Incidental Mutation 'R4426:Tns1'
ID 328141
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission 041697-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # R4426 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74024908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 403 (I403T)
Ref Sequence ENSEMBL: ENSMUSP00000140317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect possibly damaging
Transcript: ENSMUST00000169786
AA Change: I403T

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: I403T

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 unknown
Transcript: ENSMUST00000185331
AA Change: I233T
Predicted Effect unknown
Transcript: ENSMUST00000185702
AA Change: I233T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186381
Predicted Effect probably damaging
Transcript: ENSMUST00000187584
AA Change: I359T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: I359T

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 noncoding transcript
Transcript: ENSMUST00000188942
Predicted Effect probably damaging
Transcript: ENSMUST00000191104
AA Change: I403T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: I403T

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 possibly damaging
Transcript: ENSMUST00000212888
AA Change: I403T

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191264
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Albfm1 G T 5: 90,720,642 (GRCm39) C271F probably damaging Het
Arhgef39 C T 4: 43,497,112 (GRCm39) G293E possibly damaging Het
Atp8a1 A C 5: 67,932,171 (GRCm39) I206S probably benign Het
Cacnb2 A T 2: 14,980,026 (GRCm39) R290* probably null Het
Ccdc137 T C 11: 120,351,074 (GRCm39) S159P probably damaging Het
Chil5 A G 3: 105,926,943 (GRCm39) S231P probably damaging Het
Cic C T 7: 24,993,433 (GRCm39) probably benign Het
Csmd3 A G 15: 47,532,581 (GRCm39) V2434A possibly damaging Het
Csnk1a1 A G 18: 61,718,381 (GRCm39) probably benign Het
Eif4e1b T C 13: 54,932,296 (GRCm39) S49P probably benign Het
Far1 C A 7: 113,149,208 (GRCm39) P194Q probably benign Het
Fut4 T C 9: 14,662,677 (GRCm39) T206A possibly damaging Het
Galnt7 G T 8: 58,005,606 (GRCm39) S209* probably null Het
Gas2l1 A G 11: 5,013,908 (GRCm39) V184A probably benign Het
Herc1 T C 9: 66,403,287 (GRCm39) L4402P probably damaging Het
Hoxa13 C A 6: 52,237,714 (GRCm39) probably benign Het
Ighv1-9 T A 12: 114,547,416 (GRCm39) K42* probably null Het
Kif20a C T 18: 34,764,994 (GRCm39) R743W probably damaging Het
Lama2 G A 10: 27,298,554 (GRCm39) R181C probably damaging Het
Lrp2 G T 2: 69,336,692 (GRCm39) T1360K probably benign Het
Map4k1 G A 7: 28,688,020 (GRCm39) V177I probably damaging Het
Nbea G A 3: 55,989,800 (GRCm39) T352I probably damaging Het
Nde1 A G 16: 14,006,200 (GRCm39) T82A possibly damaging Het
Nes A G 3: 87,883,349 (GRCm39) E536G probably damaging Het
Nms C T 1: 38,978,377 (GRCm39) P4L probably benign Het
Nrip1 T C 16: 76,088,293 (GRCm39) Q1088R possibly damaging Het
Nwd1 A G 8: 73,393,423 (GRCm39) K229E probably damaging Het
Or51f1d T C 7: 102,701,018 (GRCm39) L171P probably damaging Het
Or52ad1 A G 7: 102,995,290 (GRCm39) Y282H probably damaging Het
Pcdhac2 T A 18: 37,277,796 (GRCm39) S259T probably benign Het
Pdcd5 T C 7: 35,345,605 (GRCm39) D102G possibly damaging Het
Pgm1 T C 4: 99,819,337 (GRCm39) V169A probably benign Het
Pitpnm2 C T 5: 124,280,186 (GRCm39) E121K probably benign Het
Plin3 T C 17: 56,593,555 (GRCm39) Y53C probably damaging Het
Poc1b T C 10: 98,991,001 (GRCm39) probably null Het
Polr2c A T 8: 95,590,090 (GRCm39) N232Y probably damaging Het
Ppp1r9b A T 11: 94,892,150 (GRCm39) R188S possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rab3gap2 G A 1: 184,967,539 (GRCm39) S141N probably damaging Het
Radx T C X: 138,381,645 (GRCm39) V134A possibly damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Rnf166 A G 8: 123,196,979 (GRCm39) L91P probably damaging Het
Robo2 T A 16: 73,745,154 (GRCm39) M200L probably damaging Het
Rp1 A T 1: 4,418,147 (GRCm39) H988Q probably benign Het
Sbno2 T C 10: 79,908,192 (GRCm39) K69R probably null Het
Sgce G A 6: 4,691,459 (GRCm39) A295V probably damaging Het
Shc3 C G 13: 51,634,130 (GRCm39) probably null Het
Slc44a1 T C 4: 53,563,286 (GRCm39) V671A probably benign Het
Sptbn4 A C 7: 27,123,223 (GRCm39) L233R probably damaging Het
Stx5a A G 19: 8,727,104 (GRCm39) T252A probably benign Het
Timd6 T A 11: 46,475,247 (GRCm39) F147L probably benign Het
Tmem87b C T 2: 128,688,670 (GRCm39) A485V probably benign Het
Ttll10 G C 4: 156,133,018 (GRCm39) T22R possibly damaging Het
Uevld A T 7: 46,589,890 (GRCm39) S293T probably benign Het
Utp18 T C 11: 93,757,264 (GRCm39) N467D probably damaging Het
Vmn1r39 A T 6: 66,782,345 (GRCm39) probably null Het
Vmn2r106 A G 17: 20,505,641 (GRCm39) S18P probably benign Het
Vmn2r61 A T 7: 41,950,157 (GRCm39) H859L probably benign Het
Vmn2r61 T C 7: 41,950,159 (GRCm39) S860P probably benign Het
Vmn2r72 G A 7: 85,387,036 (GRCm39) R843* probably null Het
Vwc2 A G 11: 11,104,235 (GRCm39) T256A probably damaging Het
Zfp715 T C 7: 42,960,516 (GRCm39) D25G probably damaging 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
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'- GTTCCCTGAAGATGTCCCAGAG -3'
(R):5'- TCCGCATCTACCAAGCCATG -3'

Sequencing Primer
(F):5'- TTCTCTCCAAGGGAAGAAGTTGGATC -3'
(R):5'- ATGCAACCTGTGTACACATCTGG -3'
Posted On 2015-07-07