Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02597:Tns1'

299916

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 #

IGL02597

Quality Score

Status

Chromosome

Chromosomal Location

73949390-74163608 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 74025032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148638 (fasta)

Gene Model

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

AlphaFold

E9Q0S6

Predicted Effect

probably null
Transcript: ENSMUST00000169786

SMART Domains

Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322

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

probably null
Transcript: ENSMUST00000185331

Predicted Effect

probably null
Transcript: ENSMUST00000185702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186381

Predicted Effect

probably null
Transcript: ENSMUST00000187584

SMART Domains

Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322

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 null
Transcript: ENSMUST00000191104

SMART Domains

Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322

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 null
Transcript: ENSMUST00000212888

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	A	G	10: 85,469,665 (GRCm39)	Y862C	probably damaging	Het
Anapc1	T	C	2: 128,465,851 (GRCm39)	K1648E	probably benign	Het
Arhgef10	C	T	8: 14,980,198 (GRCm39)	A146V	probably benign	Het
Atp7a	A	T	X: 105,113,494 (GRCm39)	N34I	probably benign	Het
Casq2	A	G	3: 102,033,953 (GRCm39)	Y232C	probably damaging	Het
Cdan1	A	T	2: 120,555,720 (GRCm39)	N738K	probably benign	Het
Cdh24	A	G	14: 54,870,972 (GRCm39)	V132A	possibly damaging	Het
Chd5	C	A	4: 152,456,169 (GRCm39)	T946K	probably damaging	Het
Clip4	T	C	17: 72,156,965 (GRCm39)		probably benign	Het
Copz2	T	C	11: 96,748,425 (GRCm39)		probably benign	Het
Cyp2c39	C	A	19: 39,549,331 (GRCm39)	S283*	probably null	Het
Dlec1	A	T	9: 118,963,604 (GRCm39)	S973C	probably damaging	Het
Far1	A	T	7: 113,150,463 (GRCm39)	T264S	probably benign	Het
Iqgap1	A	G	7: 80,373,633 (GRCm39)	L1452P	probably damaging	Het
Irx5	A	C	8: 93,087,400 (GRCm39)	N444T	possibly damaging	Het
Kcnip2	A	G	19: 45,784,712 (GRCm39)		probably benign	Het
Kmt2d	A	T	15: 98,761,712 (GRCm39)	M546K	unknown	Het
Lrrc37a	A	G	11: 103,395,113 (GRCm39)	L104S	probably benign	Het
Med12	T	C	X: 100,328,538 (GRCm39)	L1143P	probably damaging	Het
Mtcl1	T	C	17: 66,645,016 (GRCm39)	H1477R	probably benign	Het
Nkap	T	A	X: 36,411,437 (GRCm39)		probably benign	Het
Ntmt2	A	G	1: 163,544,656 (GRCm39)	V109A	probably benign	Het
Or10a2	A	T	7: 106,673,646 (GRCm39)	T204S	possibly damaging	Het
Osbpl6	C	T	2: 76,386,318 (GRCm39)	Q214*	probably null	Het
Pex1	C	T	5: 3,685,865 (GRCm39)	T1202I	possibly damaging	Het
Prrc2b	A	T	2: 32,109,625 (GRCm39)	N1066I	probably damaging	Het
Psmg1	T	C	16: 95,788,497 (GRCm39)	E152G	probably damaging	Het
Scn10a	A	G	9: 119,439,189 (GRCm39)	I1560T	probably damaging	Het
Shd	A	G	17: 56,280,987 (GRCm39)	E221G	possibly damaging	Het
Slc39a4	T	C	15: 76,497,824 (GRCm39)	T478A	probably benign	Het
Snx2	A	G	18: 53,343,444 (GRCm39)	I281V	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tmem161a	A	T	8: 70,634,693 (GRCm39)	R297S	probably damaging	Het
Ugt2b36	G	A	5: 87,228,783 (GRCm39)	T420M	probably damaging	Het
Wdfy4	G	A	14: 32,812,818 (GRCm39)	R1652*	probably null	Het
Zap70	T	A	1: 36,811,001 (GRCm39)	Y178*	probably null	Het
Zdhhc3	A	G	9: 122,929,456 (GRCm39)	F60L	probably damaging	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
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

2015-04-16