Incidental Mutation 'R5374:Tnrc18'
| ID |
478252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc18
|
| Ensembl Gene |
ENSMUSG00000039477 |
| Gene Name |
trinucleotide repeat containing 18 |
| Synonyms |
EG381742, Zfp469 |
| MMRRC Submission |
042950-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R5374 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
142710416-142803417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142725911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1793
(R1793C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000152247]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000152247
AA Change: R1793C
|
| SMART Domains |
Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: R1793C
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198932
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (81/84) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,773,396 (GRCm39) |
S862G |
probably benign |
Het |
| Adgrf1 |
G |
A |
17: 43,601,896 (GRCm39) |
|
probably benign |
Het |
| Adss2 |
T |
G |
1: 177,623,954 (GRCm39) |
I3L |
probably benign |
Het |
| Anapc7 |
T |
A |
5: 122,576,280 (GRCm39) |
D302E |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,789,306 (GRCm39) |
|
probably null |
Het |
| Astn2 |
A |
C |
4: 65,315,242 (GRCm39) |
V1145G |
probably damaging |
Het |
| Babam2 |
C |
T |
5: 32,164,574 (GRCm39) |
|
probably benign |
Het |
| Blvrb |
A |
G |
7: 27,165,271 (GRCm39) |
H238R |
possibly damaging |
Het |
| Cacna1b |
C |
T |
2: 24,596,228 (GRCm39) |
V488I |
probably damaging |
Het |
| Ccdc88a |
C |
T |
11: 29,413,409 (GRCm39) |
T649M |
possibly damaging |
Het |
| Cdh12 |
A |
C |
15: 21,583,998 (GRCm39) |
S613R |
probably damaging |
Het |
| Cisd2 |
A |
G |
3: 135,114,596 (GRCm39) |
V125A |
probably benign |
Het |
| Clcn2 |
C |
A |
16: 20,528,419 (GRCm39) |
G478W |
possibly damaging |
Het |
| Cntnap2 |
T |
A |
6: 47,084,903 (GRCm39) |
H1121Q |
probably benign |
Het |
| Corin |
A |
T |
5: 72,462,296 (GRCm39) |
C876S |
probably damaging |
Het |
| Cox7c |
T |
C |
13: 86,194,739 (GRCm39) |
Y19C |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,300,287 (GRCm39) |
V3198A |
unknown |
Het |
| Cspp1 |
T |
G |
1: 10,204,351 (GRCm39) |
L1038R |
probably damaging |
Het |
| Cwc15 |
A |
G |
9: 14,416,234 (GRCm39) |
K147E |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,873,614 (GRCm39) |
D739G |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,276,473 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,043,205 (GRCm39) |
V864A |
possibly damaging |
Het |
| Dock7 |
A |
G |
4: 98,877,275 (GRCm39) |
F1088L |
possibly damaging |
Het |
| Dpysl3 |
T |
C |
18: 43,494,101 (GRCm39) |
Y193C |
probably damaging |
Het |
| Dtna |
T |
C |
18: 23,784,670 (GRCm39) |
Y730H |
probably damaging |
Het |
| Dusp3 |
A |
G |
11: 101,875,451 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,843,277 (GRCm39) |
I151N |
probably damaging |
Het |
| Entpd2 |
C |
T |
2: 25,289,738 (GRCm39) |
T380I |
probably damaging |
Het |
| Epb41l3 |
C |
A |
17: 69,593,795 (GRCm39) |
H810N |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,353,698 (GRCm39) |
T348A |
probably benign |
Het |
| Ginm1 |
A |
G |
10: 7,655,078 (GRCm39) |
S55P |
probably damaging |
Het |
| Glt1d1 |
C |
A |
5: 127,734,148 (GRCm39) |
|
probably null |
Het |
| Gm15433 |
T |
A |
1: 84,941,833 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8221 |
A |
G |
15: 77,510,352 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1c |
A |
G |
16: 43,803,604 (GRCm39) |
V603A |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,956,186 (GRCm39) |
S33P |
probably benign |
Het |
| Gstp3 |
T |
C |
19: 4,107,922 (GRCm39) |
N137S |
possibly damaging |
Het |
| Kdm5d |
C |
T |
Y: 927,995 (GRCm39) |
P756S |
probably benign |
Het |
| Ly75 |
A |
T |
2: 60,142,115 (GRCm39) |
L1332M |
possibly damaging |
Het |
| Med1 |
T |
A |
11: 98,054,789 (GRCm39) |
K378N |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,569,752 (GRCm39) |
|
probably null |
Het |
| Mpo |
T |
C |
11: 87,694,437 (GRCm39) |
|
probably null |
Het |
| Nom1 |
C |
G |
5: 29,646,377 (GRCm39) |
R555G |
probably damaging |
Het |
| Nsmce4a |
C |
T |
7: 130,139,900 (GRCm39) |
R276Q |
probably benign |
Het |
| Nt5c |
G |
A |
11: 115,381,643 (GRCm39) |
|
probably null |
Het |
| Olfr908 |
CACAACAACA |
CACAACA |
9: 38,427,434 (GRCm39) |
|
probably benign |
Het |
| Or52e18 |
G |
T |
7: 104,609,203 (GRCm39) |
H245Q |
probably damaging |
Het |
| Or5p52 |
T |
C |
7: 107,502,698 (GRCm39) |
I258T |
possibly damaging |
Het |
| Pcdhga4 |
T |
C |
18: 37,818,649 (GRCm39) |
V66A |
probably damaging |
Het |
| Pik3c3 |
T |
C |
18: 30,445,614 (GRCm39) |
S534P |
probably benign |
Het |
| Pla2g4e |
A |
T |
2: 120,016,876 (GRCm39) |
C222S |
probably benign |
Het |
| Plch1 |
A |
C |
3: 63,605,499 (GRCm39) |
H1468Q |
probably benign |
Het |
| Psd2 |
T |
A |
18: 36,140,556 (GRCm39) |
W610R |
probably damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,141,198 (GRCm39) |
K548N |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,007,354 (GRCm39) |
V1639E |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,590,695 (GRCm39) |
S466T |
probably benign |
Het |
| Rgsl1 |
C |
T |
1: 153,666,053 (GRCm39) |
V986I |
probably benign |
Het |
| Rhobtb3 |
T |
C |
13: 76,027,014 (GRCm39) |
Y453C |
probably damaging |
Het |
| Rspry1 |
T |
C |
8: 95,349,636 (GRCm39) |
V8A |
probably benign |
Het |
| Rspry1 |
C |
A |
8: 95,380,892 (GRCm39) |
R399S |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,993,725 (GRCm39) |
T596A |
probably benign |
Het |
| Sap18b |
G |
A |
8: 96,551,998 (GRCm39) |
A3T |
unknown |
Het |
| Serpina3j |
A |
G |
12: 104,280,986 (GRCm39) |
D53G |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,155,386 (GRCm39) |
D381E |
possibly damaging |
Het |
| Slirp |
T |
C |
12: 87,496,192 (GRCm39) |
S96P |
possibly damaging |
Het |
| Snx6 |
T |
C |
12: 54,817,513 (GRCm39) |
E128G |
probably damaging |
Het |
| Stap1 |
A |
G |
5: 86,238,787 (GRCm39) |
T152A |
possibly damaging |
Het |
| Tcf20 |
A |
T |
15: 82,736,158 (GRCm39) |
N1764K |
probably damaging |
Het |
| Thap2 |
A |
T |
10: 115,208,744 (GRCm39) |
Y125* |
probably null |
Het |
| Ticrr |
T |
G |
7: 79,340,690 (GRCm39) |
Y1031* |
probably null |
Het |
| Trpm3 |
C |
T |
19: 22,903,548 (GRCm39) |
R945* |
probably null |
Het |
| Ugt1a10 |
T |
A |
1: 87,983,632 (GRCm39) |
D143E |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,487,403 (GRCm39) |
T3057M |
probably benign |
Het |
| Zc3h6 |
A |
T |
2: 128,844,076 (GRCm39) |
I207F |
possibly damaging |
Het |
| Zfp518a |
T |
C |
19: 40,901,954 (GRCm39) |
S628P |
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,803,462 (GRCm39) |
N541D |
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 |
|
|
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 |
|
|
|
R8745:Tnrc18
|
UTSW |
5 |
142,773,202 (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 |
|
| Posted On |
2017-05-30 |
Incidental Mutation