Incidental Mutation 'R0087:Tns1'
ID |
19923 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tns1
|
Ensembl Gene |
ENSMUSG00000055322 |
Gene Name |
tensin 1 |
Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
MMRRC Submission |
038374-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R0087 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73956076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 549
(H549L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000187691]
[ENSMUST00000191104]
[ENSMUST00000212888]
|
AlphaFold |
E9Q0S6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169786
AA Change: H1813L
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127715 Gene: ENSMUSG00000055322 AA Change: H1813L
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 |
|
Predicted Effect |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187584
AA Change: H1748L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140254 Gene: ENSMUSG00000055322 AA Change: H1748L
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 |
possibly damaging
Transcript: ENSMUST00000187691
AA Change: H549L
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139844 Gene: ENSMUSG00000055322 AA Change: H549L
Domain | Start | End | E-Value | Type |
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 |
possibly damaging
Transcript: ENSMUST00000191104
AA Change: H1792L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140317 Gene: ENSMUSG00000055322 AA Change: H1792L
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: H1805L
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.5%
- 20x: 82.3%
|
Validation Efficiency |
86% (59/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,535,070 (GRCm39) |
I5732F |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,598,788 (GRCm39) |
V330E |
probably benign |
Het |
Agps |
T |
A |
2: 75,739,979 (GRCm39) |
Y488N |
probably damaging |
Het |
Ap3s1 |
A |
T |
18: 46,891,106 (GRCm39) |
R66S |
probably damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Atp2a2 |
C |
T |
5: 122,599,024 (GRCm39) |
V593I |
probably benign |
Het |
Chrna6 |
C |
T |
8: 27,897,014 (GRCm39) |
V288M |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,491,296 (GRCm39) |
L1232F |
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,740,288 (GRCm39) |
N1225D |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,106,875 (GRCm39) |
I128T |
probably benign |
Het |
Dnaaf11 |
T |
C |
15: 66,341,824 (GRCm39) |
T91A |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,350,759 (GRCm39) |
T2594S |
probably damaging |
Het |
Dnah8 |
G |
T |
17: 30,974,093 (GRCm39) |
R2826L |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,875 (GRCm39) |
Y104H |
probably damaging |
Het |
Fam222b |
C |
A |
11: 78,044,718 (GRCm39) |
T93N |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,554,006 (GRCm39) |
I211T |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,871,594 (GRCm39) |
T541A |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,109,738 (GRCm39) |
S589P |
unknown |
Het |
Foxj3 |
T |
A |
4: 119,483,597 (GRCm39) |
V589E |
unknown |
Het |
Gria1 |
A |
G |
11: 57,208,538 (GRCm39) |
Y742C |
probably damaging |
Het |
Inpp5d |
T |
C |
1: 87,642,860 (GRCm39) |
S672P |
probably damaging |
Het |
Lrrc19 |
A |
C |
4: 94,529,009 (GRCm39) |
F91C |
probably damaging |
Het |
Mppe1 |
A |
G |
18: 67,358,775 (GRCm39) |
*398R |
probably null |
Het |
Mroh3 |
T |
C |
1: 136,118,541 (GRCm39) |
I561V |
probably benign |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,998,444 (GRCm39) |
T121K |
possibly damaging |
Het |
Nbr1 |
A |
C |
11: 101,455,519 (GRCm39) |
D91A |
probably benign |
Het |
Ncam2 |
C |
A |
16: 81,231,789 (GRCm39) |
N84K |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,475 (GRCm39) |
Y118H |
probably damaging |
Het |
Or51ac3 |
A |
T |
7: 103,213,569 (GRCm39) |
C306S |
probably benign |
Het |
Or52h9 |
A |
G |
7: 104,202,869 (GRCm39) |
I248V |
possibly damaging |
Het |
Or52z13 |
A |
G |
7: 103,246,928 (GRCm39) |
Y135C |
probably benign |
Het |
Or6b6 |
A |
G |
7: 106,571,323 (GRCm39) |
V76A |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,194,585 (GRCm39) |
I121F |
probably damaging |
Het |
Peak1 |
A |
T |
9: 56,165,609 (GRCm39) |
I773N |
probably damaging |
Het |
Pfkfb4 |
G |
T |
9: 108,836,769 (GRCm39) |
V155F |
probably damaging |
Het |
Pkm |
C |
T |
9: 59,585,382 (GRCm39) |
R455* |
probably null |
Het |
Plbd2 |
C |
A |
5: 120,632,550 (GRCm39) |
E151* |
probably null |
Het |
Pld5 |
G |
A |
1: 175,812,025 (GRCm39) |
T353M |
probably damaging |
Het |
Psme2b |
A |
T |
11: 48,836,544 (GRCm39) |
D134E |
possibly damaging |
Het |
Rida |
T |
A |
15: 34,488,772 (GRCm39) |
D40V |
possibly damaging |
Het |
Rnf126 |
A |
T |
10: 79,595,068 (GRCm39) |
H265Q |
probably damaging |
Het |
Rock2 |
C |
A |
12: 16,978,967 (GRCm39) |
Q86K |
probably benign |
Het |
Serpinb1b |
A |
T |
13: 33,269,302 (GRCm39) |
T12S |
probably benign |
Het |
Slco6c1 |
T |
A |
1: 97,046,303 (GRCm39) |
Q277L |
probably benign |
Het |
Spmap2 |
A |
T |
10: 79,421,785 (GRCm39) |
Y144* |
probably null |
Het |
Sptlc2 |
T |
A |
12: 87,415,892 (GRCm39) |
H45L |
probably benign |
Het |
Srsf4 |
A |
G |
4: 131,627,641 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,454,719 (GRCm39) |
S2969G |
probably damaging |
Het |
Steap1 |
C |
T |
5: 5,786,664 (GRCm39) |
G258R |
probably damaging |
Het |
Stk19 |
A |
T |
17: 35,055,851 (GRCm39) |
M1K |
probably null |
Het |
Stk-ps2 |
C |
A |
1: 46,069,049 (GRCm39) |
|
noncoding transcript |
Het |
Taf1c |
C |
T |
8: 120,327,726 (GRCm39) |
R332H |
probably damaging |
Het |
Thbs4 |
T |
A |
13: 92,891,743 (GRCm39) |
T791S |
probably damaging |
Het |
Tjap1 |
A |
G |
17: 46,574,652 (GRCm39) |
L21P |
probably damaging |
Het |
Tmem145 |
A |
G |
7: 25,007,268 (GRCm39) |
Y148C |
probably damaging |
Het |
Tmem267 |
T |
A |
13: 120,070,810 (GRCm39) |
V155E |
probably benign |
Het |
Tyro3 |
T |
G |
2: 119,632,182 (GRCm39) |
I83S |
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn1r53 |
A |
T |
6: 90,200,413 (GRCm39) |
C304S |
probably benign |
Het |
Vwf |
G |
A |
6: 125,622,917 (GRCm39) |
M1761I |
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,991,786 (GRCm39) |
Y445H |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,578,536 (GRCm39) |
I859N |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTGCTCTCACTGCCCAGGACAC -3'
(R):5'- GGCCCGCTTTGAGCATACATAACAC -3'
Sequencing Primer
(F):5'- GGACACACCAAAGCCGTG -3'
(R):5'- tttctctctccctctccctc -3'
|
Posted On |
2013-04-11 |