Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00987:Tln1'

27361

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tln1

Ensembl Gene

ENSMUSG00000028465

Gene Name

talin 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00987

Quality Score

Status

Chromosome

Chromosomal Location

43531513-43562583 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 43551297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030187] [ENSMUST00000130353]

AlphaFold

P26039

Predicted Effect

probably benign
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

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 benign
Transcript: ENSMUST00000130353

SMART Domains

Protein: ENSMUSP00000119441
Gene: ENSMUSG00000028465

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134623

SMART Domains

Protein: ENSMUSP00000119956
Gene: ENSMUSG00000028465

Domain	Start	End	E-Value	Type
PDB:1U89\|A	2	106	9e-50	PDB
low complexity region	107	120	N/A	INTRINSIC

Coding Region Coverage

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot9	T	C	X: 154,078,177 (GRCm39)	I241T	probably benign	Het
Atp5mc3	T	A	2: 73,740,270 (GRCm39)	R19*	probably null	Het
Celf4	T	C	18: 25,620,007 (GRCm39)	D420G	probably damaging	Het
Cideb	C	A	14: 55,992,017 (GRCm39)	R179L	possibly damaging	Het
Cmtr1	G	A	17: 29,916,143 (GRCm39)	R591H	probably benign	Het
Dync1li2	A	T	8: 105,169,130 (GRCm39)	S34T	possibly damaging	Het
Eri2	A	G	7: 119,390,389 (GRCm39)	Y80H	probably damaging	Het
Eya2	A	G	2: 165,596,401 (GRCm39)	E304G	probably damaging	Het
Fam135a	A	C	1: 24,094,979 (GRCm39)	L130V	probably damaging	Het
Fancb	A	T	X: 163,774,594 (GRCm39)	K410N	probably damaging	Het
Gabpb2	A	C	3: 95,107,502 (GRCm39)	V191G	probably damaging	Het
Gfm1	A	G	3: 67,345,893 (GRCm39)	H197R	possibly damaging	Het
Gm11595	A	G	11: 99,663,365 (GRCm39)	V105A	unknown	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Herc1	G	T	9: 66,315,334 (GRCm39)	V1139L	probably benign	Het
Itgal	T	C	7: 126,901,183 (GRCm39)	F190L	probably damaging	Het
Krt87	G	A	15: 101,336,327 (GRCm39)	H109Y	probably benign	Het
Lmf2	T	C	15: 89,238,771 (GRCm39)	Y115C	probably benign	Het
Papolg	T	A	11: 23,826,377 (GRCm39)	Y259F	possibly damaging	Het
Parn	T	C	16: 13,485,467 (GRCm39)	I10V	probably benign	Het
Pdcd11	T	A	19: 47,102,989 (GRCm39)		probably benign	Het
Phldb2	T	A	16: 45,583,465 (GRCm39)	Q1003L	possibly damaging	Het
Pigg	T	A	5: 108,489,944 (GRCm39)	F850I	probably damaging	Het
Pkp4	T	C	2: 59,138,701 (GRCm39)	L317P	probably damaging	Het
Polr2a	T	C	11: 69,634,620 (GRCm39)		probably benign	Het
Prdm16	G	A	4: 154,426,426 (GRCm39)	T453M	possibly damaging	Het
Rnf144b	A	T	13: 47,360,969 (GRCm39)	E36D	possibly damaging	Het
Ryr2	G	A	13: 11,750,388 (GRCm39)	T1961I	probably damaging	Het
Sash1	T	A	10: 8,627,177 (GRCm39)	K305I	probably damaging	Het
Tbc1d7	A	T	13: 43,312,797 (GRCm39)	I32N	probably damaging	Het
Thop1	T	C	10: 80,917,529 (GRCm39)	F623L	probably damaging	Het
Thsd7b	G	A	1: 129,541,016 (GRCm39)	G297R	probably damaging	Het
Vmn1r183	A	G	7: 23,754,649 (GRCm39)	N151D	probably 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
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
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

Posted On

2013-04-17