Mutagenetix > Incidental Mutation

Incidental Mutation 'RF021:Tln1'

603872

Institutional Source

Beutler Lab

Gene Symbol

Tln1

Ensembl Gene

ENSMUSG00000028465

Gene Name

talin 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43531513-43562583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43555890 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

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: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465
AA Change: V108A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123985

Predicted Effect

probably benign
Transcript: ENSMUST00000125509

SMART Domains

Protein: ENSMUSP00000115681
Gene: ENSMUSG00000028465

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000130353
AA Change: V108A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119441
Gene: ENSMUSG00000028465
AA Change: V108A

Domain	Start	End	E-Value	Type
Blast:B41	1	39	9e-7	BLAST
B41	82	241	6.58e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130670

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
Ankrd44	T	C	1: 54,817,471 (GRCm39)	H79R	probably damaging	Het
Atg9a	T	A	1: 75,159,273 (GRCm39)	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,630,905 (GRCm39)	V224A	probably benign	Het
Bltp1	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,104,897 (GRCm39)		probably benign	Het
Cpn2	G	A	16: 30,078,156 (GRCm39)	A515V	probably benign	Het
Cyp2a12	T	C	7: 26,734,785 (GRCm39)	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,327,752 (GRCm39)		probably benign	Het
Dnah10	G	T	5: 124,854,971 (GRCm39)	V2016F	probably damaging	Het
Dock10	T	C	1: 80,542,290 (GRCm39)		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,602,084 (GRCm39)		probably benign	Het
Fam131a	A	C	16: 20,513,690 (GRCm39)		probably benign	Het
Gm7247	AGACCAGACC	A	14: 51,601,781 (GRCm39)		probably benign	Het
Gna13	T	C	11: 109,283,218 (GRCm39)	V186A	probably benign	Het
Grk3	T	A	5: 113,089,554 (GRCm39)	I333L	probably benign	Het
Gstp1	A	T	19: 4,085,507 (GRCm39)	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,453,289 (GRCm39)	V74G	possibly damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Kiz	A	G	2: 146,712,750 (GRCm39)	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,285,782 (GRCm39)		probably benign	Het
Lats1	A	G	10: 7,586,372 (GRCm39)	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 92,925,576 (GRCm39)		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 92,925,602 (GRCm39)		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,810,744 (GRCm39)		probably null	Het
Med12l	T	C	3: 58,980,711 (GRCm39)	F359S	probably benign	Het
Mmut	A	G	17: 41,262,649 (GRCm39)	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,219,333 (GRCm39)		probably benign	Het
Ngp	A	G	9: 110,250,824 (GRCm39)	T114A	possibly damaging	Het
Nlrc5	A	T	8: 95,203,516 (GRCm39)	T539S	probably benign	Het
Nxf1	A	G	19: 8,749,673 (GRCm39)	D190G	probably damaging	Het
Or6c2b	A	T	10: 128,948,211 (GRCm39)	F28I	probably damaging	Het
Or8g2	A	T	9: 39,821,341 (GRCm39)	M81L	probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,609,956 (GRCm39)	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 155,938,026 (GRCm39)		probably benign	Het
Sema3g	C	T	14: 30,949,798 (GRCm39)	H660Y	probably damaging	Het
Slco1a8	A	T	6: 141,954,440 (GRCm39)	V31E	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,608,397 (GRCm39)		probably benign	Het
Stpg2	A	T	3: 138,918,011 (GRCm39)		probably null	Het
Taar7f	C	T	10: 23,926,321 (GRCm39)	T305M	possibly damaging	Het
Tbcb	C	T	7: 29,923,771 (GRCm39)	V208M	probably damaging	Het
Tenm2	T	A	11: 35,915,030 (GRCm39)	Q2169L	possibly damaging	Het
Tmc8	T	C	11: 117,674,060 (GRCm39)	M42T	probably benign	Het
Trdc	T	C	14: 54,381,660 (GRCm39)	V115A		Het
Ttbk2	A	G	2: 120,579,115 (GRCm39)	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,223,553 (GRCm39)		probably benign	Het
Utp25	A	G	1: 192,802,974 (GRCm39)	F248L	probably benign	Het
Vps16	A	G	2: 130,280,129 (GRCm39)	H118R	probably benign	Het
Wdpcp	T	A	11: 21,661,587 (GRCm39)	C286*	probably null	Het
Zbed4	C	A	15: 88,665,439 (GRCm39)	Y502*	probably null	Het
Zdbf2	T	A	1: 63,341,811 (GRCm39)	N63K	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
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
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'- AGCTCTCGAACCAGTGAATACTC -3'
(R):5'- TTTTCTGACACAGGCAGCC -3'

Sequencing Primer
(F):5'- CCAGTGAATACTCATCATGGTTGG -3'
(R):5'- TCCTTCTAGATGAACCACCCTAG -3'

Posted On

2019-12-04