Incidental Mutation 'R1819:Tns1'
ID 204665
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission 039847-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R1819 (G1)
Quality Score 202
Status Validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 73955635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000187691] [ENSMUST00000191104] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect probably benign
Transcript: ENSMUST00000169786
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000185331
Predicted Effect probably benign
Transcript: ENSMUST00000185702
Predicted Effect probably benign
Transcript: ENSMUST00000187584
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000187691
SMART Domains Protein: ENSMUSP00000139844
Gene: ENSMUSG00000055322

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
low complexity region 254 266 N/A INTRINSIC
SH2 350 452 4.3e-19 SMART
PTB 483 624 9e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000191104
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322

DomainStartEndE-ValueType
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: ENSMUST00000212888
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 100% (91/91)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T C 11: 109,871,882 (GRCm39) probably null Het
Abhd17a T C 10: 80,422,470 (GRCm39) T71A probably benign Het
Acad11 G A 9: 103,991,738 (GRCm39) probably null Het
Adgrf1 C A 17: 43,620,924 (GRCm39) T387K probably benign Het
Afdn A G 17: 14,071,110 (GRCm39) T783A probably damaging Het
Akap13 T A 7: 75,258,453 (GRCm39) M359K probably benign Het
Asxl3 A T 18: 22,655,433 (GRCm39) N1148Y probably damaging Het
Atl1 T C 12: 70,010,074 (GRCm39) S547P probably benign Het
Bace1 A T 9: 45,768,460 (GRCm39) T252S possibly damaging Het
BC034090 A G 1: 155,101,575 (GRCm39) S230P possibly damaging Het
Bnc2 A G 4: 84,210,111 (GRCm39) F778L possibly damaging Het
Capn2 T A 1: 182,300,162 (GRCm39) K609N probably benign Het
Capn8 T A 1: 182,426,391 (GRCm39) I242N probably damaging Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccdc180 A G 4: 45,926,195 (GRCm39) E1135G possibly damaging Het
Ccdc181 C T 1: 164,110,047 (GRCm39) Q385* probably null Het
Cdh10 G T 15: 18,992,051 (GRCm39) G437* probably null Het
Ceacam1 T A 7: 25,163,285 (GRCm39) Q316L possibly damaging Het
Cecr2 A G 6: 120,708,228 (GRCm39) T77A probably damaging Het
Cers4 T A 8: 4,571,232 (GRCm39) M267K probably benign Het
Csmd3 T C 15: 47,617,131 (GRCm39) D1930G possibly damaging Het
Cyp2j11 A T 4: 96,185,976 (GRCm39) V403D probably damaging Het
Cyp4v3 G A 8: 45,768,673 (GRCm39) R296C possibly damaging Het
Ddx59 A G 1: 136,360,245 (GRCm39) I420V probably damaging Het
Dnah5 T A 15: 28,246,546 (GRCm39) L628* probably null Het
Dnah7a A C 1: 53,598,307 (GRCm39) D1409E probably benign Het
Dus2 T A 8: 106,778,480 (GRCm39) W377R probably damaging Het
E330034G19Rik A G 14: 24,348,081 (GRCm39) D111G probably damaging Het
Erich4 C T 7: 25,314,715 (GRCm39) R66Q possibly damaging Het
Fcgbp G T 7: 27,784,708 (GRCm39) R256L probably benign Het
Fdxr A T 11: 115,166,930 (GRCm39) F53Y probably damaging Het
Fkbp10 G T 11: 100,306,715 (GRCm39) A36S probably benign Het
Foxo3 A T 10: 42,073,607 (GRCm39) D84E probably benign Het
Gin1 A G 1: 97,712,951 (GRCm39) probably null Het
Gli3 C T 13: 15,900,377 (GRCm39) Q1255* probably null Het
Gm4847 T A 1: 166,465,788 (GRCm39) H267L probably damaging Het
Gpr171 T C 3: 59,005,341 (GRCm39) I145V probably benign Het
Gpr68 T A 12: 100,844,662 (GRCm39) H294L possibly damaging Het
Gys2 T C 6: 142,406,912 (GRCm39) E148G probably damaging Het
Heatr5b T C 17: 79,098,940 (GRCm39) D1320G probably damaging Het
Ifnlr1 G T 4: 135,413,834 (GRCm39) probably benign Het
Ift88 G A 14: 57,692,976 (GRCm39) E392K probably damaging Het
Igsf9b T A 9: 27,222,889 (GRCm39) S97T probably damaging Het
Il18rap A G 1: 40,570,687 (GRCm39) I210V probably benign Het
Kcnj11 C T 7: 45,748,580 (GRCm39) G248S probably benign Het
Kif28 T C 1: 179,533,319 (GRCm39) K541E possibly damaging Het
Lilrb4a A G 10: 51,372,124 (GRCm39) Y205C probably damaging Het
Lima1 T A 15: 99,717,817 (GRCm39) H63L probably benign Het
Lonrf3 A G X: 35,622,361 (GRCm39) I687V probably damaging Het
Lrba A G 3: 86,449,941 (GRCm39) T2099A possibly damaging Het
Morn5 C T 2: 35,942,987 (GRCm39) T29M probably damaging Het
Neurl1b G A 17: 26,657,674 (GRCm39) R22H probably benign Het
Nr2e3 T C 9: 59,850,720 (GRCm39) I380V probably damaging Het
Oas1c G A 5: 120,946,800 (GRCm39) A10V possibly damaging Het
Or1e35 T C 11: 73,797,505 (GRCm39) E271G probably benign Het
Or52e8 C T 7: 104,624,605 (GRCm39) V196I probably benign Het
P3h3 T C 6: 124,831,895 (GRCm39) T297A probably benign Het
Pdpk1 T C 17: 24,329,878 (GRCm39) K53E probably damaging Het
Plec C T 15: 76,064,106 (GRCm39) R2056Q probably damaging Het
Plxna2 T A 1: 194,472,494 (GRCm39) N1079K probably benign Het
Prr12 G C 7: 44,698,121 (GRCm39) probably benign Het
Psip1 A G 4: 83,376,400 (GRCm39) S480P probably benign Het
Ptpre A G 7: 135,270,722 (GRCm39) probably benign Het
Pvalb A C 15: 78,086,784 (GRCm39) V44G probably damaging Het
Rab3c T G 13: 110,220,669 (GRCm39) Q164P possibly damaging Het
Rubcn T C 16: 32,647,284 (GRCm39) K703R possibly damaging Het
Setd7 T G 3: 51,450,060 (GRCm39) H122P probably benign Het
Slc26a8 A T 17: 28,903,808 (GRCm39) F19I probably benign Het
Slc6a14 A G X: 21,607,286 (GRCm39) D625G probably benign Het
Snx6 C T 12: 54,830,259 (GRCm39) V67I possibly damaging Het
Syngr3 A G 17: 24,906,696 (GRCm39) F40L possibly damaging Het
Syt8 G A 7: 141,991,971 (GRCm39) G21R possibly damaging Het
Tagln A G 9: 45,842,138 (GRCm39) F152L probably benign Het
Tcf12 G A 9: 72,016,999 (GRCm39) T36M probably damaging Het
Tdrd6 C T 17: 43,937,442 (GRCm39) S1202N probably benign Het
Tekt2 T C 4: 126,217,529 (GRCm39) K179E probably damaging Het
Tekt4 G T 17: 25,692,785 (GRCm39) probably null Het
Tmprss5 G T 9: 49,018,464 (GRCm39) R98L probably benign Het
Tpcn1 A C 5: 120,674,292 (GRCm39) probably null Het
Ttc6 T C 12: 57,741,286 (GRCm39) probably null Het
Ttf1 A G 2: 28,964,796 (GRCm39) N706S possibly damaging Het
Washc4 C T 10: 83,386,748 (GRCm39) T124I probably benign Het
Wdr17 A T 8: 55,143,159 (GRCm39) S140T probably benign Het
Wdr19 A T 5: 65,370,234 (GRCm39) I123F possibly damaging Het
Zer1 C T 2: 30,000,230 (GRCm39) A317T probably benign Het
Zfp474 A G 18: 52,771,872 (GRCm39) D175G probably damaging Het
Zfp598 T C 17: 24,900,104 (GRCm39) probably benign Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zranb3 A T 1: 127,945,293 (GRCm39) probably null Het
Other mutations in Tns1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- ACACGTCTTTGTTAGCATGAAGATG -3'
(R):5'- TGGTGACTTCCCACAGACTTC -3'

Sequencing Primer
(F):5'- TATTAGACCCCTGGCCTA -3'
(R):5'- GTGACTTCCCACAGACTTCATTGC -3'
Posted On 2014-06-23