Incidental Mutation 'R6052:Tln1'
ID 484137
Institutional Source Beutler Lab
Gene Symbol Tln1
Ensembl Gene ENSMUSG00000028465
Gene Name talin 1
Synonyms
MMRRC Submission 044220-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6052 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 43531513-43562583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 43555052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 259 (F259L)
Ref Sequence ENSEMBL: ENSMUSP00000030187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030187] [ENSMUST00000130353]
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: F259L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465
AA Change: F259L

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123985
Predicted Effect probably benign
Transcript: ENSMUST00000125509
SMART Domains Protein: ENSMUSP00000115681
Gene: ENSMUSG00000028465

DomainStartEndE-ValueType
Blast:IRS 2 28 2e-9 BLAST
PDB:2G35|A 2 29 3e-11 PDB
Pfam:Talin_middle 32 193 1.8e-61 PFAM
PDB:2L7A|A 215 279 1e-38 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126078
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127262
Predicted Effect probably benign
Transcript: ENSMUST00000130353
SMART Domains Protein: ENSMUSP00000119441
Gene: ENSMUSG00000028465

DomainStartEndE-ValueType
Blast:B41 1 39 9e-7 BLAST
B41 82 241 6.58e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130670
Meta Mutation Damage Score 0.4016 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.7%
Validation Efficiency 96% (80/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,537,165 (GRCm39) F473L probably benign Het
Ankrd17 T C 5: 90,401,691 (GRCm39) I1449V probably benign Het
Aox4 T A 1: 58,293,477 (GRCm39) L943* probably null Het
Arap1 G A 7: 101,053,240 (GRCm39) V1257M probably damaging Het
B3gnt9 T C 8: 105,981,230 (GRCm39) S53G probably benign Het
Baiap3 A T 17: 25,467,444 (GRCm39) probably benign Het
Canx T C 11: 50,187,946 (GRCm39) D554G possibly damaging Het
Cbfa2t2 T C 2: 154,352,501 (GRCm39) V165A probably damaging Het
Ccdc17 C T 4: 116,457,145 (GRCm39) probably null Het
Cdcp1 A G 9: 123,014,396 (GRCm39) I126T probably benign Het
Cdk13 A T 13: 17,895,800 (GRCm39) D1036E probably damaging Het
Cfap157 A G 2: 32,669,863 (GRCm39) L240P probably damaging Het
Clec18a C A 8: 111,805,448 (GRCm39) E218* probably null Het
Col3a1 T C 1: 45,384,173 (GRCm39) probably benign Het
Dennd4a A G 9: 64,794,227 (GRCm39) E682G probably damaging Het
Dnah14 T C 1: 181,494,052 (GRCm39) V1736A possibly damaging Het
Dpep2 T A 8: 106,717,270 (GRCm39) D162V possibly damaging Het
Drd3 C A 16: 43,641,646 (GRCm39) P321T probably benign Het
Egfr A G 11: 16,861,554 (GRCm39) H1111R probably benign Het
Entpd1 T C 19: 40,708,928 (GRCm39) S58P probably damaging Het
Epha3 C A 16: 63,423,967 (GRCm39) V541L possibly damaging Het
Eri3 T A 4: 117,421,825 (GRCm39) D34E probably damaging Het
Eya1 T C 1: 14,353,374 (GRCm39) D58G probably damaging Het
Fat3 T A 9: 15,833,975 (GRCm39) S26C probably null Het
Fgl1 T C 8: 41,653,548 (GRCm39) D115G probably damaging Het
Fitm2 T C 2: 163,312,036 (GRCm39) Y59C probably damaging Het
Fras1 T A 5: 96,912,725 (GRCm39) I3343N probably damaging Het
Gba2 C A 4: 43,568,330 (GRCm39) C679F probably damaging Het
Glis2 G A 16: 4,431,603 (GRCm39) probably benign Het
Gm5150 T A 3: 16,044,917 (GRCm39) I103F probably damaging Het
Hhipl2 T C 1: 183,204,965 (GRCm39) S313P possibly damaging Het
Hmgcs1 A G 13: 120,166,995 (GRCm39) D474G probably benign Het
Homer3 C T 8: 70,744,076 (GRCm39) Q267* probably null Het
Hsd17b8 A G 17: 34,246,429 (GRCm39) L118P probably damaging Het
Igkv8-28 C T 6: 70,120,673 (GRCm39) G90D probably damaging Het
Kalrn T A 16: 34,181,255 (GRCm39) I128F probably damaging Het
Krt4 A G 15: 101,831,194 (GRCm39) probably null Het
Lamb2 T A 9: 108,364,811 (GRCm39) C1188* probably null Het
Lsr A T 7: 30,658,042 (GRCm39) M355K probably damaging Het
Map3k11 T G 19: 5,747,430 (GRCm39) D555E probably benign Het
Myocd A G 11: 65,087,082 (GRCm39) Y282H probably damaging Het
Nae1 T C 8: 105,261,176 (GRCm39) I7M probably benign Het
Nprl3 G T 11: 32,205,453 (GRCm39) H102N possibly damaging Het
Nup62 T A 7: 44,478,464 (GRCm39) F160I possibly damaging Het
Or10w1 C A 19: 13,631,871 (GRCm39) P26Q possibly damaging Het
Or2d3c A T 7: 106,525,896 (GRCm39) F257I probably benign Het
Or2r2 T A 6: 42,463,588 (GRCm39) T180S possibly damaging Het
Or5p76 A G 7: 108,122,945 (GRCm39) S71P probably benign Het
Or6c35 C A 10: 129,169,071 (GRCm39) T107K possibly damaging Het
Osbpl10 T C 9: 114,896,383 (GRCm39) probably null Het
Pcdh9 C T 14: 94,123,282 (GRCm39) V963I probably benign Het
Phf12 A G 11: 77,909,044 (GRCm39) R375G probably benign Het
Piezo1 G A 8: 123,233,008 (GRCm39) T108M probably damaging Het
Plxnc1 T A 10: 94,779,635 (GRCm39) Q269L probably benign Het
Pomgnt1 T A 4: 116,008,799 (GRCm39) N11K possibly damaging Het
Pramel22 T A 4: 143,382,222 (GRCm39) D158V probably damaging Het
Prkd1 A T 12: 50,413,083 (GRCm39) probably null Het
Prpf40a T C 2: 53,049,293 (GRCm39) T190A probably benign Het
Prrc2b A C 2: 32,102,297 (GRCm39) H790P possibly damaging Het
Rest T G 5: 77,429,027 (GRCm39) V482G probably benign Het
Ros1 T A 10: 52,039,999 (GRCm39) I322L probably benign Het
Rpl18 G A 7: 45,369,554 (GRCm39) probably benign Het
Rsad2 G A 12: 26,500,577 (GRCm39) H237Y probably benign Het
Sbf2 A G 7: 110,040,741 (GRCm39) L362S probably damaging Het
Sgsm3 A G 15: 80,893,464 (GRCm39) T409A probably benign Het
Slc16a14 T C 1: 84,890,430 (GRCm39) T292A possibly damaging Het
Spg11 T G 2: 121,927,837 (GRCm39) K649T probably damaging Het
Srprb T A 9: 103,067,415 (GRCm39) I268F possibly damaging Het
Tap2 G A 17: 34,433,683 (GRCm39) G566S probably damaging Het
Tecpr2 T C 12: 110,885,325 (GRCm39) V168A possibly damaging Het
Tmem181a T A 17: 6,330,890 (GRCm39) L50H probably damaging Het
Tshz1 A G 18: 84,032,194 (GRCm39) I738T probably damaging Het
Tspan12 T C 6: 21,772,637 (GRCm39) E304G probably benign Het
Urb1 C T 16: 90,559,271 (GRCm39) G1671S probably damaging Het
Vmn2r2 T C 3: 64,024,782 (GRCm39) S600G possibly damaging Het
Wnt3 C A 11: 103,699,000 (GRCm39) Y35* probably null Het
Xpo7 T C 14: 70,921,159 (GRCm39) Y603C possibly damaging Het
Zfp457 G A 13: 67,442,015 (GRCm39) H91Y probably damaging Het
Zfp664 T A 5: 124,963,250 (GRCm39) C215S unknown Het
Zfp882 G A 8: 72,668,349 (GRCm39) G392D probably benign Het
Other mutations in Tln1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1752:Tln1 UTSW 4 43,536,311 (GRCm39) missense probably damaging 1.00
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
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'- GATACTGAGCAGTCCCATTCAG -3'
(R):5'- GGTGGAGCAAGCCATAGTTAAC -3'

Sequencing Primer
(F):5'- CATTCAGATGGGGCCAGTG -3'
(R):5'- AGCCATAGTTAACAGGGATATCC -3'
Posted On 2017-07-14