Incidental Mutation 'R5855:Tns1'
| ID |
454845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tns1
|
| Ensembl Gene |
ENSMUSG00000055322 |
| Gene Name |
tensin 1 |
| Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
| MMRRC Submission |
043229-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.528)
|
| Stock # |
R5855 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73957192 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Aspartic acid
at position 1674
(A1674D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000187691]
[ENSMUST00000191104]
[ENSMUST00000212888]
|
| AlphaFold |
E9Q0S6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169786
AA Change: A1739D
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127715
Gene: ENSMUSG00000055322
AA Change: A1739D
| 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: A1555D
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000185702
AA Change: A1569D
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187584
AA Change: A1674D
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000140254
Gene: ENSMUSG00000055322
AA Change: A1674D
| 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: ENSMUST00000187691
AA Change: A475D
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139844
Gene: ENSMUSG00000055322
AA Change: A475D
| 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 |
possibly damaging
Transcript: ENSMUST00000191104
AA Change: A1718D
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140317
Gene: ENSMUSG00000055322
AA Change: A1718D
| 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 |
possibly damaging
Transcript: ENSMUST00000212888
AA Change: A1731D
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
G |
7: 131,026,328 (GRCm39) |
L57R |
probably damaging |
Het |
| Bmpr1b |
G |
A |
3: 141,577,146 (GRCm39) |
T55M |
possibly damaging |
Het |
| Cep350 |
G |
A |
1: 155,829,508 (GRCm39) |
T132I |
probably benign |
Het |
| Cops4 |
A |
T |
5: 100,695,280 (GRCm39) |
M400L |
probably benign |
Het |
| Cul1 |
G |
A |
6: 47,500,147 (GRCm39) |
D653N |
probably benign |
Het |
| Cyp3a13 |
C |
G |
5: 137,917,318 (GRCm39) |
L36F |
probably damaging |
Het |
| Dcaf10 |
T |
C |
4: 45,342,558 (GRCm39) |
F131L |
probably benign |
Het |
| Dgkh |
T |
C |
14: 78,861,944 (GRCm39) |
|
probably null |
Het |
| Igll1 |
C |
T |
16: 16,678,921 (GRCm39) |
V130M |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,039,739 (GRCm39) |
|
probably benign |
Het |
| Klra7 |
T |
C |
6: 130,195,921 (GRCm39) |
D262G |
possibly damaging |
Het |
| Lrrc27 |
T |
C |
7: 138,798,251 (GRCm39) |
|
probably benign |
Het |
| Maf |
A |
G |
8: 116,432,531 (GRCm39) |
S358P |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,134,155 (GRCm39) |
D1419G |
possibly damaging |
Het |
| Map3k1 |
G |
A |
13: 111,892,513 (GRCm39) |
A914V |
probably benign |
Het |
| Naa25 |
T |
G |
5: 121,561,755 (GRCm39) |
L436R |
possibly damaging |
Het |
| Ndc1 |
T |
C |
4: 107,240,904 (GRCm39) |
I294T |
probably damaging |
Het |
| Nek1 |
A |
C |
8: 61,469,306 (GRCm39) |
D121A |
probably damaging |
Het |
| Nfil3 |
C |
T |
13: 53,122,746 (GRCm39) |
G53R |
probably benign |
Het |
| Or10h28 |
T |
C |
17: 33,488,310 (GRCm39) |
V204A |
possibly damaging |
Het |
| Parp14 |
A |
T |
16: 35,661,297 (GRCm39) |
Y1550* |
probably null |
Het |
| Patl1 |
A |
G |
19: 11,898,880 (GRCm39) |
I192V |
probably damaging |
Het |
| Pax3 |
G |
A |
1: 78,098,288 (GRCm39) |
T367I |
probably damaging |
Het |
| Pla2g4a |
C |
T |
1: 149,755,814 (GRCm39) |
V208M |
probably damaging |
Het |
| Prdm10 |
A |
T |
9: 31,248,619 (GRCm39) |
K347M |
probably damaging |
Het |
| Prkd1 |
A |
T |
12: 50,439,699 (GRCm39) |
M376K |
probably benign |
Het |
| Prkg1 |
C |
T |
19: 30,872,094 (GRCm39) |
V219I |
possibly damaging |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,295,074 (GRCm39) |
I1550V |
possibly damaging |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Sox4 |
T |
C |
13: 29,136,979 (GRCm39) |
E9G |
probably damaging |
Het |
| Spon1 |
T |
A |
7: 113,628,307 (GRCm39) |
D354E |
probably damaging |
Het |
| Stat2 |
T |
A |
10: 128,119,363 (GRCm39) |
L450H |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,741,790 (GRCm39) |
M849K |
probably damaging |
Het |
| Tmem63c |
G |
A |
12: 87,122,500 (GRCm39) |
D433N |
probably damaging |
Het |
| Tnpo3 |
G |
A |
6: 29,589,032 (GRCm39) |
T106I |
probably damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,849 (GRCm39) |
V467A |
possibly damaging |
Het |
| Trmo |
T |
A |
4: 46,382,568 (GRCm39) |
H183L |
probably benign |
Het |
| Trpm1 |
C |
A |
7: 63,918,710 (GRCm39) |
C683* |
probably null |
Het |
| Vsig10 |
T |
G |
5: 117,476,335 (GRCm39) |
L263R |
probably damaging |
Het |
| Zfp874a |
A |
T |
13: 67,590,812 (GRCm39) |
Y291N |
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 |
|
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'- GTTGACGAAGAGCACATTGC -3'
(R):5'- TATACATGCAGCCCCGACTG -3'
Sequencing Primer
(F):5'- TGGAGCCAGAGAGAGTCAC -3'
(R):5'- GACTGCCAAGACCCACTGTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation