Incidental Mutation 'R8930:Tnr'
| ID |
680223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnr
|
| Ensembl Gene |
ENSMUSG00000015829 |
| Gene Name |
tenascin R |
| Synonyms |
J1-tenascin, restrictin, janusin, TN-R |
| MMRRC Submission |
068774-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8930 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
159351339-159759299 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 159740359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1178
(I1178F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111669]
[ENSMUST00000192069]
|
| AlphaFold |
Q8BYI9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111669
AA Change: I1178F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: I1178F
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_like
|
203 |
231 |
3.87e1 |
SMART |
|
EGF_like
|
234 |
262 |
3.16e1 |
SMART |
|
EGF_like
|
265 |
293 |
2.8e1 |
SMART |
|
EGF
|
296 |
324 |
2.43e1 |
SMART |
|
FN3
|
326 |
404 |
4.77e-8 |
SMART |
|
FN3
|
415 |
493 |
3.1e-7 |
SMART |
|
FN3
|
504 |
583 |
2.01e-6 |
SMART |
|
FN3
|
594 |
675 |
1.98e-5 |
SMART |
|
FN3
|
686 |
763 |
3.29e-11 |
SMART |
|
FN3
|
774 |
851 |
3.32e-7 |
SMART |
|
FN3
|
864 |
942 |
3.73e-10 |
SMART |
|
FN3
|
953 |
1031 |
2.28e-5 |
SMART |
|
FN3
|
1041 |
1118 |
8.56e-10 |
SMART |
|
FBG
|
1133 |
1343 |
2.69e-133 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192069
AA Change: I1178F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: I1178F
| Domain | Start | End | E-Value | Type |
|---|
|
EGF_like
|
203 |
231 |
3.87e1 |
SMART |
|
EGF_like
|
234 |
262 |
3.16e1 |
SMART |
|
EGF_like
|
265 |
293 |
2.8e1 |
SMART |
|
EGF
|
296 |
324 |
2.43e1 |
SMART |
|
FN3
|
326 |
404 |
4.77e-8 |
SMART |
|
FN3
|
415 |
493 |
3.1e-7 |
SMART |
|
FN3
|
504 |
583 |
2.01e-6 |
SMART |
|
FN3
|
594 |
675 |
1.98e-5 |
SMART |
|
FN3
|
686 |
763 |
3.29e-11 |
SMART |
|
FN3
|
774 |
851 |
3.32e-7 |
SMART |
|
FN3
|
864 |
942 |
3.73e-10 |
SMART |
|
FN3
|
953 |
1031 |
2.28e-5 |
SMART |
|
FN3
|
1041 |
1118 |
8.56e-10 |
SMART |
|
FBG
|
1133 |
1343 |
2.69e-133 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (64/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]
PHENOTYPE: In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,629,693 (GRCm39) |
|
probably null |
Het |
| Abl2 |
A |
G |
1: 156,461,402 (GRCm39) |
T435A |
probably damaging |
Het |
| Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
| Ankrd11 |
C |
T |
8: 123,622,718 (GRCm39) |
R378K |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
| Ass1 |
T |
A |
2: 31,382,387 (GRCm39) |
M186K |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,507,182 (GRCm39) |
D312G |
probably benign |
Het |
| Btg3 |
T |
A |
16: 78,170,298 (GRCm39) |
N3I |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,294,882 (GRCm39) |
F649L |
probably damaging |
Het |
| Cdh1 |
ACTCGAAATGATGTGGCTC |
ACTC |
8: 107,392,870 (GRCm39) |
|
probably benign |
Het |
| Cnksr3 |
A |
T |
10: 7,110,780 (GRCm39) |
V27E |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,580,665 (GRCm39) |
S1512T |
probably benign |
Het |
| Cstf1 |
A |
G |
2: 172,217,623 (GRCm39) |
T79A |
probably benign |
Het |
| Defa24 |
T |
C |
8: 22,225,373 (GRCm39) |
Y88H |
probably benign |
Het |
| Dgkz |
C |
T |
2: 91,769,915 (GRCm39) |
R389Q |
probably damaging |
Het |
| Dsg3 |
T |
A |
18: 20,672,718 (GRCm39) |
D796E |
probably damaging |
Het |
| Dyrk3 |
G |
T |
1: 131,057,293 (GRCm39) |
D293E |
probably damaging |
Het |
| Epb42 |
T |
C |
2: 120,854,767 (GRCm39) |
D606G |
probably benign |
Het |
| Erich5 |
G |
A |
15: 34,453,844 (GRCm39) |
G18S |
probably benign |
Het |
| Fam8a1 |
C |
T |
13: 46,827,868 (GRCm39) |
T352M |
probably benign |
Het |
| Fastkd3 |
T |
A |
13: 68,731,835 (GRCm39) |
L52Q |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,910,819 (GRCm39) |
H1728Y |
probably benign |
Het |
| Fgl1 |
A |
G |
8: 41,662,868 (GRCm39) |
V39A |
probably benign |
Het |
| Gm7298 |
T |
C |
6: 121,742,030 (GRCm39) |
V484A |
probably benign |
Het |
| Gpr75 |
A |
G |
11: 30,842,571 (GRCm39) |
Q492R |
possibly damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,899,318 (GRCm39) |
H36R |
possibly damaging |
Het |
| Insyn2a |
A |
G |
7: 134,500,881 (GRCm39) |
I408T |
probably damaging |
Het |
| Insyn2b |
T |
C |
11: 34,352,707 (GRCm39) |
S250P |
probably benign |
Het |
| Isy1 |
T |
C |
6: 87,798,513 (GRCm39) |
I214V |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,544,010 (GRCm39) |
P853L |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,822,022 (GRCm39) |
T746A |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,234,377 (GRCm39) |
|
probably benign |
Het |
| Mki67 |
A |
G |
7: 135,300,628 (GRCm39) |
S1469P |
possibly damaging |
Het |
| Mrps30 |
C |
T |
13: 118,523,695 (GRCm39) |
A26T |
probably benign |
Het |
| Mup10 |
T |
A |
4: 60,536,708 (GRCm39) |
T92S |
possibly damaging |
Het |
| Otud7a |
A |
G |
7: 63,407,239 (GRCm39) |
D514G |
possibly damaging |
Het |
| Pacs1 |
T |
A |
19: 5,185,030 (GRCm39) |
S932C |
probably damaging |
Het |
| Pbx2 |
C |
T |
17: 34,813,563 (GRCm39) |
R188C |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,762,989 (GRCm39) |
P536S |
possibly damaging |
Het |
| Pdxdc1 |
A |
T |
16: 13,672,269 (GRCm39) |
I377N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phip |
T |
C |
9: 82,789,041 (GRCm39) |
K758E |
possibly damaging |
Het |
| Pramel34 |
T |
G |
5: 93,785,944 (GRCm39) |
D112A |
probably benign |
Het |
| Ptprm |
C |
T |
17: 67,263,846 (GRCm39) |
R467H |
probably benign |
Het |
| Scnn1b |
C |
T |
7: 121,502,067 (GRCm39) |
R242C |
probably damaging |
Het |
| Seh1l |
T |
C |
18: 67,908,134 (GRCm39) |
S19P |
possibly damaging |
Het |
| Slc28a1 |
T |
A |
7: 80,817,715 (GRCm39) |
V528D |
probably benign |
Het |
| Slc6a17 |
G |
T |
3: 107,379,507 (GRCm39) |
Q554K |
probably benign |
Het |
| Spag16 |
G |
A |
1: 70,338,928 (GRCm39) |
|
probably null |
Het |
| Spata31d1e |
C |
T |
13: 59,890,015 (GRCm39) |
E184K |
possibly damaging |
Het |
| Srfbp1 |
T |
A |
18: 52,623,117 (GRCm39) |
N377K |
possibly damaging |
Het |
| Stap2 |
A |
G |
17: 56,304,895 (GRCm39) |
S296P |
probably benign |
Het |
| Tomt |
C |
T |
7: 101,550,350 (GRCm39) |
A139T |
probably damaging |
Het |
| Trak2 |
T |
C |
1: 58,974,967 (GRCm39) |
Q75R |
probably benign |
Het |
| Tulp1 |
T |
C |
17: 28,583,468 (GRCm39) |
K58E |
probably benign |
Het |
| Utp6 |
A |
G |
11: 79,834,055 (GRCm39) |
|
probably null |
Het |
| Vmn1r21 |
T |
C |
6: 57,820,998 (GRCm39) |
T149A |
probably benign |
Het |
| Vmn1r238 |
C |
T |
18: 3,123,127 (GRCm39) |
V96M |
probably benign |
Het |
| Vmn1r9 |
T |
A |
6: 57,048,666 (GRCm39) |
I247N |
probably damaging |
Het |
| Vps33b |
T |
C |
7: 79,932,241 (GRCm39) |
C138R |
possibly damaging |
Het |
| Wnk1 |
A |
T |
6: 119,940,226 (GRCm39) |
V837E |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,312,707 (GRCm39) |
H59Y |
possibly damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,568,434 (GRCm39) |
D883E |
probably benign |
Het |
| Zbtb7a |
C |
A |
10: 80,980,368 (GRCm39) |
D187E |
probably benign |
Het |
| Zfp511 |
T |
C |
7: 139,617,442 (GRCm39) |
V148A |
probably damaging |
Het |
| Zfp52 |
A |
G |
17: 21,780,692 (GRCm39) |
D180G |
possibly damaging |
Het |
|
| Other mutations in Tnr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00432:Tnr
|
APN |
1 |
159,688,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00905:Tnr
|
APN |
1 |
159,679,752 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01396:Tnr
|
APN |
1 |
159,724,594 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01550:Tnr
|
APN |
1 |
159,701,828 (GRCm39) |
missense |
probably benign |
|
|
IGL01803:Tnr
|
APN |
1 |
159,695,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01845:Tnr
|
APN |
1 |
159,695,576 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01983:Tnr
|
APN |
1 |
159,691,349 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01985:Tnr
|
APN |
1 |
159,746,607 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02210:Tnr
|
APN |
1 |
159,679,671 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02486:Tnr
|
APN |
1 |
159,679,664 (GRCm39) |
splice site |
probably null |
|
|
IGL03210:Tnr
|
APN |
1 |
159,715,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
Assiduous
|
UTSW |
1 |
159,719,593 (GRCm39) |
missense |
probably benign |
|
|
Grip
|
UTSW |
1 |
159,713,680 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
Persistent
|
UTSW |
1 |
159,679,856 (GRCm39) |
missense |
probably benign |
|
|
Tenacious
|
UTSW |
1 |
159,701,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0002:Tnr
|
UTSW |
1 |
159,701,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0002:Tnr
|
UTSW |
1 |
159,701,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Tnr
|
UTSW |
1 |
159,679,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0042:Tnr
|
UTSW |
1 |
159,714,595 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0594:Tnr
|
UTSW |
1 |
159,677,905 (GRCm39) |
missense |
probably benign |
|
|
R0617:Tnr
|
UTSW |
1 |
159,695,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0637:Tnr
|
UTSW |
1 |
159,677,905 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0682:Tnr
|
UTSW |
1 |
159,679,877 (GRCm39) |
nonsense |
probably null |
|
|
R1171:Tnr
|
UTSW |
1 |
159,685,780 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1185:Tnr
|
UTSW |
1 |
159,679,856 (GRCm39) |
missense |
probably benign |
|
|
R1185:Tnr
|
UTSW |
1 |
159,679,856 (GRCm39) |
missense |
probably benign |
|
|
R1185:Tnr
|
UTSW |
1 |
159,679,856 (GRCm39) |
missense |
probably benign |
|
|
R1335:Tnr
|
UTSW |
1 |
159,695,600 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1540:Tnr
|
UTSW |
1 |
159,677,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1697:Tnr
|
UTSW |
1 |
159,679,600 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1938:Tnr
|
UTSW |
1 |
159,722,607 (GRCm39) |
nonsense |
probably null |
|
|
R1941:Tnr
|
UTSW |
1 |
159,677,704 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2021:Tnr
|
UTSW |
1 |
159,679,592 (GRCm39) |
missense |
probably benign |
|
|
R2022:Tnr
|
UTSW |
1 |
159,679,592 (GRCm39) |
missense |
probably benign |
|
|
R2051:Tnr
|
UTSW |
1 |
159,719,603 (GRCm39) |
missense |
probably benign |
|
|
R2157:Tnr
|
UTSW |
1 |
159,685,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2319:Tnr
|
UTSW |
1 |
159,677,618 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R2936:Tnr
|
UTSW |
1 |
159,715,932 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3015:Tnr
|
UTSW |
1 |
159,715,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3417:Tnr
|
UTSW |
1 |
159,722,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3739:Tnr
|
UTSW |
1 |
159,750,983 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R3977:Tnr
|
UTSW |
1 |
159,719,593 (GRCm39) |
missense |
probably benign |
|
|
R4232:Tnr
|
UTSW |
1 |
159,713,785 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4478:Tnr
|
UTSW |
1 |
159,712,326 (GRCm39) |
splice site |
probably null |
|
|
R4774:Tnr
|
UTSW |
1 |
159,724,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Tnr
|
UTSW |
1 |
159,685,974 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4837:Tnr
|
UTSW |
1 |
159,512,358 (GRCm39) |
intron |
probably benign |
|
|
R5111:Tnr
|
UTSW |
1 |
159,713,798 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5224:Tnr
|
UTSW |
1 |
159,750,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5249:Tnr
|
UTSW |
1 |
159,512,226 (GRCm39) |
intron |
probably benign |
|
|
R5730:Tnr
|
UTSW |
1 |
159,715,892 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5807:Tnr
|
UTSW |
1 |
159,714,500 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5832:Tnr
|
UTSW |
1 |
159,713,692 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5927:Tnr
|
UTSW |
1 |
159,740,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6049:Tnr
|
UTSW |
1 |
159,740,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6056:Tnr
|
UTSW |
1 |
159,714,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6063:Tnr
|
UTSW |
1 |
159,740,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6141:Tnr
|
UTSW |
1 |
159,714,692 (GRCm39) |
missense |
probably benign |
|
|
R6218:Tnr
|
UTSW |
1 |
159,715,884 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6275:Tnr
|
UTSW |
1 |
159,688,840 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6543:Tnr
|
UTSW |
1 |
159,751,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6626:Tnr
|
UTSW |
1 |
159,677,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Tnr
|
UTSW |
1 |
159,712,432 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7587:Tnr
|
UTSW |
1 |
159,713,778 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7766:Tnr
|
UTSW |
1 |
159,715,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8140:Tnr
|
UTSW |
1 |
159,691,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8215:Tnr
|
UTSW |
1 |
159,715,860 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8248:Tnr
|
UTSW |
1 |
159,719,663 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8374:Tnr
|
UTSW |
1 |
159,685,953 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8427:Tnr
|
UTSW |
1 |
159,713,801 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8465:Tnr
|
UTSW |
1 |
159,713,645 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8534:Tnr
|
UTSW |
1 |
159,746,585 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8753:Tnr
|
UTSW |
1 |
159,677,936 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8804:Tnr
|
UTSW |
1 |
159,685,882 (GRCm39) |
missense |
probably benign |
|
|
R8857:Tnr
|
UTSW |
1 |
159,713,728 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8917:Tnr
|
UTSW |
1 |
159,701,692 (GRCm39) |
nonsense |
probably null |
|
|
R8932:Tnr
|
UTSW |
1 |
159,740,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Tnr
|
UTSW |
1 |
159,685,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9096:Tnr
|
UTSW |
1 |
159,677,804 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9127:Tnr
|
UTSW |
1 |
159,713,680 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9205:Tnr
|
UTSW |
1 |
159,722,617 (GRCm39) |
missense |
probably benign |
|
|
R9311:Tnr
|
UTSW |
1 |
159,677,663 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9679:Tnr
|
UTSW |
1 |
159,719,608 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0011:Tnr
|
UTSW |
1 |
159,716,908 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0028:Tnr
|
UTSW |
1 |
159,701,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Tnr
|
UTSW |
1 |
159,722,665 (GRCm39) |
missense |
probably benign |
0.29 |
|
Z1177:Tnr
|
UTSW |
1 |
159,679,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGGTTCCTGTGCATAATGG -3'
(R):5'- CTGTTTGTGAGTGGCCTACT -3'
Sequencing Primer
(F):5'- CAAGGTATTTGCTGCCCAAG -3'
(R):5'- CCTACTGAATGAGGGTCTTGAAGGC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation