Incidental Mutation 'R2208:Tns1'
| ID |
236757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tns1
|
| Ensembl Gene |
ENSMUSG00000055322 |
| Gene Name |
tensin 1 |
| Synonyms |
1110018I21Rik, 1200014E20Rik, E030018G17Rik, E030037J05Rik, Tns |
| MMRRC Submission |
040210-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.569)
|
| Stock # |
R2208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
73910231-74124449 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 74079240 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 77
(I77S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000188208]
[ENSMUST00000191104]
[ENSMUST00000212888]
|
| AlphaFold |
E9Q0S6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169786
AA Change: I77S
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: I77S
| 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 damaging
Transcript: ENSMUST00000187584
AA Change: I36S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: I36S
| 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 |
possibly damaging
Transcript: ENSMUST00000188208
AA Change: I31S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140837
Gene: ENSMUSG00000055322
AA Change: I31S
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
16 |
62 |
8.6e-5 |
SMART |
|
low complexity region
|
108 |
119 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191104
AA Change: I77S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: I77S
| 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 |
unknown
Transcript: ENSMUST00000191204
AA Change: I50S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212888
AA Change: I77S
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.2087 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (51/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410089E03Rik |
T |
A |
15: 8,194,403 (GRCm38) |
N883K |
probably benign |
Het |
| Ahnak |
T |
C |
19: 9,017,732 (GRCm38) |
V5460A |
probably benign |
Het |
| Bco2 |
A |
G |
9: 50,533,455 (GRCm38) |
V517A |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,532,344 (GRCm38) |
D183E |
probably damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,107,960 (GRCm38) |
|
probably null |
Het |
| Ccdc39 |
A |
G |
3: 33,841,178 (GRCm38) |
L34P |
probably damaging |
Het |
| Cdc42bpb |
T |
A |
12: 111,336,029 (GRCm38) |
H198L |
probably damaging |
Het |
| Cdc73 |
T |
A |
1: 143,609,382 (GRCm38) |
E516V |
probably damaging |
Het |
| Cep170b |
T |
A |
12: 112,738,985 (GRCm38) |
L1059Q |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,678,099 (GRCm38) |
L56P |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,265,355 (GRCm38) |
V22D |
probably damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,560,961 (GRCm38) |
Y308H |
possibly damaging |
Het |
| Cyp2d12 |
T |
C |
15: 82,556,936 (GRCm38) |
L141P |
probably damaging |
Het |
| Cyp4x1 |
G |
T |
4: 115,126,594 (GRCm38) |
Q85K |
probably benign |
Het |
| Dpysl5 |
G |
A |
5: 30,791,597 (GRCm38) |
D399N |
probably damaging |
Het |
| Enpp7 |
T |
C |
11: 118,988,762 (GRCm38) |
|
probably benign |
Het |
| Fabp3 |
C |
T |
4: 130,312,387 (GRCm38) |
T57I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,472,684 (GRCm38) |
|
probably benign |
Het |
| Gm14139 |
T |
A |
2: 150,193,145 (GRCm38) |
V462E |
probably benign |
Het |
| Gng10 |
T |
A |
4: 59,035,314 (GRCm38) |
I26N |
possibly damaging |
Het |
| Gpr33 |
C |
T |
12: 52,023,453 (GRCm38) |
V268I |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,380,297 (GRCm38) |
C1182Y |
probably damaging |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Krt36 |
C |
T |
11: 100,102,939 (GRCm38) |
V358M |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,247,877 (GRCm38) |
I328V |
probably benign |
Het |
| Lrp8 |
T |
C |
4: 107,855,790 (GRCm38) |
V580A |
probably damaging |
Het |
| Masp2 |
T |
C |
4: 148,614,415 (GRCm38) |
I651T |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,134,109 (GRCm38) |
C62F |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,590,108 (GRCm38) |
S118T |
probably damaging |
Het |
| Muc19 |
T |
C |
15: 91,871,549 (GRCm38) |
|
noncoding transcript |
Het |
| Nabp1 |
G |
A |
1: 51,477,614 (GRCm38) |
R32* |
probably null |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 84,716,247 (GRCm38) |
|
probably null |
Het |
| Nup88 |
T |
C |
11: 70,965,719 (GRCm38) |
D196G |
probably damaging |
Het |
| Olfr747 |
T |
C |
14: 50,681,563 (GRCm38) |
I24V |
probably benign |
Het |
| Pax1 |
T |
A |
2: 147,365,802 (GRCm38) |
I198N |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,250,347 (GRCm38) |
E253G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,696,131 (GRCm38) |
R1192Q |
probably damaging |
Het |
| Pianp |
C |
A |
6: 124,999,639 (GRCm38) |
P137Q |
probably damaging |
Het |
| Prdm15 |
A |
C |
16: 97,799,264 (GRCm38) |
|
probably null |
Het |
| Ptprf |
A |
T |
4: 118,269,172 (GRCm38) |
|
probably benign |
Het |
| Rfx7 |
A |
G |
9: 72,617,964 (GRCm38) |
D812G |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,050,232 (GRCm38) |
T691A |
probably benign |
Het |
| Rundc3a |
A |
T |
11: 102,402,088 (GRCm38) |
S436C |
probably damaging |
Het |
| Sntb1 |
T |
C |
15: 55,906,318 (GRCm38) |
T92A |
possibly damaging |
Het |
| Tarsl2 |
T |
C |
7: 65,682,848 (GRCm38) |
S566P |
probably damaging |
Het |
| Tbc1d32 |
A |
T |
10: 56,150,792 (GRCm38) |
|
probably null |
Het |
| Tep1 |
T |
C |
14: 50,866,864 (GRCm38) |
Q191R |
probably benign |
Het |
| Tmc2 |
C |
A |
2: 130,214,563 (GRCm38) |
|
probably null |
Het |
| Trpd52l3 |
T |
C |
19: 30,004,246 (GRCm38) |
W134R |
probably damaging |
Het |
| Vmn2r15 |
A |
C |
5: 109,297,443 (GRCm38) |
N38K |
possibly damaging |
Het |
| Wdr90 |
A |
T |
17: 25,860,388 (GRCm38) |
D257E |
probably damaging |
Het |
| Zbtb9 |
T |
C |
17: 26,974,124 (GRCm38) |
C168R |
possibly damaging |
Het |
|
| Other mutations in Tns1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00954:Tns1
|
APN |
1 |
73,924,969 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01288:Tns1
|
APN |
1 |
73,953,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01536:Tns1
|
APN |
1 |
73,919,648 (GRCm38) |
splice site |
probably benign |
|
|
IGL01568:Tns1
|
APN |
1 |
73,953,509 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01683:Tns1
|
APN |
1 |
73,953,269 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02267:Tns1
|
APN |
1 |
73,992,131 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02597:Tns1
|
APN |
1 |
73,985,873 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02819:Tns1
|
APN |
1 |
73,937,248 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03370:Tns1
|
APN |
1 |
73,985,894 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0087:Tns1
|
UTSW |
1 |
73,916,917 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0207:Tns1
|
UTSW |
1 |
73,937,318 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R0411:Tns1
|
UTSW |
1 |
73,925,761 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0543:Tns1
|
UTSW |
1 |
73,952,697 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0552:Tns1
|
UTSW |
1 |
73,920,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0720:Tns1
|
UTSW |
1 |
73,925,581 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0828:Tns1
|
UTSW |
1 |
73,919,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1034:Tns1
|
UTSW |
1 |
73,941,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1061:Tns1
|
UTSW |
1 |
73,917,672 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1819:Tns1
|
UTSW |
1 |
73,916,476 (GRCm38) |
splice site |
probably benign |
|
|
R1826:Tns1
|
UTSW |
1 |
73,953,634 (GRCm38) |
start codon destroyed |
probably null |
0.91 |
|
R3723:Tns1
|
UTSW |
1 |
73,924,940 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4079:Tns1
|
UTSW |
1 |
73,995,308 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4111:Tns1
|
UTSW |
1 |
73,941,932 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4155:Tns1
|
UTSW |
1 |
73,914,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4156:Tns1
|
UTSW |
1 |
73,914,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4157:Tns1
|
UTSW |
1 |
73,914,631 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4274:Tns1
|
UTSW |
1 |
73,928,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4426:Tns1
|
UTSW |
1 |
73,985,749 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4649:Tns1
|
UTSW |
1 |
73,953,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4742:Tns1
|
UTSW |
1 |
74,124,290 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4869:Tns1
|
UTSW |
1 |
73,952,615 (GRCm38) |
missense |
probably benign |
|
|
R4961:Tns1
|
UTSW |
1 |
73,935,915 (GRCm38) |
missense |
probably benign |
0.35 |
|
R5025:Tns1
|
UTSW |
1 |
73,925,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5035:Tns1
|
UTSW |
1 |
73,953,820 (GRCm38) |
start gained |
probably benign |
|
|
R5062:Tns1
|
UTSW |
1 |
73,952,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5080:Tns1
|
UTSW |
1 |
73,952,940 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5213:Tns1
|
UTSW |
1 |
73,953,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5256:Tns1
|
UTSW |
1 |
73,995,426 (GRCm38) |
intron |
probably benign |
|
|
R5368:Tns1
|
UTSW |
1 |
73,941,017 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5391:Tns1
|
UTSW |
1 |
73,990,409 (GRCm38) |
splice site |
probably null |
|
|
R5587:Tns1
|
UTSW |
1 |
73,920,596 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5735:Tns1
|
UTSW |
1 |
73,927,979 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5855:Tns1
|
UTSW |
1 |
73,918,033 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5999:Tns1
|
UTSW |
1 |
73,928,097 (GRCm38) |
nonsense |
probably null |
|
|
R6122:Tns1
|
UTSW |
1 |
73,952,419 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6148:Tns1
|
UTSW |
1 |
73,953,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6457:Tns1
|
UTSW |
1 |
73,918,050 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6525:Tns1
|
UTSW |
1 |
73,953,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6712:Tns1
|
UTSW |
1 |
74,079,301 (GRCm38) |
nonsense |
probably null |
|
|
R6773:Tns1
|
UTSW |
1 |
73,919,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6825:Tns1
|
UTSW |
1 |
74,002,323 (GRCm38) |
nonsense |
probably null |
|
|
R7085:Tns1
|
UTSW |
1 |
73,925,462 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7128:Tns1
|
UTSW |
1 |
73,995,304 (GRCm38) |
missense |
|
|
|
R7209:Tns1
|
UTSW |
1 |
73,953,915 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7348:Tns1
|
UTSW |
1 |
73,916,917 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7570:Tns1
|
UTSW |
1 |
73,953,479 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7670:Tns1
|
UTSW |
1 |
73,952,477 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7769:Tns1
|
UTSW |
1 |
73,953,371 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7833:Tns1
|
UTSW |
1 |
74,091,331 (GRCm38) |
intron |
probably benign |
|
|
R8052:Tns1
|
UTSW |
1 |
73,953,437 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8225:Tns1
|
UTSW |
1 |
73,985,887 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8244:Tns1
|
UTSW |
1 |
73,937,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8321:Tns1
|
UTSW |
1 |
73,985,780 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8344:Tns1
|
UTSW |
1 |
73,985,042 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8378:Tns1
|
UTSW |
1 |
73,937,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8434:Tns1
|
UTSW |
1 |
73,925,606 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8773:Tns1
|
UTSW |
1 |
73,937,248 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9211:Tns1
|
UTSW |
1 |
73,917,789 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R9251:Tns1
|
UTSW |
1 |
73,991,696 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9315:Tns1
|
UTSW |
1 |
73,940,982 (GRCm38) |
missense |
|
|
|
R9411:Tns1
|
UTSW |
1 |
73,953,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9592:Tns1
|
UTSW |
1 |
73,990,394 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9658:Tns1
|
UTSW |
1 |
73,942,024 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9658:Tns1
|
UTSW |
1 |
73,942,023 (GRCm38) |
missense |
probably benign |
0.14 |
|
Z1177:Tns1
|
UTSW |
1 |
74,002,307 (GRCm38) |
missense |
probably benign |
0.12 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCATGTGCTTGTCACCTAG -3'
(R):5'- GGCACTTCATTCCTACCAGG -3'
Sequencing Primer
(F):5'- CCTAGCTAGGTGTTCAGTGTCC -3'
(R):5'- CTACCAGGGTACTTGCCTTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation