Incidental Mutation 'R7085:Tns1'
ID 549799
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission 045179-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # R7085 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 73964621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 81 (P81S)
Ref Sequence ENSEMBL: ENSMUSP00000139844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000187691] [ENSMUST00000191104] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect probably benign
Transcript: ENSMUST00000169786
AA Change: P1345S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: P1345S

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 possibly damaging
Transcript: ENSMUST00000185331
AA Change: P1162S

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000185702
AA Change: P1175S

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000187584
AA Change: P1280S

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: P1280S

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
AA Change: P81S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000139844
Gene: ENSMUSG00000055322
AA Change: P81S

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 damaging
Transcript: ENSMUST00000189228
AA Change: P38S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000191104
AA Change: P1324S

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: P1324S

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
AA Change: P1337S

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (75/79)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T C 10: 29,100,476 (GRCm39) L283P probably damaging Het
Abhd18 T C 3: 40,871,344 (GRCm39) M132T possibly damaging Het
Afap1l1 A G 18: 61,881,885 (GRCm39) V270A possibly damaging Het
Ankrd34a A T 3: 96,505,945 (GRCm39) Q383L probably benign Het
Atp8b5 A G 4: 43,361,835 (GRCm39) D627G probably damaging Het
Atrnl1 T A 19: 57,680,289 (GRCm39) C730S probably damaging Het
Bclaf1 T C 10: 20,197,768 (GRCm39) S4P unknown Het
Blzf1 T C 1: 164,129,893 (GRCm39) D153G probably damaging Het
Btaf1 T C 19: 36,950,318 (GRCm39) V516A probably benign Het
C1qa T C 4: 136,625,091 (GRCm39) T20A probably benign Het
Cacna1e A T 1: 154,349,492 (GRCm39) probably null Het
Cfd T G 10: 79,728,326 (GRCm39) V229G probably damaging Het
Chd3 T A 11: 69,260,027 (GRCm39) H64L unknown Het
Cntn3 A G 6: 102,142,362 (GRCm39) S1002P possibly damaging Het
Cntrl T A 2: 35,055,804 (GRCm39) C1786S probably benign Het
Cpa1 A G 6: 30,643,619 (GRCm39) D355G probably benign Het
D130043K22Rik T C 13: 25,056,285 (GRCm39) V539A possibly damaging Het
Ddx1 A C 12: 13,279,356 (GRCm39) W428G probably damaging Het
Ddx49 G A 8: 70,755,133 (GRCm39) probably benign Het
Dnhd1 T A 7: 105,364,468 (GRCm39) V4207E probably benign Het
Dock3 A G 9: 106,779,086 (GRCm39) S288P probably damaging Het
Drap1 G A 19: 5,474,815 (GRCm39) probably benign Het
Ecm2 G A 13: 49,674,378 (GRCm39) R266K probably damaging Het
Emilin2 A G 17: 71,581,100 (GRCm39) L542S probably damaging Het
Evx1 T C 6: 52,293,677 (GRCm39) Y282H possibly damaging Het
Fbxo44 T A 4: 148,243,200 (GRCm39) H20L probably damaging Het
Flot2 G T 11: 77,948,900 (GRCm39) A292S possibly damaging Het
Fry A G 5: 150,362,214 (GRCm39) I2161V probably benign Het
Gli3 T C 13: 15,889,647 (GRCm39) F587S probably damaging Het
Gm49368 A G 7: 127,726,029 (GRCm39) D1147G unknown Het
Gprc5b A T 7: 118,582,855 (GRCm39) M338K probably damaging Het
H1f11-ps A G 19: 47,159,101 (GRCm39) V158A unknown Het
Hacd3 A C 9: 64,905,525 (GRCm39) N204K probably damaging Het
Hsd3b9 T C 3: 98,357,710 (GRCm39) N101D probably damaging Het
Hydin A G 8: 111,329,962 (GRCm39) T4899A probably benign Het
Ido2 T A 8: 25,048,212 (GRCm39) R49S probably benign Het
Igsf3 C A 3: 101,362,805 (GRCm39) T942K probably benign Het
Kank4 T A 4: 98,668,183 (GRCm39) Q88L probably benign Het
Krtap16-1 T A 11: 99,877,111 (GRCm39) I98F possibly damaging Het
Laptm4a T C 12: 8,972,113 (GRCm39) V52A probably benign Het
Lmbr1 A T 5: 29,566,090 (GRCm39) probably null Het
Lnx1 G A 5: 74,788,846 (GRCm39) S31F possibly damaging Het
Mafa G T 15: 75,619,536 (GRCm39) A79E unknown Het
Me2 A T 18: 73,914,129 (GRCm39) N467K probably damaging Het
Med23 T A 10: 24,746,019 (GRCm39) L8Q probably damaging Het
Muc16 T A 9: 18,556,145 (GRCm39) I3383F unknown Het
Nbas G T 12: 13,335,259 (GRCm39) S151I probably damaging Het
Or10ag60 T A 2: 87,437,750 (GRCm39) I6N probably benign Het
Or10d5j C A 9: 39,867,808 (GRCm39) C141F probably damaging Het
Or13c25 C T 4: 52,910,961 (GRCm39) A278T probably benign Het
Or6k6 T A 1: 173,945,226 (GRCm39) I119F probably damaging Het
Or7d11 G A 9: 19,966,232 (GRCm39) H58Y probably benign Het
Piezo1 A G 8: 123,217,633 (GRCm39) V1305A Het
Plcb3 T C 19: 6,937,501 (GRCm39) E639G possibly damaging Het
Polr2a A G 11: 69,634,706 (GRCm39) L658P probably damaging Het
Prag1 A T 8: 36,571,391 (GRCm39) Q658L possibly damaging Het
Prex2 A T 1: 11,168,812 (GRCm39) R269S possibly damaging Het
Reln C A 5: 22,120,085 (GRCm39) G2856* probably null Het
Rsph10b A T 5: 143,886,102 (GRCm39) T267S possibly damaging Het
Rtn4rl1 A G 11: 75,156,050 (GRCm39) I161V probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sbno1 G A 5: 124,519,783 (GRCm39) P1165L possibly damaging Het
Scn3b T C 9: 40,188,394 (GRCm39) V29A probably damaging Het
Sh3d21 T A 4: 126,056,884 (GRCm39) T13S probably benign Het
Shisal2b G T 13: 104,994,814 (GRCm39) T111K probably benign Het
Slc22a22 G A 15: 57,113,045 (GRCm39) T398I probably benign Het
Slc40a1 T A 1: 45,950,688 (GRCm39) T255S probably benign Het
Smchd1 A T 17: 71,672,214 (GRCm39) probably null Het
Soat1 A T 1: 156,259,901 (GRCm39) V480D probably damaging Het
Spata31e2 A G 1: 26,722,546 (GRCm39) L878P possibly damaging Het
Supt5 T A 7: 28,030,914 (GRCm39) E39V unknown Het
Tapbpl T C 6: 125,203,451 (GRCm39) probably null Het
Tdpoz7 T A 3: 93,979,939 (GRCm39) M5L probably benign Het
Tlr11 A T 14: 50,600,113 (GRCm39) I700F probably damaging Het
Tmc3 A T 7: 83,271,353 (GRCm39) K864M possibly damaging Het
Tspan2 C A 3: 102,668,270 (GRCm39) L168I probably benign Het
Unc13d C A 11: 115,955,633 (GRCm39) S885I probably benign Het
Unc45a A T 7: 79,976,082 (GRCm39) M799K possibly damaging Het
Usp34 A G 11: 23,313,097 (GRCm39) D547G Het
Vps33b A G 7: 79,925,837 (GRCm39) I95V 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
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'- ACTTGATGGCTTCCCACTG -3'
(R):5'- CATCAGTGGTGAGCAGTGAC -3'

Sequencing Primer
(F):5'- ATGGCTTCCCACTGGGTGC -3'
(R):5'- AGCCCTGCAGCACTGAGTTATC -3'
Posted On 2019-05-15