 |
A |
G |
17: 80,917,255 (GRCm39) |
Y574H |
probably damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,163 (GRCm39) |
E296G |
probably damaging |
Het |
| Ncs1 |
A |
G |
2: 31,174,177 (GRCm39) |
D109G |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,472,783 (GRCm39) |
|
probably benign |
Het |
| Nr1h5 |
T |
C |
3: 102,855,058 (GRCm39) |
|
probably benign |
Het |
| Or2ag20 |
A |
T |
7: 106,464,696 (GRCm39) |
K170* |
probably null |
Het |
| Or4g7 |
A |
G |
2: 111,309,825 (GRCm39) |
D232G |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,765,143 (GRCm39) |
D595G |
probably damaging |
Het |
| Rbm17 |
C |
A |
2: 11,600,249 (GRCm39) |
|
probably benign |
Het |
| Slc24a3 |
T |
A |
2: 145,360,836 (GRCm39) |
I193N |
probably damaging |
Het |
| Stat5a |
G |
T |
11: 100,774,715 (GRCm39) |
V759F |
probably damaging |
Het |
| Tigar |
G |
T |
6: 127,066,253 (GRCm39) |
A95E |
probably damaging |
Het |
| Tph1 |
A |
G |
7: 46,306,421 (GRCm39) |
I180T |
possibly damaging |
Het |
| Usp22 |
T |
A |
11: 61,045,325 (GRCm39) |
Y517F |
probably damaging |
Het |
| Vmn2r105 |
A |
C |
17: 20,448,157 (GRCm39) |
I222M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,444,293 (GRCm39) |
I582V |
probably benign |
Het |
| Zfp217 |
A |
G |
2: 169,957,069 (GRCm39) |
V643A |
probably benign |
Het |
|
| Other mutations in Tgfbi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Tgfbi
|
APN |
13 |
56,778,408 (GRCm39) |
missense |
probably benign |
0.41 |
|
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 |
2014-05-07 |
Incidental Mutation