Incidental Mutation 'R4961:Tns1'
| ID |
381737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tns1
|
| Ensembl Gene |
ENSMUSG00000055322 |
| Gene Name |
tensin 1 |
| Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
| MMRRC Submission |
042558-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
R4961 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73975074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1170
(V1170A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000191104]
[ENSMUST00000212888]
|
| AlphaFold |
E9Q0S6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169786
AA Change: V1170A
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: V1170A
| 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 |
unknown
Transcript: ENSMUST00000185702
AA Change: V1000A
|
| 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: ENSMUST00000189228
|
| 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
AA Change: V1162A
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0615 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 88.3%
|
| Validation Efficiency |
95% (62/65) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
T |
C |
5: 139,349,855 (GRCm39) |
K65E |
probably damaging |
Het |
| Acp5 |
C |
A |
9: 22,041,233 (GRCm39) |
A65S |
probably benign |
Het |
| Adad2 |
G |
A |
8: 120,342,397 (GRCm39) |
R345H |
probably damaging |
Het |
| Adamts7 |
G |
T |
9: 90,067,793 (GRCm39) |
G428W |
probably damaging |
Het |
| Amy1 |
A |
G |
3: 113,355,498 (GRCm39) |
S326P |
probably damaging |
Het |
| Ankrd44 |
C |
T |
1: 54,703,071 (GRCm39) |
D482N |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Ano8 |
G |
C |
8: 71,935,640 (GRCm39) |
P326R |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,367,046 (GRCm39) |
E793G |
probably damaging |
Het |
| Cd9 |
A |
T |
6: 125,440,703 (GRCm39) |
V96E |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,850,914 (GRCm39) |
N561S |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,948,272 (GRCm39) |
|
probably null |
Het |
| Cpne7 |
G |
A |
8: 123,860,498 (GRCm39) |
G484R |
probably damaging |
Het |
| Dcun1d4 |
A |
T |
5: 73,701,463 (GRCm39) |
K194* |
probably null |
Het |
| Dock3 |
A |
G |
9: 106,818,515 (GRCm39) |
V1193A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,007,904 (GRCm39) |
R113G |
possibly damaging |
Het |
| Epha5 |
A |
T |
5: 84,381,502 (GRCm39) |
S450T |
probably damaging |
Het |
| Gm5581 |
A |
T |
6: 131,144,190 (GRCm39) |
|
noncoding transcript |
Het |
| Grhl3 |
A |
G |
4: 135,279,918 (GRCm39) |
Y379H |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
| Jam2 |
C |
T |
16: 84,606,435 (GRCm39) |
Q150* |
probably null |
Het |
| Jph2 |
C |
G |
2: 163,217,668 (GRCm39) |
R336P |
probably damaging |
Het |
| Kansl3 |
T |
A |
1: 36,387,764 (GRCm39) |
|
probably null |
Het |
| Kctd1 |
G |
A |
18: 15,195,580 (GRCm39) |
P348S |
probably damaging |
Het |
| Klhl30 |
T |
A |
1: 91,285,106 (GRCm39) |
S321T |
possibly damaging |
Het |
| Klhl5 |
T |
C |
5: 65,310,033 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
T |
C |
8: 26,084,108 (GRCm39) |
H41R |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,572,161 (GRCm39) |
T187A |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,431 (GRCm39) |
N216S |
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,680,234 (GRCm39) |
Y437C |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 121,009,159 (GRCm39) |
Y290H |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,417,035 (GRCm39) |
|
probably null |
Het |
| Or2m12 |
C |
A |
16: 19,104,726 (GRCm39) |
G256W |
probably damaging |
Het |
| Or4k51 |
A |
T |
2: 111,584,750 (GRCm39) |
D52V |
probably damaging |
Het |
| Or8g34 |
A |
G |
9: 39,373,183 (GRCm39) |
Y152C |
probably damaging |
Het |
| Otof |
C |
A |
5: 30,540,837 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,215,249 (GRCm39) |
|
probably null |
Het |
| Pgk2 |
G |
A |
17: 40,518,412 (GRCm39) |
P339S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,186,032 (GRCm39) |
|
probably null |
Het |
| Prex2 |
A |
G |
1: 11,168,705 (GRCm39) |
T234A |
possibly damaging |
Het |
| Rasgrf1 |
C |
T |
9: 89,826,922 (GRCm39) |
T177M |
probably benign |
Het |
| Rgs1 |
A |
T |
1: 144,124,309 (GRCm39) |
|
probably null |
Het |
| Snx25 |
T |
C |
8: 46,521,229 (GRCm39) |
N239S |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,716 (GRCm39) |
H804L |
possibly damaging |
Het |
| Spon2 |
A |
T |
5: 33,371,896 (GRCm39) |
Y303* |
probably null |
Het |
| Spopfm2 |
A |
T |
3: 94,082,841 (GRCm39) |
C323* |
probably null |
Het |
| Thrb |
G |
A |
14: 18,011,076 (GRCm38) |
D151N |
probably benign |
Het |
| Trbv19 |
A |
T |
6: 41,155,706 (GRCm39) |
I26F |
probably damaging |
Het |
| Tstd2 |
T |
C |
4: 46,120,467 (GRCm39) |
N311S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,715,746 (GRCm39) |
|
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn1r185 |
G |
A |
7: 26,310,716 (GRCm39) |
A263V |
probably benign |
Het |
| Zfp316 |
T |
C |
5: 143,239,169 (GRCm39) |
H950R |
probably damaging |
Het |
| Zfp51 |
A |
G |
17: 21,676,615 (GRCm39) |
K29E |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,766,081 (GRCm39) |
|
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 |
|
|
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'- AGCTAGCATTCAGGCAGTG -3'
(R):5'- TGTGCAGAGTAGCTCAGCTTC -3'
Sequencing Primer
(F):5'- CCCAGAGTGGCATTTCATTGTCAG -3'
(R):5'- AGAGTAGCTCAGCTTCCAGCC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation