Incidental Mutation 'R7128:Tns1'
ID 552429
Institutional Source Beutler Lab
Gene Symbol Tns1
Ensembl Gene ENSMUSG00000055322
Gene Name tensin 1
Synonyms E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns
Accession Numbers
Essential gene? Possibly essential (E-score: 0.565) question?
Stock # R7128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74034463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 144 (I144N)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000188208] [ENSMUST00000190389] [ENSMUST00000191104] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect possibly damaging
Transcript: ENSMUST00000169786
AA Change: I193N

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: I193N

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
Predicted Effect probably damaging
Transcript: ENSMUST00000187584
AA Change: I149N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: I149N

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: ENSMUST00000188208
SMART Domains Protein: ENSMUSP00000140837
Gene: ENSMUSG00000055322

DomainStartEndE-ValueType
C1 16 62 8.6e-5 SMART
low complexity region 108 119 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000190389
AA Change: I85N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140448
Gene: ENSMUSG00000055322
AA Change: I85N

DomainStartEndE-ValueType
low complexity region 46 59 N/A INTRINSIC
PDB:3AWF|C 68 137 8e-10 PDB
SCOP:d1d5ra2 68 142 5e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000191104
AA Change: I193N

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: I193N

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
Predicted Effect probably damaging
Transcript: ENSMUST00000212888
AA Change: I193N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,347,985 (GRCm39) D25G probably benign Het
Ak9 T C 10: 41,300,713 (GRCm39) V1641A unknown Het
Akirin2 T C 4: 34,562,435 (GRCm39) I118T probably benign Het
Aldh1l1 G T 6: 90,540,361 (GRCm39) Q215H probably benign Het
Arhgef26 T C 3: 62,326,971 (GRCm39) F495L possibly damaging Het
Atg4a-ps T A 3: 103,553,063 (GRCm39) R93* probably null Het
Brd10 T C 19: 29,693,881 (GRCm39) T1871A possibly damaging Het
Catsper3 A G 13: 55,946,662 (GRCm39) I120V probably benign Het
Cavin2 A G 1: 51,328,579 (GRCm39) Q12R possibly damaging Het
Cenpf A T 1: 189,417,188 (GRCm39) F39Y probably damaging Het
Chfr T C 5: 110,291,502 (GRCm39) Y107H probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Defb4 T A 8: 19,251,220 (GRCm39) I29K possibly damaging Het
Dnah7c A G 1: 46,566,645 (GRCm39) T619A probably benign Het
Duxf1 T C 10: 58,059,479 (GRCm39) Q425R unknown Het
Emc3 A G 6: 113,494,881 (GRCm39) L179P probably damaging Het
Eno3 G C 11: 70,549,430 (GRCm39) V84L possibly damaging Het
Fam110a C T 2: 151,812,642 (GRCm39) V43M probably damaging Het
Fbxo30 T A 10: 11,165,860 (GRCm39) L194* probably null Het
Galnt14 T C 17: 73,852,096 (GRCm39) T108A probably benign Het
Glipr2 T C 4: 43,968,601 (GRCm39) I51T probably benign Het
Gm1527 C T 3: 28,969,460 (GRCm39) S270F possibly damaging Het
Gm3336 A G 8: 71,171,203 (GRCm39) M1V probably null Het
Gm4744 T C 6: 40,927,310 (GRCm39) D15G Het
Gm4924 G A 10: 82,214,533 (GRCm39) C777Y unknown Het
Gm5901 G A 7: 105,027,408 (GRCm39) G306S probably damaging Het
Gon4l T A 3: 88,802,999 (GRCm39) N1203K possibly damaging Het
Gpr161 A T 1: 165,138,026 (GRCm39) Y204F possibly damaging Het
Igsf10 T C 3: 59,236,326 (GRCm39) E1285G probably benign Het
Irx6 T C 8: 93,403,994 (GRCm39) L187P probably damaging Het
Itgb1bp1 A G 12: 21,322,089 (GRCm39) Y117H probably benign Het
Itln1 C A 1: 171,358,143 (GRCm39) D202Y possibly damaging Het
Kctd9 T C 14: 67,975,972 (GRCm39) S242P probably benign Het
Lrrk2 A G 15: 91,686,088 (GRCm39) H2143R probably benign Het
Lynx1 G A 15: 74,623,398 (GRCm39) R50* probably null Het
Lypd11 C T 7: 24,425,424 (GRCm39) probably null Het
Map10 A G 8: 126,398,592 (GRCm39) I662V probably benign Het
Mlxipl T C 5: 135,162,705 (GRCm39) L691P probably damaging Het
Muc16 A G 9: 18,554,300 (GRCm39) S3998P unknown Het
Nalcn A T 14: 123,831,914 (GRCm39) V120E probably damaging Het
Nfat5 T C 8: 108,085,323 (GRCm39) S539P probably benign Het
Olfml3 T C 3: 103,644,484 (GRCm39) M62V probably benign Het
Orm3 T C 4: 63,276,062 (GRCm39) V158A probably benign Het
Pakap T C 4: 57,855,816 (GRCm39) S382P probably benign Het
Pced1b A T 15: 97,282,479 (GRCm39) K173* probably null Het
Pdzd7 T C 19: 45,016,388 (GRCm39) D911G probably damaging Het
Pkn3 A G 2: 29,973,327 (GRCm39) D383G probably damaging Het
Pm20d1 A G 1: 131,725,292 (GRCm39) E46G probably benign Het
Pyroxd2 A T 19: 42,719,842 (GRCm39) S455T probably benign Het
Rmnd5b T A 11: 51,515,364 (GRCm39) I301F possibly damaging Het
Rnf225 A G 7: 12,661,911 (GRCm39) N30S probably benign Het
Shisal2a G T 4: 108,225,100 (GRCm39) T154K probably benign Het
Slfn3 T A 11: 83,105,721 (GRCm39) C573S probably benign Het
Smc6 A G 12: 11,351,632 (GRCm39) E887G probably damaging Het
Sp140 A T 1: 85,547,846 (GRCm39) D191V possibly damaging Het
Srf C T 17: 46,866,372 (GRCm39) S128N possibly damaging Het
Sult6b1 T C 17: 79,202,070 (GRCm39) D144G probably damaging Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Syt10 A T 15: 89,698,314 (GRCm39) D343E probably damaging Het
Tgtp2 G A 11: 48,950,135 (GRCm39) R146C possibly damaging Het
Tmcc3 A T 10: 94,266,496 (GRCm39) probably benign Het
Tnfrsf1a A T 6: 125,338,499 (GRCm39) T337S probably benign Het
Trim11 A G 11: 58,869,103 (GRCm39) E13G probably damaging Het
Trpm6 A T 19: 18,789,137 (GRCm39) H569L possibly damaging Het
Ttbk2 T A 2: 120,576,569 (GRCm39) I803L probably benign Het
Vmn1r21 G T 6: 57,820,936 (GRCm39) N169K probably damaging Het
Vmn2r60 C T 7: 41,844,536 (GRCm39) T633I probably damaging Het
Wt1 T C 2: 104,957,670 (GRCm39) Y177H 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
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
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'- CTAAGACAGAGTGAAACCCTGG -3'
(R):5'- TCCCCATCAGGATCCTTTAAGAAAC -3'

Sequencing Primer
(F):5'- AGAGTGAAACCCTGGGCCTTG -3'
(R):5'- AAGAAACTTCTGCCTGCCTG -3'
Posted On 2019-05-15