Incidental Mutation 'R8077:Tns3'
| ID |
629097 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tns3
|
| Ensembl Gene |
ENSMUSG00000020422 |
| Gene Name |
tensin 3 |
| Synonyms |
F830010I22Rik, Tens1, TEM6 |
| MMRRC Submission |
067511-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.333)
|
| Stock # |
R8077 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
8381652-8614681 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8395667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 1246
(C1246S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020695]
|
| AlphaFold |
Q5SSZ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020695
AA Change: C1246S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020695
Gene: ENSMUSG00000020422
AA Change: C1246S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1d5ra2
|
1 |
171 |
5e-28 |
SMART |
|
PTEN_C2
|
173 |
300 |
1.15e-48 |
SMART |
|
low complexity region
|
854 |
864 |
N/A |
INTRINSIC |
|
low complexity region
|
1102 |
1126 |
N/A |
INTRINSIC |
|
SH2
|
1165 |
1268 |
1.32e-18 |
SMART |
|
PTB
|
1301 |
1438 |
3.14e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.4%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit one third postnatal lethality, reduced body weight, growth retardation, smaller digestive tracts with defects in villi and enterocyte differentiation, abnormal lung morphology, and thinner bones with decreased chondrocyte proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,237 (GRCm39) |
V132E |
probably benign |
Het |
| 4930563M21Rik |
C |
T |
9: 55,895,250 (GRCm39) |
V315M |
probably damaging |
Het |
| Aadacl4fm1 |
T |
C |
4: 144,255,126 (GRCm39) |
I182T |
probably benign |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Amotl1 |
A |
T |
9: 14,461,798 (GRCm39) |
V805D |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,107,881 (GRCm39) |
L179P |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,366,858 (GRCm39) |
L247F |
possibly damaging |
Het |
| Ccdc191 |
T |
C |
16: 43,735,968 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
A |
G |
9: 108,705,530 (GRCm39) |
H671R |
probably benign |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
G |
T |
8: 46,623,482 (GRCm39) |
V291F |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,777,288 (GRCm39) |
V861A |
possibly damaging |
Het |
| Cln8 |
A |
T |
8: 14,944,950 (GRCm39) |
D88V |
probably damaging |
Het |
| Col18a1 |
C |
A |
10: 76,916,685 (GRCm39) |
G330V |
unknown |
Het |
| Dis3 |
C |
T |
14: 99,327,471 (GRCm39) |
R344Q |
probably benign |
Het |
| Esyt2 |
T |
A |
12: 116,305,848 (GRCm39) |
S359R |
possibly damaging |
Het |
| Fbxo41 |
A |
T |
6: 85,450,211 (GRCm39) |
L844Q |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,651,761 (GRCm39) |
T1372M |
probably damaging |
Het |
| Gbp5 |
G |
A |
3: 142,213,500 (GRCm39) |
R472H |
probably benign |
Het |
| Gm4559 |
C |
T |
7: 141,827,553 (GRCm39) |
R183K |
unknown |
Het |
| Gm9507 |
T |
A |
10: 77,647,604 (GRCm39) |
E25V |
unknown |
Het |
| Golgb1 |
A |
G |
16: 36,738,995 (GRCm39) |
I2486V |
probably damaging |
Het |
| Ifitm10 |
A |
T |
7: 141,924,704 (GRCm39) |
V45D |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,823,478 (GRCm39) |
Y595H |
probably benign |
Het |
| Itga8 |
C |
T |
2: 12,247,244 (GRCm39) |
V326I |
probably benign |
Het |
| Kif14 |
A |
T |
1: 136,399,186 (GRCm39) |
H449L |
possibly damaging |
Het |
| Klrh1 |
A |
G |
6: 129,743,658 (GRCm39) |
Y209H |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lrrc8b |
C |
A |
5: 105,627,883 (GRCm39) |
S76R |
possibly damaging |
Het |
| Lrrn1 |
T |
C |
6: 107,545,783 (GRCm39) |
L527P |
probably damaging |
Het |
| Luc7l |
T |
C |
17: 26,474,047 (GRCm39) |
V35A |
probably damaging |
Het |
| Luzp1 |
T |
G |
4: 136,270,402 (GRCm39) |
V875G |
probably damaging |
Het |
| Mcf2l |
G |
T |
8: 13,048,494 (GRCm39) |
|
probably null |
Het |
| Mcoln2 |
T |
C |
3: 145,896,169 (GRCm39) |
M497T |
probably damaging |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,203 (GRCm39) |
S242T |
probably benign |
Het |
| Muc21 |
TCAGTGGTGGTCAGGATGGGGGTAGAGCCTGAGCCACTCCTGGATGCAGTGGTGGTCAGG |
TCAGTGGTGGTCAGG |
17: 35,930,628 (GRCm39) |
|
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,340,734 (GRCm39) |
R1995S |
possibly damaging |
Het |
| Nup35 |
A |
G |
2: 80,469,280 (GRCm39) |
|
probably null |
Het |
| Or13a17 |
C |
T |
7: 140,271,046 (GRCm39) |
S76F |
probably benign |
Het |
| Or2o1 |
A |
G |
11: 49,051,312 (GRCm39) |
D157G |
probably damaging |
Het |
| Or6k2 |
A |
G |
1: 173,979,411 (GRCm39) |
|
probably benign |
Het |
| Prdm12 |
A |
G |
2: 31,532,316 (GRCm39) |
K109E |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,688,626 (GRCm39) |
L444Q |
probably damaging |
Het |
| Qtrt1 |
C |
T |
9: 21,331,392 (GRCm39) |
R374* |
probably null |
Het |
| Rnase11 |
T |
C |
14: 51,287,398 (GRCm39) |
D52G |
probably damaging |
Het |
| Rps6 |
A |
G |
4: 86,774,158 (GRCm39) |
S148P |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,947,044 (GRCm39) |
K86E |
possibly damaging |
Het |
| Sh2d1b2 |
A |
G |
1: 170,075,742 (GRCm39) |
K59E |
possibly damaging |
Het |
| Six6 |
T |
A |
12: 72,987,100 (GRCm39) |
W91R |
probably damaging |
Het |
| Slc23a2 |
C |
A |
2: 131,931,092 (GRCm39) |
A136S |
possibly damaging |
Het |
| Slc9a5 |
G |
A |
8: 106,086,012 (GRCm39) |
R593H |
probably damaging |
Het |
| Smbd1 |
T |
C |
16: 32,630,804 (GRCm39) |
M1V |
probably null |
Het |
| Ssbp4 |
T |
C |
8: 71,051,647 (GRCm39) |
Y239C |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,501,345 (GRCm39) |
E405G |
probably damaging |
Het |
| Tle7 |
C |
T |
8: 110,836,735 (GRCm39) |
T207M |
probably damaging |
Het |
| Tmem192 |
A |
G |
8: 65,418,196 (GRCm39) |
I194V |
probably benign |
Het |
| Ugt1a6a |
A |
T |
1: 88,066,575 (GRCm39) |
Q127L |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,275,025 (GRCm39) |
I1833V |
probably benign |
Het |
| Vmn2r66 |
A |
T |
7: 84,656,093 (GRCm39) |
Y308N |
probably benign |
Het |
| Vti1a |
T |
G |
19: 55,564,917 (GRCm39) |
L191R |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,570,153 (GRCm39) |
N310K |
probably benign |
Het |
|
| Other mutations in Tns3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Tns3
|
APN |
11 |
8,401,066 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL00822:Tns3
|
APN |
11 |
8,393,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01075:Tns3
|
APN |
11 |
8,428,399 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL01286:Tns3
|
APN |
11 |
8,442,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01680:Tns3
|
APN |
11 |
8,498,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01687:Tns3
|
APN |
11 |
8,442,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01734:Tns3
|
APN |
11 |
8,469,192 (GRCm39) |
splice site |
probably benign |
|
|
IGL01844:Tns3
|
APN |
11 |
8,387,177 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01984:Tns3
|
APN |
11 |
8,498,992 (GRCm39) |
nonsense |
probably null |
|
|
IGL02137:Tns3
|
APN |
11 |
8,442,578 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02273:Tns3
|
APN |
11 |
8,384,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02623:Tns3
|
APN |
11 |
8,387,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02697:Tns3
|
APN |
11 |
8,442,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02829:Tns3
|
APN |
11 |
8,469,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU74:Tns3
|
UTSW |
11 |
8,442,149 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0020:Tns3
|
UTSW |
11 |
8,495,227 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0064:Tns3
|
UTSW |
11 |
8,385,856 (GRCm39) |
nonsense |
probably null |
|
|
R0064:Tns3
|
UTSW |
11 |
8,385,856 (GRCm39) |
nonsense |
probably null |
|
|
R0370:Tns3
|
UTSW |
11 |
8,395,730 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0388:Tns3
|
UTSW |
11 |
8,395,703 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0410:Tns3
|
UTSW |
11 |
8,385,852 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0496:Tns3
|
UTSW |
11 |
8,497,262 (GRCm39) |
splice site |
probably benign |
|
|
R0562:Tns3
|
UTSW |
11 |
8,443,262 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0626:Tns3
|
UTSW |
11 |
8,443,121 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0736:Tns3
|
UTSW |
11 |
8,469,474 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0893:Tns3
|
UTSW |
11 |
8,443,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1367:Tns3
|
UTSW |
11 |
8,398,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1386:Tns3
|
UTSW |
11 |
8,468,261 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1975:Tns3
|
UTSW |
11 |
8,385,738 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2205:Tns3
|
UTSW |
11 |
8,481,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2319:Tns3
|
UTSW |
11 |
8,491,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2830:Tns3
|
UTSW |
11 |
8,385,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3720:Tns3
|
UTSW |
11 |
8,442,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3765:Tns3
|
UTSW |
11 |
8,401,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3817:Tns3
|
UTSW |
11 |
8,384,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4058:Tns3
|
UTSW |
11 |
8,442,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4599:Tns3
|
UTSW |
11 |
8,481,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4631:Tns3
|
UTSW |
11 |
8,401,119 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4731:Tns3
|
UTSW |
11 |
8,400,986 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4732:Tns3
|
UTSW |
11 |
8,400,986 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4733:Tns3
|
UTSW |
11 |
8,400,986 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5472:Tns3
|
UTSW |
11 |
8,401,092 (GRCm39) |
missense |
probably benign |
|
|
R5749:Tns3
|
UTSW |
11 |
8,401,177 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5807:Tns3
|
UTSW |
11 |
8,443,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Tns3
|
UTSW |
11 |
8,384,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5942:Tns3
|
UTSW |
11 |
8,385,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Tns3
|
UTSW |
11 |
8,442,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6025:Tns3
|
UTSW |
11 |
8,442,578 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6266:Tns3
|
UTSW |
11 |
8,442,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6322:Tns3
|
UTSW |
11 |
8,442,147 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6536:Tns3
|
UTSW |
11 |
8,384,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Tns3
|
UTSW |
11 |
8,499,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6577:Tns3
|
UTSW |
11 |
8,499,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6864:Tns3
|
UTSW |
11 |
8,443,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Tns3
|
UTSW |
11 |
8,481,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Tns3
|
UTSW |
11 |
8,387,251 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7443:Tns3
|
UTSW |
11 |
8,401,442 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7459:Tns3
|
UTSW |
11 |
8,442,793 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7474:Tns3
|
UTSW |
11 |
8,480,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7576:Tns3
|
UTSW |
11 |
8,491,192 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7979:Tns3
|
UTSW |
11 |
8,442,701 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8055:Tns3
|
UTSW |
11 |
8,495,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Tns3
|
UTSW |
11 |
8,442,773 (GRCm39) |
missense |
probably benign |
|
|
R8518:Tns3
|
UTSW |
11 |
8,442,971 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8523:Tns3
|
UTSW |
11 |
8,398,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Tns3
|
UTSW |
11 |
8,468,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9228:Tns3
|
UTSW |
11 |
8,400,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9374:Tns3
|
UTSW |
11 |
8,442,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Tns3
|
UTSW |
11 |
8,395,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9510:Tns3
|
UTSW |
11 |
8,395,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9594:Tns3
|
UTSW |
11 |
8,401,142 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9595:Tns3
|
UTSW |
11 |
8,401,142 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9596:Tns3
|
UTSW |
11 |
8,401,142 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9624:Tns3
|
UTSW |
11 |
8,401,142 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9629:Tns3
|
UTSW |
11 |
8,401,142 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
T0975:Tns3
|
UTSW |
11 |
8,401,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
T0975:Tns3
|
UTSW |
11 |
8,499,100 (GRCm39) |
start gained |
probably benign |
|
|
T0975:Tns3
|
UTSW |
11 |
8,429,518 (GRCm39) |
missense |
probably benign |
|
|
X0005:Tns3
|
UTSW |
11 |
8,429,518 (GRCm39) |
missense |
probably benign |
|
|
X0005:Tns3
|
UTSW |
11 |
8,401,224 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Tns3
|
UTSW |
11 |
8,401,014 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCCTTCAGCTTATCTTAAAGAC -3'
(R):5'- AGATTTGATATCTGCAGGAGGC -3'
Sequencing Primer
(F):5'- CTTATCTTAAAGACCTCACGTGGCAG -3'
(R):5'- GAGGCAGATATAAAAGCTTGTCTGTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation