Incidental Mutation 'R7209:Tns1'
ID 560910
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission 045338-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R7209 (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 73993074 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 535 (S535G)
Ref Sequence ENSEMBL: ENSMUSP00000127715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000191367] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect possibly damaging
Transcript: ENSMUST00000169786
AA Change: S535G

PolyPhen 2 Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: S535G

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 probably damaging
Transcript: ENSMUST00000185331
AA Change: S365G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000185702
AA Change: S365G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect possibly damaging
Transcript: ENSMUST00000187584
AA Change: S491G

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: S491G

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 possibly damaging
Transcript: ENSMUST00000191104
AA Change: S535G

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: S535G

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: ENSMUST00000191367
Predicted Effect possibly damaging
Transcript: ENSMUST00000212888
AA Change: S535G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (67/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,767,268 (GRCm39) Y61H probably damaging Het
Adgrb1 T G 15: 74,441,797 (GRCm39) V966G possibly damaging Het
Adh5 G A 3: 138,148,909 (GRCm39) probably benign Het
Akr1b8 T C 6: 34,333,207 (GRCm39) V28A probably damaging Het
Apbb1 T A 7: 105,215,292 (GRCm39) I450F probably damaging Het
Arhgap23 C T 11: 97,366,911 (GRCm39) T1064I probably damaging Het
Arhgap23 G C 11: 97,383,273 (GRCm39) probably null Het
Atg4b A G 1: 93,702,955 (GRCm39) I128M probably damaging Het
Baat A T 4: 49,503,065 (GRCm39) I19N probably damaging Het
Bspry T G 4: 62,404,852 (GRCm39) I216S possibly damaging Het
Commd9 T A 2: 101,725,483 (GRCm39) S19T possibly damaging Het
Cr2 A G 1: 194,851,032 (GRCm39) C145R probably damaging Het
Cyp2c68 A G 19: 39,677,649 (GRCm39) L447P probably damaging Het
Depdc1b T C 13: 108,519,389 (GRCm39) M333T possibly damaging Het
Dhx9 T C 1: 153,340,369 (GRCm39) T710A possibly damaging Het
Dnah5 T C 15: 28,459,371 (GRCm39) V4530A possibly damaging Het
Dohh T A 10: 81,221,874 (GRCm39) H89Q probably damaging Het
Dop1b T A 16: 93,566,733 (GRCm39) N1171K probably benign Het
Dscam T C 16: 96,451,544 (GRCm39) probably null Het
Entpd5 T A 12: 84,443,702 (GRCm39) S14C probably benign Het
Eqtn G A 4: 94,813,806 (GRCm39) S125F probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fgf18 A T 11: 33,084,315 (GRCm39) D46E probably benign Het
Foxa1 T A 12: 57,590,077 (GRCm39) M48L probably benign Het
Gabrg1 C A 5: 70,911,513 (GRCm39) C417F probably damaging Het
Glrp1 T A 1: 88,431,004 (GRCm39) Q122L unknown Het
Gm5622 A G 14: 51,893,363 (GRCm39) I97V possibly damaging Het
Gusb A G 5: 130,027,387 (GRCm39) V306A probably benign Het
Hars1 A G 18: 36,906,593 (GRCm39) S126P probably benign Het
Herc1 A G 9: 66,292,314 (GRCm39) S356G possibly damaging Het
Hydin C A 8: 111,216,424 (GRCm39) Y1336* probably null Het
Iftap T C 2: 101,396,727 (GRCm39) *217W probably null Het
Kin T C 2: 10,096,564 (GRCm39) Y138H possibly damaging Het
Lypd2 C T 15: 74,604,266 (GRCm39) V101M probably benign Het
Madcam1 A T 10: 79,500,892 (GRCm39) T70S possibly damaging Het
Man1a2 A G 3: 100,554,395 (GRCm39) C112R unknown Het
Mia2 T A 12: 59,201,176 (GRCm39) V198E possibly damaging Het
Mpdz C T 4: 81,225,114 (GRCm39) V1438M possibly damaging Het
Mtif2 G A 11: 29,479,996 (GRCm39) V21M probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nln G A 13: 104,209,406 (GRCm39) Q56* probably null Het
Nlrp4b T C 7: 10,444,297 (GRCm39) V82A probably benign Het
Obscn C A 11: 58,975,933 (GRCm39) E2065* probably null Het
Or10g1 A G 14: 52,647,550 (GRCm39) C260R possibly damaging Het
Pilrb2 C T 5: 137,869,126 (GRCm39) probably null Het
Plekhh1 C A 12: 79,097,150 (GRCm39) D99E probably benign Het
Polr2b T A 5: 77,491,026 (GRCm39) F956I probably damaging Het
Ppp3cc A G 14: 70,504,947 (GRCm39) F20L probably benign Het
Prmt9 T C 8: 78,291,627 (GRCm39) V333A probably benign Het
Psd4 T C 2: 24,287,357 (GRCm39) S430P probably damaging Het
Relch C A 1: 105,678,082 (GRCm39) P1136T probably damaging Het
Rrp12 A C 19: 41,861,388 (GRCm39) V973G possibly damaging Het
Rxfp2 A G 5: 149,976,563 (GRCm39) probably null Het
S100a6 G A 3: 90,521,095 (GRCm39) A8T possibly damaging Het
Sgsm2 C A 11: 74,745,151 (GRCm39) G717V probably damaging Het
Sipa1 A G 19: 5,705,003 (GRCm39) Y531H probably damaging Het
Slc45a1 A C 4: 150,719,669 (GRCm39) probably null Het
Spopfm3 A T 3: 94,106,012 (GRCm39) Q110L probably benign Het
Srbd1 C A 17: 86,308,948 (GRCm39) L743F probably damaging Het
Taar2 A T 10: 23,816,597 (GRCm39) I46F possibly damaging Het
Tmem241 A T 18: 12,237,229 (GRCm39) V69D probably damaging Het
Trgc3 A G 13: 19,445,334 (GRCm39) N94S probably benign Het
Ttc34 C A 4: 154,923,585 (GRCm39) P98Q probably damaging Het
Ubr1 C A 2: 120,693,246 (GRCm39) R1720L probably benign Het
Ubr3 T A 2: 69,846,478 (GRCm39) D1597E probably benign Het
Unc79 T C 12: 103,091,883 (GRCm39) M1930T probably benign Het
Vmn2r100 A T 17: 19,751,576 (GRCm39) I603F not run Het
Vps26b A T 9: 26,921,288 (GRCm39) S304T probably benign Het
Zfp952 A T 17: 33,222,444 (GRCm39) T308S 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
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
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'- ACTGGCTCATCGGTCTTGTC -3'
(R):5'- CTTGAGGCTGAATGCACGTG -3'

Sequencing Primer
(F):5'- GCTCATCGGTCTTGTCTGTCTTAG -3'
(R):5'- CTGAATGCACGTGAAGAGTTCCC -3'
Posted On 2019-06-26