Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03370:Tns1'

420257

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tns1

Ensembl Gene

ENSMUSG00000055322

Gene Name

tensin 1

Synonyms

E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

IGL03370

Quality Score

Status

Chromosome

Chromosomal Location

73949390-74163608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74025053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 387 (V387M)

Ref Sequence

ENSEMBL: ENSMUSP00000148638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000212888]

AlphaFold

E9Q0S6

Predicted Effect

probably damaging
Transcript: ENSMUST00000169786
AA Change: V387M

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

SMART Domains

Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: V387M

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
C1	62	108	1.77e-2	SMART
low complexity region	154	167	N/A	INTRINSIC
SCOP:d1d5ra2	176	348	3e-32	SMART
PTEN_C2	350	477	1.12e-51	SMART
low complexity region	822	833	N/A	INTRINSIC
low complexity region	905	922	N/A	INTRINSIC
low complexity region	1227	1239	N/A	INTRINSIC
low complexity region	1284	1300	N/A	INTRINSIC
low complexity region	1459	1470	N/A	INTRINSIC
low complexity region	1518	1530	N/A	INTRINSIC
SH2	1614	1716	6.85e-17	SMART
PTB	1747	1888	1.69e-29	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000185331
AA Change: V217M

Predicted Effect

unknown
Transcript: ENSMUST00000185702
AA Change: V217M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186381

Predicted Effect

probably damaging
Transcript: ENSMUST00000187584
AA Change: V343M

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

SMART Domains

Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: V343M

Domain	Start	End	E-Value	Type
C1	21	67	8.6e-5	SMART
low complexity region	113	124	N/A	INTRINSIC
PTPc_DSPc	197	319	9.9e-6	SMART
PTEN_C2	306	433	5.6e-56	SMART
low complexity region	778	789	N/A	INTRINSIC
low complexity region	861	878	N/A	INTRINSIC
low complexity region	1162	1174	N/A	INTRINSIC
low complexity region	1219	1235	N/A	INTRINSIC
low complexity region	1394	1405	N/A	INTRINSIC
low complexity region	1453	1465	N/A	INTRINSIC
SH2	1549	1651	4.3e-19	SMART
PTB	1682	1823	9e-32	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188942

Predicted Effect

probably damaging
Transcript: ENSMUST00000191104
AA Change: V387M

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

SMART Domains

Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: V387M

Domain	Start	End	E-Value	Type
low complexity region	15	33	N/A	INTRINSIC
C1	62	108	8.6e-5	SMART
low complexity region	154	167	N/A	INTRINSIC
PTPc_DSPc	241	363	9.9e-6	SMART
PTEN_C2	350	477	5.6e-56	SMART
low complexity region	822	833	N/A	INTRINSIC
low complexity region	905	922	N/A	INTRINSIC
low complexity region	1206	1218	N/A	INTRINSIC
low complexity region	1263	1279	N/A	INTRINSIC
low complexity region	1438	1449	N/A	INTRINSIC
low complexity region	1497	1509	N/A	INTRINSIC
SH2	1593	1695	4.3e-19	SMART
PTB	1726	1867	9e-32	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000212888
AA Change: V387M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191264

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female fertility, and develop kidney cysts and progressive kidney degeneration that may lead to death from renal failure. [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
Actl7b	A	G	4: 56,741,173 (GRCm39)	Y62H	probably damaging	Het
Cfap52	A	G	11: 67,829,881 (GRCm39)	I296T	probably damaging	Het
Col14a1	A	G	15: 55,351,937 (GRCm39)		probably null	Het
Daam2	G	T	17: 49,793,529 (GRCm39)	D329E	probably benign	Het
Defb26	A	G	2: 152,349,902 (GRCm39)	V126A	probably benign	Het
Fasn	A	T	11: 120,703,621 (GRCm39)	I1535N	possibly damaging	Het
Fbxw15	A	T	9: 109,384,219 (GRCm39)	Y431N	probably benign	Het
Fbxw26	T	G	9: 109,575,087 (GRCm39)	I13L	probably damaging	Het
Fggy	A	T	4: 95,710,301 (GRCm39)	H300L	probably damaging	Het
Fndc3c1	G	A	X: 105,464,307 (GRCm39)	T1277I	probably benign	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Kif26b	G	A	1: 178,742,946 (GRCm39)	R567H	probably benign	Het
Kpna6	G	A	4: 129,549,314 (GRCm39)	T156M	probably damaging	Het
Lrrc37a	C	T	11: 103,388,499 (GRCm39)	E2309K	unknown	Het
Lyn	T	C	4: 3,780,931 (GRCm39)	Y357H	possibly damaging	Het
Mki67	A	G	7: 135,297,219 (GRCm39)	V2605A	probably benign	Het
Mtmr3	T	C	11: 4,437,385 (GRCm39)	D1023G	probably damaging	Het
Muc5b	G	T	7: 141,418,514 (GRCm39)	R3820L	probably benign	Het
Mus81	A	G	19: 5,534,991 (GRCm39)		probably benign	Het
Nup188	A	G	2: 30,230,653 (GRCm39)	Y1397C	possibly damaging	Het
Pgd	A	T	4: 149,249,685 (GRCm39)	V29D	probably damaging	Het
Plch2	T	C	4: 155,071,371 (GRCm39)	S244G	probably benign	Het
Rapgef5	C	A	12: 117,694,294 (GRCm39)	T372K	probably damaging	Het
Rb1	A	G	14: 73,520,306 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,586,944 (GRCm39)	V2680E	possibly damaging	Het
Sgsm3	A	C	15: 80,895,855 (GRCm39)		probably null	Het
Slc38a1	C	T	15: 96,477,228 (GRCm39)	V362I	possibly damaging	Het
Sun1	T	A	5: 139,216,886 (GRCm39)	D308E	probably damaging	Het
Ttn	C	A	2: 76,582,083 (GRCm39)	G22937C	probably damaging	Het
Ubr1	C	A	2: 120,725,641 (GRCm39)	A1258S	probably benign	Het
Vmn2r74	A	G	7: 85,607,265 (GRCm39)	F153L	probably benign	Het

Other mutations in Tns1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Tns1	APN	1	73,964,128 (GRCm39)	missense	probably damaging	0.99
IGL01288:Tns1	APN	1	73,992,969 (GRCm39)	missense	probably damaging	1.00
IGL01536:Tns1	APN	1	73,958,807 (GRCm39)	splice site	probably benign
IGL01568:Tns1	APN	1	73,992,668 (GRCm39)	missense	probably damaging	1.00
IGL01683:Tns1	APN	1	73,992,428 (GRCm39)	missense	probably damaging	0.98
IGL02267:Tns1	APN	1	74,031,290 (GRCm39)	missense	possibly damaging	0.95
IGL02597:Tns1	APN	1	74,025,032 (GRCm39)	critical splice donor site	probably null
IGL02819:Tns1	APN	1	73,976,407 (GRCm39)	missense	probably damaging	0.99
R0087:Tns1	UTSW	1	73,956,076 (GRCm39)	missense	possibly damaging	0.95
R0207:Tns1	UTSW	1	73,976,477 (GRCm39)	critical splice acceptor site	probably null
R0411:Tns1	UTSW	1	73,964,920 (GRCm39)	missense	probably damaging	0.96
R0543:Tns1	UTSW	1	73,991,856 (GRCm39)	missense	probably benign	0.01
R0552:Tns1	UTSW	1	73,959,722 (GRCm39)	missense	probably damaging	1.00
R0720:Tns1	UTSW	1	73,964,740 (GRCm39)	missense	probably benign	0.03
R0828:Tns1	UTSW	1	73,958,825 (GRCm39)	missense	probably damaging	1.00
R1034:Tns1	UTSW	1	73,981,128 (GRCm39)	missense	probably damaging	1.00
R1061:Tns1	UTSW	1	73,956,831 (GRCm39)	missense	probably damaging	1.00
R1819:Tns1	UTSW	1	73,955,635 (GRCm39)	splice site	probably benign
R1826:Tns1	UTSW	1	73,992,793 (GRCm39)	start codon destroyed	probably null	0.91
R2208:Tns1	UTSW	1	74,118,399 (GRCm39)	missense	probably damaging	1.00
R3723:Tns1	UTSW	1	73,964,099 (GRCm39)	missense	probably damaging	0.99
R4079:Tns1	UTSW	1	74,034,467 (GRCm39)	missense	probably damaging	1.00
R4111:Tns1	UTSW	1	73,981,091 (GRCm39)	missense	probably damaging	1.00
R4155:Tns1	UTSW	1	73,953,790 (GRCm39)	missense	probably damaging	1.00
R4156:Tns1	UTSW	1	73,953,790 (GRCm39)	missense	probably damaging	1.00
R4157:Tns1	UTSW	1	73,953,790 (GRCm39)	missense	probably damaging	1.00
R4274:Tns1	UTSW	1	73,967,257 (GRCm39)	missense	probably damaging	1.00
R4426:Tns1	UTSW	1	74,024,908 (GRCm39)	missense	probably damaging	0.97
R4649:Tns1	UTSW	1	73,992,930 (GRCm39)	missense	probably damaging	1.00
R4742:Tns1	UTSW	1	74,163,449 (GRCm39)	critical splice donor site	probably null
R4869:Tns1	UTSW	1	73,991,774 (GRCm39)	missense	probably benign
R4961:Tns1	UTSW	1	73,975,074 (GRCm39)	missense	probably benign	0.35
R5025:Tns1	UTSW	1	73,964,641 (GRCm39)	missense	probably damaging	1.00
R5035:Tns1	UTSW	1	73,992,979 (GRCm39)	start gained	probably benign
R5062:Tns1	UTSW	1	73,992,023 (GRCm39)	missense	probably damaging	1.00
R5080:Tns1	UTSW	1	73,992,099 (GRCm39)	missense	probably damaging	1.00
R5213:Tns1	UTSW	1	73,992,771 (GRCm39)	missense	probably damaging	1.00
R5256:Tns1	UTSW	1	74,034,585 (GRCm39)	intron	probably benign
R5368:Tns1	UTSW	1	73,980,176 (GRCm39)	missense	probably benign	0.07
R5391:Tns1	UTSW	1	74,029,568 (GRCm39)	splice site	probably null
R5587:Tns1	UTSW	1	73,959,755 (GRCm39)	missense	possibly damaging	0.94
R5735:Tns1	UTSW	1	73,967,138 (GRCm39)	missense	probably benign	0.00
R5855:Tns1	UTSW	1	73,957,192 (GRCm39)	missense	possibly damaging	0.83
R5999:Tns1	UTSW	1	73,967,256 (GRCm39)	nonsense	probably null
R6122:Tns1	UTSW	1	73,991,578 (GRCm39)	critical splice donor site	probably null
R6148:Tns1	UTSW	1	73,992,612 (GRCm39)	missense	probably damaging	1.00
R6457:Tns1	UTSW	1	73,957,209 (GRCm39)	missense	probably damaging	0.99
R6525:Tns1	UTSW	1	73,992,629 (GRCm39)	missense	probably damaging	1.00
R6712:Tns1	UTSW	1	74,118,460 (GRCm39)	nonsense	probably null
R6773:Tns1	UTSW	1	73,958,866 (GRCm39)	missense	probably damaging	1.00
R6825:Tns1	UTSW	1	74,041,482 (GRCm39)	nonsense	probably null
R7085:Tns1	UTSW	1	73,964,621 (GRCm39)	missense	probably benign	0.00
R7128:Tns1	UTSW	1	74,034,463 (GRCm39)	missense
R7209:Tns1	UTSW	1	73,993,074 (GRCm39)	missense	possibly damaging	0.68
R7348:Tns1	UTSW	1	73,956,076 (GRCm39)	missense	possibly damaging	0.95
R7570:Tns1	UTSW	1	73,992,638 (GRCm39)	missense	probably damaging	1.00
R7670:Tns1	UTSW	1	73,991,636 (GRCm39)	missense	possibly damaging	0.93
R7769:Tns1	UTSW	1	73,992,530 (GRCm39)	missense	probably damaging	0.99
R7833:Tns1	UTSW	1	74,130,490 (GRCm39)	intron	probably benign
R8052:Tns1	UTSW	1	73,992,596 (GRCm39)	missense	probably damaging	1.00
R8225:Tns1	UTSW	1	74,025,046 (GRCm39)	missense	probably damaging	1.00
R8244:Tns1	UTSW	1	73,976,410 (GRCm39)	missense	probably damaging	1.00
R8321:Tns1	UTSW	1	74,024,939 (GRCm39)	critical splice acceptor site	probably null
R8344:Tns1	UTSW	1	74,024,201 (GRCm39)	missense	probably damaging	1.00
R8378:Tns1	UTSW	1	73,976,405 (GRCm39)	missense	probably damaging	1.00
R8434:Tns1	UTSW	1	73,964,765 (GRCm39)	missense	probably benign	0.00
R8773:Tns1	UTSW	1	73,976,407 (GRCm39)	missense	probably damaging	0.99
R9211:Tns1	UTSW	1	73,956,948 (GRCm39)	missense	possibly damaging	0.63
R9251:Tns1	UTSW	1	74,030,855 (GRCm39)	missense	probably damaging	1.00
R9315:Tns1	UTSW	1	73,980,141 (GRCm39)	missense
R9411:Tns1	UTSW	1	73,992,662 (GRCm39)	missense	probably damaging	1.00
R9592:Tns1	UTSW	1	74,029,553 (GRCm39)	missense	probably damaging	1.00
R9658:Tns1	UTSW	1	73,981,183 (GRCm39)	missense	probably benign	0.08
R9658:Tns1	UTSW	1	73,981,182 (GRCm39)	missense	probably benign	0.14
Z1177:Tns1	UTSW	1	74,041,466 (GRCm39)	missense	probably benign	0.12

Posted On

2016-08-02