Incidental Mutation 'R9211:Tns1'
ID 698826
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 # R9211 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73956948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 491 (L491P)
Ref Sequence ENSEMBL: ENSMUSP00000139844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000187691] [ENSMUST00000191104] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect probably damaging
Transcript: ENSMUST00000169786
AA Change: L1755P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: L1755P

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: L1690P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: L1690P

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: ENSMUST00000187691
AA Change: L491P

PolyPhen 2 Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139844
Gene: ENSMUSG00000055322
AA Change: L491P

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
low complexity region 195 206 N/A INTRINSIC
low complexity region 254 266 N/A INTRINSIC
SH2 350 452 4.3e-19 SMART
PTB 483 624 9e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191104
AA Change: L1734P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: L1734P

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: ENSMUST00000212888
AA Change: L1747P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (86/87)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G T 1: 120,099,161 (GRCm39) D85Y possibly damaging Het
Accs T C 2: 93,668,614 (GRCm39) R315G probably damaging Het
Adam3 A C 8: 25,177,910 (GRCm39) W668G probably benign Het
Adgrb2 T A 4: 129,886,199 (GRCm39) V113E probably benign Het
Anapc4 C T 5: 53,007,994 (GRCm39) T391I possibly damaging Het
Angpt2 C T 8: 18,748,078 (GRCm39) G394D probably benign Het
Ankrd31 C G 13: 97,029,551 (GRCm39) L1662V possibly damaging Het
Ankrd36 A G 11: 5,612,370 (GRCm39) D1234G possibly damaging Het
Ankrd6 C T 4: 32,806,580 (GRCm39) V558M probably damaging Het
Ankrd61 T A 5: 143,828,358 (GRCm39) M206L probably benign Het
Arhgap33 C T 7: 30,223,023 (GRCm39) G970R possibly damaging Het
Atf7 A G 15: 102,437,117 (GRCm39) V115A unknown Het
Atp2c2 A T 8: 120,446,032 (GRCm39) R65S probably benign Het
Atp8b5 T A 4: 43,367,960 (GRCm39) M861K probably damaging Het
Bmi1 T C 2: 18,689,152 (GRCm39) S279P probably benign Het
Bptf T G 11: 106,946,124 (GRCm39) S2372R probably damaging Het
Cacnb2 A T 2: 14,879,308 (GRCm39) I15L unknown Het
Card11 A G 5: 140,869,375 (GRCm39) M807T probably benign Het
Ccdc175 A T 12: 72,153,458 (GRCm39) D704E probably damaging Het
Cd300ld T A 11: 114,878,386 (GRCm39) Y42F probably damaging Het
Cdh1 A T 8: 107,390,962 (GRCm39) T693S probably benign Het
Clca4b T C 3: 144,638,214 (GRCm39) Y16C possibly damaging Het
Col4a4 A G 1: 82,506,501 (GRCm39) I273T unknown Het
Coro2b C A 9: 62,427,662 (GRCm39) V9L probably benign Het
Crnkl1 T C 2: 145,774,773 (GRCm39) D55G probably damaging Het
Dcps T A 9: 35,035,872 (GRCm39) N338I probably damaging Het
Dusp2 A T 2: 127,179,311 (GRCm39) H222L probably benign Het
Dync1li1 C A 9: 114,518,012 (GRCm39) Y21* probably null Het
Efhb T G 17: 53,756,507 (GRCm39) Q381H probably damaging Het
Elac2 A T 11: 64,869,864 (GRCm39) probably benign Het
Etaa1 A G 11: 17,896,053 (GRCm39) V688A possibly damaging Het
Fam120c C T X: 150,127,495 (GRCm39) H84Y probably benign Het
Fbxl7 T A 15: 26,789,616 (GRCm39) N37I probably damaging Het
Fndc3b A T 3: 27,523,086 (GRCm39) W498R probably damaging Het
Galc G A 12: 98,173,699 (GRCm39) A621V probably benign Het
Gch1 A T 14: 47,426,519 (GRCm39) I69N probably damaging Het
Gdpd4 T C 7: 97,615,466 (GRCm39) V97A possibly damaging Het
Hirip3 C T 7: 126,463,567 (GRCm39) R485* probably null Het
Hmgcs2 C T 3: 98,204,748 (GRCm39) T302I possibly damaging Het
Ing5 A T 1: 93,740,409 (GRCm39) K137I possibly damaging Het
Kcnh8 T A 17: 53,146,236 (GRCm39) Y375N probably damaging Het
Kdm3a C A 6: 71,573,674 (GRCm39) W963L probably benign Het
Klra17 T G 6: 129,842,651 (GRCm39) I216L possibly damaging Het
Kmt2e A G 5: 23,669,770 (GRCm39) K86E possibly damaging Het
Krt42 T C 11: 100,155,867 (GRCm39) N293S possibly damaging Het
Lrrc8d T A 5: 105,960,216 (GRCm39) W209R probably damaging Het
Mettl23 C T 11: 116,734,469 (GRCm39) P13S unknown Het
Ncln T C 10: 81,323,527 (GRCm39) Y540C probably damaging Het
Neb C G 2: 52,135,360 (GRCm39) G3250A probably damaging Het
Nebl A G 2: 17,393,501 (GRCm39) probably null Het
Nqo2 A T 13: 34,156,399 (GRCm39) T38S probably benign Het
Obscn A T 11: 59,026,693 (GRCm39) I170N probably benign Het
Or2bd2 G T 7: 6,443,417 (GRCm39) G173W probably damaging Het
Or4c100 A G 2: 88,356,170 (GRCm39) D81G probably benign Het
Or5af2 A T 11: 58,708,709 (GRCm39) N292Y probably damaging Het
Or5p6 C T 7: 107,630,798 (GRCm39) V251I probably damaging Het
Or7g28 T A 9: 19,271,824 (GRCm39) I276F possibly damaging Het
Or8k38 A T 2: 86,488,024 (GRCm39) Y259* probably null Het
Pacs1 A T 19: 5,189,057 (GRCm39) V775E probably damaging Het
Pheta2 A T 15: 82,225,227 (GRCm39) probably benign Het
Pmfbp1 T C 8: 110,262,445 (GRCm39) I713T probably benign Het
Pnma8b A G 7: 16,679,589 (GRCm39) D191G unknown Het
Polr1a T C 6: 71,943,521 (GRCm39) I1252T probably damaging Het
Prss16 A T 13: 22,192,754 (GRCm39) M110K probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Rab5b C A 10: 128,519,063 (GRCm39) probably null Het
Reln G T 5: 22,549,200 (GRCm39) Y69* probably null Het
Rgs12 T A 5: 35,123,165 (GRCm39) M316K probably damaging Het
Rmi2 T C 16: 10,657,743 (GRCm39) C118R possibly damaging Het
Rnf223 T A 4: 156,216,834 (GRCm39) C70S probably damaging Het
Rxrb T A 17: 34,255,626 (GRCm39) F371Y probably damaging Het
Smurf2 T A 11: 106,759,463 (GRCm39) S78C probably damaging Het
Sorbs1 A T 19: 40,332,798 (GRCm39) probably null Het
Spag17 C T 3: 100,032,614 (GRCm39) probably benign Het
Spidr T C 16: 15,871,319 (GRCm39) H217R probably benign Het
Tiam2 T G 17: 3,498,729 (GRCm39) V835G possibly damaging Het
Tm2d2 C T 8: 25,510,548 (GRCm39) R136* probably null Het
Tnks C T 8: 35,316,489 (GRCm39) D877N probably damaging Het
Trps1 A G 15: 50,694,840 (GRCm39) I485T probably damaging Het
Tubgcp5 A G 7: 55,456,331 (GRCm39) S308G probably benign Het
Ugt8a T C 3: 125,661,130 (GRCm39) H454R probably damaging Het
Usp32 G T 11: 84,913,559 (GRCm39) T924K probably damaging Het
Vmn2r91 A T 17: 18,356,819 (GRCm39) K829* probably null Het
Zfc3h1 T C 10: 115,248,328 (GRCm39) F1146L possibly damaging Het
Zfp729a G T 13: 67,767,820 (GRCm39) A803E probably benign Het
Zfp990 A G 4: 145,264,171 (GRCm39) T390A probably 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
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
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'- GAGGTAGGCAAGGCTTACTTTC -3'
(R):5'- AACCACTGACCTGCTGAAGC -3'

Sequencing Primer
(F):5'- CAAGGCTTACTTTCTTTGATTGTCAG -3'
(R):5'- TGAGATAGGACTGGTGCCC -3'
Posted On 2022-02-07