Incidental Mutation 'R8773:Tns1'
ID 664513
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission 068627-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # R8773 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73976407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1147 (D1147G)
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: D1147G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: D1147G

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
Predicted Effect
Predicted Effect possibly damaging
Transcript: ENSMUST00000187584
AA Change: D1103G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: D1103G

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: ENSMUST00000189228
Predicted Effect possibly damaging
Transcript: ENSMUST00000191104
AA Change: D1147G

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: D1147G

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 damaging
Transcript: ENSMUST00000212888
AA Change: D1147G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Meta Mutation Damage Score 0.0829 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (63/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A T 2: 151,314,062 (GRCm39) S539T possibly damaging Het
Abcc6 C T 7: 45,634,569 (GRCm39) R1136Q probably benign Het
Abhd12b A C 12: 70,213,708 (GRCm39) probably null Het
Agk T G 6: 40,334,050 (GRCm39) V98G possibly damaging Het
Apbb2 A G 5: 66,609,252 (GRCm39) S132P probably damaging Het
Apc2 T C 10: 80,142,046 (GRCm39) S322P probably damaging Het
Armc3 T C 2: 19,293,667 (GRCm39) V486A probably benign Het
Asxl2 A G 12: 3,507,200 (GRCm39) K131E probably damaging Het
Atp13a4 A G 16: 29,260,398 (GRCm39) V560A Het
Bnc1 C T 7: 81,623,719 (GRCm39) G503S probably damaging Het
Bsn C A 9: 107,987,704 (GRCm39) V2683F unknown Het
Btbd7 A T 12: 102,804,241 (GRCm39) N266K probably benign Het
Ccdc121rt2 T C 5: 112,597,681 (GRCm39) V76A probably benign Het
Cdca7l G A 12: 117,839,346 (GRCm39) D350N possibly damaging Het
Cfap251 A G 5: 123,411,913 (GRCm39) D515G probably benign Het
Ciao2a A T 9: 66,045,667 (GRCm39) N145I probably damaging Het
Col6a3 T A 1: 90,696,171 (GRCm39) D3239V unknown Het
Col9a1 T A 1: 24,224,208 (GRCm39) I130N unknown Het
Cr2 A G 1: 194,840,913 (GRCm39) W460R probably damaging Het
Cyb561d2 A G 9: 107,417,583 (GRCm39) F56S probably damaging Het
Dnaaf1 A G 8: 120,302,194 (GRCm39) I32V probably benign Het
Dnah11 T A 12: 117,958,950 (GRCm39) T2978S possibly damaging Het
Dsg2 T A 18: 20,716,056 (GRCm39) D302E probably damaging Het
Faf1 T A 4: 109,699,507 (GRCm39) F351I possibly damaging Het
Gimap8 C A 6: 48,633,545 (GRCm39) Q455K probably benign Het
Hps6 C G 19: 45,994,141 (GRCm39) R693G possibly damaging Het
Irx1 C T 13: 72,107,635 (GRCm39) G349D probably damaging Het
Itga8 C G 2: 12,187,495 (GRCm39) G728A probably damaging Het
Lcat T C 8: 106,666,710 (GRCm39) T271A possibly damaging Het
Mapkapk2 T C 1: 130,983,679 (GRCm39) H308R probably damaging Het
Mast1 A T 8: 85,642,953 (GRCm39) N947K probably damaging Het
Mpeg1 A T 19: 12,440,419 (GRCm39) I626F probably damaging Het
Mrtfa T C 15: 80,902,274 (GRCm39) S349G possibly damaging Het
Myh15 T C 16: 49,015,900 (GRCm39) S1859P possibly damaging Het
Nlrx1 A T 9: 44,167,712 (GRCm39) D728E probably benign Het
Or1j8 A G 2: 36,192,387 (GRCm39) T279A probably benign Het
Or8c19-ps1 G T 9: 38,220,516 (GRCm39) V142F probably benign Het
Pcdhb18 A T 18: 37,624,562 (GRCm39) S631C probably damaging Het
Pcdhga11 C A 18: 37,890,364 (GRCm39) Y457* probably null Het
Pcdhga5 T C 18: 37,829,823 (GRCm39) I757T probably benign Het
Pcgf5 G A 19: 36,389,348 (GRCm39) probably benign Het
Pdf A G 8: 107,775,100 (GRCm39) V44A possibly damaging Het
Pip4p1 T C 14: 51,166,503 (GRCm39) T194A possibly damaging Het
Prtg A T 9: 72,819,583 (GRCm39) *1192L probably null Het
Ptk7 A G 17: 46,877,193 (GRCm39) F955S possibly damaging Het
Rbp3 C A 14: 33,684,492 (GRCm39) Q1174K possibly damaging Het
Rufy1 T C 11: 50,321,796 (GRCm39) D46G possibly damaging Het
Sbf2 A G 7: 109,948,202 (GRCm39) V1216A probably benign Het
Serpina11 A G 12: 103,952,722 (GRCm39) V18A unknown Het
Serpinb6a T A 13: 34,115,543 (GRCm39) N47I probably damaging Het
Shc2 T C 10: 79,456,924 (GRCm39) H564R probably damaging Het
Sirt7 T A 11: 120,514,888 (GRCm39) R115* probably null Het
Slc22a14 A T 9: 119,059,290 (GRCm39) probably benign Het
Stra8 T A 6: 34,912,581 (GRCm39) S331T probably damaging Het
Tm9sf2 A G 14: 122,380,883 (GRCm39) T324A probably benign Het
Tmem268 T C 4: 63,498,530 (GRCm39) S224P probably benign Het
Tomm22 C T 15: 79,555,311 (GRCm39) probably benign Het
Top1 A G 2: 160,556,158 (GRCm39) Y539C probably damaging Het
Tpp2 T A 1: 44,009,552 (GRCm39) probably benign Het
Trav3-1 T C 14: 52,818,428 (GRCm39) V34A probably damaging Het
Tspyl5 T C 15: 33,687,238 (GRCm39) N236D possibly damaging Het
Ttc41 A G 10: 86,565,679 (GRCm39) D411G probably benign Het
Vmn1r128 A T 7: 21,083,922 (GRCm39) M209L probably benign Het
Xirp2 T A 2: 67,355,527 (GRCm39) D3429E probably benign Het
Zfp418 A T 7: 7,185,797 (GRCm39) T587S probably benign 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
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
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'- GGCTGGAAGAACACCCAATG -3'
(R):5'- TCAAGCTGAAATGTGTAGGCAG -3'

Sequencing Primer
(F):5'- ACCCAATGCCTGCAGAGG -3'
(R):5'- TCAGAGGAGGCAGTTCAGC -3'
Posted On 2021-03-08