Incidental Mutation 'R6467:Tln1'
ID 516629
Institutional Source Beutler Lab
Gene Symbol Tln1
Ensembl Gene ENSMUSG00000028465
Gene Name talin 1
Synonyms
MMRRC Submission 044600-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6467 (G1)
Quality Score 185.009
Status Validated
Chromosome 4
Chromosomal Location 43531513-43562583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43543165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 1333 (S1333I)
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 benign
Transcript: ENSMUST00000030187
AA Change: S1333I

PolyPhen 2 Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465
AA Change: S1333I

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 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 probably benign
Transcript: ENSMUST00000134623
SMART Domains Protein: ENSMUSP00000119956
Gene: ENSMUSG00000028465

DomainStartEndE-ValueType
PDB:1U89|A 2 106 9e-50 PDB
low complexity region 107 120 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 99% (72/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b T C 15: 101,092,722 (GRCm39) W122R possibly damaging Het
Adgrv1 C T 13: 81,592,657 (GRCm39) R4294H probably benign Het
Afdn A G 17: 14,024,315 (GRCm39) T74A probably damaging Het
Aff3 T A 1: 38,247,098 (GRCm39) D829V probably benign Het
Akr1c12 T C 13: 4,325,772 (GRCm39) Q107R probably benign Het
Apc T A 18: 34,402,252 (GRCm39) F131I probably benign Het
Atosb A T 4: 43,033,687 (GRCm39) F489I probably damaging Het
Atp13a1 T A 8: 70,259,424 (GRCm39) L1036H probably damaging Het
BC035044 A C 6: 128,867,855 (GRCm39) probably benign Het
C1rl A G 6: 124,485,535 (GRCm39) D302G probably benign Het
C2cd6 A C 1: 59,117,093 (GRCm39) D133E probably benign Het
Cacna1c T A 6: 118,629,671 (GRCm39) Y1061F probably damaging Het
Cav1 A G 6: 17,308,034 (GRCm39) D62G probably damaging Het
Ccdc77 T C 6: 120,327,242 (GRCm39) M68V probably damaging Het
Cd55 A T 1: 130,375,348 (GRCm39) probably benign Het
Cdc27 C A 11: 104,413,602 (GRCm39) A380S probably damaging Het
Cenpb A T 2: 131,021,477 (GRCm39) I107K probably damaging Het
Cep135 T G 5: 76,769,187 (GRCm39) H612Q possibly damaging Het
Chd1l A T 3: 97,470,849 (GRCm39) N815K probably damaging Het
Cldn20 C T 17: 3,582,992 (GRCm39) T55M possibly damaging Het
Depdc1a A T 3: 159,221,679 (GRCm39) I208L probably benign Het
Dgkb C T 12: 38,134,223 (GRCm39) A43V possibly damaging Het
Dgkb C T 12: 38,654,104 (GRCm39) T741I probably damaging Het
Dhx16 A G 17: 36,197,076 (GRCm39) N653S probably damaging Het
Dnah5 T A 15: 28,438,329 (GRCm39) S3987T probably benign Het
Dnai4 T C 4: 102,906,758 (GRCm39) D685G probably damaging Het
Dst T A 1: 34,334,277 (GRCm39) I4835N probably damaging Het
Esrrb A G 12: 86,561,114 (GRCm39) I288V probably damaging Het
Fnta C T 8: 26,497,341 (GRCm39) W169* probably null Het
Golga4 T C 9: 118,365,860 (GRCm39) L304P probably damaging Het
Hace1 A G 10: 45,466,362 (GRCm39) probably null Het
Ino80b G T 6: 83,101,112 (GRCm39) probably null Het
Kcmf1 G A 6: 72,820,082 (GRCm39) R306C probably damaging Het
Lrrc46 G A 11: 96,927,305 (GRCm39) T92I possibly damaging Het
Man2b1 T C 8: 85,824,076 (GRCm39) V991A possibly damaging Het
Mga A G 2: 119,776,776 (GRCm39) N1770S probably damaging Het
Mgat4e T C 1: 134,468,944 (GRCm39) T367A probably benign Het
Mtr A G 13: 12,202,992 (GRCm39) S1204P probably damaging Het
Myo15a G A 11: 60,417,487 (GRCm39) probably null Het
Nktr T C 9: 121,560,585 (GRCm39) S74P probably damaging Het
Noct T C 3: 51,157,508 (GRCm39) V282A possibly damaging Het
Nol11 A T 11: 107,071,912 (GRCm39) I227K possibly damaging Het
Nsd3 T A 8: 26,130,646 (GRCm39) S4T probably damaging Het
Or5m10b T A 2: 85,699,714 (GRCm39) Y259* probably null Het
Or5p64 A G 7: 107,855,109 (GRCm39) S79P probably damaging Het
Pds5a T A 5: 65,809,782 (GRCm39) L393F probably damaging Het
Prex2 C T 1: 11,336,259 (GRCm39) R1486C probably damaging Het
Rc3h2 T C 2: 37,272,028 (GRCm39) T768A probably damaging Het
Rin3 A T 12: 102,335,584 (GRCm39) E418D probably benign Het
Rnf214 G T 9: 45,778,886 (GRCm39) T586N probably damaging Het
Samd4b A G 7: 28,101,285 (GRCm39) S667P probably damaging Het
Sec14l2 T C 11: 4,061,161 (GRCm39) Y100C probably damaging Het
Slc46a2 T C 4: 59,914,077 (GRCm39) E282G probably benign Het
Themis A C 10: 28,657,762 (GRCm39) N110T possibly damaging Het
Tmem53 T C 4: 117,125,625 (GRCm39) V224A possibly damaging Het
Tmtc4 T A 14: 123,163,391 (GRCm39) K664N possibly damaging Het
Tnni3k T C 3: 154,674,922 (GRCm39) D201G probably damaging Het
Tnxb A G 17: 34,912,898 (GRCm39) E1681G probably damaging Het
Trhde A T 10: 114,340,103 (GRCm39) D567E probably damaging Het
Tsc2 T C 17: 24,828,101 (GRCm39) M788V probably benign Het
Ube3a A G 7: 58,926,650 (GRCm39) Y476C probably damaging Het
Ubiad1 T C 4: 148,520,682 (GRCm39) N314S possibly damaging Het
Unc79 T A 12: 103,139,771 (GRCm39) N2375K probably damaging Het
Vmn2r107 A T 17: 20,595,939 (GRCm39) I831F probably damaging Het
Vwa3b T A 1: 37,124,367 (GRCm39) C322S probably benign Het
Wnk1 A T 6: 119,939,916 (GRCm39) H238Q probably benign Het
Wnk2 A G 13: 49,300,081 (GRCm39) Y210H probably damaging Het
Wwc2 T C 8: 48,304,943 (GRCm39) D894G unknown Het
Yes1 T A 5: 32,810,381 (GRCm39) F180Y probably damaging Het
Yju2b T C 8: 84,985,318 (GRCm39) E317G probably benign Het
Zbtb46 T C 2: 181,033,062 (GRCm39) Y533C probably damaging Het
Zfp57 T C 17: 37,316,942 (GRCm39) S7P possibly damaging Het
Zzef1 T C 11: 72,802,090 (GRCm39) probably null 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
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
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'- TTGATGCTGTCCGTCACTG -3'
(R):5'- ATACTTGGGAAAGGGCGTCC -3'

Sequencing Primer
(F):5'- GTCCGTCACTGCCCTGATG -3'
(R):5'- CGTCCTTTTAGAGACAGGCATGAC -3'
Posted On 2018-05-21