Incidental Mutation 'R6525:Tns1'
ID 521655
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission 044651-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R6525 (G1)
Quality Score 158.009
Status Validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73992629 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 683 (S683N)
Ref Sequence ENSEMBL: ENSMUSP00000148638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000191367] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect probably damaging
Transcript: ENSMUST00000169786
AA Change: S683N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: S683N

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: S513N
Predicted Effect unknown
Transcript: ENSMUST00000185702
AA Change: S513N
Predicted Effect probably damaging
Transcript: ENSMUST00000187584
AA Change: S639N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: S639N

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 damaging
Transcript: ENSMUST00000191104
AA Change: S683N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: S683N

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: ENSMUST00000191367
AA Change: S56N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212888
AA Change: S683N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.1656 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.0%
Validation Efficiency 96% (71/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,931,308 (GRCm39) E1447G probably benign Het
Acss2 A G 2: 155,392,337 (GRCm39) N261S probably benign Het
Adcy8 C A 15: 64,609,243 (GRCm39) G859* probably null Het
Agbl3 A T 6: 34,780,529 (GRCm39) K496* probably null Het
Antxrl A T 14: 33,782,363 (GRCm39) D182V probably damaging Het
Arid5b A G 10: 67,933,496 (GRCm39) L559P possibly damaging Het
Azi2 T A 9: 117,876,663 (GRCm39) S60T probably damaging Het
Bahcc1 T C 11: 120,176,048 (GRCm39) Y1931H probably damaging Het
Cnga1 T A 5: 72,775,574 (GRCm39) E49V probably damaging Het
Col3a1 A G 1: 45,386,339 (GRCm39) N160D possibly damaging Het
Crem C A 18: 3,268,070 (GRCm39) R267L probably damaging Het
Ddx52 T C 11: 83,844,145 (GRCm39) probably null Het
Ddx6 T C 9: 44,534,926 (GRCm39) I127T probably damaging Het
Dop1b T A 16: 93,606,304 (GRCm39) Y2094N probably damaging Het
Dst C A 1: 34,202,216 (GRCm39) N181K probably damaging Het
Dusp7 A G 9: 106,246,483 (GRCm39) K163E possibly damaging Het
Dynlt1a T A 17: 6,362,014 (GRCm39) T55S probably benign Het
Enpp2 T C 15: 54,733,607 (GRCm39) N451S probably benign Het
Faap100 C A 11: 120,269,590 (GRCm39) probably null Het
Fam53a T C 5: 33,765,262 (GRCm39) N148S probably damaging Het
Fat2 T C 11: 55,174,626 (GRCm39) D2029G probably damaging Het
Flcn A T 11: 59,684,998 (GRCm39) N484K possibly damaging Het
Gbp10 T A 5: 105,383,950 (GRCm39) E17D probably benign Het
Gm14226 T C 2: 154,867,003 (GRCm39) V320A possibly damaging Het
Gna13 T C 11: 109,286,765 (GRCm39) I196T probably damaging Het
Gorasp1 G T 9: 119,757,061 (GRCm39) P374T possibly damaging Het
Hc T C 2: 34,881,236 (GRCm39) D1461G probably benign Het
Hmcn1 T C 1: 150,573,317 (GRCm39) N2111D probably damaging Het
Hs3st3b1 G A 11: 63,812,424 (GRCm39) S97L probably benign Het
Hsdl2 A G 4: 59,612,696 (GRCm39) T296A probably damaging Het
Impg2 A G 16: 56,025,512 (GRCm39) D48G probably damaging Het
Kbtbd12 A T 6: 88,591,062 (GRCm39) N383K probably benign Het
Kcnj12 T G 11: 60,960,397 (GRCm39) F232V probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Homo
Ldhb T C 6: 142,436,191 (GRCm39) D326G probably benign Het
Lrrc49 A G 9: 60,505,432 (GRCm39) L607S probably damaging Het
Ltn1 A G 16: 87,217,074 (GRCm39) S388P probably damaging Het
Mansc4 A G 6: 146,976,645 (GRCm39) S324P probably benign Het
Meltf G A 16: 31,707,717 (GRCm39) W368* probably null Het
Nacad A G 11: 6,552,255 (GRCm39) L312P probably damaging Het
Ndc1 G T 4: 107,225,304 (GRCm39) G7W probably benign Het
Nmral1 T A 16: 4,532,296 (GRCm39) K172* probably null Het
Nol9 G T 4: 152,123,906 (GRCm39) R32L probably damaging Het
Nsun5 A G 5: 135,403,912 (GRCm39) Y296C probably damaging Het
Or4k51 C T 2: 111,585,329 (GRCm39) T245I probably benign Het
Oscp1 A G 4: 125,970,571 (GRCm39) D120G possibly damaging Het
Parp14 C T 16: 35,680,811 (GRCm39) C274Y probably benign Het
Pced1b T A 15: 97,282,679 (GRCm39) H239Q possibly damaging Het
Pgap1 T C 1: 54,521,048 (GRCm39) I865V probably benign Het
Ppp6r3 T A 19: 3,543,936 (GRCm39) S360C probably damaging Het
Prb1a A G 6: 132,184,467 (GRCm39) S389P unknown Het
Prr16 T G 18: 51,436,227 (GRCm39) S235R probably benign Het
Rab11fip1 T C 8: 27,646,527 (GRCm39) N183S probably benign Het
Rcn1 A G 2: 105,219,320 (GRCm39) probably null Het
Rimkla C A 4: 119,325,288 (GRCm39) A374S probably benign Het
Skint8 A T 4: 111,785,935 (GRCm39) D127V probably damaging Het
Slc12a6 A G 2: 112,182,796 (GRCm39) K724E probably damaging Het
Slc13a3 T C 2: 165,248,667 (GRCm39) N537S unknown Het
Slc26a5 T C 5: 22,025,348 (GRCm39) D457G possibly damaging Het
Slx4ip T C 2: 136,842,138 (GRCm39) V21A possibly damaging Het
Stt3b A G 9: 115,087,626 (GRCm39) Y291H probably damaging Het
Syn3 G A 10: 86,302,916 (GRCm39) P80S probably damaging Het
Tasor2 G A 13: 3,626,540 (GRCm39) Q455* probably null Het
Tiam1 A T 16: 89,655,485 (GRCm39) probably null Het
Tjp1 T C 7: 64,993,399 (GRCm39) D58G probably damaging Het
Tmprss15 T A 16: 78,800,266 (GRCm39) I621F probably damaging Het
Ttn A G 2: 76,773,436 (GRCm39) L2322P probably damaging Het
Ugdh G T 5: 65,574,402 (GRCm39) H409N probably damaging Het
Vmn2r81 T A 10: 79,129,560 (GRCm39) M817K probably benign Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Zbtb34 A G 2: 33,302,145 (GRCm39) V132A probably damaging Het
Zfp119b A G 17: 56,246,992 (GRCm39) C33R possibly 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
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
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'- GACTGCTGTGGACAGGAATCAC -3'
(R):5'- GACCGCCTACTAAGTGGCTTTG -3'

Sequencing Primer
(F):5'- TGGACAGGAATCACCCGGTTG -3'
(R):5'- GAAAAGCAAGGCGCCATGTACC -3'
Posted On 2018-06-06