Incidental Mutation 'R4274:Tns1'
ID |
324683 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tns1
|
Ensembl Gene |
ENSMUSG00000055322 |
Gene Name |
tensin 1 |
Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
MMRRC Submission |
041077-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R4274 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
73949390-74163608 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73967257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 1115
(Y1115F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140254
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000191104]
[ENSMUST00000212888]
[ENSMUST00000187691]
|
AlphaFold |
E9Q0S6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169786
AA Change: Y1180F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127715 Gene: ENSMUSG00000055322 AA Change: Y1180F
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 |
noncoding transcript
Transcript: ENSMUST00000185264
|
Predicted Effect |
unknown
Transcript: ENSMUST00000185331
AA Change: Y997F
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185529
|
Predicted Effect |
unknown
Transcript: ENSMUST00000185702
AA Change: Y1010F
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187584
AA Change: Y1115F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140254 Gene: ENSMUSG00000055322 AA Change: Y1115F
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: Y1159F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140317 Gene: ENSMUSG00000055322 AA Change: Y1159F
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: Y1172F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187691
|
SMART Domains |
Protein: ENSMUSP00000139844 Gene: ENSMUSG00000055322
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 |
noncoding transcript
Transcript: ENSMUST00000191527
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189228
|
Meta Mutation Damage Score |
0.0675 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (55/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,980,930 (GRCm39) |
Y36C |
probably damaging |
Het |
Abcc4 |
T |
C |
14: 118,867,034 (GRCm39) |
R228G |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,926,932 (GRCm39) |
S528T |
probably benign |
Het |
Adamts6 |
T |
A |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
Ano8 |
G |
T |
8: 71,931,385 (GRCm39) |
|
probably benign |
Het |
Ano9 |
T |
G |
7: 140,690,608 (GRCm39) |
Q48P |
probably benign |
Het |
Atp13a1 |
T |
G |
8: 70,257,942 (GRCm39) |
L899R |
probably benign |
Het |
Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
Csn1s1 |
T |
C |
5: 87,828,820 (GRCm39) |
*295R |
probably null |
Het |
Dhx9 |
A |
G |
1: 153,344,672 (GRCm39) |
I505T |
probably damaging |
Het |
Dnajc17 |
A |
T |
2: 119,016,866 (GRCm39) |
S37T |
probably benign |
Het |
Dot1l |
T |
A |
10: 80,619,822 (GRCm39) |
|
probably null |
Het |
Dph7 |
A |
G |
2: 24,853,512 (GRCm39) |
N109S |
possibly damaging |
Het |
Ednra |
C |
T |
8: 78,446,931 (GRCm39) |
G49D |
probably benign |
Het |
Fam83g |
T |
C |
11: 61,592,554 (GRCm39) |
M259T |
probably damaging |
Het |
Fer1l4 |
A |
T |
2: 155,862,464 (GRCm39) |
D1736E |
probably damaging |
Het |
Fetub |
T |
C |
16: 22,754,429 (GRCm39) |
I212T |
probably damaging |
Het |
Foxc2 |
C |
A |
8: 121,844,439 (GRCm39) |
S362R |
probably benign |
Het |
Gm8444 |
A |
G |
15: 81,727,734 (GRCm39) |
|
probably benign |
Het |
Gpank1 |
G |
A |
17: 35,343,245 (GRCm39) |
E242K |
probably benign |
Het |
Hps4 |
G |
A |
5: 112,522,896 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Ighv1-20 |
A |
T |
12: 114,687,819 (GRCm39) |
W3R |
probably damaging |
Het |
Kcnq1 |
T |
C |
7: 142,738,179 (GRCm39) |
I209T |
probably damaging |
Het |
Me3 |
A |
T |
7: 89,455,934 (GRCm39) |
E262V |
probably damaging |
Het |
Mei1 |
G |
A |
15: 82,009,064 (GRCm39) |
R1233Q |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,574 (GRCm39) |
|
noncoding transcript |
Het |
Or4k37 |
A |
T |
2: 111,159,160 (GRCm39) |
Y132F |
probably damaging |
Het |
Or5p6 |
C |
A |
7: 107,630,751 (GRCm39) |
K266N |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,623,364 (GRCm39) |
D70E |
probably damaging |
Het |
Ostm1 |
T |
C |
10: 42,574,230 (GRCm39) |
F153L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,350,751 (GRCm39) |
T532I |
possibly damaging |
Het |
Prpf40a |
G |
A |
2: 53,036,184 (GRCm39) |
H624Y |
probably damaging |
Het |
Rtn2 |
T |
C |
7: 19,021,249 (GRCm39) |
S210P |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,927,734 (GRCm39) |
Q24R |
probably benign |
Het |
Smurf1 |
T |
C |
5: 144,833,585 (GRCm39) |
|
probably benign |
Het |
Ssr1 |
G |
A |
13: 38,169,266 (GRCm39) |
L225F |
possibly damaging |
Het |
Tlr6 |
A |
G |
5: 65,110,981 (GRCm39) |
I642T |
probably benign |
Het |
Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
Tnrc18 |
T |
C |
5: 142,729,405 (GRCm39) |
K1674R |
unknown |
Het |
Trim56 |
T |
A |
5: 137,142,541 (GRCm39) |
E325V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,606,318 (GRCm39) |
T18164A |
possibly damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
Vmn2r125 |
T |
C |
4: 156,702,382 (GRCm39) |
I56T |
probably benign |
Het |
Xkr5 |
T |
A |
8: 18,984,183 (GRCm39) |
H453L |
probably benign |
Het |
Zcchc7 |
C |
T |
4: 44,931,335 (GRCm39) |
H496Y |
possibly damaging |
Het |
Zfp82 |
C |
T |
7: 29,755,792 (GRCm39) |
R430H |
probably damaging |
Het |
Zscan22 |
T |
C |
7: 12,640,251 (GRCm39) |
V6A |
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 |
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'- ACCTGTCAGCACTGAGGATG -3'
(R):5'- AGAGTTCTGAAAGCTCCTTAAAGC -3'
Sequencing Primer
(F):5'- ACTGAGGATGGGGCTGC -3'
(R):5'- TTAAAGCTCGCCTCAGGC -3'
|
Posted On |
2015-06-24 |