Incidental Mutation 'R1061:Tns1'
ID 94423
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms 1110018I21Rik, 1200014E20Rik, E030018G17Rik, E030037J05Rik, Tns
MMRRC Submission 039147-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.569) question?
Stock # R1061 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 73910231-74124449 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 73917672 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 530 (V530G)
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: V1794G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: V1794G

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 unknown
Transcript: ENSMUST00000185331
AA Change: V1610G
Predicted Effect unknown
Transcript: ENSMUST00000185702
AA Change: V1624G
Predicted Effect probably damaging
Transcript: ENSMUST00000187584
AA Change: V1729G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: V1729G

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: ENSMUST00000187691
AA Change: V530G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000139844
Gene: ENSMUSG00000055322
AA Change: V530G

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: V1773G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: V1773G

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: V1786G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,277,809 (GRCm38) A715T probably benign Het
Ampd2 A G 3: 108,075,689 (GRCm38) Y641H probably damaging Het
Aqp4 A T 18: 15,398,191 (GRCm38) V171E probably damaging Het
Arid4a T A 12: 71,074,955 (GRCm38) S381R probably damaging Het
Armc8 T G 9: 99,537,731 (GRCm38) N51H probably damaging Het
Asic5 T A 3: 82,021,001 (GRCm38) Y424N probably damaging Het
Bcl11a A T 11: 24,164,069 (GRCm38) K471* probably null Het
Birc6 A G 17: 74,689,312 (GRCm38) T4494A probably damaging Het
Btbd9 A G 17: 30,527,435 (GRCm38) I139T probably benign Het
Ccdc114 T C 7: 45,941,755 (GRCm38) I218T probably damaging Het
Ccdc60 C A 5: 116,172,468 (GRCm38) R178S possibly damaging Het
Cd163 C T 6: 124,309,169 (GRCm38) A226V probably benign Het
Cog1 T G 11: 113,652,037 (GRCm38) S170A probably benign Het
Cwc15 T C 9: 14,507,915 (GRCm38) L169P probably damaging Het
Cyp3a25 A T 5: 145,986,833 (GRCm38) D333E probably benign Het
Ddc C T 11: 11,829,132 (GRCm38) V331I probably benign Het
Dlc1 T A 8: 36,858,051 (GRCm38) T367S probably benign Het
Dnah17 T C 11: 118,052,688 (GRCm38) D3183G possibly damaging Het
Eif2a T A 3: 58,545,065 (GRCm38) Y165* probably null Het
Eml6 T C 11: 29,777,267 (GRCm38) D1285G probably damaging Het
Fam92b C A 8: 120,169,704 (GRCm38) probably null Het
Fasn T C 11: 120,822,182 (GRCm38) probably null Het
Fbn1 T C 2: 125,345,963 (GRCm38) T1549A probably benign Het
Fezf2 T C 14: 12,342,713 (GRCm38) Y384C probably damaging Het
Flvcr1 A T 1: 191,008,173 (GRCm38) V550E probably benign Het
Gcm2 A G 13: 41,105,871 (GRCm38) W41R probably damaging Het
Gli2 A T 1: 118,854,517 (GRCm38) M160K possibly damaging Het
Gpr61 C T 3: 108,150,307 (GRCm38) R346H probably damaging Het
Hoxa5 A T 6: 52,204,155 (GRCm38) S66T probably benign Het
Hsph1 A T 5: 149,618,418 (GRCm38) V781D possibly damaging Het
Kdm3b G A 18: 34,796,862 (GRCm38) V220M probably damaging Het
Klhl25 T A 7: 75,866,520 (GRCm38) Y391* probably null Het
Mc2r A T 18: 68,407,809 (GRCm38) Y138N probably damaging Het
Mtap C A 4: 89,156,584 (GRCm38) D106E probably benign Het
Nup43 G T 10: 7,667,671 (GRCm38) W37L probably damaging Het
Nxpe2 T A 9: 48,326,363 (GRCm38) E197D probably damaging Het
Olfr1098 A T 2: 86,922,782 (GRCm38) V250D possibly damaging Het
Olfr484 T C 7: 108,124,456 (GRCm38) Y269C probably damaging Het
Olfr544 T A 7: 102,484,114 (GRCm38) *335C probably null Het
Olfr934 C A 9: 38,982,483 (GRCm38) C187F probably damaging Het
Pitrm1 A G 13: 6,555,575 (GRCm38) H186R probably damaging Het
Pklr C T 3: 89,144,881 (GRCm38) R467C probably damaging Het
Plxna2 A G 1: 194,644,093 (GRCm38) N112D probably damaging Het
Ppp1r16a C T 15: 76,693,669 (GRCm38) Q328* probably null Het
Ppp3cb A C 14: 20,508,614 (GRCm38) probably null Het
R3hcc1l C T 19: 42,583,426 (GRCm38) R135* probably null Het
Ralyl A C 3: 14,115,701 (GRCm38) D68A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 (GRCm38) probably benign Het
S100a1 T C 3: 90,511,312 (GRCm38) N65S probably damaging Het
Scn11a A T 9: 119,795,663 (GRCm38) M531K probably damaging Het
Slc5a5 T A 8: 70,890,221 (GRCm38) M232L probably benign Het
Tet3 A T 6: 83,373,323 (GRCm38) N1054K probably damaging Het
Tg A G 15: 66,698,559 (GRCm38) N1427D probably benign Het
Trcg1 C A 9: 57,245,873 (GRCm38) Q600K possibly damaging Het
Tshz3 A G 7: 36,768,706 (GRCm38) E40G probably damaging Het
Usp34 T C 11: 23,384,420 (GRCm38) F1138S possibly damaging Het
Vmn2r26 C T 6: 124,061,644 (GRCm38) T726I probably benign Het
Vmn2r97 A T 17: 18,928,178 (GRCm38) R112* probably null Het
Vwa2 G T 19: 56,908,994 (GRCm38) R577L probably benign Het
Vwa3b A C 1: 37,157,430 (GRCm38) Q46P probably damaging Het
Wdr25 T A 12: 108,992,799 (GRCm38) probably null Het
Wrap53 A G 11: 69,562,400 (GRCm38) L405P probably damaging Het
Zfp629 C A 7: 127,611,989 (GRCm38) W216L probably damaging Het
Other mutations in Tns1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00954:Tns1 APN 1 73,924,969 (GRCm38) missense probably damaging 0.99
IGL01288:Tns1 APN 1 73,953,810 (GRCm38) missense probably damaging 1.00
IGL01536:Tns1 APN 1 73,919,648 (GRCm38) splice site probably benign
IGL01568:Tns1 APN 1 73,953,509 (GRCm38) missense probably damaging 1.00
IGL01683:Tns1 APN 1 73,953,269 (GRCm38) missense probably damaging 0.98
IGL02267:Tns1 APN 1 73,992,131 (GRCm38) missense possibly damaging 0.95
IGL02597:Tns1 APN 1 73,985,873 (GRCm38) critical splice donor site probably null
IGL02819:Tns1 APN 1 73,937,248 (GRCm38) missense probably damaging 0.99
IGL03370:Tns1 APN 1 73,985,894 (GRCm38) missense probably damaging 1.00
R0087:Tns1 UTSW 1 73,916,917 (GRCm38) missense possibly damaging 0.95
R0207:Tns1 UTSW 1 73,937,318 (GRCm38) critical splice acceptor site probably null
R0411:Tns1 UTSW 1 73,925,761 (GRCm38) missense probably damaging 0.96
R0543:Tns1 UTSW 1 73,952,697 (GRCm38) missense probably benign 0.01
R0552:Tns1 UTSW 1 73,920,563 (GRCm38) missense probably damaging 1.00
R0720:Tns1 UTSW 1 73,925,581 (GRCm38) missense probably benign 0.03
R0828:Tns1 UTSW 1 73,919,666 (GRCm38) missense probably damaging 1.00
R1034:Tns1 UTSW 1 73,941,969 (GRCm38) missense probably damaging 1.00
R1819:Tns1 UTSW 1 73,916,476 (GRCm38) splice site probably benign
R1826:Tns1 UTSW 1 73,953,634 (GRCm38) start codon destroyed probably null 0.91
R2208:Tns1 UTSW 1 74,079,240 (GRCm38) missense probably damaging 1.00
R3723:Tns1 UTSW 1 73,924,940 (GRCm38) missense probably damaging 0.99
R4079:Tns1 UTSW 1 73,995,308 (GRCm38) missense probably damaging 1.00
R4111:Tns1 UTSW 1 73,941,932 (GRCm38) missense probably damaging 1.00
R4155:Tns1 UTSW 1 73,914,631 (GRCm38) missense probably damaging 1.00
R4156:Tns1 UTSW 1 73,914,631 (GRCm38) missense probably damaging 1.00
R4157:Tns1 UTSW 1 73,914,631 (GRCm38) missense probably damaging 1.00
R4274:Tns1 UTSW 1 73,928,098 (GRCm38) missense probably damaging 1.00
R4426:Tns1 UTSW 1 73,985,749 (GRCm38) missense probably damaging 0.97
R4649:Tns1 UTSW 1 73,953,771 (GRCm38) missense probably damaging 1.00
R4742:Tns1 UTSW 1 74,124,290 (GRCm38) critical splice donor site probably null
R4869:Tns1 UTSW 1 73,952,615 (GRCm38) missense probably benign
R4961:Tns1 UTSW 1 73,935,915 (GRCm38) missense probably benign 0.35
R5025:Tns1 UTSW 1 73,925,482 (GRCm38) missense probably damaging 1.00
R5035:Tns1 UTSW 1 73,953,820 (GRCm38) start gained probably benign
R5062:Tns1 UTSW 1 73,952,864 (GRCm38) missense probably damaging 1.00
R5080:Tns1 UTSW 1 73,952,940 (GRCm38) missense probably damaging 1.00
R5213:Tns1 UTSW 1 73,953,612 (GRCm38) missense probably damaging 1.00
R5256:Tns1 UTSW 1 73,995,426 (GRCm38) intron probably benign
R5368:Tns1 UTSW 1 73,941,017 (GRCm38) missense probably benign 0.07
R5391:Tns1 UTSW 1 73,990,409 (GRCm38) splice site probably null
R5587:Tns1 UTSW 1 73,920,596 (GRCm38) missense possibly damaging 0.94
R5735:Tns1 UTSW 1 73,927,979 (GRCm38) missense probably benign 0.00
R5855:Tns1 UTSW 1 73,918,033 (GRCm38) missense possibly damaging 0.83
R5999:Tns1 UTSW 1 73,928,097 (GRCm38) nonsense probably null
R6122:Tns1 UTSW 1 73,952,419 (GRCm38) critical splice donor site probably null
R6148:Tns1 UTSW 1 73,953,453 (GRCm38) missense probably damaging 1.00
R6457:Tns1 UTSW 1 73,918,050 (GRCm38) missense probably damaging 0.99
R6525:Tns1 UTSW 1 73,953,470 (GRCm38) missense probably damaging 1.00
R6712:Tns1 UTSW 1 74,079,301 (GRCm38) nonsense probably null
R6773:Tns1 UTSW 1 73,919,707 (GRCm38) missense probably damaging 1.00
R6825:Tns1 UTSW 1 74,002,323 (GRCm38) nonsense probably null
R7085:Tns1 UTSW 1 73,925,462 (GRCm38) missense probably benign 0.00
R7128:Tns1 UTSW 1 73,995,304 (GRCm38) missense
R7209:Tns1 UTSW 1 73,953,915 (GRCm38) missense possibly damaging 0.68
R7348:Tns1 UTSW 1 73,916,917 (GRCm38) missense possibly damaging 0.95
R7570:Tns1 UTSW 1 73,953,479 (GRCm38) missense probably damaging 1.00
R7670:Tns1 UTSW 1 73,952,477 (GRCm38) missense possibly damaging 0.93
R7769:Tns1 UTSW 1 73,953,371 (GRCm38) missense probably damaging 0.99
R7833:Tns1 UTSW 1 74,091,331 (GRCm38) intron probably benign
R8052:Tns1 UTSW 1 73,953,437 (GRCm38) missense probably damaging 1.00
R8225:Tns1 UTSW 1 73,985,887 (GRCm38) missense probably damaging 1.00
R8244:Tns1 UTSW 1 73,937,251 (GRCm38) missense probably damaging 1.00
R8321:Tns1 UTSW 1 73,985,780 (GRCm38) critical splice acceptor site probably null
R8344:Tns1 UTSW 1 73,985,042 (GRCm38) missense probably damaging 1.00
R8378:Tns1 UTSW 1 73,937,246 (GRCm38) missense probably damaging 1.00
R8434:Tns1 UTSW 1 73,925,606 (GRCm38) missense probably benign 0.00
R8773:Tns1 UTSW 1 73,937,248 (GRCm38) missense probably damaging 0.99
R9211:Tns1 UTSW 1 73,917,789 (GRCm38) missense possibly damaging 0.63
R9251:Tns1 UTSW 1 73,991,696 (GRCm38) missense probably damaging 1.00
R9315:Tns1 UTSW 1 73,940,982 (GRCm38) missense
R9411:Tns1 UTSW 1 73,953,503 (GRCm38) missense probably damaging 1.00
R9592:Tns1 UTSW 1 73,990,394 (GRCm38) missense probably damaging 1.00
R9658:Tns1 UTSW 1 73,942,024 (GRCm38) missense probably benign 0.08
R9658:Tns1 UTSW 1 73,942,023 (GRCm38) missense probably benign 0.14
Z1177:Tns1 UTSW 1 74,002,307 (GRCm38) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- GGCCACCCTTTAGAAGGTTGGATG -3'
(R):5'- CCACAGGTGCAAATTGGAATCCCC -3'

Sequencing Primer
(F):5'- catacacacacacacacacac -3'
(R):5'- GCAAATTGGAATCCCCTGTCAG -3'
Posted On 2014-01-05