Incidental Mutation 'R8321:Tns1'
ID 641932
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission 067723-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R8321 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 74024939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect probably null
Transcript: ENSMUST00000169786
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322

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 null
Transcript: ENSMUST00000169786
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322

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 benign
Transcript: ENSMUST00000185331
Predicted Effect probably benign
Transcript: ENSMUST00000185702
Predicted Effect probably benign
Transcript: ENSMUST00000187584
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322

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: ENSMUST00000191104
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap44 A G 11: 64,899,053 (GRCm39) V708A probably benign Het
Atg9a G A 1: 75,162,342 (GRCm39) Q523* probably null Het
Bank1 T A 3: 135,940,395 (GRCm39) E329V possibly damaging Het
Ccdc162 C A 10: 41,510,029 (GRCm39) A859S probably damaging Het
Cdh11 T C 8: 103,361,416 (GRCm39) R641G probably damaging Het
Cfap58 A G 19: 47,946,586 (GRCm39) E373G probably damaging Het
Chd8 T C 14: 52,470,024 (GRCm39) T529A probably benign Het
Chtf18 G A 17: 25,939,865 (GRCm39) T747I probably benign Het
Cyp2j6 A G 4: 96,441,684 (GRCm39) L2P probably benign Het
Cyp4f18 G A 8: 72,742,427 (GRCm39) P518S possibly damaging Het
Dmrtc1a G A X: 101,952,221 (GRCm39) R8W probably benign Het
Dpyd T C 3: 118,575,573 (GRCm39) V137A possibly damaging Het
Epha6 A G 16: 59,736,317 (GRCm39) V739A probably damaging Het
Ern2 C T 7: 121,772,431 (GRCm39) A676T probably damaging Het
Fam20c A T 5: 138,743,686 (GRCm39) I241F possibly damaging Het
Fastkd2 A G 1: 63,787,138 (GRCm39) H524R probably benign Het
Foxq1 T C 13: 31,743,251 (GRCm39) Y118H probably damaging Het
Gfm1 C T 3: 67,337,594 (GRCm39) A8V probably benign Het
Gfm2 C T 13: 97,299,500 (GRCm39) T407M possibly damaging Het
Gldc G A 19: 30,120,807 (GRCm39) Q375* probably null Het
Gm5114 A G 7: 39,060,273 (GRCm39) I192T possibly damaging Het
Gnb1 A T 4: 155,639,482 (GRCm39) N237I possibly damaging Het
Herc2 C T 7: 55,879,096 (GRCm39) P4662S possibly damaging Het
Herc3 C T 6: 58,820,754 (GRCm39) S46F possibly damaging Het
Hgsnat C T 8: 26,461,179 (GRCm39) G153E possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Igkv2-137 GA GAA 6: 67,533,154 (GRCm39) probably null Het
Invs T A 4: 48,283,267 (GRCm39) D6E probably benign Het
Jakmip3 T C 7: 138,628,613 (GRCm39) V463A probably benign Het
Jarid2 T A 13: 45,001,862 (GRCm39) S96R probably damaging Het
Krtap6-1 A C 16: 88,828,624 (GRCm39) N7H unknown Het
Matn4 A T 2: 164,235,207 (GRCm39) V455D probably damaging Het
Nbea G A 3: 56,090,518 (GRCm39) P47S possibly damaging Het
Oit3 T C 10: 59,263,982 (GRCm39) H384R probably benign Het
Or1e27-ps1 G A 11: 73,556,362 (GRCm39) R309H unknown Het
Or8b42 A T 9: 38,341,850 (GRCm39) I91F probably damaging Het
Pabpc4l T A 3: 46,400,729 (GRCm39) D305V probably damaging Het
Papln G A 12: 83,821,715 (GRCm39) W314* probably null Het
Pask G A 1: 93,248,377 (GRCm39) R975C possibly damaging Het
Pate13 G T 9: 35,820,749 (GRCm39) C111F probably damaging Het
Plce1 A G 19: 38,640,380 (GRCm39) N542S probably benign Het
Rasal1 C T 5: 120,804,420 (GRCm39) R431C probably benign Het
Rnf17 TG T 14: 56,661,999 (GRCm39) 132 probably null Het
Sez6l2 C A 7: 126,557,588 (GRCm39) T334N probably damaging Het
Sh3d19 A G 3: 86,001,071 (GRCm39) T256A probably damaging Het
Slit2 A T 5: 48,387,609 (GRCm39) N545Y probably damaging Het
Sprtn A T 8: 125,629,994 (GRCm39) D429V possibly damaging Het
Srcap T C 7: 127,140,068 (GRCm39) V1389A probably damaging Het
Tecta C A 9: 42,284,349 (GRCm39) C912F probably damaging Het
Tprg1l A G 4: 154,244,860 (GRCm39) V76A probably benign Het
Trav12-2 G T 14: 53,853,840 (GRCm39) probably benign Het
Trio T C 15: 27,881,412 (GRCm39) D612G possibly damaging Het
Usp6nl A T 2: 6,395,900 (GRCm39) Q36H possibly damaging Het
Vps9d1 A T 8: 123,975,544 (GRCm39) M167K possibly damaging Het
Zfhx4 T A 3: 5,466,187 (GRCm39) L2140Q probably damaging Het
Zfp512b A G 2: 181,228,931 (GRCm39) V678A possibly damaging Het
Zfp800 A G 6: 28,242,992 (GRCm39) S658P probably damaging Het
Zscan22 A G 7: 12,637,625 (GRCm39) S6G 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
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
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'- GCTTACAGGGGAATAGTCGC -3'
(R):5'- AACCCTACTCTGCAATGTCAGG -3'

Sequencing Primer
(F):5'- GGAATAGTCGCATGTCCCATGTC -3'
(R):5'- GACTCCTGGTCATGCCTG -3'
Posted On 2020-07-28