Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Tns1'

585678

Institutional Source

Beutler Lab

Gene Symbol

Tns1

Ensembl Gene

ENSMUSG00000055322

Gene Name

tensin 1

Synonyms

E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns

MMRRC Submission

045631-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.528) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73949390-74163608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73992638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 53 (D53G)

Ref Sequence

ENSEMBL: ENSMUSP00000140991 (fasta)

Gene Model

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

AlphaFold

E9Q0S6

Predicted Effect

probably damaging
Transcript: ENSMUST00000169786
AA Change: D680G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: D680G

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 damaging
Transcript: ENSMUST00000187584
AA Change: D636G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: D636G

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

probably damaging
Transcript: ENSMUST00000191104
AA Change: D680G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: D680G

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: ENSMUST00000191367
AA Change: D53G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212888
AA Change: D680G

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

Meta Mutation Damage Score

0.0710

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,911,591 (GRCm39)	T613I	probably benign	Het
Ajuba	T	C	14: 54,813,859 (GRCm39)	E288G	probably damaging	Het
Ankrd12	C	T	17: 66,292,355 (GRCm39)	R1026K	probably benign	Het
Apol7b	T	C	15: 77,307,674 (GRCm39)	T274A	probably benign	Het
Arid4a	A	T	12: 71,109,916 (GRCm39)	R86*	probably null	Het
Asnsd1	C	T	1: 53,387,417 (GRCm39)	G70D	probably damaging	Het
Atg4c	T	A	4: 99,116,797 (GRCm39)	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,085,715 (GRCm39)	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,104,183 (GRCm39)	I209F	possibly damaging	Het
Bsn	T	C	9: 107,990,742 (GRCm39)	D1670G	probably damaging	Het
Cct8	T	A	16: 87,288,210 (GRCm39)	I121F	probably benign	Het
Cd209a	T	G	8: 3,794,151 (GRCm39)	D217A	probably damaging	Het
Cdk19	C	T	10: 40,353,954 (GRCm39)	S456L	possibly damaging	Het
Chd9	C	T	8: 91,721,208 (GRCm39)	H999Y	unknown	Het
Col5a1	G	A	2: 27,841,395 (GRCm39)	V339M	unknown	Het
Cr2	G	A	1: 194,851,648 (GRCm39)	R115*	probably null	Het
Cyb561	A	T	11: 105,828,470 (GRCm39)	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,393,187 (GRCm39)	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,848,342 (GRCm39)	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,244,932 (GRCm39)	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,303,356 (GRCm39)	S296P	probably benign	Het
Dmxl1	T	A	18: 50,027,024 (GRCm39)	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,347,098 (GRCm39)	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,126,413 (GRCm39)	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,438,712 (GRCm39)	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,518,619 (GRCm39)	Y594C	probably damaging	Het
Dph7	A	G	2: 24,855,642 (GRCm39)	D147G	probably damaging	Het
Drap1	T	C	19: 5,473,380 (GRCm39)	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,660,837 (GRCm39)	V392E	possibly damaging	Het
Dxo	A	G	17: 35,056,616 (GRCm39)	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,828,645 (GRCm39)	T11K	probably benign	Het
Esyt1	A	G	10: 128,354,801 (GRCm39)	V533A	possibly damaging	Het
Etv3	T	A	3: 87,443,338 (GRCm39)	C307*	probably null	Het
Fam114a1	T	A	5: 65,187,402 (GRCm39)		probably null	Het
Fam3c	T	A	6: 22,326,404 (GRCm39)		probably benign	Het
Fbn1	G	T	2: 125,239,772 (GRCm39)	T305K	probably benign	Het
Ggt1	A	T	10: 75,421,428 (GRCm39)	I484F	probably damaging	Het
Gpatch1	T	C	7: 34,993,237 (GRCm39)	D536G	probably damaging	Het
Gpx4	T	C	10: 79,890,875 (GRCm39)	I189T	probably damaging	Het
Gsr	T	A	8: 34,159,193 (GRCm39)	C85S	probably damaging	Het
Gsta5	A	T	9: 78,211,751 (GRCm39)	D171V	possibly damaging	Het
Havcr1	T	A	11: 46,661,369 (GRCm39)		probably null	Het
Heatr4	T	C	12: 84,026,418 (GRCm39)	T280A	probably benign	Het
Hmcn2	A	T	2: 31,313,923 (GRCm39)	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,312,556 (GRCm39)	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,432,358 (GRCm39)	V13A	probably benign	Het
Itgb2l	A	T	16: 96,227,439 (GRCm39)	F535I	probably benign	Het
Kdm5a	T	G	6: 120,404,803 (GRCm39)	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,503,691 (GRCm39)		probably null	Het
Ky	A	G	9: 102,419,528 (GRCm39)	I512V	probably benign	Het
Lamc1	A	T	1: 153,119,021 (GRCm39)	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,223,687 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,028,658 (GRCm39)	T521A	possibly damaging	Het
Mgam	A	T	6: 40,723,367 (GRCm39)	I491L	probably benign	Het
Mitd1	T	C	1: 37,929,273 (GRCm39)	E40G	probably damaging	Het
Mpzl3	A	G	9: 44,981,985 (GRCm39)	T218A	probably benign	Het
Mrpl42	A	G	10: 95,316,827 (GRCm39)	S77P	probably benign	Het
Mup5	C	T	4: 61,752,911 (GRCm39)	W37*	probably null	Het
Myh14	T	C	7: 44,281,850 (GRCm39)	I803V	probably benign	Het
Ncor2	T	A	5: 125,107,153 (GRCm39)	T744S		Het
Ndufv3	A	G	17: 31,746,596 (GRCm39)	D162G	probably damaging	Het
Nostrin	A	G	2: 69,006,150 (GRCm39)	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,469,807 (GRCm39)	E1288A	probably benign	Het
Or4c11c	A	G	2: 88,661,472 (GRCm39)	N4D	possibly damaging	Het
Or51b6b	C	A	7: 103,310,088 (GRCm39)	R123L	probably damaging	Het
Or52h1	T	A	7: 103,828,955 (GRCm39)	Y220F	probably damaging	Het
Or8g55	A	T	9: 39,784,751 (GRCm39)	Y60F	possibly damaging	Het
Patj	T	A	4: 98,312,737 (GRCm39)		probably null	Het
Pcm1	T	G	8: 41,720,381 (GRCm39)	I314R	possibly damaging	Het
Pcsk6	A	G	7: 65,683,646 (GRCm39)	T754A	probably benign	Het
Pde2a	A	T	7: 101,152,041 (GRCm39)	N326I	probably benign	Het
Plekhg4	T	C	8: 106,105,316 (GRCm39)	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,977,065 (GRCm39)	D135G	probably damaging	Het
Plin4	A	T	17: 56,413,776 (GRCm39)	M283K	probably benign	Het
Ppfia3	T	C	7: 44,990,172 (GRCm39)		probably null	Het
Prdm9	T	C	17: 15,775,914 (GRCm39)	N179S	probably benign	Het
Prrt3	T	C	6: 113,471,449 (GRCm39)	S908G	probably damaging	Het
Psg22	C	A	7: 18,456,660 (GRCm39)	S181Y	possibly damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,269,023 (GRCm39)	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529 (GRCm39)	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,046,396 (GRCm39)	M172L	probably benign	Het
Rtbdn	T	C	8: 85,679,556 (GRCm39)	L110P	probably damaging	Het
Ryr1	T	A	7: 28,778,010 (GRCm39)	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,211,299 (GRCm39)	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,358,965 (GRCm39)		probably null	Het
Serpina1a	A	T	12: 103,820,096 (GRCm39)	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 81,934,285 (GRCm39)	M262T	probably benign	Het
Sos2	G	A	12: 69,637,654 (GRCm39)	T1052M	probably damaging	Het
Spag16	G	A	1: 70,036,000 (GRCm39)	V343I	probably benign	Het
Spocd1	T	G	4: 129,823,957 (GRCm39)	D251E		Het
Stc2	G	T	11: 31,317,798 (GRCm39)	N74K	probably damaging	Het
Tasor2	A	G	13: 3,623,621 (GRCm39)	Y2110H	probably damaging	Het
Thbs3	C	T	3: 89,126,359 (GRCm39)	Q227*	probably null	Het
Tmem92	A	C	11: 94,669,816 (GRCm39)	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632 (GRCm39)	N20K	probably benign	Het
Tspan33	T	A	6: 29,717,337 (GRCm39)	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,658,980 (GRCm39)	L392P	probably damaging	Het
Uggt1	T	A	1: 36,224,919 (GRCm39)	T572S	probably benign	Het
Usp17la	A	T	7: 104,509,604 (GRCm39)	T70S	probably damaging	Het
Usp31	C	T	7: 121,274,186 (GRCm39)	R370H	probably damaging	Het
Wdr83	C	T	8: 85,806,463 (GRCm39)	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,416,366 (GRCm39)		probably benign	Het
Zfp110	T	A	7: 12,583,267 (GRCm39)	N638K	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,455 (GRCm39)	S216C	probably benign	Het
Zfp820	T	C	17: 22,037,994 (GRCm39)	T445A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACTGCTGTGGACAGGAATC -3'
(R):5'- GACCGCCTACTAAGTGGCTTTG -3'

Sequencing Primer
(F):5'- TGGACAGGAATCACCCGGTTG -3'
(R):5'- CTTTGGTGTGGATAGAGAAAAGC -3'

Posted On

2019-10-17