Incidental Mutation 'IGL02325:Tgfbi'
ID |
288417 |
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: 0.126)
|
Stock # |
IGL02325
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
56757399-56787172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56779043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 422
(D422G)
|
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: D422G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000037719 Gene: ENSMUSG00000035493 AA Change: D422G
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: D422G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acads |
A |
T |
5: 115,250,013 (GRCm39) |
I233N |
probably damaging |
Het |
Agtpbp1 |
C |
T |
13: 59,648,303 (GRCm39) |
G393S |
probably benign |
Het |
Ahctf1 |
T |
C |
1: 179,603,580 (GRCm39) |
D822G |
probably benign |
Het |
Alpk1 |
T |
C |
3: 127,473,552 (GRCm39) |
N817S |
probably benign |
Het |
Aoah |
G |
A |
13: 21,101,295 (GRCm39) |
E272K |
probably damaging |
Het |
Aoc1 |
A |
G |
6: 48,882,829 (GRCm39) |
D235G |
possibly damaging |
Het |
Ccdc186 |
G |
T |
19: 56,801,788 (GRCm39) |
Q110K |
probably benign |
Het |
Celsr2 |
G |
T |
3: 108,320,187 (GRCm39) |
T875K |
probably damaging |
Het |
Chdh |
T |
C |
14: 29,754,782 (GRCm39) |
V264A |
probably benign |
Het |
Col15a1 |
A |
G |
4: 47,289,364 (GRCm39) |
T854A |
probably damaging |
Het |
Cuedc1 |
A |
T |
11: 88,060,999 (GRCm39) |
E114V |
probably null |
Het |
Ddx23 |
A |
T |
15: 98,545,074 (GRCm39) |
D677E |
possibly damaging |
Het |
Ddx24 |
A |
G |
12: 103,382,525 (GRCm39) |
V640A |
probably damaging |
Het |
Ddx25 |
T |
C |
9: 35,465,804 (GRCm39) |
|
probably benign |
Het |
Ddx43 |
T |
C |
9: 78,309,772 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
T |
C |
18: 37,986,653 (GRCm39) |
K1111E |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,725,043 (GRCm39) |
D4370G |
probably damaging |
Het |
Eef1e1 |
A |
T |
13: 38,840,012 (GRCm39) |
|
probably benign |
Het |
Egfem1 |
T |
C |
3: 29,206,066 (GRCm39) |
I101T |
probably benign |
Het |
Gpr142 |
G |
T |
11: 114,696,947 (GRCm39) |
L164F |
probably damaging |
Het |
Gtf2h5 |
T |
A |
17: 6,131,106 (GRCm39) |
|
probably null |
Het |
Hap1 |
T |
A |
11: 100,245,190 (GRCm39) |
|
probably null |
Het |
Hemgn |
T |
G |
4: 46,396,085 (GRCm39) |
I384L |
probably benign |
Het |
Ints3 |
A |
T |
3: 90,311,349 (GRCm39) |
H419Q |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,383,026 (GRCm39) |
L132P |
probably damaging |
Het |
Krtap29-1 |
C |
T |
11: 99,869,159 (GRCm39) |
V241M |
probably damaging |
Het |
Lrguk |
A |
G |
6: 34,106,114 (GRCm39) |
E713G |
probably benign |
Het |
Lrrk2 |
G |
T |
15: 91,610,511 (GRCm39) |
|
probably null |
Het |
Nlrp14 |
A |
G |
7: 106,781,523 (GRCm39) |
D240G |
possibly damaging |
Het |
Omt2b |
A |
T |
9: 78,235,854 (GRCm39) |
T60S |
possibly damaging |
Het |
Or10ag52 |
G |
T |
2: 87,043,850 (GRCm39) |
G205W |
probably damaging |
Het |
Pcdhb2 |
A |
G |
18: 37,429,733 (GRCm39) |
N569D |
possibly damaging |
Het |
Plcd3 |
G |
A |
11: 102,971,447 (GRCm39) |
R66* |
probably null |
Het |
Polr1a |
G |
A |
6: 71,897,641 (GRCm39) |
R212Q |
probably benign |
Het |
Pou3f2 |
A |
T |
4: 22,487,020 (GRCm39) |
L371Q |
probably damaging |
Het |
Rnf207 |
A |
T |
4: 152,396,237 (GRCm39) |
I509N |
probably damaging |
Het |
Sema5a |
T |
G |
15: 32,686,977 (GRCm39) |
S1030A |
possibly damaging |
Het |
Shank1 |
C |
A |
7: 43,976,504 (GRCm39) |
S534* |
probably null |
Het |
Sntg2 |
T |
C |
12: 30,245,542 (GRCm39) |
T495A |
probably benign |
Het |
Spem2 |
A |
T |
11: 69,707,789 (GRCm39) |
V392D |
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,029,453 (GRCm39) |
|
probably benign |
Het |
Tbc1d8 |
A |
T |
1: 39,433,321 (GRCm39) |
F287Y |
probably damaging |
Het |
Tppp |
G |
A |
13: 74,169,295 (GRCm39) |
A12T |
probably benign |
Het |
Usp46 |
C |
T |
5: 74,197,689 (GRCm39) |
|
probably null |
Het |
Zdhhc12 |
C |
T |
2: 29,981,448 (GRCm39) |
V205I |
probably damaging |
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 |
IGL02021:Tgfbi
|
APN |
13 |
56,779,166 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |