Mutagenetix > Incidental Mutation

Incidental Mutation 'R8030:Tln1'

617879

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 #

R8030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43531513-43562583 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 43535737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000030187

SMART Domains

Protein: ENSMUSP00000030187
Gene: ENSMUSG00000028465

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B09Rik	A	G	9: 14,672,970 (GRCm39)	S98P	probably benign	Het
Abca9	C	T	11: 110,011,534 (GRCm39)	V1170I	probably benign	Het
Acacb	A	G	5: 114,371,228 (GRCm39)	T1786A	probably damaging	Het
Acmsd	T	C	1: 127,676,898 (GRCm39)	I141T	possibly damaging	Het
Akr1c12	A	G	13: 4,322,244 (GRCm39)	V266A	possibly damaging	Het
Arhgef18	A	T	8: 3,489,600 (GRCm39)	I311F	probably damaging	Het
Armc2	T	A	10: 41,842,738 (GRCm39)	N355I	possibly damaging	Het
Armh1	T	A	4: 117,087,184 (GRCm39)	K160N	probably benign	Het
Asic1	A	T	15: 99,592,722 (GRCm39)	T236S	possibly damaging	Het
Avl9	T	A	6: 56,718,407 (GRCm39)	D424E	probably damaging	Het
Cbfa2t2	A	T	2: 154,357,816 (GRCm39)	Q197L	probably damaging	Het
Ccdc136	T	C	6: 29,417,141 (GRCm39)	V654A	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cplane1	G	T	15: 8,259,787 (GRCm39)	G2383V	probably damaging	Het
Cracr2a	A	G	6: 127,588,386 (GRCm39)	K182E	probably damaging	Het
Dpys	T	C	15: 39,691,486 (GRCm39)	T279A	possibly damaging	Het
Dsc1	A	T	18: 20,222,628 (GRCm39)	S615T	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Efcab14	A	G	4: 115,623,599 (GRCm39)	Q390R	probably benign	Het
Eif4ebp2	G	A	10: 61,270,825 (GRCm39)	A68V	probably damaging	Het
Fam81a	A	G	9: 70,010,191 (GRCm39)	S149P	probably benign	Het
Ffar4	A	G	19: 38,095,839 (GRCm39)	I193V	possibly damaging	Het
Flvcr2	T	A	12: 85,845,312 (GRCm39)	V377D	probably damaging	Het
Fscn1	C	T	5: 142,946,756 (GRCm39)	R185C	possibly damaging	Het
Gucy1b2	C	T	14: 62,630,319 (GRCm39)	S809N	probably benign	Het
H60b	T	A	10: 22,163,020 (GRCm39)	N198K	probably damaging	Het
Helz2	A	T	2: 180,879,689 (GRCm39)	F643Y	possibly damaging	Het
Kash5	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 44,837,608 (GRCm39)		probably benign	Het
Kif28	A	G	1: 179,526,629 (GRCm39)	V846A	probably benign	Het
Kirrel1	C	A	3: 87,005,082 (GRCm39)	G89W	probably damaging	Het
Krt42	G	C	11: 100,155,865 (GRCm39)	R294G	possibly damaging	Het
Mb21d2	A	G	16: 28,646,555 (GRCm39)	F473S	probably damaging	Het
Mcrip2	G	A	17: 26,083,306 (GRCm39)	Q111*	probably null	Het
Msh5	A	G	17: 35,248,724 (GRCm39)	Y741H	possibly damaging	Het
Myo7b	A	G	18: 32,131,135 (GRCm39)	I544T	probably damaging	Het
Nav1	T	C	1: 135,464,977 (GRCm39)	E276G	probably damaging	Het
Nr2f1	T	C	13: 78,343,565 (GRCm39)	N233S	probably benign	Het
Nrip2	A	T	6: 128,383,484 (GRCm39)	D124V	possibly damaging	Het
Or5al1	C	T	2: 85,990,586 (GRCm39)	V43I	probably benign	Het
Or8k16	T	A	2: 85,520,063 (GRCm39)	C97S	probably damaging	Het
Panx2	G	T	15: 88,952,282 (GRCm39)	A250S	probably damaging	Het
Pdc	T	C	1: 150,208,964 (GRCm39)	L149P	probably damaging	Het
Pex5l	T	A	3: 33,008,568 (GRCm39)	I445F	possibly damaging	Het
Pigc	T	C	1: 161,798,116 (GRCm39)	F33L	probably damaging	Het
Pkp2	A	T	16: 16,064,774 (GRCm39)	M433L	probably benign	Het
Rbfox2	A	G	15: 76,969,776 (GRCm39)		probably null	Het
Rd3l	A	G	12: 111,946,584 (GRCm39)	L64P	possibly damaging	Het
Rnf220	A	G	4: 117,135,025 (GRCm39)	Y409H	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Sel1l2	T	C	2: 140,082,938 (GRCm39)	T567A	probably damaging	Het
Slc22a8	T	C	19: 8,587,371 (GRCm39)	I477T	probably damaging	Het
Sltm	C	T	9: 70,493,261 (GRCm39)	R753*	probably null	Het
Specc1l	T	A	10: 75,084,389 (GRCm39)	M687K	probably damaging	Het
Spock3	T	G	8: 63,805,232 (GRCm39)	C338G	probably damaging	Het
Ssh2	C	A	11: 77,345,332 (GRCm39)	Q1106K	probably benign	Het
Sycp2l	A	G	13: 41,326,146 (GRCm39)	M251V	not run	Het
Tdrd5	C	A	1: 156,098,165 (GRCm39)	E711*	probably null	Het
Thop1	T	C	10: 80,911,450 (GRCm39)	M112T	possibly damaging	Het
Ttc28	A	C	5: 111,433,922 (GRCm39)	I2319L	possibly damaging	Het
Ttll11	A	G	2: 35,792,685 (GRCm39)	I386T	probably damaging	Het
Txndc8	T	C	4: 57,984,178 (GRCm39)	E151G	probably damaging	Het
Ubr1	T	C	2: 120,764,855 (GRCm39)	E533G	probably damaging	Het
Zscan4f	A	G	7: 11,135,290 (GRCm39)	H232R	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
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
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'- AGTTCCTGACGTATGTGCTCTG -3'
(R):5'- TCGCTGATGTGGTCAAGCTC -3'

Sequencing Primer
(F):5'- GCTCTGTGGTTGCCTCTAG -3'
(R):5'- TGGTCAAGCTCGGTGCAG -3'

Posted On

2020-01-23