Incidental Mutation 'R7769:Tns1'
ID 598434
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission 045825-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R7769 (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 A at 73992530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 716 (D716V)
Ref Sequence ENSEMBL: ENSMUSP00000127715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000191367] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect probably damaging
Transcript: ENSMUST00000169786
AA Change: D716V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: D716V

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
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000187584
AA Change: D672V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: D672V

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: D716V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: D716V

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 probably damaging
Transcript: ENSMUST00000212888
AA Change: D716V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 ACCAGCCC ACC 14: 118,852,682 (GRCm39) probably null Het
Abhd14b T C 9: 106,328,819 (GRCm39) Y147H probably damaging Het
Adam26b C A 8: 43,974,732 (GRCm39) R90L probably benign Het
Agt A T 8: 125,291,289 (GRCm39) M6K probably benign Het
Akr1c14 T C 13: 4,109,644 (GRCm39) S5P probably benign Het
Arhgef38 A C 3: 132,855,383 (GRCm39) S235A unknown Het
Cabp5 A G 7: 13,134,658 (GRCm39) D31G probably benign Het
Cacna1h T A 17: 25,604,779 (GRCm39) D1178V probably damaging Het
Ccdc88a A T 11: 29,432,381 (GRCm39) E1199D probably damaging Het
Cd244a A T 1: 171,404,873 (GRCm39) I242F probably benign Het
Clpb G T 7: 101,371,924 (GRCm39) R220L probably damaging Het
Cltc C T 11: 86,610,319 (GRCm39) R638H probably damaging Het
Cnr1 A T 4: 33,944,892 (GRCm39) M427L probably benign Het
Ctnnbl1 C T 2: 157,579,390 (GRCm39) probably benign Het
Epb41l2 A T 10: 25,369,471 (GRCm39) T597S probably benign Het
Epb41l3 T C 17: 69,545,421 (GRCm39) Y163H probably damaging Het
Fgg A G 3: 82,920,433 (GRCm39) probably null Het
Gm37240 A T 3: 84,417,232 (GRCm39) D162E possibly damaging Het
Gm44511 T A 6: 128,797,240 (GRCm39) T83S probably benign Het
Gm6685 T A 11: 28,289,252 (GRCm39) Y188F probably benign Het
Gprin2 A T 14: 33,917,570 (GRCm39) C67S probably benign Het
Grk6 A G 13: 55,598,820 (GRCm39) D140G probably benign Het
Hps3 T C 3: 20,072,972 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,335 (GRCm39) V159A possibly damaging Het
Ibsp A G 5: 104,453,871 (GRCm39) N70D probably benign Het
Ibsp A G 5: 104,458,050 (GRCm39) N196D probably damaging Het
Igfn1 A T 1: 135,910,143 (GRCm39) F147Y possibly damaging Het
Iqca1 T G 1: 90,005,532 (GRCm39) D492A possibly damaging Het
Klhl42 T C 6: 146,993,358 (GRCm39) L110P possibly damaging Het
Krt12 C T 11: 99,308,852 (GRCm39) R395Q probably damaging Het
Lig4 A T 8: 10,023,629 (GRCm39) H50Q possibly damaging Het
Mttp A C 3: 137,808,873 (GRCm39) L730R probably damaging Het
Muc16 T A 9: 18,571,803 (GRCm39) I239L unknown Het
Myo15a T C 11: 60,399,975 (GRCm39) F1723L Het
Niban2 A G 2: 32,809,844 (GRCm39) T314A possibly damaging Het
Nin T C 12: 70,090,004 (GRCm39) D1137G Het
Nsf C T 11: 103,819,665 (GRCm39) V35M probably damaging Het
Numa1 T A 7: 101,648,207 (GRCm39) I646K possibly damaging Het
Nwd2 A G 5: 63,961,847 (GRCm39) N477S probably damaging Het
Or1p1 T A 11: 74,179,589 (GRCm39) V39E probably damaging Het
P4ha3 A G 7: 99,934,924 (GRCm39) D62G probably damaging Het
Palb2 G T 7: 121,727,638 (GRCm39) D77E probably benign Het
Pcmtd2 T C 2: 181,493,494 (GRCm39) V233A probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pgr C T 9: 8,946,856 (GRCm39) T699I possibly damaging Het
Pknox2 C A 9: 36,806,602 (GRCm39) probably null Het
Ppp2r3d T C 9: 124,439,087 (GRCm38) H110R Het
Psmd11 T A 11: 80,325,408 (GRCm39) probably benign Het
Pyroxd2 T C 19: 42,736,001 (GRCm39) N59S probably benign Het
Qser1 A T 2: 104,588,921 (GRCm39) D1662E possibly damaging Het
Rasip1 A G 7: 45,278,239 (GRCm39) Y180C probably damaging Het
Rbl1 T C 2: 157,033,900 (GRCm39) S393G probably benign Het
Rtn4r C T 16: 17,969,153 (GRCm39) P194S probably benign Het
Ryr1 C T 7: 28,798,210 (GRCm39) G944D probably damaging Het
Scamp3 A G 3: 89,085,298 (GRCm39) D23G probably damaging Het
Secisbp2l CTGGG C 2: 125,613,465 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,789,232 (GRCm39) I529T probably damaging Het
Slc5a10 T A 11: 61,564,473 (GRCm39) D502V probably damaging Het
Smad5 T C 13: 56,880,855 (GRCm39) I323T possibly damaging Het
Spred1 T C 2: 117,007,930 (GRCm39) S279P probably benign Het
Stag1 T A 9: 100,826,880 (GRCm39) V949D possibly damaging Het
Stxbp3 A G 3: 108,708,144 (GRCm39) S386P probably benign Het
Syt14 A G 1: 192,666,632 (GRCm39) S91P unknown Het
Thpo C T 16: 20,544,401 (GRCm39) A211T probably benign Het
Trbv26 A G 6: 41,204,481 (GRCm39) Y8C probably benign Het
Tshr A G 12: 91,505,044 (GRCm39) I661V probably damaging Het
Uvrag G A 7: 98,628,928 (GRCm39) P380S probably damaging Het
Vkorc1 G T 7: 127,493,696 (GRCm39) Y88* probably null Het
Vmn1r63 C T 7: 5,806,369 (GRCm39) V88M probably damaging Het
Wdsub1 A G 2: 59,708,763 (GRCm39) Y37H probably damaging Het
Zap70 A G 1: 36,809,983 (GRCm39) D31G probably benign Het
Zc3h12d G A 10: 7,743,390 (GRCm39) A387T probably benign Het
Zfp438 C T 18: 5,213,377 (GRCm39) R527H 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
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
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'- GGATCTGAATAGACCACTGGGG -3'
(R):5'- AGGTTCACGTCAATGGTGGG -3'

Sequencing Primer
(F):5'- AGTGGGCACTGGTCACTTGC -3'
(R):5'- TCAATGGTGGGGCCCTG -3'
Posted On 2019-11-26