Incidental Mutation 'IGL00954:Tns1'
ID 26697
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00954
Quality Score
Status
Chromosome 1
Chromosomal Location 73949390-74163608 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 73964128 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 1501 (V1501G)
Ref Sequence ENSEMBL: ENSMUSP00000148638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169786] [ENSMUST00000187584] [ENSMUST00000191104] [ENSMUST00000187691] [ENSMUST00000212888]
AlphaFold E9Q0S6
Predicted Effect probably damaging
Transcript: ENSMUST00000169786
AA Change: V1509G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: V1509G

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 noncoding transcript
Transcript: ENSMUST00000185264
Predicted Effect unknown
Transcript: ENSMUST00000185331
AA Change: V1326G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185529
Predicted Effect unknown
Transcript: ENSMUST00000185702
AA Change: V1339G
Predicted Effect probably damaging
Transcript: ENSMUST00000187584
AA Change: V1444G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: V1444G

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: V1488G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: V1488G

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: ENSMUST00000187691
AA Change: V245G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139844
Gene: ENSMUSG00000055322
AA Change: V245G

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: ENSMUST00000212888
AA Change: V1501G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191527
Predicted Effect probably benign
Transcript: ENSMUST00000189228
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 C T 18: 61,972,756 (GRCm39) probably benign Het
Alox5 A T 6: 116,431,260 (GRCm39) V56D probably damaging Het
Atp1a2 A G 1: 172,118,201 (GRCm39) S158P probably damaging Het
B3glct T A 5: 149,619,902 (GRCm39) M19K probably benign Het
BC049715 A T 6: 136,817,093 (GRCm39) E111V possibly damaging Het
Casp8ap2 C A 4: 32,645,403 (GRCm39) T1492K probably damaging Het
Cfap221 T C 1: 119,861,939 (GRCm39) E612G probably damaging Het
Cttnbp2 C A 6: 18,381,061 (GRCm39) K868N possibly damaging Het
Dpy19l2 T A 9: 24,494,114 (GRCm39) N672I probably damaging Het
Ei24 A T 9: 36,701,166 (GRCm39) I51N probably damaging Het
Gdi2 T C 13: 3,606,467 (GRCm39) V181A probably benign Het
Ggt1 G A 10: 75,420,697 (GRCm39) R354Q probably benign Het
Hao1 A G 2: 134,340,181 (GRCm39) I370T possibly damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Jag2 G T 12: 112,884,026 (GRCm39) S184R possibly damaging Het
Kctd16 A G 18: 40,391,853 (GRCm39) D147G probably benign Het
Kiss1r T C 10: 79,757,834 (GRCm39) L396P probably damaging Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lrrc66 G T 5: 73,765,741 (GRCm39) T434K possibly damaging Het
Macroh2a1 A G 13: 56,222,132 (GRCm39) S340P possibly damaging Het
Mcm5 A T 8: 75,836,740 (GRCm39) N64Y possibly damaging Het
Mroh2b A T 15: 4,932,536 (GRCm39) Y54F probably damaging Het
Or10al6 T A 17: 38,083,505 (GRCm39) N329K probably benign Het
Or7g18 T A 9: 18,787,369 (GRCm39) S249T probably benign Het
Osgep T A 14: 51,153,619 (GRCm39) I320F probably benign Het
Pcdh18 T A 3: 49,710,838 (GRCm39) D159V probably damaging Het
Phf20l1 G A 15: 66,513,757 (GRCm39) V978I probably damaging Het
Phospho1 T A 11: 95,721,909 (GRCm39) V193E probably damaging Het
Pip4k2b T C 11: 97,635,331 (GRCm39) K34E probably damaging Het
Plb1 T C 5: 32,455,858 (GRCm39) probably benign Het
Safb2 A G 17: 56,885,639 (GRCm39) probably null Het
Sgsh T A 11: 119,237,311 (GRCm39) E434D probably benign Het
Tkt C T 14: 30,291,052 (GRCm39) H355Y probably damaging Het
Tmem128 A G 5: 38,419,389 (GRCm39) N47S probably damaging Het
Tmem232 A G 17: 65,807,148 (GRCm39) I15T probably damaging Het
Vmn2r24 G A 6: 123,792,596 (GRCm39) C641Y probably damaging Het
Vmn2r77 A G 7: 86,449,975 (GRCm39) T74A probably benign Het
Zfp820 T C 17: 22,038,860 (GRCm39) Y156C probably damaging Het
Other mutations in Tns1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-04-17