Incidental Mutation 'R0543:Tns1'
ID |
50024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tns1
|
Ensembl Gene |
ENSMUSG00000055322 |
Gene Name |
tensin 1 |
Synonyms |
E030018G17Rik, 1110018I21Rik, E030037J05Rik, 1200014E20Rik, Tns |
MMRRC Submission |
038735-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.565)
|
Stock # |
R0543 (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 73991856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 941
(T941S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148638
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169786]
[ENSMUST00000187584]
[ENSMUST00000191104]
[ENSMUST00000191367]
[ENSMUST00000212888]
|
AlphaFold |
E9Q0S6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000169786
AA Change: T941S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000127715 Gene: ENSMUSG00000055322 AA Change: T941S
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: T771S
|
Predicted Effect |
unknown
Transcript: ENSMUST00000185702
AA Change: T771S
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187584
AA Change: T897S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140254 Gene: ENSMUSG00000055322 AA Change: T897S
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 benign
Transcript: ENSMUST00000191104
AA Change: T941S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140317 Gene: ENSMUSG00000055322 AA Change: T941S
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 benign
Transcript: ENSMUST00000212888
AA Change: T941S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
Meta Mutation Damage Score |
0.0588 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
99% (69/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox5 |
T |
A |
6: 116,431,278 (GRCm39) |
|
probably null |
Het |
Apol9b |
A |
G |
15: 77,619,840 (GRCm39) |
N212S |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,971,085 (GRCm39) |
|
probably null |
Het |
Bltp1 |
G |
A |
3: 37,050,607 (GRCm39) |
S2981N |
probably benign |
Het |
Ccdc180 |
A |
T |
4: 45,900,041 (GRCm39) |
K200* |
probably null |
Het |
Ccser2 |
A |
T |
14: 36,662,149 (GRCm39) |
M345K |
probably benign |
Het |
Cdcp2 |
A |
T |
4: 106,954,873 (GRCm39) |
|
probably null |
Het |
Clca3a1 |
T |
C |
3: 144,454,155 (GRCm39) |
|
probably benign |
Het |
Cntn3 |
G |
A |
6: 102,246,051 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
A |
6: 8,075,326 (GRCm39) |
|
probably benign |
Het |
Dock2 |
A |
G |
11: 34,244,325 (GRCm39) |
F1035S |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,920 (GRCm39) |
S998C |
probably damaging |
Het |
Ecrg4 |
C |
A |
1: 43,781,449 (GRCm39) |
N110K |
possibly damaging |
Het |
Enox1 |
T |
C |
14: 77,744,399 (GRCm39) |
|
probably benign |
Het |
Fgfr3 |
A |
G |
5: 33,887,054 (GRCm39) |
M1V |
probably null |
Het |
Fuca2 |
T |
A |
10: 13,378,870 (GRCm39) |
Y5N |
probably damaging |
Het |
Git2 |
G |
T |
5: 114,883,592 (GRCm39) |
H42Q |
probably damaging |
Het |
Gm7964 |
G |
A |
7: 83,405,602 (GRCm39) |
|
noncoding transcript |
Het |
Hars2 |
G |
A |
18: 36,922,477 (GRCm39) |
E337K |
probably damaging |
Het |
Hells |
A |
G |
19: 38,956,194 (GRCm39) |
R797G |
probably benign |
Het |
Hnf1a |
G |
A |
5: 115,088,803 (GRCm39) |
S571L |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,181,320 (GRCm39) |
Y4C |
probably damaging |
Het |
Inpp4a |
G |
A |
1: 37,408,573 (GRCm39) |
|
probably benign |
Het |
Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,492,709 (GRCm39) |
|
probably benign |
Het |
Itprid2 |
T |
A |
2: 79,474,850 (GRCm39) |
S270T |
possibly damaging |
Het |
Kcnt2 |
C |
A |
1: 140,537,352 (GRCm39) |
P1037T |
probably damaging |
Het |
Lyg2 |
T |
A |
1: 37,950,188 (GRCm39) |
M47L |
possibly damaging |
Het |
Macf1 |
G |
T |
4: 123,270,171 (GRCm39) |
A4648D |
probably damaging |
Het |
Mcf2l |
T |
C |
8: 13,046,728 (GRCm39) |
|
probably null |
Het |
Mcm9 |
C |
T |
10: 53,417,694 (GRCm39) |
R3H |
probably damaging |
Het |
Met |
T |
A |
6: 17,491,969 (GRCm39) |
Y244N |
probably damaging |
Het |
Mettl14 |
A |
T |
3: 123,168,411 (GRCm39) |
C210S |
possibly damaging |
Het |
Mrgpra4 |
T |
C |
7: 47,631,058 (GRCm39) |
Y181C |
probably benign |
Het |
Mtch2 |
T |
C |
2: 90,680,026 (GRCm39) |
V86A |
possibly damaging |
Het |
Mttp |
A |
T |
3: 137,817,457 (GRCm39) |
I446N |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,577,120 (GRCm39) |
S2207T |
unknown |
Het |
Muc5b |
A |
G |
7: 141,405,522 (GRCm39) |
T944A |
unknown |
Het |
Myo15a |
A |
T |
11: 60,369,877 (GRCm39) |
H879L |
probably benign |
Het |
Nherf4 |
A |
C |
9: 44,160,231 (GRCm39) |
H324Q |
probably damaging |
Het |
Nkiras2 |
G |
A |
11: 100,515,018 (GRCm39) |
|
probably benign |
Het |
Nostrin |
T |
G |
2: 69,019,475 (GRCm39) |
*507E |
probably null |
Het |
Nup205 |
T |
C |
6: 35,175,904 (GRCm39) |
V589A |
probably benign |
Het |
Or12j3 |
A |
G |
7: 139,953,307 (GRCm39) |
I72T |
probably benign |
Het |
Or5b21 |
G |
T |
19: 12,839,252 (GRCm39) |
V38F |
probably benign |
Het |
Or5w17 |
C |
A |
2: 87,583,994 (GRCm39) |
L114F |
probably damaging |
Het |
Oxct2b |
T |
A |
4: 123,010,782 (GRCm39) |
M234K |
possibly damaging |
Het |
Pcdha1 |
A |
T |
18: 37,318,121 (GRCm39) |
I945F |
probably damaging |
Het |
Pik3ca |
G |
A |
3: 32,504,410 (GRCm39) |
|
probably null |
Het |
Pkhd1l1 |
A |
G |
15: 44,386,887 (GRCm39) |
|
probably null |
Het |
Plscr1 |
A |
T |
9: 92,140,099 (GRCm39) |
|
probably null |
Het |
Prkn |
G |
A |
17: 11,286,066 (GRCm39) |
D20N |
probably damaging |
Het |
Psd |
T |
C |
19: 46,307,956 (GRCm39) |
E684G |
possibly damaging |
Het |
Rab11fip3 |
T |
C |
17: 26,213,199 (GRCm39) |
E870G |
probably damaging |
Het |
Rpl22l1 |
C |
A |
3: 28,861,423 (GRCm39) |
Y103* |
probably null |
Het |
Semp2l2b |
T |
C |
10: 21,942,823 (GRCm39) |
S386G |
possibly damaging |
Het |
Slc38a4 |
A |
T |
15: 96,914,720 (GRCm39) |
N44K |
possibly damaging |
Het |
Slco6c1 |
T |
A |
1: 97,055,623 (GRCm39) |
I93F |
probably damaging |
Het |
Strip1 |
G |
A |
3: 107,534,091 (GRCm39) |
T181M |
possibly damaging |
Het |
Stxbp5l |
G |
A |
16: 37,028,458 (GRCm39) |
A535V |
probably damaging |
Het |
Tg |
A |
T |
15: 66,601,446 (GRCm39) |
Q152L |
probably benign |
Het |
Thada |
T |
C |
17: 84,730,591 (GRCm39) |
T1036A |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tppp3 |
T |
C |
8: 106,194,840 (GRCm39) |
D97G |
probably benign |
Het |
Trp53bp1 |
C |
A |
2: 121,082,349 (GRCm39) |
A317S |
probably null |
Het |
Trpm7 |
T |
C |
2: 126,690,449 (GRCm39) |
I210V |
probably damaging |
Het |
Ubr1 |
A |
G |
2: 120,711,574 (GRCm39) |
L1440P |
probably damaging |
Het |
Utp18 |
A |
T |
11: 93,766,661 (GRCm39) |
Y317N |
probably damaging |
Het |
Zdhhc5 |
T |
A |
2: 84,522,824 (GRCm39) |
|
probably benign |
Het |
Zfp719 |
A |
G |
7: 43,238,677 (GRCm39) |
|
probably null |
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 |
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 |
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'- GTCTCCAAAGCTGTTACCTGCTACC -3'
(R):5'- GAGATCGAGCAGTCCATCGAAACC -3'
Sequencing Primer
(F):5'- GTTACCTGCTACCCGATGG -3'
(R):5'- AATATGTTGATGCTGGACCTGGAG -3'
|
Posted On |
2013-06-12 |