Mutagenetix > Incidental Mutation

Incidental Mutation 'R8830:Tln1'

673737

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 #

R8830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43531513-43562583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43556383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 45 (N45S)

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 benign
Transcript: ENSMUST00000030187
AA Change: N45S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465
AA Change: N45S

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

probably benign
Transcript: ENSMUST00000130353
AA Change: N45S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119441
Gene: ENSMUSG00000028465
AA Change: N45S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	T	3: 59,654,744 (GRCm39)	T193S	probably benign	Het
Abca7	T	A	10: 79,844,805 (GRCm39)	V1509E	probably damaging	Het
Abraxas2	A	G	7: 132,485,085 (GRCm39)	D376G	probably damaging	Het
Agbl1	A	G	7: 75,985,059 (GRCm39)	T159A		Het
Ahnak2	G	A	12: 112,750,656 (GRCm39)	R89W		Het
Ajm1	T	G	2: 25,467,262 (GRCm39)	D883A		Het
Arhgef40	A	C	14: 52,241,165 (GRCm39)	D1396A	probably damaging	Het
Atp13a5	A	T	16: 29,066,928 (GRCm39)	F1060I	probably damaging	Het
Atp6v1c1	T	A	15: 38,677,789 (GRCm39)	F105I	probably damaging	Het
Atp9b	C	T	18: 80,809,015 (GRCm39)	E635K		Het
Brix1	T	A	15: 10,479,682 (GRCm39)	Q124L	possibly damaging	Het
Cep68	A	G	11: 20,180,418 (GRCm39)		probably benign	Het
Cfap46	A	G	7: 139,195,565 (GRCm39)	S2208P	unknown	Het
Crisp1	T	A	17: 40,605,310 (GRCm39)	K234*	probably null	Het
Cryzl1	C	T	16: 91,509,092 (GRCm39)	V70I	probably benign	Het
Cybc1	C	T	11: 121,119,549 (GRCm39)		probably benign	Het
Dnah7b	T	C	1: 46,230,953 (GRCm39)	Y1404H	probably damaging	Het
Dot1l	A	G	10: 80,607,033 (GRCm39)	H109R	possibly damaging	Het
E330034G19Rik	A	C	14: 24,359,576 (GRCm39)	H329P	unknown	Het
Erbb4	A	T	1: 68,114,627 (GRCm39)	L939Q	probably damaging	Het
Fst	A	T	13: 114,592,364 (GRCm39)	C118S	probably damaging	Het
Gfra3	A	G	18: 34,844,189 (GRCm39)	V117A	possibly damaging	Het
Gldc	C	G	19: 30,078,212 (GRCm39)	M928I	probably benign	Het
Greb1	A	G	12: 16,738,520 (GRCm39)	M1481T	probably benign	Het
Hecw2	G	A	1: 53,930,305 (GRCm39)	R1045C	probably damaging	Het
Hexb	C	T	13: 97,330,762 (GRCm39)	V84I	probably benign	Het
Hpse	T	C	5: 100,843,452 (GRCm39)	E240G	probably benign	Het
Hspa12a	T	C	19: 58,793,895 (GRCm39)	D322G	possibly damaging	Het
Hspa9	A	T	18: 35,081,157 (GRCm39)		probably null	Het
Kif9	A	G	9: 110,353,998 (GRCm39)	K790R	probably damaging	Het
Klc2	C	T	19: 5,160,394 (GRCm39)		probably null	Het
Ldha	C	G	7: 46,499,702 (GRCm39)	N144K	probably benign	Het
Mical2	A	G	7: 111,980,403 (GRCm39)	T126A	probably benign	Het
Mrpl15	A	T	1: 4,852,807 (GRCm39)	V137D	probably damaging	Het
Muc16	G	A	9: 18,557,365 (GRCm39)	T2976I	unknown	Het
Mybpc2	A	T	7: 44,161,965 (GRCm39)	V495D	probably damaging	Het
Or10a5	A	G	7: 106,635,889 (GRCm39)	N176D	probably benign	Het
Or52ab2	A	G	7: 102,970,212 (GRCm39)	K198R		Het
Or6c203	A	T	10: 129,010,715 (GRCm39)	Y58*	probably null	Het
Pcnt	G	A	10: 76,218,008 (GRCm39)	T2089I	probably benign	Het
Pdzd7	T	C	19: 45,021,512 (GRCm39)	D563G	probably damaging	Het
Phlpp1	T	G	1: 106,278,333 (GRCm39)	L915R	probably damaging	Het
Plekhh2	T	A	17: 84,829,231 (GRCm39)	I34N	probably damaging	Het
Pou6f2	T	A	13: 18,553,083 (GRCm39)	T84S		Het
Prxl2c	G	A	13: 64,445,114 (GRCm39)	Q170*	probably null	Het
Ptprq	A	G	10: 107,422,556 (GRCm39)	V1612A	possibly damaging	Het
Pvrig-ps	T	G	5: 138,340,410 (GRCm39)		probably benign	Het
Rasl10b	A	T	11: 83,303,502 (GRCm39)	I20F	probably damaging	Het
Rimbp3	T	A	16: 17,026,870 (GRCm39)	V98E	probably damaging	Het
Rims2	T	C	15: 39,300,758 (GRCm39)	I355T	possibly damaging	Het
Slc1a2	A	G	2: 102,566,360 (GRCm39)	H30R	probably benign	Het
Slc28a1	G	A	7: 80,810,794 (GRCm39)	V389M	possibly damaging	Het
Slc7a13	T	C	4: 19,819,189 (GRCm39)	S130P	probably benign	Het
Sp140	TTTTTTTT	TTTTTTTTTTTTT	1: 85,572,295 (GRCm39)		probably benign	Het
Spag17	T	A	3: 100,032,751 (GRCm39)	H2320Q	possibly damaging	Het
Speer4a1	T	C	5: 26,241,793 (GRCm39)	E111G	possibly damaging	Het
Ss18l1	T	C	2: 179,709,131 (GRCm39)	Y397H	unknown	Het
Tbck	T	C	3: 132,543,818 (GRCm39)	S890P	probably damaging	Het
Tcp11	T	C	17: 28,299,204 (GRCm39)	E17G	probably benign	Het
Tesk2	C	T	4: 116,659,484 (GRCm39)	R315C	probably benign	Het
Trim10	C	T	17: 37,180,846 (GRCm39)	P26S	probably damaging	Het
Vmac	C	A	17: 57,022,573 (GRCm39)	G146C	probably damaging	Het
Vmn1r14	G	A	6: 57,211,017 (GRCm39)	M198I	probably damaging	Het
Vmn1r194	T	C	13: 22,429,006 (GRCm39)	Y208H	possibly damaging	Het
Vmn1r78	G	A	7: 11,887,118 (GRCm39)	C243Y	probably damaging	Het
Wasf3	C	T	5: 146,403,672 (GRCm39)	Q261*	probably null	Het
Ybx2	A	G	11: 69,827,063 (GRCm39)	K88R	probably benign	Het
Zfhx4	G	A	3: 5,463,949 (GRCm39)	R1394H	probably damaging	Het
Zfp871	T	C	17: 32,993,901 (GRCm39)	T425A	probably benign	Het
Zfy2	C	T	Y: 2,106,600 (GRCm39)	S678N	possibly damaging	Het
Zswim4	T	C	8: 84,949,945 (GRCm39)	E650G	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
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'- TAGCTTGGCTGGTGAAAAGC -3'
(R):5'- AGTGTCCCCGTTGTGTTCTAAG -3'

Sequencing Primer
(F):5'- CTGGTGAAAAGCCCAGGATG -3'
(R):5'- AAGTTCCTCACCTCTCAGGC -3'

Posted On

2021-07-15