Incidental Mutation 'R6148:Tns1'
ID 488987
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission 044295-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R6148 (G1)
Quality Score 89.0077
Status Validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73992612 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 689 (T689A)
Ref Sequence ENSEMBL: ENSMUSP00000140317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000191367] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect probably damaging
Transcript: ENSMUST00000169786
AA Change: T689A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: T689A

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: T519A
Predicted Effect unknown
Transcript: ENSMUST00000185702
AA Change: T519A
Predicted Effect probably damaging
Transcript: ENSMUST00000187584
AA Change: T645A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: T645A

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: T689A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: T689A

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: T62A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000212888
AA Change: T689A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.0974 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 95% (61/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,234,200 (GRCm39) C1067S possibly damaging Het
AAdacl4fm3 T C 4: 144,447,887 (GRCm39) T30A possibly damaging Het
Agbl3 T A 6: 34,834,688 (GRCm39) S952R possibly damaging Het
Ano9 A G 7: 140,686,698 (GRCm39) Y429H probably damaging Het
Bbs7 C A 3: 36,667,415 (GRCm39) R7L probably damaging Het
Birc2 T A 9: 7,849,684 (GRCm39) D535V possibly damaging Het
Catsper4 A G 4: 133,945,240 (GRCm39) V206A probably damaging Het
Ccdc73 T G 2: 104,822,482 (GRCm39) S810R possibly damaging Het
Cd177 A T 7: 24,443,698 (GRCm39) L800* probably null Het
Cd34 T C 1: 194,630,316 (GRCm39) probably null Het
Cep78 G A 19: 15,959,150 (GRCm39) R95* probably null Het
Cfap69 T C 5: 5,713,996 (GRCm39) D12G probably benign Het
Cpne7 A G 8: 123,854,171 (GRCm39) D286G probably benign Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Cxcl5 A T 5: 90,907,565 (GRCm39) I46L probably benign Het
Cyp19a1 C T 9: 54,087,540 (GRCm39) G59D probably damaging Het
Dclre1c A G 2: 3,438,742 (GRCm39) D35G probably damaging Het
Defa41 A G 8: 21,692,428 (GRCm39) N83S probably benign Het
Dvl1 A G 4: 155,939,409 (GRCm39) Y279C probably damaging Het
Fes A G 7: 80,030,044 (GRCm39) L578P probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fmn2 T C 1: 174,494,229 (GRCm39) S1248P probably damaging Het
Fmo1 T G 1: 162,679,088 (GRCm39) S53R probably damaging Het
Gabrg1 A T 5: 70,931,804 (GRCm39) M313K probably damaging Het
Galnt10 T C 11: 57,675,474 (GRCm39) C578R probably damaging Het
Gpr39 T C 1: 125,800,323 (GRCm39) V358A probably damaging Het
Gsap A G 5: 21,431,323 (GRCm39) R216G probably damaging Het
Gsap A T 5: 21,475,575 (GRCm39) T570S probably benign Het
Gucy2d A T 7: 98,093,030 (GRCm39) I136L probably benign Het
Hap1 A T 11: 100,240,218 (GRCm39) V294E probably damaging Het
Ipo8 A G 6: 148,701,278 (GRCm39) V514A probably damaging Het
Irf5 T C 6: 29,535,958 (GRCm39) L324P probably damaging Het
Itsn1 C T 16: 91,613,740 (GRCm39) R251C probably damaging Het
Klf11 T C 12: 24,701,567 (GRCm39) probably null Het
Kpna6 G A 4: 129,543,099 (GRCm39) Q439* probably null Het
Mark4 A T 7: 19,163,441 (GRCm39) S563T probably benign Het
Mrpl21 A T 19: 3,333,084 (GRCm39) I5L probably benign Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Myrf G A 19: 10,189,839 (GRCm39) T815I probably damaging Het
Olfr515-ps1 A T 7: 108,444,178 (GRCm39) probably null Het
Or10d4c G T 9: 39,558,555 (GRCm39) D178Y probably damaging Het
Or11g27 A G 14: 50,771,778 (GRCm39) N303S probably benign Het
Or4c15 C T 2: 88,760,597 (GRCm39) V21I probably benign Het
Or52n3 A G 7: 104,530,289 (GRCm39) Y125C possibly damaging Het
Os9 T C 10: 126,935,812 (GRCm39) D280G probably benign Het
Pcdhb14 A G 18: 37,582,283 (GRCm39) N463S probably damaging Het
Pex19 G A 1: 171,961,606 (GRCm39) E271K probably damaging Het
Ppdpf G A 2: 180,829,641 (GRCm39) S32N probably benign Het
Prdm2 A G 4: 142,859,477 (GRCm39) I1271T probably benign Het
Rbbp4 T C 4: 129,215,751 (GRCm39) T262A probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Sult1e1 A T 5: 87,727,770 (GRCm39) S171T probably damaging Het
Unc13c G C 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r52 T C 7: 9,905,090 (GRCm39) I250V probably benign Het
Vmn2r55 C A 7: 12,402,069 (GRCm39) L406F probably benign Het
Wdcp T C 12: 4,900,621 (GRCm39) V159A possibly damaging Het
Zbtb3 C T 19: 8,781,560 (GRCm39) A391V probably benign Het
Znhit1 A T 5: 137,011,487 (GRCm39) S109T 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
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'- TGACTGCTGTGGACAGGAATC -3'
(R):5'- ACCGCCTACTAAGTGGCTTTG -3'

Sequencing Primer
(F):5'- TGGACAGGAATCACCCGGTTG -3'
(R):5'- ATGTACCGGGCTCAGCAACTC -3'
Posted On 2017-10-10