Incidental Mutation 'R1061:Tns1'
ID |
94423 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tns1
|
Ensembl Gene |
ENSMUSG00000055322 |
Gene Name |
tensin 1 |
Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
MMRRC Submission |
039147-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R1061 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 73956831 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 530
(V530G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000187691]
[ENSMUST00000191104]
[ENSMUST00000212888]
|
AlphaFold |
E9Q0S6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169786
AA Change: V1794G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127715 Gene: ENSMUSG00000055322 AA Change: V1794G
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: V1610G
|
Predicted Effect |
unknown
Transcript: ENSMUST00000185702
AA Change: V1624G
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187584
AA Change: V1729G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140254 Gene: ENSMUSG00000055322 AA Change: V1729G
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: ENSMUST00000187691
AA Change: V530G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139844 Gene: ENSMUSG00000055322 AA Change: V530G
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 |
probably damaging
Transcript: ENSMUST00000191104
AA Change: V1773G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140317 Gene: ENSMUSG00000055322 AA Change: V1773G
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: ENSMUST00000212888
AA Change: V1786G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,108,153 (GRCm39) |
A715T |
probably benign |
Het |
Ampd2 |
A |
G |
3: 107,983,005 (GRCm39) |
Y641H |
probably damaging |
Het |
Aqp4 |
A |
T |
18: 15,531,248 (GRCm39) |
V171E |
probably damaging |
Het |
Arid4a |
T |
A |
12: 71,121,729 (GRCm39) |
S381R |
probably damaging |
Het |
Armc8 |
T |
G |
9: 99,419,784 (GRCm39) |
N51H |
probably damaging |
Het |
Asic5 |
T |
A |
3: 81,928,308 (GRCm39) |
Y424N |
probably damaging |
Het |
Bcl11a |
A |
T |
11: 24,114,069 (GRCm39) |
K471* |
probably null |
Het |
Birc6 |
A |
G |
17: 74,996,307 (GRCm39) |
T4494A |
probably damaging |
Het |
Btbd9 |
A |
G |
17: 30,746,409 (GRCm39) |
I139T |
probably benign |
Het |
Ccdc60 |
C |
A |
5: 116,310,527 (GRCm39) |
R178S |
possibly damaging |
Het |
Cd163 |
C |
T |
6: 124,286,128 (GRCm39) |
A226V |
probably benign |
Het |
Cibar2 |
C |
A |
8: 120,896,443 (GRCm39) |
|
probably null |
Het |
Cog1 |
T |
G |
11: 113,542,863 (GRCm39) |
S170A |
probably benign |
Het |
Cwc15 |
T |
C |
9: 14,419,211 (GRCm39) |
L169P |
probably damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,923,643 (GRCm39) |
D333E |
probably benign |
Het |
Ddc |
C |
T |
11: 11,779,132 (GRCm39) |
V331I |
probably benign |
Het |
Dlc1 |
T |
A |
8: 37,325,205 (GRCm39) |
T367S |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,943,514 (GRCm39) |
D3183G |
possibly damaging |
Het |
Eif2a |
T |
A |
3: 58,452,486 (GRCm39) |
Y165* |
probably null |
Het |
Eml6 |
T |
C |
11: 29,727,267 (GRCm39) |
D1285G |
probably damaging |
Het |
Fasn |
T |
C |
11: 120,713,008 (GRCm39) |
|
probably null |
Het |
Fbn1 |
T |
C |
2: 125,187,883 (GRCm39) |
T1549A |
probably benign |
Het |
Fezf2 |
T |
C |
14: 12,342,713 (GRCm38) |
Y384C |
probably damaging |
Het |
Flvcr1 |
A |
T |
1: 190,740,370 (GRCm39) |
V550E |
probably benign |
Het |
Gcm2 |
A |
G |
13: 41,259,347 (GRCm39) |
W41R |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,782,247 (GRCm39) |
M160K |
possibly damaging |
Het |
Gpr61 |
C |
T |
3: 108,057,623 (GRCm39) |
R346H |
probably damaging |
Het |
Hoxa5 |
A |
T |
6: 52,181,135 (GRCm39) |
S66T |
probably benign |
Het |
Hsph1 |
A |
T |
5: 149,541,883 (GRCm39) |
V781D |
possibly damaging |
Het |
Kdm3b |
G |
A |
18: 34,929,915 (GRCm39) |
V220M |
probably damaging |
Het |
Klhl25 |
T |
A |
7: 75,516,268 (GRCm39) |
Y391* |
probably null |
Het |
Mc2r |
A |
T |
18: 68,540,880 (GRCm39) |
Y138N |
probably damaging |
Het |
Mtap |
C |
A |
4: 89,074,821 (GRCm39) |
D106E |
probably benign |
Het |
Nup43 |
G |
T |
10: 7,543,435 (GRCm39) |
W37L |
probably damaging |
Het |
Nxpe2 |
T |
A |
9: 48,237,663 (GRCm39) |
E197D |
probably damaging |
Het |
Odad1 |
T |
C |
7: 45,591,179 (GRCm39) |
I218T |
probably damaging |
Het |
Or10d1c |
C |
A |
9: 38,893,779 (GRCm39) |
C187F |
probably damaging |
Het |
Or55b4 |
T |
A |
7: 102,133,321 (GRCm39) |
*335C |
probably null |
Het |
Or5p60 |
T |
C |
7: 107,723,663 (GRCm39) |
Y269C |
probably damaging |
Het |
Or8h8 |
A |
T |
2: 86,753,126 (GRCm39) |
V250D |
possibly damaging |
Het |
Pitrm1 |
A |
G |
13: 6,605,611 (GRCm39) |
H186R |
probably damaging |
Het |
Pklr |
C |
T |
3: 89,052,188 (GRCm39) |
R467C |
probably damaging |
Het |
Plxna2 |
A |
G |
1: 194,326,401 (GRCm39) |
N112D |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Ppp3cb |
A |
C |
14: 20,558,682 (GRCm39) |
|
probably null |
Het |
R3hcc1l |
C |
T |
19: 42,571,865 (GRCm39) |
R135* |
probably null |
Het |
Ralyl |
A |
C |
3: 14,180,761 (GRCm39) |
D68A |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
S100a1 |
T |
C |
3: 90,418,619 (GRCm39) |
N65S |
probably damaging |
Het |
Scn11a |
A |
T |
9: 119,624,729 (GRCm39) |
M531K |
probably damaging |
Het |
Slc5a5 |
T |
A |
8: 71,342,865 (GRCm39) |
M232L |
probably benign |
Het |
Tet3 |
A |
T |
6: 83,350,305 (GRCm39) |
N1054K |
probably damaging |
Het |
Tg |
A |
G |
15: 66,570,408 (GRCm39) |
N1427D |
probably benign |
Het |
Trcg1 |
C |
A |
9: 57,153,156 (GRCm39) |
Q600K |
possibly damaging |
Het |
Tshz3 |
A |
G |
7: 36,468,131 (GRCm39) |
E40G |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,334,420 (GRCm39) |
F1138S |
possibly damaging |
Het |
Vmn2r26 |
C |
T |
6: 124,038,603 (GRCm39) |
T726I |
probably benign |
Het |
Vmn2r97 |
A |
T |
17: 19,148,440 (GRCm39) |
R112* |
probably null |
Het |
Vwa2 |
G |
T |
19: 56,897,426 (GRCm39) |
R577L |
probably benign |
Het |
Vwa3b |
A |
C |
1: 37,196,511 (GRCm39) |
Q46P |
probably damaging |
Het |
Wdr25 |
T |
A |
12: 108,958,725 (GRCm39) |
|
probably null |
Het |
Wrap53 |
A |
G |
11: 69,453,226 (GRCm39) |
L405P |
probably damaging |
Het |
Zfp629 |
C |
A |
7: 127,211,161 (GRCm39) |
W216L |
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 |
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'- GGCCACCCTTTAGAAGGTTGGATG -3'
(R):5'- CCACAGGTGCAAATTGGAATCCCC -3'
Sequencing Primer
(F):5'- catacacacacacacacacac -3'
(R):5'- GCAAATTGGAATCCCCTGTCAG -3'
|
Posted On |
2014-01-05 |