Incidental Mutation 'R8321:Tns1'
ID |
641932 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tns1
|
Ensembl Gene |
ENSMUSG00000055322 |
Gene Name |
tensin 1 |
Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
MMRRC Submission |
067723-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R8321 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 74024939 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000191104]
[ENSMUST00000212888]
|
AlphaFold |
E9Q0S6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000169786
|
SMART Domains |
Protein: ENSMUSP00000127715 Gene: ENSMUSG00000055322
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 |
probably null
Transcript: ENSMUST00000169786
|
SMART Domains |
Protein: ENSMUSP00000127715 Gene: ENSMUSG00000055322
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 |
probably benign
Transcript: ENSMUST00000185331
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185702
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187584
|
SMART Domains |
Protein: ENSMUSP00000140254 Gene: ENSMUSG00000055322
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 benign
Transcript: ENSMUST00000191104
|
SMART Domains |
Protein: ENSMUSP00000140317 Gene: ENSMUSG00000055322
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: ENSMUST00000212888
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap44 |
A |
G |
11: 64,899,053 (GRCm39) |
V708A |
probably benign |
Het |
Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
Bank1 |
T |
A |
3: 135,940,395 (GRCm39) |
E329V |
possibly damaging |
Het |
Ccdc162 |
C |
A |
10: 41,510,029 (GRCm39) |
A859S |
probably damaging |
Het |
Cdh11 |
T |
C |
8: 103,361,416 (GRCm39) |
R641G |
probably damaging |
Het |
Cfap58 |
A |
G |
19: 47,946,586 (GRCm39) |
E373G |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,470,024 (GRCm39) |
T529A |
probably benign |
Het |
Chtf18 |
G |
A |
17: 25,939,865 (GRCm39) |
T747I |
probably benign |
Het |
Cyp2j6 |
A |
G |
4: 96,441,684 (GRCm39) |
L2P |
probably benign |
Het |
Cyp4f18 |
G |
A |
8: 72,742,427 (GRCm39) |
P518S |
possibly damaging |
Het |
Dmrtc1a |
G |
A |
X: 101,952,221 (GRCm39) |
R8W |
probably benign |
Het |
Dpyd |
T |
C |
3: 118,575,573 (GRCm39) |
V137A |
possibly damaging |
Het |
Epha6 |
A |
G |
16: 59,736,317 (GRCm39) |
V739A |
probably damaging |
Het |
Ern2 |
C |
T |
7: 121,772,431 (GRCm39) |
A676T |
probably damaging |
Het |
Fam20c |
A |
T |
5: 138,743,686 (GRCm39) |
I241F |
possibly damaging |
Het |
Fastkd2 |
A |
G |
1: 63,787,138 (GRCm39) |
H524R |
probably benign |
Het |
Foxq1 |
T |
C |
13: 31,743,251 (GRCm39) |
Y118H |
probably damaging |
Het |
Gfm1 |
C |
T |
3: 67,337,594 (GRCm39) |
A8V |
probably benign |
Het |
Gfm2 |
C |
T |
13: 97,299,500 (GRCm39) |
T407M |
possibly damaging |
Het |
Gldc |
G |
A |
19: 30,120,807 (GRCm39) |
Q375* |
probably null |
Het |
Gm5114 |
A |
G |
7: 39,060,273 (GRCm39) |
I192T |
possibly damaging |
Het |
Gnb1 |
A |
T |
4: 155,639,482 (GRCm39) |
N237I |
possibly damaging |
Het |
Herc2 |
C |
T |
7: 55,879,096 (GRCm39) |
P4662S |
possibly damaging |
Het |
Herc3 |
C |
T |
6: 58,820,754 (GRCm39) |
S46F |
possibly damaging |
Het |
Hgsnat |
C |
T |
8: 26,461,179 (GRCm39) |
G153E |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
Invs |
T |
A |
4: 48,283,267 (GRCm39) |
D6E |
probably benign |
Het |
Jakmip3 |
T |
C |
7: 138,628,613 (GRCm39) |
V463A |
probably benign |
Het |
Jarid2 |
T |
A |
13: 45,001,862 (GRCm39) |
S96R |
probably damaging |
Het |
Krtap6-1 |
A |
C |
16: 88,828,624 (GRCm39) |
N7H |
unknown |
Het |
Matn4 |
A |
T |
2: 164,235,207 (GRCm39) |
V455D |
probably damaging |
Het |
Nbea |
G |
A |
3: 56,090,518 (GRCm39) |
P47S |
possibly damaging |
Het |
Oit3 |
T |
C |
10: 59,263,982 (GRCm39) |
H384R |
probably benign |
Het |
Or1e27-ps1 |
G |
A |
11: 73,556,362 (GRCm39) |
R309H |
unknown |
Het |
Or8b42 |
A |
T |
9: 38,341,850 (GRCm39) |
I91F |
probably damaging |
Het |
Pabpc4l |
T |
A |
3: 46,400,729 (GRCm39) |
D305V |
probably damaging |
Het |
Papln |
G |
A |
12: 83,821,715 (GRCm39) |
W314* |
probably null |
Het |
Pask |
G |
A |
1: 93,248,377 (GRCm39) |
R975C |
possibly damaging |
Het |
Pate13 |
G |
T |
9: 35,820,749 (GRCm39) |
C111F |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,640,380 (GRCm39) |
N542S |
probably benign |
Het |
Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
Sez6l2 |
C |
A |
7: 126,557,588 (GRCm39) |
T334N |
probably damaging |
Het |
Sh3d19 |
A |
G |
3: 86,001,071 (GRCm39) |
T256A |
probably damaging |
Het |
Slit2 |
A |
T |
5: 48,387,609 (GRCm39) |
N545Y |
probably damaging |
Het |
Sprtn |
A |
T |
8: 125,629,994 (GRCm39) |
D429V |
possibly damaging |
Het |
Srcap |
T |
C |
7: 127,140,068 (GRCm39) |
V1389A |
probably damaging |
Het |
Tecta |
C |
A |
9: 42,284,349 (GRCm39) |
C912F |
probably damaging |
Het |
Tprg1l |
A |
G |
4: 154,244,860 (GRCm39) |
V76A |
probably benign |
Het |
Trav12-2 |
G |
T |
14: 53,853,840 (GRCm39) |
|
probably benign |
Het |
Trio |
T |
C |
15: 27,881,412 (GRCm39) |
D612G |
possibly damaging |
Het |
Usp6nl |
A |
T |
2: 6,395,900 (GRCm39) |
Q36H |
possibly damaging |
Het |
Vps9d1 |
A |
T |
8: 123,975,544 (GRCm39) |
M167K |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,466,187 (GRCm39) |
L2140Q |
probably damaging |
Het |
Zfp512b |
A |
G |
2: 181,228,931 (GRCm39) |
V678A |
possibly damaging |
Het |
Zfp800 |
A |
G |
6: 28,242,992 (GRCm39) |
S658P |
probably damaging |
Het |
Zscan22 |
A |
G |
7: 12,637,625 (GRCm39) |
S6G |
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 |
|
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 |
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'- GCTTACAGGGGAATAGTCGC -3'
(R):5'- AACCCTACTCTGCAATGTCAGG -3'
Sequencing Primer
(F):5'- GGAATAGTCGCATGTCCCATGTC -3'
(R):5'- GACTCCTGGTCATGCCTG -3'
|
Posted On |
2020-07-28 |