Incidental Mutation 'R9658:Tns1'
ID 735513
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R9658 (G1)
Quality Score 215.009
Status Not validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 73981182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Glutamic Acid at position 1061 (Q1061E)
Ref Sequence ENSEMBL: ENSMUSP00000127715 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect probably benign
Transcript: ENSMUST00000169786
AA Change: Q1061E

PolyPhen 2 Score 0.145 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: Q1061E

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 benign
Transcript: ENSMUST00000187584
AA Change: Q1017E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: Q1017E

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: ENSMUST00000189228
Predicted Effect probably benign
Transcript: ENSMUST00000191104
AA Change: Q1061E

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: Q1061E

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
AA Change: Q1061E

PolyPhen 2 Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,600,401 (GRCm39) probably null Het
Abca12 T C 1: 71,325,634 (GRCm39) I1521M probably damaging Het
Abcc3 A G 11: 94,263,703 (GRCm39) S268P possibly damaging Het
Adamts20 G C 15: 94,249,626 (GRCm39) P464A probably damaging Het
Apoa1 C A 9: 46,141,280 (GRCm39) D125E probably benign Het
Atp6v0a1 C A 11: 100,909,414 (GRCm39) Q48K probably benign Het
Bptf T C 11: 107,002,170 (GRCm39) N314S probably damaging Het
Cdh20 T C 1: 109,988,785 (GRCm39) V229A probably damaging Het
Cfap46 G A 7: 139,246,229 (GRCm39) T378M Het
Clca3b T A 3: 144,543,575 (GRCm39) D418V probably damaging Het
Dennd4c T A 4: 86,754,625 (GRCm39) L1545* probably null Het
Dnajc13 A G 9: 104,115,728 (GRCm39) V27A probably benign Het
Efcab3 A G 11: 104,611,120 (GRCm39) K321E probably benign Het
Eif2ak2 A T 17: 79,183,632 (GRCm39) D72E probably benign Het
Eif2ak4 T C 2: 118,269,511 (GRCm39) I862T probably damaging Het
Eif4g1 T C 16: 20,502,863 (GRCm39) I1022T probably benign Het
Enpp3 A T 10: 24,649,802 (GRCm39) *875R probably null Het
F11 T C 8: 45,698,671 (GRCm39) Y491C probably damaging Het
Fam98c A C 7: 28,852,206 (GRCm39) W118G probably damaging Het
Fbxo43 A T 15: 36,152,282 (GRCm39) L509Q probably damaging Het
Fbxw5 A G 2: 25,393,870 (GRCm39) H366R probably damaging Het
Flt1 G T 5: 147,525,377 (GRCm39) N920K probably damaging Het
Git1 T A 11: 77,390,581 (GRCm39) F106I probably damaging Het
Glipr1l2 A G 10: 111,942,868 (GRCm39) E241G probably damaging Het
Gm2381 A C 7: 42,469,729 (GRCm39) C132G probably damaging Het
Gm49383 A G 12: 69,239,628 (GRCm39) I237T Het
Gm7324 T A 14: 43,952,282 (GRCm39) D308E probably benign Het
Gpr17 A G 18: 32,080,421 (GRCm39) L214P probably damaging Het
Gtf3c1 A T 7: 125,306,734 (GRCm39) L39Q probably damaging Het
H2-Q6 C T 17: 35,644,185 (GRCm39) R56C probably damaging Het
Hcar2 T C 5: 124,002,532 (GRCm39) T324A possibly damaging Het
Ksr2 T C 5: 117,885,425 (GRCm39) S750P probably damaging Het
Lipi C A 16: 75,357,689 (GRCm39) R292L probably benign Het
Map4k3 C A 17: 80,961,306 (GRCm39) M133I probably benign Het
Marf1 A T 16: 13,958,087 (GRCm39) L805Q probably damaging Het
Mccc2 T A 13: 100,090,754 (GRCm39) R460W probably damaging Het
Mgam A G 6: 40,721,311 (GRCm39) D312G possibly damaging Het
Nadk2 A T 15: 9,103,449 (GRCm39) K360* probably null Het
Nalf1 T C 8: 9,820,114 (GRCm39) D302G probably benign Het
Nars2 A G 7: 96,689,178 (GRCm39) I367V probably benign Het
Nppb T C 4: 148,070,951 (GRCm39) S109P possibly damaging Het
Odf2 G A 2: 29,779,813 (GRCm39) R15Q probably benign Het
Or4f59 C A 2: 111,872,823 (GRCm39) A185S probably damaging Het
Or51l4 C T 7: 103,404,028 (GRCm39) V255M probably damaging Het
Or5ac25 A T 16: 59,182,106 (GRCm39) H158Q probably damaging Het
Osbpl1a A T 18: 12,889,269 (GRCm39) I949N probably benign Het
Pan3 T C 5: 147,479,881 (GRCm39) F55L probably benign Het
Patj A G 4: 98,353,377 (GRCm39) D640G probably null Het
Pdxk T C 10: 78,287,403 (GRCm39) K53E probably benign Het
Pja2 A G 17: 64,599,868 (GRCm39) S539P probably damaging Het
Plscr1 T A 9: 92,148,535 (GRCm39) C158* probably null Het
Prdm14 T C 1: 13,189,145 (GRCm39) T400A probably benign Het
Rag1 C T 2: 101,473,229 (GRCm39) V638M possibly damaging Het
Ros1 A G 10: 51,967,069 (GRCm39) S1734P probably damaging Het
S100a9 T C 3: 90,600,081 (GRCm39) H105R unknown Het
Shisa9 A T 16: 12,062,520 (GRCm39) Q247L possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc27a4 G A 2: 29,701,301 (GRCm39) R364Q probably damaging Het
Spag17 C T 3: 99,934,932 (GRCm39) P713S possibly damaging Het
Tbc1d4 T A 14: 101,845,856 (GRCm39) H14L probably damaging Het
Tmem144 T A 3: 79,729,991 (GRCm39) Y253F probably damaging Het
Tmem204 C T 17: 25,299,322 (GRCm39) G66R possibly damaging Het
Tnfrsf1b A T 4: 144,942,424 (GRCm39) V453E probably damaging Het
Trav5-1 A G 14: 52,860,428 (GRCm39) K78E probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Usp17lc G A 7: 103,067,389 (GRCm39) G228D possibly damaging Het
Uvssa T C 5: 33,568,333 (GRCm39) C574R probably damaging Het
Veph1 G A 3: 66,171,434 (GRCm39) Q3* probably null Het
Vps13b T A 15: 35,623,774 (GRCm39) D1230E probably benign Het
Xkr9 T A 1: 13,771,318 (GRCm39) I278N probably damaging Het
Zbed4 C A 15: 88,664,742 (GRCm39) A270E probably benign Het
Zfp366 A T 13: 99,365,435 (GRCm39) T199S 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
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
Z1177:Tns1 UTSW 1 74,041,466 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- AGATGCCCAATGGACTCTGC -3'
(R):5'- GTTTGAGCTAAGTTGGGAACAG -3'

Sequencing Primer
(F):5'- AATGGACTCTGCTCCCTGCTG -3'
(R):5'- ATGTGGCCCACTCCAGTTCAG -3'
Posted On 2022-11-14