Incidental Mutation 'R1752:Tln1'
| ID |
193593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tln1
|
| Ensembl Gene |
ENSMUSG00000028465 |
| Gene Name |
talin 1 |
| Synonyms |
|
| MMRRC Submission |
039784-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1752 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43531513-43562583 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43536311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1994
(T1994A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030187]
|
| AlphaFold |
P26039 |
| PDB Structure |
Crystal Structure of Talin Rod 482-655 [X-RAY DIFFRACTION]
Crystal Structure of talin residues 482-789 [X-RAY DIFFRACTION]
Vinculin complexed with the VBS1 helix from talin [X-RAY DIFFRACTION]
Solution structure of VBS2 fragment of talin [SOLUTION NMR]
Structural basis for phosphatidylinositol phosphate kinase type I-gamma binding to talin at focal adhesions [X-RAY DIFFRACTION]
Vinculin Head (0-258) in Complex with the Talin Rod residues 1630-1652 [X-RAY DIFFRACTION]
Solution structure of VBS3 fragment of talin [SOLUTION NMR]
NMR structure of talin-PTB in complex with PIPKI [SOLUTION NMR]
NMR structure of the talin C-terminal actin binding site [SOLUTION NMR]
NMR structure of the talin rod domain, 1655-1822 [SOLUTION NMR]
>> 16 additional structures at PDB <<
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030187
AA Change: T1994A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465
AA Change: T1994A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B41
|
2 |
76 |
5e-31 |
BLAST |
|
B41
|
82 |
313 |
4.66e-73 |
SMART |
|
IRS
|
308 |
401 |
7.65e-16 |
SMART |
|
Pfam:Talin_middle
|
491 |
652 |
8.2e-60 |
PFAM |
|
low complexity region
|
671 |
690 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
699 |
760 |
8.94e-6 |
PROSPERO |
|
low complexity region
|
766 |
775 |
N/A |
INTRINSIC |
|
PDB:1ZVZ|B
|
820 |
844 |
2e-7 |
PDB |
|
low complexity region
|
866 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
895 |
N/A |
INTRINSIC |
|
PDB:2LQG|A
|
913 |
1044 |
2e-44 |
PDB |
|
PDB:2L7N|A
|
1046 |
1207 |
1e-101 |
PDB |
|
Pfam:VBS
|
1234 |
1358 |
9.6e-8 |
PFAM |
|
internal_repeat_2
|
1488 |
1549 |
8.94e-6 |
PROSPERO |
|
internal_repeat_3
|
1623 |
1769 |
4.92e-5 |
PROSPERO |
|
low complexity region
|
1817 |
1828 |
N/A |
INTRINSIC |
|
Pfam:VBS
|
1849 |
1973 |
6.2e-67 |
PFAM |
|
PDB:3DYJ|B
|
1974 |
2293 |
N/A |
PDB |
|
low complexity region
|
2305 |
2327 |
N/A |
INTRINSIC |
|
ILWEQ
|
2336 |
2533 |
2.93e-105 |
SMART |
|
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoskeletal protein that is concentrated in areas of cell-substratum and cell-cell contacts. The encoded protein plays a significant role in the assembly of actin filaments and in spreading and migration of various cell types, including fibroblasts and osteoclasts. It codistributes with integrins in the cell surface membrane in order to assist in the attachment of adherent cells to extracellular matrices and of lymphocytes to other cells. The N-terminus of this protein contains elements for localization to cell-extracellular matrix junctions. The C-terminus contains binding sites for proteins such as beta-1-integrin, actin, and vinculin. [provided by RefSeq, Feb 2009]
PHENOTYPE: Mice homozygous for either one of two knock-out alleles display early developmental anomalies, reduced embryo size, and embryonic lethality due to impaired cell migration at the gastrulation stage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,842,468 (GRCm39) |
V1134A |
probably benign |
Het |
| Accsl |
C |
T |
2: 93,688,375 (GRCm39) |
G420S |
probably damaging |
Het |
| Adam29 |
A |
G |
8: 56,325,309 (GRCm39) |
S382P |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,038,766 (GRCm39) |
L393P |
probably benign |
Het |
| Arhgef19 |
T |
G |
4: 140,978,354 (GRCm39) |
S616A |
probably benign |
Het |
| Atp11a |
C |
T |
8: 12,863,094 (GRCm39) |
T91I |
probably damaging |
Het |
| Ccdc88b |
C |
T |
19: 6,830,690 (GRCm39) |
V751I |
probably benign |
Het |
| Ccni |
T |
C |
5: 93,350,315 (GRCm39) |
|
probably benign |
Het |
| Cd2 |
G |
A |
3: 101,183,511 (GRCm39) |
A266V |
probably benign |
Het |
| Cd33 |
T |
C |
7: 43,181,722 (GRCm39) |
D146G |
probably benign |
Het |
| Cdh16 |
A |
G |
8: 105,346,505 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
C |
17: 15,963,494 (GRCm39) |
|
probably null |
Het |
| Chd5 |
A |
T |
4: 152,459,590 (GRCm39) |
I1109F |
probably damaging |
Het |
| Cir1 |
T |
C |
2: 73,140,882 (GRCm39) |
E29G |
probably damaging |
Het |
| Clec5a |
T |
C |
6: 40,559,187 (GRCm39) |
T66A |
probably damaging |
Het |
| Cpa2 |
A |
G |
6: 30,552,023 (GRCm39) |
D250G |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,961 (GRCm39) |
L707H |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,523,669 (GRCm39) |
T2646A |
probably benign |
Het |
| Cul7 |
G |
A |
17: 46,964,093 (GRCm39) |
R390Q |
probably benign |
Het |
| Cyp2c69 |
T |
A |
19: 39,869,597 (GRCm39) |
I141F |
probably damaging |
Het |
| Dapk2 |
C |
G |
9: 66,127,925 (GRCm39) |
R68G |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,713,434 (GRCm39) |
V470I |
possibly damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,593,850 (GRCm39) |
V530A |
probably benign |
Het |
| Dock7 |
A |
G |
4: 98,854,681 (GRCm39) |
F1528L |
probably damaging |
Het |
| Edn1 |
T |
A |
13: 42,457,075 (GRCm39) |
V36E |
possibly damaging |
Het |
| Eng |
T |
C |
2: 32,563,404 (GRCm39) |
V319A |
probably benign |
Het |
| Epb41l2 |
A |
G |
10: 25,336,690 (GRCm39) |
K229E |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,550,666 (GRCm39) |
N698S |
probably benign |
Het |
| Fndc7 |
T |
C |
3: 108,776,646 (GRCm39) |
N465S |
probably benign |
Het |
| Fstl4 |
T |
C |
11: 53,077,622 (GRCm39) |
V793A |
probably benign |
Het |
| Gm9797 |
A |
T |
10: 11,485,287 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd17b4 |
T |
C |
18: 50,303,834 (GRCm39) |
S436P |
probably benign |
Het |
| Itsn2 |
T |
G |
12: 4,761,950 (GRCm39) |
|
probably null |
Het |
| Kank3 |
T |
C |
17: 34,038,791 (GRCm39) |
V570A |
probably damaging |
Het |
| Kif13a |
A |
T |
13: 46,951,885 (GRCm39) |
F733Y |
probably damaging |
Het |
| Kif16b |
G |
T |
2: 142,532,586 (GRCm39) |
D1184E |
probably benign |
Het |
| Kif20a |
A |
G |
18: 34,764,634 (GRCm39) |
D727G |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,915,736 (GRCm39) |
S504R |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,505,381 (GRCm39) |
T2196A |
possibly damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Luzp2 |
T |
C |
7: 54,914,088 (GRCm39) |
S306P |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,377,465 (GRCm39) |
I1490V |
possibly damaging |
Het |
| Manba |
T |
A |
3: 135,212,706 (GRCm39) |
W72R |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,651,965 (GRCm39) |
V339A |
probably benign |
Het |
| Mnx1 |
A |
G |
5: 29,682,727 (GRCm39) |
S183P |
unknown |
Het |
| Muc5b |
T |
G |
7: 141,421,488 (GRCm39) |
L4326R |
possibly damaging |
Het |
| Myb |
T |
C |
10: 21,032,336 (GRCm39) |
D15G |
possibly damaging |
Het |
| Ncapg2 |
A |
T |
12: 116,390,338 (GRCm39) |
D429V |
probably damaging |
Het |
| Neurod6 |
A |
G |
6: 55,656,511 (GRCm39) |
V42A |
probably benign |
Het |
| Nfxl1 |
A |
T |
5: 72,698,218 (GRCm39) |
C276S |
probably damaging |
Het |
| Nptx2 |
C |
A |
5: 144,492,171 (GRCm39) |
T316N |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,777,600 (GRCm39) |
F135Y |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,837 (GRCm39) |
F57Y |
probably benign |
Het |
| Or4c109 |
C |
A |
2: 88,817,659 (GRCm39) |
A296S |
possibly damaging |
Het |
| Or51ag1 |
T |
A |
7: 103,155,765 (GRCm39) |
R129S |
probably benign |
Het |
| Osbpl11 |
T |
C |
16: 33,025,205 (GRCm39) |
Y144H |
probably damaging |
Het |
| Pax5 |
T |
C |
4: 44,609,729 (GRCm39) |
Y233C |
probably damaging |
Het |
| Pck1 |
A |
G |
2: 172,998,906 (GRCm39) |
N388S |
probably benign |
Het |
| Plcd3 |
T |
A |
11: 102,971,085 (GRCm39) |
Q157L |
probably benign |
Het |
| Pnma2 |
A |
C |
14: 67,153,785 (GRCm39) |
M70L |
probably benign |
Het |
| Pogk |
T |
C |
1: 166,235,997 (GRCm39) |
K35E |
probably damaging |
Het |
| Ptprb |
T |
A |
10: 116,176,895 (GRCm39) |
V1227E |
probably benign |
Het |
| Pygm |
T |
A |
19: 6,441,064 (GRCm39) |
V450E |
probably damaging |
Het |
| Rb1 |
T |
A |
14: 73,525,064 (GRCm39) |
I190F |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,423,673 (GRCm39) |
Y2243N |
probably damaging |
Het |
| Slc11a2 |
A |
T |
15: 100,303,687 (GRCm39) |
L182Q |
probably damaging |
Het |
| Slc45a3 |
T |
C |
1: 131,905,259 (GRCm39) |
L94P |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,668,421 (GRCm39) |
F688S |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,455,480 (GRCm39) |
I196F |
probably damaging |
Het |
| Sprn |
G |
A |
7: 139,733,408 (GRCm39) |
|
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,787,292 (GRCm39) |
D242G |
probably benign |
Het |
| Srpk2 |
A |
G |
5: 23,733,017 (GRCm39) |
I111T |
probably damaging |
Het |
| St8sia4 |
T |
A |
1: 95,519,537 (GRCm39) |
Y317F |
probably benign |
Het |
| Stat5a |
T |
A |
11: 100,774,884 (GRCm39) |
*798K |
probably null |
Het |
| Sult1c2 |
C |
T |
17: 54,271,777 (GRCm39) |
V137M |
possibly damaging |
Het |
| Synj1 |
T |
C |
16: 90,735,361 (GRCm39) |
T1531A |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,193,885 (GRCm39) |
Y1028* |
probably null |
Het |
| Tax1bp1 |
A |
G |
6: 52,698,398 (GRCm39) |
T37A |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,648,768 (GRCm39) |
D1888V |
probably damaging |
Het |
| Tmco3 |
A |
C |
8: 13,341,741 (GRCm39) |
D5A |
probably benign |
Het |
| Tnk1 |
T |
A |
11: 69,747,532 (GRCm39) |
N74I |
possibly damaging |
Het |
| Ttc16 |
A |
T |
2: 32,662,162 (GRCm39) |
S120T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,774,448 (GRCm39) |
T2153S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,594,606 (GRCm39) |
V20480A |
probably damaging |
Het |
| Usp4 |
T |
C |
9: 108,251,441 (GRCm39) |
Y539H |
probably damaging |
Het |
| Zar1 |
A |
C |
5: 72,734,715 (GRCm39) |
V168G |
probably damaging |
Het |
| Zcchc9 |
T |
C |
13: 91,953,899 (GRCm39) |
K119E |
possibly damaging |
Het |
| Zfp251 |
T |
C |
15: 76,737,863 (GRCm39) |
N410S |
possibly damaging |
Het |
| Zfp605 |
A |
T |
5: 110,271,639 (GRCm39) |
D10V |
probably damaging |
Het |
| Zyg11a |
A |
T |
4: 108,062,479 (GRCm39) |
N107K |
possibly damaging |
Het |
|
| Other mutations in Tln1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Tln1
|
APN |
4 |
43,542,719 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL00987:Tln1
|
APN |
4 |
43,551,297 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01345:Tln1
|
APN |
4 |
43,536,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01456:Tln1
|
APN |
4 |
43,543,432 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01715:Tln1
|
APN |
4 |
43,555,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01750:Tln1
|
APN |
4 |
43,545,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01933:Tln1
|
APN |
4 |
43,555,894 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01933:Tln1
|
APN |
4 |
43,539,508 (GRCm39) |
missense |
probably benign |
|
|
IGL02119:Tln1
|
APN |
4 |
43,546,760 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02148:Tln1
|
APN |
4 |
43,555,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Tln1
|
APN |
4 |
43,546,857 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02522:Tln1
|
APN |
4 |
43,540,612 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02691:Tln1
|
APN |
4 |
43,539,544 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL02882:Tln1
|
APN |
4 |
43,539,522 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02892:Tln1
|
APN |
4 |
43,555,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Tln1
|
APN |
4 |
43,545,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Tln1
|
APN |
4 |
43,532,861 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03183:Tln1
|
APN |
4 |
43,539,084 (GRCm39) |
splice site |
probably benign |
|
|
H8786:Tln1
|
UTSW |
4 |
43,544,589 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4576001:Tln1
|
UTSW |
4 |
43,539,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4696001:Tln1
|
UTSW |
4 |
43,542,701 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0206:Tln1
|
UTSW |
4 |
43,549,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Tln1
|
UTSW |
4 |
43,549,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Tln1
|
UTSW |
4 |
43,553,504 (GRCm39) |
missense |
probably benign |
|
|
R0539:Tln1
|
UTSW |
4 |
43,543,434 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0548:Tln1
|
UTSW |
4 |
43,542,709 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0561:Tln1
|
UTSW |
4 |
43,550,304 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0606:Tln1
|
UTSW |
4 |
43,547,756 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0607:Tln1
|
UTSW |
4 |
43,553,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Tln1
|
UTSW |
4 |
43,544,645 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0847:Tln1
|
UTSW |
4 |
43,555,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0993:Tln1
|
UTSW |
4 |
43,549,825 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1255:Tln1
|
UTSW |
4 |
43,538,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1292:Tln1
|
UTSW |
4 |
43,534,578 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2169:Tln1
|
UTSW |
4 |
43,548,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Tln1
|
UTSW |
4 |
43,545,721 (GRCm39) |
missense |
probably benign |
|
|
R2202:Tln1
|
UTSW |
4 |
43,553,083 (GRCm39) |
splice site |
probably null |
|
|
R2680:Tln1
|
UTSW |
4 |
43,539,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3012:Tln1
|
UTSW |
4 |
43,542,525 (GRCm39) |
missense |
probably benign |
|
|
R3714:Tln1
|
UTSW |
4 |
43,540,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Tln1
|
UTSW |
4 |
43,549,370 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3794:Tln1
|
UTSW |
4 |
43,536,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Tln1
|
UTSW |
4 |
43,536,413 (GRCm39) |
splice site |
probably benign |
|
|
R3983:Tln1
|
UTSW |
4 |
43,553,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4061:Tln1
|
UTSW |
4 |
43,549,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4249:Tln1
|
UTSW |
4 |
43,536,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4287:Tln1
|
UTSW |
4 |
43,543,509 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4471:Tln1
|
UTSW |
4 |
43,551,018 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4562:Tln1
|
UTSW |
4 |
43,533,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Tln1
|
UTSW |
4 |
43,535,954 (GRCm39) |
missense |
probably null |
1.00 |
|
R4737:Tln1
|
UTSW |
4 |
43,540,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4936:Tln1
|
UTSW |
4 |
43,547,522 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5225:Tln1
|
UTSW |
4 |
43,539,406 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5288:Tln1
|
UTSW |
4 |
43,540,661 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5421:Tln1
|
UTSW |
4 |
43,533,609 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5445:Tln1
|
UTSW |
4 |
43,543,905 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5660:Tln1
|
UTSW |
4 |
43,547,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5772:Tln1
|
UTSW |
4 |
43,545,191 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6012:Tln1
|
UTSW |
4 |
43,539,508 (GRCm39) |
missense |
probably benign |
|
|
R6038:Tln1
|
UTSW |
4 |
43,555,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6038:Tln1
|
UTSW |
4 |
43,555,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6039:Tln1
|
UTSW |
4 |
43,555,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6039:Tln1
|
UTSW |
4 |
43,555,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6052:Tln1
|
UTSW |
4 |
43,555,052 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6145:Tln1
|
UTSW |
4 |
43,538,030 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6157:Tln1
|
UTSW |
4 |
43,534,744 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6242:Tln1
|
UTSW |
4 |
43,533,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6454:Tln1
|
UTSW |
4 |
43,533,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6467:Tln1
|
UTSW |
4 |
43,543,165 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6548:Tln1
|
UTSW |
4 |
43,547,525 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6576:Tln1
|
UTSW |
4 |
43,555,419 (GRCm39) |
splice site |
probably null |
|
|
R6722:Tln1
|
UTSW |
4 |
43,547,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6968:Tln1
|
UTSW |
4 |
43,550,217 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7000:Tln1
|
UTSW |
4 |
43,556,302 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7137:Tln1
|
UTSW |
4 |
43,540,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Tln1
|
UTSW |
4 |
43,542,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7294:Tln1
|
UTSW |
4 |
43,534,399 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7312:Tln1
|
UTSW |
4 |
43,545,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7547:Tln1
|
UTSW |
4 |
43,545,206 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7836:Tln1
|
UTSW |
4 |
43,554,309 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7874:Tln1
|
UTSW |
4 |
43,555,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7874:Tln1
|
UTSW |
4 |
43,538,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Tln1
|
UTSW |
4 |
43,535,737 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8105:Tln1
|
UTSW |
4 |
43,538,231 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8212:Tln1
|
UTSW |
4 |
43,555,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8416:Tln1
|
UTSW |
4 |
43,540,116 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8419:Tln1
|
UTSW |
4 |
43,536,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Tln1
|
UTSW |
4 |
43,553,041 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8708:Tln1
|
UTSW |
4 |
43,534,769 (GRCm39) |
splice site |
probably benign |
|
|
R8725:Tln1
|
UTSW |
4 |
43,555,911 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8727:Tln1
|
UTSW |
4 |
43,555,911 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8830:Tln1
|
UTSW |
4 |
43,556,383 (GRCm39) |
missense |
probably benign |
|
|
R8865:Tln1
|
UTSW |
4 |
43,538,281 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9049:Tln1
|
UTSW |
4 |
43,549,786 (GRCm39) |
nonsense |
probably null |
|
|
R9050:Tln1
|
UTSW |
4 |
43,549,786 (GRCm39) |
nonsense |
probably null |
|
|
R9145:Tln1
|
UTSW |
4 |
43,536,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Tln1
|
UTSW |
4 |
43,536,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9337:Tln1
|
UTSW |
4 |
43,532,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Tln1
|
UTSW |
4 |
43,546,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9358:Tln1
|
UTSW |
4 |
43,532,084 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9487:Tln1
|
UTSW |
4 |
43,542,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9631:Tln1
|
UTSW |
4 |
43,545,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Tln1
|
UTSW |
4 |
43,545,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Tln1
|
UTSW |
4 |
43,542,957 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF021:Tln1
|
UTSW |
4 |
43,555,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0052:Tln1
|
UTSW |
4 |
43,533,125 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0063:Tln1
|
UTSW |
4 |
43,548,015 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Tln1
|
UTSW |
4 |
43,543,211 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCAGCTTTCCTCAAGAGTCCCAAC -3'
(R):5'- TGTAGCCCCAGTGATGTCTACACC -3'
Sequencing Primer
(F):5'- AACCTCCAGCCCAGTCTTC -3'
(R):5'- AGAAGGTGACTGCTGATCTCC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation