Incidental Mutation 'R1540:Tnr'
ID |
171627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnr
|
Ensembl Gene |
ENSMUSG00000015829 |
Gene Name |
tenascin R |
Synonyms |
J1-tenascin, restrictin, janusin, TN-R |
MMRRC Submission |
039579-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1540 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
159351339-159759299 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 159677675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 20
(I20N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111669]
[ENSMUST00000192069]
[ENSMUST00000193325]
|
AlphaFold |
Q8BYI9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111669
AA Change: I20N
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000107298 Gene: ENSMUSG00000015829 AA Change: I20N
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 benign
Transcript: ENSMUST00000192069
AA Change: I20N
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000141553 Gene: ENSMUSG00000015829 AA Change: I20N
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 benign
Transcript: ENSMUST00000192457
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193325
AA Change: I20N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Meta Mutation Damage Score |
0.0642 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
96% (72/75) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,574,384 (GRCm39) |
C767R |
probably benign |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,551,775 (GRCm39) |
I644N |
probably benign |
Het |
Asb16 |
A |
G |
11: 102,163,402 (GRCm39) |
I131V |
probably benign |
Het |
Atp6v0a2 |
C |
A |
5: 124,784,638 (GRCm39) |
A307D |
probably damaging |
Het |
C1qtnf1 |
C |
T |
11: 118,338,749 (GRCm39) |
H140Y |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,347,865 (GRCm39) |
D741V |
probably damaging |
Het |
Caprin2 |
T |
A |
6: 148,777,969 (GRCm39) |
T211S |
probably benign |
Het |
Carmil1 |
T |
C |
13: 24,283,037 (GRCm39) |
E89G |
possibly damaging |
Het |
Casz1 |
T |
A |
4: 149,027,357 (GRCm39) |
|
probably benign |
Het |
Catsperb |
G |
A |
12: 101,378,589 (GRCm39) |
R30Q |
probably benign |
Het |
Ccdc102a |
A |
T |
8: 95,634,341 (GRCm39) |
|
probably null |
Het |
Ccdc110 |
G |
T |
8: 46,395,362 (GRCm39) |
E418* |
probably null |
Het |
Ccdc90b |
C |
T |
7: 92,231,024 (GRCm39) |
A210V |
probably benign |
Het |
Cdadc1 |
G |
T |
14: 59,823,532 (GRCm39) |
A320E |
probably damaging |
Het |
Cdadc1 |
T |
A |
14: 59,823,541 (GRCm39) |
Q317L |
probably damaging |
Het |
Cep170 |
C |
A |
1: 176,567,498 (GRCm39) |
W1396L |
probably damaging |
Het |
Col4a6 |
T |
C |
X: 140,010,854 (GRCm39) |
T129A |
probably damaging |
Het |
Ctcfl |
C |
T |
2: 172,954,141 (GRCm39) |
D319N |
probably benign |
Het |
Dclk1 |
T |
C |
3: 55,385,244 (GRCm39) |
S45P |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,999,726 (GRCm39) |
I5581T |
probably benign |
Het |
Evi2 |
T |
C |
11: 79,406,412 (GRCm39) |
I388V |
probably benign |
Het |
Fbxl5 |
A |
T |
5: 43,915,978 (GRCm39) |
V435E |
possibly damaging |
Het |
Fig4 |
A |
T |
10: 41,064,582 (GRCm39) |
M887K |
possibly damaging |
Het |
Glt8d1 |
G |
A |
14: 30,733,549 (GRCm39) |
V345I |
probably benign |
Het |
Gm5709 |
T |
C |
3: 59,526,073 (GRCm39) |
|
noncoding transcript |
Het |
Hsp90b1 |
A |
G |
10: 86,529,906 (GRCm39) |
F264L |
probably damaging |
Het |
Id3 |
A |
G |
4: 135,871,250 (GRCm39) |
S21G |
possibly damaging |
Het |
Ighe |
T |
A |
12: 113,235,066 (GRCm39) |
N365Y |
unknown |
Het |
Il17rd |
T |
G |
14: 26,821,915 (GRCm39) |
M403R |
probably damaging |
Het |
Ints10 |
A |
G |
8: 69,249,365 (GRCm39) |
|
probably benign |
Het |
Kcnc4 |
T |
A |
3: 107,352,743 (GRCm39) |
|
probably null |
Het |
Kctd19 |
A |
G |
8: 106,114,511 (GRCm39) |
S517P |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,821,944 (GRCm39) |
F2964L |
probably benign |
Het |
Lin54 |
A |
T |
5: 100,628,109 (GRCm39) |
N31K |
probably damaging |
Het |
Lrrc8e |
A |
G |
8: 4,284,990 (GRCm39) |
K405R |
probably benign |
Het |
Lyst |
T |
A |
13: 13,809,686 (GRCm39) |
M452K |
possibly damaging |
Het |
Mroh7 |
A |
G |
4: 106,560,273 (GRCm39) |
L677P |
probably benign |
Het |
Mrps27 |
T |
A |
13: 99,541,558 (GRCm39) |
F221I |
probably benign |
Het |
Nhlrc1 |
C |
T |
13: 47,167,820 (GRCm39) |
V146M |
probably damaging |
Het |
Nlrp9b |
T |
A |
7: 19,782,772 (GRCm39) |
C895* |
probably null |
Het |
Nod1 |
T |
C |
6: 54,920,960 (GRCm39) |
T453A |
probably benign |
Het |
Nodal |
T |
C |
10: 61,258,764 (GRCm39) |
V67A |
probably damaging |
Het |
Ntsr1 |
T |
C |
2: 180,184,440 (GRCm39) |
L381P |
probably damaging |
Het |
Or13c25 |
T |
C |
4: 52,910,996 (GRCm39) |
D266G |
probably benign |
Het |
Or2b2b |
T |
A |
13: 21,858,700 (GRCm39) |
Q138L |
probably benign |
Het |
Or9e1 |
T |
A |
11: 58,732,477 (GRCm39) |
M179K |
probably benign |
Het |
P2ry14 |
T |
A |
3: 59,022,686 (GRCm39) |
K267M |
probably benign |
Het |
Pcdh1 |
T |
C |
18: 38,322,779 (GRCm39) |
N1018S |
probably benign |
Het |
Pkn3 |
G |
A |
2: 29,974,703 (GRCm39) |
V406I |
probably damaging |
Het |
Prkcb |
C |
T |
7: 122,226,916 (GRCm39) |
T634I |
probably damaging |
Het |
Psme2b |
T |
A |
11: 48,836,209 (GRCm39) |
|
probably null |
Het |
Ptgfrn |
A |
G |
3: 100,967,970 (GRCm39) |
I541T |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,307,746 (GRCm39) |
V684A |
probably benign |
Het |
Rbbp5 |
C |
T |
1: 132,422,020 (GRCm39) |
R307* |
probably null |
Het |
Rcor1 |
T |
A |
12: 111,070,037 (GRCm39) |
|
probably benign |
Het |
Rlbp1 |
C |
T |
7: 79,029,808 (GRCm39) |
A142T |
probably damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,560,305 (GRCm39) |
E581G |
probably null |
Het |
Sars1 |
A |
T |
3: 108,340,461 (GRCm39) |
V155E |
probably benign |
Het |
Sec31a |
G |
C |
5: 100,523,178 (GRCm39) |
P569A |
probably damaging |
Het |
Selenof |
A |
T |
3: 144,300,685 (GRCm39) |
K111* |
probably null |
Het |
Serpinb7 |
C |
T |
1: 107,355,998 (GRCm39) |
A7V |
possibly damaging |
Het |
Smc4 |
T |
A |
3: 68,924,105 (GRCm39) |
Y298N |
probably damaging |
Het |
Snrpa1 |
T |
A |
7: 65,720,409 (GRCm39) |
I204N |
probably damaging |
Het |
Spry4 |
T |
G |
18: 38,734,740 (GRCm39) |
|
probably benign |
Het |
Tcea2 |
A |
G |
2: 181,328,751 (GRCm39) |
N261S |
possibly damaging |
Het |
Tmem59l |
A |
G |
8: 70,937,804 (GRCm39) |
F192S |
probably benign |
Het |
Ttll5 |
C |
T |
12: 85,938,982 (GRCm39) |
Q427* |
probably null |
Het |
Vps45 |
C |
T |
3: 95,955,658 (GRCm39) |
A111T |
probably damaging |
Het |
Zfp395 |
T |
C |
14: 65,630,523 (GRCm39) |
S358P |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,210,740 (GRCm39) |
V766A |
probably benign |
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 |
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 |
|
R8930:Tnr
|
UTSW |
1 |
159,740,359 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTAGCTTTACAGAGTGAGAGCCACG -3'
(R):5'- CGGCCAGAGTATCATCTTCAGCAC -3'
Sequencing Primer
(F):5'- AGAGCCACGTTGGCCTG -3'
(R):5'- AGAGTATCATCTTCAGCACTCATGTC -3'
|
Posted On |
2014-04-13 |