Incidental Mutation 'R5080:Tns1'
| ID |
387059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tns1
|
| Ensembl Gene |
ENSMUSG00000055322 |
| Gene Name |
tensin 1 |
| Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
| MMRRC Submission |
042669-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.565)
|
| Stock # |
R5080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73992099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 860
(P860T)
|
| 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: P860T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: P860T
| 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: P690T
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000185702
AA Change: P690T
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187584
AA Change: P816T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: P816T
| 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: P860T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: P860T
| 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: P860T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1183 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
96% (54/56) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
G |
A |
14: 103,286,744 (GRCm39) |
G16S |
possibly damaging |
Het |
| Adcy4 |
A |
T |
14: 56,009,832 (GRCm39) |
M740K |
probably damaging |
Het |
| Atp1a2 |
T |
C |
1: 172,112,012 (GRCm39) |
|
probably benign |
Het |
| Atrn |
T |
A |
2: 130,812,044 (GRCm39) |
I663N |
possibly damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,567,394 (GRCm39) |
|
probably null |
Het |
| Carf |
C |
A |
1: 60,189,772 (GRCm39) |
Q631K |
probably damaging |
Het |
| Ces1d |
T |
C |
8: 93,908,175 (GRCm39) |
D306G |
probably benign |
Het |
| Corin |
T |
A |
5: 72,511,194 (GRCm39) |
|
probably benign |
Het |
| Csf1r |
T |
C |
18: 61,257,373 (GRCm39) |
F575L |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,247,690 (GRCm39) |
D181G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,162,565 (GRCm39) |
M1I |
probably null |
Het |
| Dnah7b |
C |
T |
1: 46,221,540 (GRCm39) |
R1215* |
probably null |
Het |
| Dpp3 |
T |
A |
19: 4,965,108 (GRCm39) |
D464V |
probably benign |
Het |
| Drosha |
C |
A |
15: 12,842,229 (GRCm39) |
A344D |
probably benign |
Het |
| Fat3 |
G |
T |
9: 15,910,634 (GRCm39) |
S1789R |
probably benign |
Het |
| Fhip2a |
A |
T |
19: 57,361,713 (GRCm39) |
K134I |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,230 (GRCm39) |
T90A |
possibly damaging |
Het |
| Frrs1 |
T |
C |
3: 116,696,585 (GRCm39) |
I544T |
probably benign |
Het |
| Gm20939 |
T |
C |
17: 95,184,419 (GRCm39) |
C356R |
probably damaging |
Het |
| Ifi206 |
T |
A |
1: 173,301,414 (GRCm39) |
I755F |
possibly damaging |
Het |
| Kntc1 |
T |
A |
5: 123,900,649 (GRCm39) |
V249E |
possibly damaging |
Het |
| Lama5 |
A |
T |
2: 179,848,993 (GRCm39) |
L230* |
probably null |
Het |
| Lce1e |
C |
T |
3: 92,615,137 (GRCm39) |
C70Y |
unknown |
Het |
| Ltbp2 |
T |
C |
12: 84,850,638 (GRCm39) |
N892S |
probably damaging |
Het |
| Mfsd4b5 |
T |
A |
10: 39,846,570 (GRCm39) |
M337L |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,918,331 (GRCm39) |
C164S |
probably damaging |
Het |
| Or2y1b |
G |
T |
11: 49,208,914 (GRCm39) |
M180I |
probably benign |
Het |
| Or5j3 |
G |
A |
2: 86,128,258 (GRCm39) |
V33M |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,354,429 (GRCm39) |
S15P |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,750 (GRCm39) |
Y1076C |
probably benign |
Het |
| Pik3c2a |
T |
A |
7: 115,947,509 (GRCm39) |
H1391L |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,316,742 (GRCm39) |
Y573C |
probably benign |
Het |
| Prpf3 |
T |
A |
3: 95,741,109 (GRCm39) |
H600L |
probably benign |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Rpl15-ps6 |
A |
G |
15: 52,341,446 (GRCm39) |
|
noncoding transcript |
Het |
| Serpini1 |
T |
C |
3: 75,523,967 (GRCm39) |
S192P |
probably damaging |
Het |
| Sp110 |
G |
T |
1: 85,523,776 (GRCm39) |
Y18* |
probably null |
Het |
| Stard6 |
A |
T |
18: 70,629,293 (GRCm39) |
I126F |
probably damaging |
Het |
| Strip2 |
T |
A |
6: 29,945,592 (GRCm39) |
L660H |
probably damaging |
Het |
| Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
| Togaram1 |
T |
C |
12: 65,030,177 (GRCm39) |
S994P |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,912,816 (GRCm39) |
|
probably benign |
Het |
| Trank1 |
G |
A |
9: 111,218,289 (GRCm39) |
E1890K |
probably damaging |
Het |
| Wasf3 |
C |
T |
5: 146,397,907 (GRCm39) |
H225Y |
probably benign |
Het |
| Wdr37 |
A |
T |
13: 8,897,710 (GRCm39) |
|
probably null |
Het |
| Zbtb7c |
A |
C |
18: 76,270,413 (GRCm39) |
D167A |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,665,498 (GRCm39) |
T158A |
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 |
|
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'- ATATAGCCAGATCGGGACTGGG -3'
(R):5'- TCCCAGTCCTTTCCAGATGTGG -3'
Sequencing Primer
(F):5'- CCAGATCGGGACTGGGTAAGTG -3'
(R):5'- AGATGTGGAGCCCCAGC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation