Incidental Mutation 'R1263:Tgfbi'
| ID |
151675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tgfbi
|
| Ensembl Gene |
ENSMUSG00000035493 |
| Gene Name |
transforming growth factor, beta induced |
| Synonyms |
68kDa, bIG-h3, Beta-ig |
| MMRRC Submission |
039330-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R1263 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
56757399-56787172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56778468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 413
(L413Q)
|
| 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: L413Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037719
Gene: ENSMUSG00000035493
AA Change: L413Q
| 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: L413Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226024
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
A |
C |
11: 109,832,433 (GRCm39) |
H1231Q |
possibly damaging |
Het |
| Acbd4 |
T |
A |
11: 102,994,677 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
T |
A |
16: 29,290,771 (GRCm39) |
Y226F |
possibly damaging |
Het |
| Brd3 |
A |
C |
2: 27,352,534 (GRCm39) |
F132C |
probably damaging |
Het |
| Btaf1 |
A |
T |
19: 36,933,924 (GRCm39) |
N184I |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
| Ccdc185 |
A |
T |
1: 182,574,918 (GRCm39) |
Y590* |
probably null |
Het |
| Chi3l1 |
G |
A |
1: 134,116,980 (GRCm39) |
E315K |
probably benign |
Het |
| Col6a6 |
T |
A |
9: 105,586,688 (GRCm39) |
M1778L |
probably benign |
Het |
| Cyp3a59 |
A |
C |
5: 146,041,521 (GRCm39) |
Y355S |
probably damaging |
Het |
| Cyp4a31 |
A |
G |
4: 115,431,908 (GRCm39) |
T396A |
probably benign |
Het |
| Dnaaf6rt |
A |
T |
1: 31,262,296 (GRCm39) |
I93F |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,121,948 (GRCm39) |
I1373N |
probably damaging |
Het |
| Dop1b |
C |
A |
16: 93,574,274 (GRCm39) |
H1598N |
probably benign |
Het |
| Erich4 |
T |
A |
7: 25,314,559 (GRCm39) |
K118M |
probably damaging |
Het |
| Gkap1 |
A |
T |
13: 58,403,587 (GRCm39) |
V179E |
probably benign |
Het |
| Gpr107 |
T |
G |
2: 31,068,267 (GRCm39) |
I243S |
possibly damaging |
Het |
| Hs3st6 |
A |
G |
17: 24,977,504 (GRCm39) |
N328S |
probably damaging |
Het |
| Kcnq5 |
A |
T |
1: 21,549,602 (GRCm39) |
I375N |
probably damaging |
Het |
| Klhdc3 |
A |
T |
17: 46,987,892 (GRCm39) |
H266Q |
probably benign |
Het |
| Krt71 |
C |
T |
15: 101,643,901 (GRCm39) |
G446R |
probably damaging |
Het |
| L3mbtl2 |
A |
G |
15: 81,567,169 (GRCm39) |
T423A |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,929,430 (GRCm39) |
E1812G |
probably damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,987,948 (GRCm39) |
I1174T |
probably benign |
Het |
| Npas2 |
C |
A |
1: 39,373,849 (GRCm39) |
Q450K |
possibly damaging |
Het |
| Nrp1 |
T |
A |
8: 129,194,870 (GRCm39) |
I442N |
probably damaging |
Het |
| Or1j10 |
T |
A |
2: 36,267,006 (GRCm39) |
S73T |
probably damaging |
Het |
| Or2y1 |
A |
T |
11: 49,385,848 (GRCm39) |
M163L |
probably benign |
Het |
| Palld |
TGCGTAGCG |
TGCG |
8: 61,966,491 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
A |
7: 99,768,890 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Polg |
T |
C |
7: 79,109,534 (GRCm39) |
T428A |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,484,329 (GRCm39) |
V57E |
possibly damaging |
Het |
| Rnf122 |
T |
G |
8: 31,602,177 (GRCm39) |
M1R |
probably null |
Het |
| Sanbr |
A |
T |
11: 23,570,278 (GRCm39) |
Y207* |
probably null |
Het |
| Scn10a |
T |
A |
9: 119,446,799 (GRCm39) |
T1410S |
probably damaging |
Het |
| Serpinb13 |
T |
A |
1: 106,928,466 (GRCm39) |
V362E |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,234,922 (GRCm39) |
N927S |
probably damaging |
Het |
| Sft2d1 |
A |
G |
17: 8,539,470 (GRCm39) |
K91R |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,035,274 (GRCm39) |
H327R |
probably damaging |
Het |
| Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
| Styxl1 |
G |
T |
5: 135,782,737 (GRCm39) |
S117R |
probably damaging |
Het |
| Synj2 |
T |
C |
17: 6,069,634 (GRCm39) |
F150L |
probably damaging |
Het |
| Tep1 |
C |
A |
14: 51,082,970 (GRCm39) |
V1013L |
possibly damaging |
Het |
| Tmc5 |
G |
A |
7: 118,266,093 (GRCm39) |
R789Q |
probably damaging |
Het |
| Tonsl |
T |
A |
15: 76,506,762 (GRCm39) |
I115F |
possibly damaging |
Het |
| Trim38 |
A |
G |
13: 23,975,117 (GRCm39) |
Y352C |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,250,536 (GRCm39) |
V44D |
probably benign |
Het |
| Vars2 |
A |
G |
17: 35,972,501 (GRCm39) |
V39A |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,428,584 (GRCm39) |
C831R |
probably damaging |
Het |
| Vmn2r26 |
T |
A |
6: 124,027,667 (GRCm39) |
I469N |
probably benign |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,533 (GRCm39) |
Y762C |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,896,918 (GRCm39) |
Q334L |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,414,164 (GRCm39) |
I227N |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACATAGTCACACCTCCCGTTACC -3'
(R):5'- CCTGGCAGAGGCAAAGTATTGAGC -3'
Sequencing Primer
(F):5'- ACACCTCCCGTTACCTTTTGG -3'
(R):5'- CTTGGCTGGTTCAGATAAACAACG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation