Incidental Mutation 'R3613:Tgfbi'
ID |
269292 |
Institutional Source |
Beutler Lab
|
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 # |
R3613 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
56757399-56787172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56773539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 179
(R179Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037719
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045173]
[ENSMUST00000225600]
|
AlphaFold |
P82198 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045173
AA Change: R179Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037719 Gene: ENSMUSG00000035493 AA Change: R179Q
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: R179Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
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: 17 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
C |
T |
14: 118,864,863 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
T |
A |
8: 46,395,843 (GRCm39) |
M578K |
possibly damaging |
Het |
Ctsh |
A |
C |
9: 89,957,763 (GRCm39) |
M281L |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Hinfp |
T |
C |
9: 44,209,041 (GRCm39) |
H359R |
probably damaging |
Het |
Hps5 |
A |
G |
7: 46,426,298 (GRCm39) |
|
probably null |
Het |
Lsamp |
T |
C |
16: 41,775,686 (GRCm39) |
V179A |
probably benign |
Het |
Nr1i3 |
T |
A |
1: 171,042,564 (GRCm39) |
C63* |
probably null |
Het |
Or6c5c |
A |
T |
10: 129,298,937 (GRCm39) |
T131S |
probably benign |
Het |
Pdk2 |
T |
C |
11: 94,918,072 (GRCm39) |
E387G |
probably benign |
Het |
Pelp1 |
T |
C |
11: 70,286,261 (GRCm39) |
N572S |
probably benign |
Het |
Rdh16f2 |
A |
T |
10: 127,710,808 (GRCm39) |
I142F |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,105,441 (GRCm39) |
H1515L |
probably damaging |
Het |
Sema5b |
C |
T |
16: 35,480,520 (GRCm39) |
T729I |
probably benign |
Het |
Vmn1r27 |
A |
T |
6: 58,192,787 (GRCm39) |
N72K |
probably damaging |
Het |
Vps13a |
G |
A |
19: 16,662,766 (GRCm39) |
T1573M |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTAGAAGAGGCATCTAGGTCC -3'
(R):5'- CTAAGGGCAGGATGTCTGTG -3'
Sequencing Primer
(F):5'- AGAGGCATCTAGGTCCACTTG -3'
(R):5'- GGGCCAGCCTAAGGTTTATCAAATC -3'
|
Posted On |
2015-02-19 |