Incidental Mutation 'R5062:Tns1'
ID |
386656 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tns1
|
Ensembl Gene |
ENSMUSG00000055322 |
Gene Name |
tensin 1 |
Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
MMRRC Submission |
042652-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R5062 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 73992023 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 885
(L885Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148638
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000191104]
[ENSMUST00000191367]
[ENSMUST00000212888]
|
AlphaFold |
E9Q0S6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169786
AA Change: L885Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127715 Gene: ENSMUSG00000055322 AA Change: L885Q
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: L715Q
|
Predicted Effect |
unknown
Transcript: ENSMUST00000185702
AA Change: L715Q
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187584
AA Change: L841Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140254 Gene: ENSMUSG00000055322 AA Change: L841Q
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 |
probably damaging
Transcript: ENSMUST00000191104
AA Change: L885Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140317 Gene: ENSMUSG00000055322 AA Change: L885Q
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 |
probably benign
Transcript: ENSMUST00000191367
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212888
AA Change: L885Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.0810 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.1%
|
Validation Efficiency |
100% (79/79) |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,067,892 (GRCm39) |
I1593N |
probably benign |
Het |
Akr1b10 |
G |
T |
6: 34,369,041 (GRCm39) |
K173N |
probably damaging |
Het |
Artn |
A |
T |
4: 117,784,873 (GRCm39) |
L3Q |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,655,775 (GRCm39) |
S1262T |
possibly damaging |
Het |
Atp6v0a4 |
A |
T |
6: 38,051,118 (GRCm39) |
M420K |
probably benign |
Het |
Bcam |
T |
A |
7: 19,494,026 (GRCm39) |
T422S |
possibly damaging |
Het |
Casp2 |
C |
T |
6: 42,246,206 (GRCm39) |
|
probably benign |
Het |
Ccdc137 |
A |
G |
11: 120,353,341 (GRCm39) |
|
probably benign |
Het |
Cd177 |
C |
A |
7: 24,443,741 (GRCm39) |
A786S |
probably benign |
Het |
Cdca4 |
T |
C |
12: 112,785,483 (GRCm39) |
N82D |
probably benign |
Het |
Clu |
A |
C |
14: 66,217,177 (GRCm39) |
T337P |
probably damaging |
Het |
Col6a3 |
A |
C |
1: 90,707,074 (GRCm39) |
I2013S |
unknown |
Het |
Cpne9 |
T |
A |
6: 113,281,449 (GRCm39) |
M510K |
probably damaging |
Het |
Cyp3a13 |
A |
C |
5: 137,897,161 (GRCm39) |
N384K |
possibly damaging |
Het |
Fam186a |
A |
C |
15: 99,842,527 (GRCm39) |
I1239S |
possibly damaging |
Het |
Fryl |
T |
C |
5: 73,233,236 (GRCm39) |
E413G |
possibly damaging |
Het |
Fscn2 |
A |
C |
11: 120,257,575 (GRCm39) |
Y312S |
probably damaging |
Het |
Fshr |
A |
T |
17: 89,293,474 (GRCm39) |
C401* |
probably null |
Het |
Glyat |
A |
C |
19: 12,627,627 (GRCm39) |
Q74P |
probably damaging |
Het |
Gm6158 |
A |
T |
14: 24,120,158 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
A |
G |
6: 110,623,097 (GRCm39) |
N90S |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,791,662 (GRCm39) |
C2536S |
probably damaging |
Het |
Herc3 |
C |
T |
6: 58,832,745 (GRCm39) |
Q137* |
probably null |
Het |
Kctd3 |
A |
C |
1: 188,727,890 (GRCm39) |
|
probably benign |
Het |
Klhl30 |
A |
G |
1: 91,283,300 (GRCm39) |
T301A |
probably benign |
Het |
Klra9 |
T |
C |
6: 130,156,072 (GRCm39) |
K228E |
possibly damaging |
Het |
Lamc3 |
A |
T |
2: 31,795,679 (GRCm39) |
T355S |
possibly damaging |
Het |
Lcmt1 |
A |
C |
7: 123,010,053 (GRCm39) |
|
probably null |
Het |
Limch1 |
C |
T |
5: 67,126,578 (GRCm39) |
P60S |
probably damaging |
Het |
Lrfn2 |
A |
G |
17: 49,377,528 (GRCm39) |
D203G |
probably damaging |
Het |
Mc5r |
T |
C |
18: 68,472,352 (GRCm39) |
L237P |
probably damaging |
Het |
Mknk2 |
G |
A |
10: 80,507,603 (GRCm39) |
R58W |
probably damaging |
Het |
Mrgpra2b |
T |
C |
7: 47,152,676 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Nae1 |
A |
T |
8: 105,243,334 (GRCm39) |
C395S |
possibly damaging |
Het |
Ncoa1 |
A |
G |
12: 4,309,333 (GRCm39) |
M1321T |
probably damaging |
Het |
Neb |
A |
C |
2: 52,170,513 (GRCm39) |
F1720V |
possibly damaging |
Het |
Nectin2 |
C |
T |
7: 19,472,198 (GRCm39) |
V64I |
probably benign |
Het |
Nisch |
T |
A |
14: 30,894,397 (GRCm39) |
T1145S |
probably damaging |
Het |
Nlrp5 |
A |
T |
7: 23,135,335 (GRCm39) |
R1009* |
probably null |
Het |
Or12d13 |
A |
T |
17: 37,647,822 (GRCm39) |
H100Q |
probably damaging |
Het |
Or4k15 |
T |
A |
14: 50,364,894 (GRCm39) |
Y287N |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pak1ip1 |
A |
G |
13: 41,161,621 (GRCm39) |
|
probably benign |
Het |
Pcm1 |
T |
C |
8: 41,712,297 (GRCm39) |
V189A |
probably damaging |
Het |
Peak1 |
G |
T |
9: 56,167,573 (GRCm39) |
N118K |
probably damaging |
Het |
Phgdh |
T |
A |
3: 98,235,655 (GRCm39) |
I121F |
probably damaging |
Het |
Pi4ka |
G |
T |
16: 17,127,261 (GRCm39) |
A1064E |
probably benign |
Het |
Pkhd1 |
A |
C |
1: 20,655,935 (GRCm39) |
C199W |
probably benign |
Het |
Plat |
A |
G |
8: 23,262,327 (GRCm39) |
D117G |
probably benign |
Het |
Ppp2r2b |
C |
A |
18: 42,821,526 (GRCm39) |
V211L |
possibly damaging |
Het |
Ptgs1 |
A |
G |
2: 36,127,294 (GRCm39) |
D60G |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,715,240 (GRCm39) |
E2776G |
probably damaging |
Het |
Sema4c |
C |
T |
1: 36,592,059 (GRCm39) |
|
probably null |
Het |
Sharpin |
T |
C |
15: 76,231,811 (GRCm39) |
|
probably benign |
Het |
Slamf6 |
A |
G |
1: 171,764,100 (GRCm39) |
I164M |
possibly damaging |
Het |
Slco1a7 |
A |
C |
6: 141,713,180 (GRCm39) |
M67R |
possibly damaging |
Het |
Spef1 |
A |
G |
2: 131,015,201 (GRCm39) |
Y46H |
probably damaging |
Het |
Spns1 |
G |
A |
7: 125,973,501 (GRCm39) |
|
probably benign |
Het |
Supt5 |
C |
T |
7: 28,028,440 (GRCm39) |
|
probably null |
Het |
Tbx5 |
T |
A |
5: 119,974,987 (GRCm39) |
D3E |
probably damaging |
Het |
Thbs1 |
T |
C |
2: 117,951,718 (GRCm39) |
|
probably null |
Het |
Tmem140 |
G |
A |
6: 34,849,897 (GRCm39) |
V138M |
probably damaging |
Het |
Tmem200a |
T |
A |
10: 25,869,813 (GRCm39) |
D152V |
probably damaging |
Het |
Tmem200b |
A |
G |
4: 131,649,848 (GRCm39) |
D256G |
probably damaging |
Het |
Umod |
G |
A |
7: 119,071,644 (GRCm39) |
Q366* |
probably null |
Het |
Vsir |
A |
G |
10: 60,200,042 (GRCm39) |
I208V |
probably damaging |
Het |
Zfp646 |
G |
A |
7: 127,479,671 (GRCm39) |
R616H |
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 |
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 |
|
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'- ATAAGGCCTGCCAGAAGAGACC -3'
(R):5'- GGGTCTGAATTCATGGCAAC -3'
Sequencing Primer
(F):5'- CAGAAGAGACCAGCTCCGG -3'
(R):5'- TGGCAACAGCAGCAGCC -3'
|
Posted On |
2016-06-06 |