Incidental Mutation 'R6970:Tnrc18'
| ID |
542177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc18
|
| Ensembl Gene |
ENSMUSG00000039477 |
| Gene Name |
trinucleotide repeat containing 18 |
| Synonyms |
EG381742, Zfp469 |
| MMRRC Submission |
045080-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R6970 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
142710416-142803417 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 142713744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 2531
(V2531A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117651
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000152247]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152247
AA Change: V2531A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: V2531A
| 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: 97.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
T |
C |
7: 131,036,044 (GRCm39) |
Y285H |
possibly damaging |
Het |
| Adam17 |
A |
G |
12: 21,395,669 (GRCm39) |
S285P |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,384,485 (GRCm39) |
N1082S |
probably benign |
Het |
| Ahdc1 |
T |
A |
4: 132,789,656 (GRCm39) |
L299Q |
possibly damaging |
Het |
| Ambra1 |
T |
A |
2: 91,602,945 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,223,903 (GRCm39) |
Q1465R |
probably damaging |
Het |
| Arfgef1 |
G |
T |
1: 10,223,904 (GRCm39) |
Q1465K |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,895,805 (GRCm39) |
V543A |
probably damaging |
Het |
| BC034090 |
T |
A |
1: 155,117,185 (GRCm39) |
D311V |
probably damaging |
Het |
| Blnk |
G |
T |
19: 40,950,821 (GRCm39) |
P110Q |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,875,927 (GRCm39) |
E968G |
probably damaging |
Het |
| Ccdc14 |
A |
T |
16: 34,529,903 (GRCm39) |
E394V |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,491,954 (GRCm39) |
H1086Q |
probably benign |
Het |
| Ccdc85b |
T |
A |
19: 5,507,248 (GRCm39) |
I60F |
probably damaging |
Het |
| Ceacam20 |
T |
A |
7: 19,723,902 (GRCm39) |
L562Q |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,008,149 (GRCm39) |
F188L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,217,032 (GRCm39) |
V750A |
probably benign |
Het |
| Dclk1 |
A |
T |
3: 55,374,022 (GRCm39) |
|
probably benign |
Het |
| Ddx20 |
A |
T |
3: 105,587,674 (GRCm39) |
L434H |
probably damaging |
Het |
| Ddx51 |
G |
A |
5: 110,804,728 (GRCm39) |
V547M |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,072,679 (GRCm39) |
Q1472L |
probably benign |
Het |
| Dnajb13 |
T |
C |
7: 100,156,629 (GRCm39) |
E149G |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,667,182 (GRCm39) |
E1422G |
probably benign |
Het |
| Eif1ad8 |
G |
T |
12: 87,563,388 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,035,924 (GRCm39) |
N3192S |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 39,050,120 (GRCm39) |
D3994V |
probably damaging |
Het |
| Fcgr1 |
C |
A |
3: 96,191,936 (GRCm39) |
|
probably null |
Het |
| Gm12185 |
G |
A |
11: 48,798,739 (GRCm39) |
R585* |
probably null |
Het |
| Gm32687 |
A |
G |
10: 81,715,304 (GRCm39) |
H232R |
probably benign |
Het |
| Gm5431 |
G |
T |
11: 48,779,317 (GRCm39) |
A535D |
probably damaging |
Het |
| Jarid2 |
C |
T |
13: 45,056,461 (GRCm39) |
P556S |
probably damaging |
Het |
| Map3k4 |
C |
A |
17: 12,467,803 (GRCm39) |
G1077V |
probably damaging |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mlxip |
A |
G |
5: 123,583,735 (GRCm39) |
T433A |
possibly damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,089,678 (GRCm39) |
|
probably null |
Het |
| Mus81 |
G |
T |
19: 5,535,554 (GRCm39) |
H199Q |
probably benign |
Het |
| Mylk3 |
G |
A |
8: 86,085,892 (GRCm39) |
T54M |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,551,506 (GRCm39) |
F1034L |
possibly damaging |
Het |
| Nfatc1 |
A |
C |
18: 80,710,228 (GRCm39) |
S513A |
probably benign |
Het |
| Ninj2 |
A |
G |
6: 120,175,092 (GRCm39) |
I88V |
possibly damaging |
Het |
| Nomo1 |
C |
T |
7: 45,695,391 (GRCm39) |
P277L |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,941,810 (GRCm39) |
S571L |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,918,009 (GRCm39) |
M79L |
probably benign |
Het |
| Or5b3 |
T |
A |
19: 13,388,792 (GRCm39) |
N286K |
probably damaging |
Het |
| Or9a7 |
T |
C |
6: 40,521,590 (GRCm39) |
S108G |
probably benign |
Het |
| Pcdh15 |
C |
T |
10: 74,338,519 (GRCm39) |
P1005S |
probably damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,375,070 (GRCm39) |
A942T |
possibly damaging |
Het |
| Plagl1 |
T |
C |
10: 13,000,860 (GRCm39) |
C34R |
probably damaging |
Het |
| Plekha2 |
T |
C |
8: 25,549,280 (GRCm39) |
Q168R |
probably benign |
Het |
| Plekha6 |
G |
A |
1: 133,191,556 (GRCm39) |
A146T |
probably benign |
Het |
| Plekhm3 |
T |
G |
1: 64,931,912 (GRCm39) |
K564T |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,380 (GRCm39) |
V26A |
possibly damaging |
Het |
| Prdm10 |
T |
G |
9: 31,241,119 (GRCm39) |
Y302* |
probably null |
Het |
| Prdm8 |
A |
G |
5: 98,332,471 (GRCm39) |
E124G |
probably damaging |
Het |
| Prg4 |
T |
G |
1: 150,331,657 (GRCm39) |
|
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,618,475 (GRCm39) |
V779A |
probably benign |
Het |
| Rbm39 |
G |
A |
2: 156,009,504 (GRCm39) |
R123C |
probably damaging |
Het |
| Ric1 |
C |
T |
19: 29,565,172 (GRCm39) |
P640S |
probably damaging |
Het |
| Rpl14 |
G |
A |
9: 120,403,293 (GRCm39) |
|
probably benign |
Het |
| Rsl1d1 |
T |
A |
16: 11,011,558 (GRCm39) |
D382V |
probably benign |
Het |
| Rubcn |
G |
T |
16: 32,688,514 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,320,498 (GRCm39) |
R1361C |
probably damaging |
Het |
| Slc26a11 |
T |
G |
11: 119,247,798 (GRCm39) |
V41G |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,151,960 (GRCm39) |
F172L |
possibly damaging |
Het |
| Slc4a4 |
A |
C |
5: 89,327,690 (GRCm39) |
Y674S |
probably damaging |
Het |
| Spata31e3 |
A |
T |
13: 50,401,007 (GRCm39) |
Y440N |
possibly damaging |
Het |
| Strc |
A |
C |
2: 121,208,495 (GRCm39) |
M292R |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,694,381 (GRCm39) |
T210A |
probably benign |
Het |
| Tcf7l2 |
C |
A |
19: 55,743,480 (GRCm39) |
A97E |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tepsin |
G |
A |
11: 119,986,190 (GRCm39) |
T168M |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,047,456 (GRCm39) |
M178L |
probably benign |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,119 (GRCm39) |
N236S |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,725,767 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,687,000 (GRCm39) |
D630E |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,133,839 (GRCm39) |
W745* |
probably null |
Het |
| Vmn2r115 |
G |
A |
17: 23,564,989 (GRCm39) |
G292D |
probably benign |
Het |
| Vmn2r38 |
T |
A |
7: 9,078,340 (GRCm39) |
K681* |
probably null |
Het |
| Xrcc6 |
A |
G |
15: 81,915,375 (GRCm39) |
K98E |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,530,407 (GRCm39) |
V13A |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,228,141 (GRCm39) |
I5T |
possibly damaging |
Het |
| Zmynd8 |
C |
T |
2: 165,717,670 (GRCm39) |
E14K |
probably 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 |
|
|
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 |
PCR Primer
(F):5'- GACTCTTTCAGTTCCCATCAGGG -3'
(R):5'- GGAGCGCTTCCAAACTGAAG -3'
Sequencing Primer
(F):5'- ATCAGGGACACTCACCTGG -3'
(R):5'- ATCGGGGATCCAGATCTGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation