Incidental Mutation 'R4942:Tnrc18'
ID |
383181 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnrc18
|
Ensembl Gene |
ENSMUSG00000039477 |
Gene Name |
trinucleotide repeat containing 18 |
Synonyms |
EG381742, Zfp469 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.787)
|
Stock # |
R4942 (G1)
|
Quality Score |
124 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
142710416-142803417 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142773737 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 181
(I181N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151477]
[ENSMUST00000152247]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000036253
AA Change: I364N
|
SMART Domains |
Protein: ENSMUSP00000040287 Gene: ENSMUSG00000039477 AA Change: I364N
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 |
low complexity region
|
820 |
859 |
N/A |
INTRINSIC |
low complexity region
|
915 |
929 |
N/A |
INTRINSIC |
low complexity region
|
950 |
969 |
N/A |
INTRINSIC |
low complexity region
|
979 |
992 |
N/A |
INTRINSIC |
low complexity region
|
1092 |
1111 |
N/A |
INTRINSIC |
low complexity region
|
1268 |
1288 |
N/A |
INTRINSIC |
coiled coil region
|
1410 |
1442 |
N/A |
INTRINSIC |
low complexity region
|
1476 |
1492 |
N/A |
INTRINSIC |
low complexity region
|
1580 |
1592 |
N/A |
INTRINSIC |
low complexity region
|
1607 |
1618 |
N/A |
INTRINSIC |
low complexity region
|
1734 |
1751 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151477
AA Change: I364N
|
SMART Domains |
Protein: ENSMUSP00000114769 Gene: ENSMUSG00000039477 AA Change: I364N
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: I181N
|
SMART Domains |
Protein: ENSMUSP00000117651 Gene: ENSMUSG00000039477 AA Change: I181N
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: ENSMUST00000155461
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730522E02Rik |
A |
G |
11: 25,720,472 (GRCm39) |
|
probably null |
Het |
Adamts7 |
T |
C |
9: 90,045,364 (GRCm39) |
S23P |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 86,259,451 (GRCm39) |
C824* |
probably null |
Het |
Adgre1 |
A |
G |
17: 57,713,903 (GRCm39) |
Y196C |
probably damaging |
Het |
Arap1 |
A |
G |
7: 101,051,009 (GRCm39) |
D542G |
possibly damaging |
Het |
B3gat1 |
A |
G |
9: 26,666,894 (GRCm39) |
D42G |
probably benign |
Het |
Birc6 |
G |
A |
17: 74,930,045 (GRCm39) |
A2412T |
probably damaging |
Het |
Bnip5 |
T |
C |
17: 29,122,232 (GRCm39) |
R420G |
probably benign |
Het |
Bsn |
A |
G |
9: 107,983,678 (GRCm39) |
Y3459H |
unknown |
Het |
Cacnb1 |
T |
C |
11: 97,893,809 (GRCm39) |
Y571C |
probably damaging |
Het |
Cdk2ap2 |
G |
A |
19: 4,147,508 (GRCm39) |
|
probably null |
Het |
Cep57 |
A |
G |
9: 13,724,723 (GRCm39) |
S265P |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,710,524 (GRCm39) |
I893T |
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,512,263 (GRCm39) |
E491V |
probably damaging |
Het |
Cldn10 |
G |
A |
14: 119,025,725 (GRCm39) |
G53S |
possibly damaging |
Het |
Cobl |
A |
T |
11: 12,204,185 (GRCm39) |
I832N |
probably damaging |
Het |
Col9a2 |
T |
C |
4: 120,910,316 (GRCm39) |
V487A |
possibly damaging |
Het |
Cse1l |
C |
T |
2: 166,771,714 (GRCm39) |
T325I |
probably damaging |
Het |
Dlx6 |
A |
G |
6: 6,863,468 (GRCm39) |
Q30R |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,948,116 (GRCm39) |
V1902A |
probably benign |
Het |
Dusp8 |
A |
G |
7: 141,635,965 (GRCm39) |
F542L |
possibly damaging |
Het |
Emid1 |
T |
G |
11: 5,079,430 (GRCm39) |
M323L |
probably benign |
Het |
Ercc5 |
A |
G |
1: 44,215,125 (GRCm39) |
D886G |
probably benign |
Het |
Fam184b |
T |
C |
5: 45,730,649 (GRCm39) |
E461G |
probably damaging |
Het |
Fbn1 |
C |
A |
2: 125,225,536 (GRCm39) |
C572F |
possibly damaging |
Het |
Gigyf1 |
G |
T |
5: 137,523,952 (GRCm39) |
V1041L |
possibly damaging |
Het |
Grin3b |
A |
G |
10: 79,811,556 (GRCm39) |
H714R |
probably damaging |
Het |
Heatr1 |
A |
G |
13: 12,428,391 (GRCm39) |
|
probably null |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
Lypd6b |
C |
A |
2: 49,836,132 (GRCm39) |
H104Q |
probably benign |
Het |
Man1a |
A |
T |
10: 53,809,586 (GRCm39) |
|
probably null |
Het |
Megf6 |
A |
T |
4: 154,338,277 (GRCm39) |
D449V |
probably damaging |
Het |
Mtor |
T |
C |
4: 148,556,599 (GRCm39) |
V1003A |
probably benign |
Het |
Ncan |
C |
A |
8: 70,552,944 (GRCm39) |
W1096L |
probably damaging |
Het |
Ndor1 |
C |
T |
2: 25,138,133 (GRCm39) |
|
probably null |
Het |
Ndufaf1 |
T |
C |
2: 119,490,547 (GRCm39) |
E171G |
possibly damaging |
Het |
Nell1 |
T |
C |
7: 49,770,397 (GRCm39) |
V152A |
possibly damaging |
Het |
Nherf4 |
C |
A |
9: 44,159,915 (GRCm39) |
G402* |
probably null |
Het |
Nt5dc1 |
A |
T |
10: 34,198,673 (GRCm39) |
V255E |
probably damaging |
Het |
Or2a20 |
T |
A |
6: 43,193,928 (GRCm39) |
F27Y |
probably damaging |
Het |
Or2y1b |
A |
T |
11: 49,208,375 (GRCm39) |
M1L |
probably null |
Het |
Or52h7 |
A |
G |
7: 104,214,212 (GRCm39) |
I261M |
probably benign |
Het |
Or52z14 |
G |
A |
7: 103,253,401 (GRCm39) |
R180H |
probably benign |
Het |
Otud7a |
T |
C |
7: 63,407,171 (GRCm39) |
I50T |
probably damaging |
Het |
P2ry13 |
G |
A |
3: 59,116,983 (GRCm39) |
T265I |
probably benign |
Het |
Pde4d |
A |
G |
13: 108,996,733 (GRCm39) |
S12G |
probably benign |
Het |
Pigk |
C |
A |
3: 152,450,154 (GRCm39) |
N219K |
probably damaging |
Het |
Plcg1 |
T |
A |
2: 160,595,509 (GRCm39) |
|
probably null |
Het |
Psd2 |
A |
T |
18: 36,111,717 (GRCm39) |
D114V |
probably damaging |
Het |
Ptch1 |
A |
T |
13: 63,672,884 (GRCm39) |
I770N |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,524,290 (GRCm39) |
M481K |
probably benign |
Het |
Rnf216 |
A |
C |
5: 143,078,814 (GRCm39) |
M45R |
probably damaging |
Het |
Rpsa |
T |
A |
9: 119,960,129 (GRCm39) |
W231R |
probably benign |
Het |
Ryr1 |
G |
T |
7: 28,768,998 (GRCm39) |
T2797N |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,666,602 (GRCm39) |
M1468K |
probably damaging |
Het |
Slc6a7 |
A |
G |
18: 61,137,589 (GRCm39) |
Y244H |
probably damaging |
Het |
Slco6c1 |
T |
A |
1: 97,009,049 (GRCm39) |
D462V |
probably damaging |
Het |
Spata31d1b |
A |
T |
13: 59,864,917 (GRCm39) |
E688D |
possibly damaging |
Het |
Srpra |
G |
A |
9: 35,126,766 (GRCm39) |
R508H |
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,791,836 (GRCm39) |
F1785L |
probably damaging |
Het |
Trio |
A |
T |
15: 27,752,811 (GRCm39) |
D2174E |
probably benign |
Het |
Ttn |
C |
T |
2: 76,623,600 (GRCm39) |
V15326I |
probably damaging |
Het |
Ubap2 |
T |
A |
4: 41,245,461 (GRCm39) |
|
probably benign |
Het |
Vmn2r113 |
C |
T |
17: 23,177,321 (GRCm39) |
P702S |
probably damaging |
Het |
Vmn2r66 |
A |
T |
7: 84,656,980 (GRCm39) |
W142R |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,519,582 (GRCm39) |
Y459H |
probably damaging |
Het |
Wsb2 |
C |
T |
5: 117,515,550 (GRCm39) |
T385M |
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 |
|
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 |
|
|
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'- CAGGCCAAAGAGCTTAGCAG -3'
(R):5'- TACACCGTGTTCCGTGAAC -3'
Sequencing Primer
(F):5'- CTCGGGCTTGAGTAGTTC -3'
(R):5'- TGTTCCGTGAACCAGGCC -3'
|
Posted On |
2016-04-27 |