Mutagenetix > Incidental Mutation

Incidental Mutation 'R1255:Tln1'

151407

Institutional Source

Beutler Lab

Gene Symbol

Tln1

Ensembl Gene

ENSMUSG00000028465

Gene Name

talin 1

Synonyms

MMRRC Submission

039322-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1255 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43531513-43562583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43538044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1852 (D1852G)

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: D1852G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465
AA Change: D1852G

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: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.9%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,807,016 (GRCm39)	S21C	probably damaging	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Acsf3	T	C	8: 123,512,705 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,965 (GRCm39)		probably null	Het
Antxr2	A	T	5: 98,123,231 (GRCm39)	I272N	probably benign	Het
Asphd2	A	C	5: 112,539,677 (GRCm39)	V52G	probably damaging	Het
Atxn3	T	A	12: 101,900,593 (GRCm39)	Q230L	probably damaging	Het
Bltp3b	T	C	10: 89,581,132 (GRCm39)	I9T	probably damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Ciz1	T	A	2: 32,255,888 (GRCm39)		probably null	Het
Dennd5b	A	T	6: 148,943,148 (GRCm39)	M576K	possibly damaging	Het
Ebf3	C	T	7: 136,826,941 (GRCm39)	V315I	probably benign	Het
Epha5	G	T	5: 84,298,254 (GRCm39)	A383E	probably damaging	Het
Epha5	C	T	5: 84,298,255 (GRCm39)	A383T	probably damaging	Het
Gimap1	T	A	6: 48,719,940 (GRCm39)	V184E	probably benign	Het
Gtf2f1	A	G	17: 57,317,982 (GRCm39)	V18A	probably damaging	Het
Kcnn3	A	T	3: 89,559,416 (GRCm39)	D562V	possibly damaging	Het
Kif20b	A	G	19: 34,927,506 (GRCm39)	T883A	probably benign	Het
Kmt2c	A	T	5: 25,556,151 (GRCm39)	L1198Q	probably damaging	Het
Nipal2	T	C	15: 34,584,828 (GRCm39)	I247V	probably benign	Het
Or5ak22	T	A	2: 85,230,647 (GRCm39)	I77F	probably damaging	Het
Rad51ap2	G	T	12: 11,508,095 (GRCm39)	K672N	possibly damaging	Het
Rbm28	C	T	6: 29,158,246 (GRCm39)	G155D	probably damaging	Het
Sema6a	A	T	18: 47,382,366 (GRCm39)	M701K	probably damaging	Het
Slc47a1	A	T	11: 61,260,974 (GRCm39)	L142Q	probably damaging	Het
Snx25	A	T	8: 46,569,275 (GRCm39)	N207K	probably benign	Het
Son	T	A	16: 91,461,583 (GRCm39)	V205E	probably damaging	Het
Spz1	C	A	13: 92,712,138 (GRCm39)	V113F	probably benign	Het
Tcn2	T	C	11: 3,872,120 (GRCm39)	T336A	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfp729a	T	C	13: 67,769,965 (GRCm39)	E88G	probably benign	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
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
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'- ACCTCTTCATTTTCAGCAGCCACAG -3'
(R):5'- CACTCAGGCCATCAACCAGGTTAG -3'

Sequencing Primer
(F):5'- AGTCGGCCATAGTCACTGG -3'
(R):5'- TCAACCAGGTTAGCGCCTC -3'

Posted On

2014-01-29