Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01683:Tns1'

103858

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: 0.565) question?

Stock #

IGL01683

Quality Score

Status

Chromosome

Chromosomal Location

73949390-74163608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 73992428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 750 (R750Q)

Ref Sequence

ENSEMBL: ENSMUSP00000148638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000191367] [ENSMUST00000212888]

AlphaFold

E9Q0S6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169786
AA Change: R750Q

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: R750Q

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: R580Q

Predicted Effect

unknown
Transcript: ENSMUST00000185702
AA Change: R580Q

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187584
AA Change: R706Q

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: R706Q

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

possibly damaging
Transcript: ENSMUST00000191104
AA Change: R750Q

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: R750Q

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 benign
Transcript: ENSMUST00000191367

Predicted Effect

probably damaging
Transcript: ENSMUST00000212888
AA Change: R750Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,214,288 (GRCm39)	L188Q	probably damaging	Het
Abcc8	T	A	7: 45,801,091 (GRCm39)	I446F	possibly damaging	Het
Ankrd34c	T	C	9: 89,611,850 (GRCm39)	T164A	probably benign	Het
Bsn	C	A	9: 107,992,095 (GRCm39)	R1219L	possibly damaging	Het
Cdk2ap1	C	T	5: 124,488,242 (GRCm39)		probably benign	Het
Ces2f	T	C	8: 105,679,733 (GRCm39)	F409L	probably benign	Het
Clcc1	G	A	3: 108,584,112 (GRCm39)	A499T	probably benign	Het
Foxm1	T	G	6: 128,350,451 (GRCm39)	I584S	probably benign	Het
Ftcd	T	C	10: 76,415,963 (GRCm39)	I199T	probably damaging	Het
Gjb6	C	A	14: 57,361,815 (GRCm39)	A149S	probably benign	Het
H2-M2	A	T	17: 37,792,406 (GRCm39)	H288Q	possibly damaging	Het
Itprid2	T	C	2: 79,501,069 (GRCm39)		probably benign	Het
Os9	A	G	10: 126,935,972 (GRCm39)	Y258H	probably damaging	Het
Phldb3	T	C	7: 24,318,862 (GRCm39)	F337S	possibly damaging	Het
Pla2g4a	T	G	1: 149,733,405 (GRCm39)	Y448S	probably benign	Het
Sgk3	T	A	1: 9,952,091 (GRCm39)	V239D	probably damaging	Het
Tek	T	C	4: 94,747,148 (GRCm39)	Y903H	probably damaging	Het
Tenm4	C	A	7: 96,534,611 (GRCm39)	H1752Q	possibly damaging	Het
Tubb2a	A	T	13: 34,260,530 (GRCm39)		probably null	Het
Zfp106	T	C	2: 120,355,036 (GRCm39)	N1245S	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
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
IGL03370:Tns1	APN	1	74,025,053 (GRCm39)	missense	probably damaging	1.00
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

2014-01-21