Incidental Mutation 'R6148:Tns1'
ID |
488987 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tns1
|
Ensembl Gene |
ENSMUSG00000055322 |
Gene Name |
tensin 1 |
Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
MMRRC Submission |
044295-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R6148 (G1)
|
Quality Score |
89.0077 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73992612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 689
(T689A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140317
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000191104]
[ENSMUST00000191367]
[ENSMUST00000212888]
|
AlphaFold |
E9Q0S6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169786
AA Change: T689A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127715 Gene: ENSMUSG00000055322 AA Change: T689A
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: T519A
|
Predicted Effect |
unknown
Transcript: ENSMUST00000185702
AA Change: T519A
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187584
AA Change: T645A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140254 Gene: ENSMUSG00000055322 AA Change: T645A
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: T689A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140317 Gene: ENSMUSG00000055322 AA Change: T689A
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 damaging
Transcript: ENSMUST00000191367
AA Change: T62A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212888
AA Change: T689A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.0974 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
95% (61/64) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,234,200 (GRCm39) |
C1067S |
possibly damaging |
Het |
AAdacl4fm3 |
T |
C |
4: 144,447,887 (GRCm39) |
T30A |
possibly damaging |
Het |
Agbl3 |
T |
A |
6: 34,834,688 (GRCm39) |
S952R |
possibly damaging |
Het |
Ano9 |
A |
G |
7: 140,686,698 (GRCm39) |
Y429H |
probably damaging |
Het |
Bbs7 |
C |
A |
3: 36,667,415 (GRCm39) |
R7L |
probably damaging |
Het |
Birc2 |
T |
A |
9: 7,849,684 (GRCm39) |
D535V |
possibly damaging |
Het |
Catsper4 |
A |
G |
4: 133,945,240 (GRCm39) |
V206A |
probably damaging |
Het |
Ccdc73 |
T |
G |
2: 104,822,482 (GRCm39) |
S810R |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,443,698 (GRCm39) |
L800* |
probably null |
Het |
Cd34 |
T |
C |
1: 194,630,316 (GRCm39) |
|
probably null |
Het |
Cep78 |
G |
A |
19: 15,959,150 (GRCm39) |
R95* |
probably null |
Het |
Cfap69 |
T |
C |
5: 5,713,996 (GRCm39) |
D12G |
probably benign |
Het |
Cpne7 |
A |
G |
8: 123,854,171 (GRCm39) |
D286G |
probably benign |
Het |
Cwc22 |
ATCTCTCTCTCTCTCTCT |
ATCTCTCTCTCTCTCT |
2: 77,759,803 (GRCm39) |
|
probably null |
Het |
Cxcl5 |
A |
T |
5: 90,907,565 (GRCm39) |
I46L |
probably benign |
Het |
Cyp19a1 |
C |
T |
9: 54,087,540 (GRCm39) |
G59D |
probably damaging |
Het |
Dclre1c |
A |
G |
2: 3,438,742 (GRCm39) |
D35G |
probably damaging |
Het |
Defa41 |
A |
G |
8: 21,692,428 (GRCm39) |
N83S |
probably benign |
Het |
Dvl1 |
A |
G |
4: 155,939,409 (GRCm39) |
Y279C |
probably damaging |
Het |
Fes |
A |
G |
7: 80,030,044 (GRCm39) |
L578P |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Fmn2 |
T |
C |
1: 174,494,229 (GRCm39) |
S1248P |
probably damaging |
Het |
Fmo1 |
T |
G |
1: 162,679,088 (GRCm39) |
S53R |
probably damaging |
Het |
Gabrg1 |
A |
T |
5: 70,931,804 (GRCm39) |
M313K |
probably damaging |
Het |
Galnt10 |
T |
C |
11: 57,675,474 (GRCm39) |
C578R |
probably damaging |
Het |
Gpr39 |
T |
C |
1: 125,800,323 (GRCm39) |
V358A |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,431,323 (GRCm39) |
R216G |
probably damaging |
Het |
Gsap |
A |
T |
5: 21,475,575 (GRCm39) |
T570S |
probably benign |
Het |
Gucy2d |
A |
T |
7: 98,093,030 (GRCm39) |
I136L |
probably benign |
Het |
Hap1 |
A |
T |
11: 100,240,218 (GRCm39) |
V294E |
probably damaging |
Het |
Ipo8 |
A |
G |
6: 148,701,278 (GRCm39) |
V514A |
probably damaging |
Het |
Irf5 |
T |
C |
6: 29,535,958 (GRCm39) |
L324P |
probably damaging |
Het |
Itsn1 |
C |
T |
16: 91,613,740 (GRCm39) |
R251C |
probably damaging |
Het |
Klf11 |
T |
C |
12: 24,701,567 (GRCm39) |
|
probably null |
Het |
Kpna6 |
G |
A |
4: 129,543,099 (GRCm39) |
Q439* |
probably null |
Het |
Mark4 |
A |
T |
7: 19,163,441 (GRCm39) |
S563T |
probably benign |
Het |
Mrpl21 |
A |
T |
19: 3,333,084 (GRCm39) |
I5L |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Myrf |
G |
A |
19: 10,189,839 (GRCm39) |
T815I |
probably damaging |
Het |
Olfr515-ps1 |
A |
T |
7: 108,444,178 (GRCm39) |
|
probably null |
Het |
Or10d4c |
G |
T |
9: 39,558,555 (GRCm39) |
D178Y |
probably damaging |
Het |
Or11g27 |
A |
G |
14: 50,771,778 (GRCm39) |
N303S |
probably benign |
Het |
Or4c15 |
C |
T |
2: 88,760,597 (GRCm39) |
V21I |
probably benign |
Het |
Or52n3 |
A |
G |
7: 104,530,289 (GRCm39) |
Y125C |
possibly damaging |
Het |
Os9 |
T |
C |
10: 126,935,812 (GRCm39) |
D280G |
probably benign |
Het |
Pcdhb14 |
A |
G |
18: 37,582,283 (GRCm39) |
N463S |
probably damaging |
Het |
Pex19 |
G |
A |
1: 171,961,606 (GRCm39) |
E271K |
probably damaging |
Het |
Ppdpf |
G |
A |
2: 180,829,641 (GRCm39) |
S32N |
probably benign |
Het |
Prdm2 |
A |
G |
4: 142,859,477 (GRCm39) |
I1271T |
probably benign |
Het |
Rbbp4 |
T |
C |
4: 129,215,751 (GRCm39) |
T262A |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Spaca9 |
G |
A |
2: 28,583,793 (GRCm39) |
R64W |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,727,770 (GRCm39) |
S171T |
probably damaging |
Het |
Unc13c |
G |
C |
9: 73,600,648 (GRCm39) |
N1365K |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,905,090 (GRCm39) |
I250V |
probably benign |
Het |
Vmn2r55 |
C |
A |
7: 12,402,069 (GRCm39) |
L406F |
probably benign |
Het |
Wdcp |
T |
C |
12: 4,900,621 (GRCm39) |
V159A |
possibly damaging |
Het |
Zbtb3 |
C |
T |
19: 8,781,560 (GRCm39) |
A391V |
probably benign |
Het |
Znhit1 |
A |
T |
5: 137,011,487 (GRCm39) |
S109T |
probably benign |
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 |
|
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 |
|
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'- TGACTGCTGTGGACAGGAATC -3'
(R):5'- ACCGCCTACTAAGTGGCTTTG -3'
Sequencing Primer
(F):5'- TGGACAGGAATCACCCGGTTG -3'
(R):5'- ATGTACCGGGCTCAGCAACTC -3'
|
Posted On |
2017-10-10 |