Incidental Mutation 'R4426:Tns1'
ID |
328141 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tns1
|
Ensembl Gene |
ENSMUSG00000055322 |
Gene Name |
tensin 1 |
Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
MMRRC Submission |
041697-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.528)
|
Stock # |
R4426 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74024908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 403
(I403T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140317
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000191104]
[ENSMUST00000212888]
|
AlphaFold |
E9Q0S6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169786
AA Change: I403T
PolyPhen 2
Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127715 Gene: ENSMUSG00000055322 AA Change: I403T
Domain | Start | End | E-Value | Type |
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: I233T
|
Predicted Effect |
unknown
Transcript: ENSMUST00000185702
AA Change: I233T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186381
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187584
AA Change: I359T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140254 Gene: ENSMUSG00000055322 AA Change: I359T
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000188942
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191104
AA Change: I403T
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140317 Gene: ENSMUSG00000055322 AA Change: I403T
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000212888
AA Change: I403T
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191264
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Albfm1 |
G |
T |
5: 90,720,642 (GRCm39) |
C271F |
probably damaging |
Het |
Arhgef39 |
C |
T |
4: 43,497,112 (GRCm39) |
G293E |
possibly damaging |
Het |
Atp8a1 |
A |
C |
5: 67,932,171 (GRCm39) |
I206S |
probably benign |
Het |
Cacnb2 |
A |
T |
2: 14,980,026 (GRCm39) |
R290* |
probably null |
Het |
Ccdc137 |
T |
C |
11: 120,351,074 (GRCm39) |
S159P |
probably damaging |
Het |
Chil5 |
A |
G |
3: 105,926,943 (GRCm39) |
S231P |
probably damaging |
Het |
Cic |
C |
T |
7: 24,993,433 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,532,581 (GRCm39) |
V2434A |
possibly damaging |
Het |
Csnk1a1 |
A |
G |
18: 61,718,381 (GRCm39) |
|
probably benign |
Het |
Eif4e1b |
T |
C |
13: 54,932,296 (GRCm39) |
S49P |
probably benign |
Het |
Far1 |
C |
A |
7: 113,149,208 (GRCm39) |
P194Q |
probably benign |
Het |
Fut4 |
T |
C |
9: 14,662,677 (GRCm39) |
T206A |
possibly damaging |
Het |
Galnt7 |
G |
T |
8: 58,005,606 (GRCm39) |
S209* |
probably null |
Het |
Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
Hoxa13 |
C |
A |
6: 52,237,714 (GRCm39) |
|
probably benign |
Het |
Ighv1-9 |
T |
A |
12: 114,547,416 (GRCm39) |
K42* |
probably null |
Het |
Kif20a |
C |
T |
18: 34,764,994 (GRCm39) |
R743W |
probably damaging |
Het |
Lama2 |
G |
A |
10: 27,298,554 (GRCm39) |
R181C |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,336,692 (GRCm39) |
T1360K |
probably benign |
Het |
Map4k1 |
G |
A |
7: 28,688,020 (GRCm39) |
V177I |
probably damaging |
Het |
Nbea |
G |
A |
3: 55,989,800 (GRCm39) |
T352I |
probably damaging |
Het |
Nde1 |
A |
G |
16: 14,006,200 (GRCm39) |
T82A |
possibly damaging |
Het |
Nes |
A |
G |
3: 87,883,349 (GRCm39) |
E536G |
probably damaging |
Het |
Nms |
C |
T |
1: 38,978,377 (GRCm39) |
P4L |
probably benign |
Het |
Nrip1 |
T |
C |
16: 76,088,293 (GRCm39) |
Q1088R |
possibly damaging |
Het |
Nwd1 |
A |
G |
8: 73,393,423 (GRCm39) |
K229E |
probably damaging |
Het |
Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
Or52ad1 |
A |
G |
7: 102,995,290 (GRCm39) |
Y282H |
probably damaging |
Het |
Pcdhac2 |
T |
A |
18: 37,277,796 (GRCm39) |
S259T |
probably benign |
Het |
Pdcd5 |
T |
C |
7: 35,345,605 (GRCm39) |
D102G |
possibly damaging |
Het |
Pgm1 |
T |
C |
4: 99,819,337 (GRCm39) |
V169A |
probably benign |
Het |
Pitpnm2 |
C |
T |
5: 124,280,186 (GRCm39) |
E121K |
probably benign |
Het |
Plin3 |
T |
C |
17: 56,593,555 (GRCm39) |
Y53C |
probably damaging |
Het |
Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
Polr2c |
A |
T |
8: 95,590,090 (GRCm39) |
N232Y |
probably damaging |
Het |
Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rab3gap2 |
G |
A |
1: 184,967,539 (GRCm39) |
S141N |
probably damaging |
Het |
Radx |
T |
C |
X: 138,381,645 (GRCm39) |
V134A |
possibly damaging |
Het |
Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
Rnf166 |
A |
G |
8: 123,196,979 (GRCm39) |
L91P |
probably damaging |
Het |
Robo2 |
T |
A |
16: 73,745,154 (GRCm39) |
M200L |
probably damaging |
Het |
Rp1 |
A |
T |
1: 4,418,147 (GRCm39) |
H988Q |
probably benign |
Het |
Sbno2 |
T |
C |
10: 79,908,192 (GRCm39) |
K69R |
probably null |
Het |
Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
Shc3 |
C |
G |
13: 51,634,130 (GRCm39) |
|
probably null |
Het |
Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
Sptbn4 |
A |
C |
7: 27,123,223 (GRCm39) |
L233R |
probably damaging |
Het |
Stx5a |
A |
G |
19: 8,727,104 (GRCm39) |
T252A |
probably benign |
Het |
Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
Tmem87b |
C |
T |
2: 128,688,670 (GRCm39) |
A485V |
probably benign |
Het |
Ttll10 |
G |
C |
4: 156,133,018 (GRCm39) |
T22R |
possibly damaging |
Het |
Uevld |
A |
T |
7: 46,589,890 (GRCm39) |
S293T |
probably benign |
Het |
Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
Vmn1r39 |
A |
T |
6: 66,782,345 (GRCm39) |
|
probably null |
Het |
Vmn2r106 |
A |
G |
17: 20,505,641 (GRCm39) |
S18P |
probably benign |
Het |
Vmn2r61 |
A |
T |
7: 41,950,157 (GRCm39) |
H859L |
probably benign |
Het |
Vmn2r61 |
T |
C |
7: 41,950,159 (GRCm39) |
S860P |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,387,036 (GRCm39) |
R843* |
probably null |
Het |
Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
Zfp715 |
T |
C |
7: 42,960,516 (GRCm39) |
D25G |
probably damaging |
Het |
|
Other mutations in Tns1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTCCCTGAAGATGTCCCAGAG -3'
(R):5'- TCCGCATCTACCAAGCCATG -3'
Sequencing Primer
(F):5'- TTCTCTCCAAGGGAAGAAGTTGGATC -3'
(R):5'- ATGCAACCTGTGTACACATCTGG -3'
|
Posted On |
2015-07-07 |