Incidental Mutation 'R8745:Tnrc18'
ID |
663484 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnrc18
|
Ensembl Gene |
ENSMUSG00000039477 |
Gene Name |
trinucleotide repeat containing 18 |
Synonyms |
EG381742, Zfp469 |
MMRRC Submission |
068589-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.787)
|
Stock # |
R8745 (G1)
|
Quality Score |
215.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
142710416-142803417 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142773202 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 542
(F542L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114769
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151477]
[ENSMUST00000152247]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000114769 Gene: ENSMUSG00000039477 AA Change: F542L
Domain | Start | End | E-Value | Type |
low complexity region
|
38 |
50 |
N/A |
INTRINSIC |
low complexity region
|
83 |
98 |
N/A |
INTRINSIC |
low complexity region
|
240 |
287 |
N/A |
INTRINSIC |
low complexity region
|
369 |
390 |
N/A |
INTRINSIC |
low complexity region
|
457 |
475 |
N/A |
INTRINSIC |
low complexity region
|
623 |
634 |
N/A |
INTRINSIC |
coiled coil region
|
843 |
876 |
N/A |
INTRINSIC |
low complexity region
|
916 |
930 |
N/A |
INTRINSIC |
low complexity region
|
951 |
970 |
N/A |
INTRINSIC |
low complexity region
|
980 |
993 |
N/A |
INTRINSIC |
low complexity region
|
1093 |
1112 |
N/A |
INTRINSIC |
low complexity region
|
1269 |
1289 |
N/A |
INTRINSIC |
coiled coil region
|
1411 |
1443 |
N/A |
INTRINSIC |
low complexity region
|
1477 |
1493 |
N/A |
INTRINSIC |
low complexity region
|
1581 |
1593 |
N/A |
INTRINSIC |
low complexity region
|
1608 |
1619 |
N/A |
INTRINSIC |
low complexity region
|
1735 |
1752 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000152247
AA Change: F359L
|
SMART Domains |
Protein: ENSMUSP00000117651 Gene: ENSMUSG00000039477 AA Change: F359L
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
104 |
N/A |
INTRINSIC |
low complexity region
|
186 |
207 |
N/A |
INTRINSIC |
low complexity region
|
274 |
292 |
N/A |
INTRINSIC |
low complexity region
|
440 |
451 |
N/A |
INTRINSIC |
coiled coil region
|
660 |
693 |
N/A |
INTRINSIC |
low complexity region
|
733 |
747 |
N/A |
INTRINSIC |
low complexity region
|
768 |
787 |
N/A |
INTRINSIC |
low complexity region
|
797 |
810 |
N/A |
INTRINSIC |
low complexity region
|
910 |
929 |
N/A |
INTRINSIC |
low complexity region
|
1086 |
1106 |
N/A |
INTRINSIC |
coiled coil region
|
1228 |
1260 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1310 |
N/A |
INTRINSIC |
low complexity region
|
1398 |
1410 |
N/A |
INTRINSIC |
low complexity region
|
1425 |
1436 |
N/A |
INTRINSIC |
coiled coil region
|
1570 |
1592 |
N/A |
INTRINSIC |
low complexity region
|
1606 |
1618 |
N/A |
INTRINSIC |
low complexity region
|
1622 |
1640 |
N/A |
INTRINSIC |
low complexity region
|
1641 |
1653 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
A |
G |
19: 20,611,807 (GRCm39) |
N377S |
probably benign |
Het |
Aldh3b3 |
A |
T |
19: 4,014,890 (GRCm39) |
Y129F |
possibly damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Ankrd61 |
G |
A |
5: 143,828,237 (GRCm39) |
S246L |
possibly damaging |
Het |
Ccdc187 |
T |
A |
2: 26,170,526 (GRCm39) |
I651F |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Ceacam13 |
T |
A |
7: 17,743,934 (GRCm39) |
S14T |
probably damaging |
Het |
Cfap58 |
A |
T |
19: 47,929,553 (GRCm39) |
K5* |
probably null |
Het |
Col27a1 |
T |
C |
4: 63,144,153 (GRCm39) |
S614P |
probably benign |
Het |
Crlf3 |
T |
A |
11: 79,955,100 (GRCm39) |
E85D |
probably damaging |
Het |
Dennd2b |
T |
A |
7: 109,156,279 (GRCm39) |
H157L |
probably benign |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,221,624 (GRCm39) |
I1243V |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,999,345 (GRCm39) |
T177A |
probably benign |
Het |
Dytn |
A |
T |
1: 63,686,606 (GRCm39) |
C355S |
probably benign |
Het |
Efcab3 |
C |
T |
11: 104,749,304 (GRCm39) |
T2340M |
possibly damaging |
Het |
Ehbp1 |
T |
C |
11: 22,119,064 (GRCm39) |
N202S |
possibly damaging |
Het |
Exoc3l2 |
T |
C |
7: 19,215,212 (GRCm39) |
I491T |
unknown |
Het |
Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
Fam53a |
A |
T |
5: 33,767,781 (GRCm39) |
I43N |
probably damaging |
Het |
Fis1 |
G |
T |
5: 136,982,365 (GRCm39) |
|
probably benign |
Het |
Fn1 |
T |
C |
1: 71,676,528 (GRCm39) |
T568A |
probably benign |
Het |
Gba1 |
A |
T |
3: 89,115,180 (GRCm39) |
N404I |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,474,949 (GRCm39) |
Y536C |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,972,330 (GRCm39) |
E230V |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,555,986 (GRCm39) |
Q1046R |
probably benign |
Het |
Kctd14 |
G |
A |
7: 97,107,445 (GRCm39) |
W233* |
probably null |
Het |
Krt88 |
T |
C |
15: 101,351,460 (GRCm39) |
S156P |
possibly damaging |
Het |
L3mbtl1 |
C |
A |
2: 162,812,137 (GRCm39) |
H727Q |
probably benign |
Het |
Man1c1 |
T |
C |
4: 134,303,295 (GRCm39) |
K400E |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,452,556 (GRCm39) |
Q482L |
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,893,306 (GRCm39) |
V733A |
probably damaging |
Het |
Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
Map4k3 |
G |
A |
17: 80,944,164 (GRCm39) |
R328C |
possibly damaging |
Het |
Marchf7 |
C |
T |
2: 60,067,153 (GRCm39) |
Q558* |
probably null |
Het |
Mepe |
T |
C |
5: 104,485,525 (GRCm39) |
S222P |
possibly damaging |
Het |
Mfap3l |
A |
T |
8: 61,124,958 (GRCm39) |
N400I |
possibly damaging |
Het |
Myom3 |
T |
C |
4: 135,522,509 (GRCm39) |
|
probably null |
Het |
Nav3 |
T |
C |
10: 109,659,311 (GRCm39) |
T769A |
probably benign |
Het |
Ndufb7 |
T |
A |
8: 84,297,518 (GRCm39) |
Y58N |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,530,463 (GRCm39) |
F445L |
probably benign |
Het |
Or1e20-ps1 |
C |
A |
11: 73,324,848 (GRCm39) |
*68L |
probably null |
Het |
Or4c126 |
T |
A |
2: 89,824,076 (GRCm39) |
M113K |
probably damaging |
Het |
Or4p23 |
T |
C |
2: 88,576,408 (GRCm39) |
I275V |
possibly damaging |
Het |
Ovch2 |
G |
A |
7: 107,389,584 (GRCm39) |
S321F |
possibly damaging |
Het |
Pamr1 |
T |
C |
2: 102,441,924 (GRCm39) |
L171P |
probably damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,828,974 (GRCm39) |
V474A |
possibly damaging |
Het |
Pcgf6 |
A |
G |
19: 47,039,159 (GRCm39) |
S34P |
probably benign |
Het |
Pitrm1 |
C |
T |
13: 6,603,238 (GRCm39) |
P96L |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,931,755 (GRCm39) |
F945L |
probably damaging |
Het |
Ranbp1 |
A |
G |
16: 18,065,244 (GRCm39) |
S21P |
possibly damaging |
Het |
Rasgrp2 |
G |
T |
19: 6,463,949 (GRCm39) |
R549L |
probably damaging |
Het |
Rassf10 |
T |
A |
7: 112,554,083 (GRCm39) |
L228Q |
probably damaging |
Het |
Rho |
A |
T |
6: 115,912,483 (GRCm39) |
I275F |
probably damaging |
Het |
Rrp9 |
T |
C |
9: 106,361,657 (GRCm39) |
V400A |
possibly damaging |
Het |
Satb2 |
A |
G |
1: 57,008,796 (GRCm39) |
L62P |
unknown |
Het |
Scmh1 |
T |
A |
4: 120,362,559 (GRCm39) |
L265* |
probably null |
Het |
Scn7a |
A |
G |
2: 66,510,526 (GRCm39) |
M1292T |
probably benign |
Het |
Serpinb10 |
A |
T |
1: 107,474,542 (GRCm39) |
T235S |
probably benign |
Het |
Serpinb6c |
A |
G |
13: 34,064,702 (GRCm39) |
V214A |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,550,816 (GRCm39) |
I616T |
possibly damaging |
Het |
Shb |
G |
C |
4: 45,458,319 (GRCm39) |
R282G |
probably benign |
Het |
Snx5 |
A |
T |
2: 144,103,932 (GRCm39) |
S22T |
probably benign |
Het |
Spata6 |
T |
C |
4: 111,636,476 (GRCm39) |
F256L |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,805,213 (GRCm39) |
H255R |
probably benign |
Het |
Sva |
T |
A |
6: 42,015,357 (GRCm39) |
M1K |
probably null |
Het |
Tdpoz4 |
A |
T |
3: 93,704,221 (GRCm39) |
T173S |
probably benign |
Het |
Tex9 |
T |
C |
9: 72,389,778 (GRCm39) |
I111V |
probably benign |
Het |
Tigd4 |
A |
G |
3: 84,501,874 (GRCm39) |
I264V |
probably benign |
Het |
Tmem182 |
C |
T |
1: 40,877,536 (GRCm39) |
A137V |
probably damaging |
Het |
Tnfrsf1a |
A |
G |
6: 125,338,745 (GRCm39) |
I385V |
probably damaging |
Het |
Tpbpa |
G |
A |
13: 61,087,778 (GRCm39) |
T86I |
possibly damaging |
Het |
Trappc14 |
A |
G |
5: 138,261,327 (GRCm39) |
|
probably null |
Het |
Ubr5 |
G |
A |
15: 38,025,039 (GRCm39) |
P573L |
|
Het |
Usp54 |
A |
G |
14: 20,612,176 (GRCm39) |
I880T |
probably benign |
Het |
Vmn1r9 |
A |
G |
6: 57,048,767 (GRCm39) |
I281V |
probably benign |
Het |
Zfp456 |
C |
A |
13: 67,515,373 (GRCm39) |
C111F |
possibly damaging |
Het |
|
Other mutations in Tnrc18 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00568:Tnrc18
|
APN |
5 |
142,748,792 (GRCm39) |
missense |
unknown |
|
IGL01732:Tnrc18
|
APN |
5 |
142,757,816 (GRCm39) |
missense |
unknown |
|
IGL01796:Tnrc18
|
APN |
5 |
142,750,642 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01868:Tnrc18
|
APN |
5 |
142,757,567 (GRCm39) |
missense |
unknown |
|
IGL02010:Tnrc18
|
APN |
5 |
142,773,049 (GRCm39) |
missense |
unknown |
|
IGL02566:Tnrc18
|
APN |
5 |
142,758,068 (GRCm39) |
splice site |
probably benign |
|
IGL02688:Tnrc18
|
APN |
5 |
142,775,927 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03052:Tnrc18
|
UTSW |
5 |
142,760,974 (GRCm39) |
missense |
unknown |
|
R0129:Tnrc18
|
UTSW |
5 |
142,750,800 (GRCm39) |
splice site |
probably benign |
|
R0617:Tnrc18
|
UTSW |
5 |
142,762,494 (GRCm39) |
missense |
unknown |
|
R0894:Tnrc18
|
UTSW |
5 |
142,800,869 (GRCm39) |
missense |
probably benign |
0.37 |
R1056:Tnrc18
|
UTSW |
5 |
142,759,614 (GRCm39) |
nonsense |
probably null |
|
R1084:Tnrc18
|
UTSW |
5 |
142,750,522 (GRCm39) |
critical splice donor site |
probably null |
|
R1131:Tnrc18
|
UTSW |
5 |
142,772,963 (GRCm39) |
missense |
unknown |
|
R1411:Tnrc18
|
UTSW |
5 |
142,751,702 (GRCm39) |
missense |
unknown |
|
R1443:Tnrc18
|
UTSW |
5 |
142,757,288 (GRCm39) |
missense |
unknown |
|
R1681:Tnrc18
|
UTSW |
5 |
142,759,572 (GRCm39) |
missense |
unknown |
|
R1698:Tnrc18
|
UTSW |
5 |
142,774,458 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1795:Tnrc18
|
UTSW |
5 |
142,800,869 (GRCm39) |
missense |
probably benign |
0.37 |
R1903:Tnrc18
|
UTSW |
5 |
142,800,895 (GRCm39) |
missense |
probably damaging |
0.99 |
R1930:Tnrc18
|
UTSW |
5 |
142,762,079 (GRCm39) |
missense |
unknown |
|
R1931:Tnrc18
|
UTSW |
5 |
142,762,079 (GRCm39) |
missense |
unknown |
|
R1941:Tnrc18
|
UTSW |
5 |
142,800,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:Tnrc18
|
UTSW |
5 |
142,751,842 (GRCm39) |
missense |
unknown |
|
R2074:Tnrc18
|
UTSW |
5 |
142,745,461 (GRCm39) |
splice site |
probably null |
|
R2089:Tnrc18
|
UTSW |
5 |
142,759,396 (GRCm39) |
missense |
unknown |
|
R2091:Tnrc18
|
UTSW |
5 |
142,759,396 (GRCm39) |
missense |
unknown |
|
R2091:Tnrc18
|
UTSW |
5 |
142,759,396 (GRCm39) |
missense |
unknown |
|
R2182:Tnrc18
|
UTSW |
5 |
142,745,816 (GRCm39) |
missense |
unknown |
|
R2190:Tnrc18
|
UTSW |
5 |
142,761,644 (GRCm39) |
missense |
unknown |
|
R2310:Tnrc18
|
UTSW |
5 |
142,774,308 (GRCm39) |
missense |
probably damaging |
0.96 |
R2372:Tnrc18
|
UTSW |
5 |
142,745,459 (GRCm39) |
splice site |
probably benign |
|
R2445:Tnrc18
|
UTSW |
5 |
142,757,870 (GRCm39) |
missense |
unknown |
|
R3806:Tnrc18
|
UTSW |
5 |
142,773,029 (GRCm39) |
missense |
unknown |
|
R4097:Tnrc18
|
UTSW |
5 |
142,759,561 (GRCm39) |
small deletion |
probably benign |
|
R4153:Tnrc18
|
UTSW |
5 |
142,751,747 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4274:Tnrc18
|
UTSW |
5 |
142,729,405 (GRCm39) |
missense |
unknown |
|
R4520:Tnrc18
|
UTSW |
5 |
142,717,905 (GRCm39) |
missense |
unknown |
|
R4627:Tnrc18
|
UTSW |
5 |
142,725,883 (GRCm39) |
missense |
unknown |
|
R4852:Tnrc18
|
UTSW |
5 |
142,717,095 (GRCm39) |
missense |
probably damaging |
0.98 |
R4873:Tnrc18
|
UTSW |
5 |
142,750,932 (GRCm39) |
missense |
unknown |
|
R4875:Tnrc18
|
UTSW |
5 |
142,750,932 (GRCm39) |
missense |
unknown |
|
R4876:Tnrc18
|
UTSW |
5 |
142,717,380 (GRCm39) |
missense |
unknown |
|
R4936:Tnrc18
|
UTSW |
5 |
142,751,732 (GRCm39) |
nonsense |
probably null |
|
R4942:Tnrc18
|
UTSW |
5 |
142,773,737 (GRCm39) |
missense |
unknown |
|
R4962:Tnrc18
|
UTSW |
5 |
142,725,248 (GRCm39) |
missense |
unknown |
|
R5373:Tnrc18
|
UTSW |
5 |
142,725,911 (GRCm39) |
missense |
unknown |
|
R5374:Tnrc18
|
UTSW |
5 |
142,725,911 (GRCm39) |
missense |
unknown |
|
R5454:Tnrc18
|
UTSW |
5 |
142,757,446 (GRCm39) |
missense |
unknown |
|
R5678:Tnrc18
|
UTSW |
5 |
142,719,319 (GRCm39) |
missense |
unknown |
|
R5826:Tnrc18
|
UTSW |
5 |
142,759,502 (GRCm39) |
missense |
unknown |
|
R5891:Tnrc18
|
UTSW |
5 |
142,800,926 (GRCm39) |
missense |
probably damaging |
0.99 |
R6195:Tnrc18
|
UTSW |
5 |
142,750,928 (GRCm39) |
missense |
unknown |
|
R6296:Tnrc18
|
UTSW |
5 |
142,719,331 (GRCm39) |
missense |
unknown |
|
R6358:Tnrc18
|
UTSW |
5 |
142,713,736 (GRCm39) |
missense |
probably damaging |
0.99 |
R6452:Tnrc18
|
UTSW |
5 |
142,712,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R6498:Tnrc18
|
UTSW |
5 |
142,717,923 (GRCm39) |
missense |
unknown |
|
R6711:Tnrc18
|
UTSW |
5 |
142,773,545 (GRCm39) |
missense |
unknown |
|
R6782:Tnrc18
|
UTSW |
5 |
142,773,063 (GRCm39) |
missense |
unknown |
|
R6863:Tnrc18
|
UTSW |
5 |
142,800,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R6894:Tnrc18
|
UTSW |
5 |
142,745,804 (GRCm39) |
missense |
unknown |
|
R6970:Tnrc18
|
UTSW |
5 |
142,713,744 (GRCm39) |
missense |
probably damaging |
0.99 |
R7053:Tnrc18
|
UTSW |
5 |
142,772,984 (GRCm39) |
missense |
unknown |
|
R7135:Tnrc18
|
UTSW |
5 |
142,773,572 (GRCm39) |
missense |
|
|
R7756:Tnrc18
|
UTSW |
5 |
142,772,907 (GRCm39) |
missense |
|
|
R7902:Tnrc18
|
UTSW |
5 |
142,757,902 (GRCm39) |
missense |
|
|
R8039:Tnrc18
|
UTSW |
5 |
142,717,807 (GRCm39) |
missense |
unknown |
|
R8053:Tnrc18
|
UTSW |
5 |
142,736,385 (GRCm39) |
missense |
unknown |
|
R8322:Tnrc18
|
UTSW |
5 |
142,711,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R8379:Tnrc18
|
UTSW |
5 |
142,774,157 (GRCm39) |
missense |
|
|
R8837:Tnrc18
|
UTSW |
5 |
142,778,811 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8894:Tnrc18
|
UTSW |
5 |
142,725,212 (GRCm39) |
missense |
unknown |
|
R8909:Tnrc18
|
UTSW |
5 |
142,762,131 (GRCm39) |
missense |
|
|
R9030:Tnrc18
|
UTSW |
5 |
142,711,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R9186:Tnrc18
|
UTSW |
5 |
142,773,488 (GRCm39) |
missense |
|
|
R9189:Tnrc18
|
UTSW |
5 |
142,717,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R9192:Tnrc18
|
UTSW |
5 |
142,773,602 (GRCm39) |
missense |
|
|
R9227:Tnrc18
|
UTSW |
5 |
142,773,392 (GRCm39) |
missense |
|
|
R9230:Tnrc18
|
UTSW |
5 |
142,773,392 (GRCm39) |
missense |
|
|
R9582:Tnrc18
|
UTSW |
5 |
142,757,128 (GRCm39) |
missense |
|
|
RF022:Tnrc18
|
UTSW |
5 |
142,759,385 (GRCm39) |
missense |
|
|
Z1177:Tnrc18
|
UTSW |
5 |
142,759,643 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGCGGGTGTCTTACTTC -3'
(R):5'- TTGAACTGGGCAACTTCGC -3'
Sequencing Primer
(F):5'- GGGTGTCTTACTTCGGCTTCC -3'
(R):5'- ACCACGCAGATGGCTGTC -3'
|
Posted On |
2021-03-08 |