Incidental Mutation 'R6894:Tnrc18'
ID |
538204 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnrc18
|
Ensembl Gene |
ENSMUSG00000039477 |
Gene Name |
trinucleotide repeat containing 18 |
Synonyms |
EG381742, Zfp469 |
MMRRC Submission |
044988-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.820)
|
Stock # |
R6894 (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 T
at 142745804 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1323
(M1323K)
|
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: ENSMUST00000151477
AA Change: M1548K
|
SMART Domains |
Protein: ENSMUSP00000114769 Gene: ENSMUSG00000039477 AA Change: M1548K
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: M1323K
|
SMART Domains |
Protein: ENSMUSP00000117651 Gene: ENSMUSG00000039477 AA Change: M1323K
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: 97.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
C |
A |
2: 151,315,227 (GRCm39) |
L150F |
probably damaging |
Het |
4930449I24Rik |
G |
A |
5: 146,441,542 (GRCm39) |
E230K |
possibly damaging |
Het |
4930449I24Rik |
A |
T |
5: 146,441,543 (GRCm39) |
E230V |
probably benign |
Het |
9430038I01Rik |
A |
G |
7: 136,989,117 (GRCm39) |
C93R |
possibly damaging |
Het |
Aoc1l2 |
G |
A |
6: 48,907,596 (GRCm39) |
A199T |
probably damaging |
Het |
Apobec1 |
T |
C |
6: 122,568,201 (GRCm39) |
|
probably benign |
Het |
Arl4c |
T |
A |
1: 88,629,097 (GRCm39) |
D97V |
probably damaging |
Het |
Ash1l |
A |
G |
3: 88,890,298 (GRCm39) |
T726A |
probably benign |
Het |
Asz1 |
A |
C |
6: 18,055,520 (GRCm39) |
F359V |
probably damaging |
Het |
Atr |
T |
A |
9: 95,809,250 (GRCm39) |
L1970H |
probably damaging |
Het |
Baz2a |
G |
T |
10: 127,959,450 (GRCm39) |
A1322S |
possibly damaging |
Het |
Cd209e |
T |
A |
8: 3,903,569 (GRCm39) |
I37F |
possibly damaging |
Het |
Cd209f |
T |
C |
8: 4,155,477 (GRCm39) |
K37R |
probably benign |
Het |
Cd5 |
G |
C |
19: 10,716,203 (GRCm39) |
S3C |
possibly damaging |
Het |
Clec16a |
A |
T |
16: 10,462,718 (GRCm39) |
I260F |
probably damaging |
Het |
Cltc |
A |
T |
11: 86,603,428 (GRCm39) |
Y799* |
probably null |
Het |
Cplane1 |
T |
C |
15: 8,216,852 (GRCm39) |
L690P |
probably damaging |
Het |
Csde1 |
G |
A |
3: 102,951,972 (GRCm39) |
V258I |
possibly damaging |
Het |
Dennd5a |
G |
T |
7: 109,500,325 (GRCm39) |
H909Q |
probably damaging |
Het |
Dnah12 |
A |
G |
14: 26,456,904 (GRCm39) |
D890G |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,375,086 (GRCm39) |
M1379K |
probably benign |
Het |
Dpp10 |
A |
T |
1: 123,264,593 (GRCm39) |
I743N |
probably damaging |
Het |
Dpp9 |
T |
A |
17: 56,495,321 (GRCm39) |
T815S |
probably damaging |
Het |
Ears2 |
T |
C |
7: 121,647,447 (GRCm39) |
N279S |
probably damaging |
Het |
Ect2l |
A |
G |
10: 18,045,128 (GRCm39) |
|
probably null |
Het |
Eomes |
C |
G |
9: 118,310,353 (GRCm39) |
P288A |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,909,072 (GRCm39) |
D2310G |
probably damaging |
Het |
Fignl2 |
T |
C |
15: 100,951,854 (GRCm39) |
T143A |
probably benign |
Het |
Gdf9 |
A |
G |
11: 53,327,646 (GRCm39) |
K201E |
possibly damaging |
Het |
Gfra3 |
C |
T |
18: 34,828,710 (GRCm39) |
R228Q |
probably damaging |
Het |
Grin1 |
A |
T |
2: 25,185,829 (GRCm39) |
V876E |
probably damaging |
Het |
Igkv12-41 |
A |
C |
6: 69,835,635 (GRCm39) |
V39G |
probably damaging |
Het |
Kat7 |
A |
T |
11: 95,174,910 (GRCm39) |
M367K |
possibly damaging |
Het |
Ly6d |
T |
C |
15: 74,634,654 (GRCm39) |
K33E |
possibly damaging |
Het |
Lztfl1 |
T |
C |
9: 123,529,998 (GRCm39) |
N273S |
possibly damaging |
Het |
Macf1 |
T |
A |
4: 123,377,480 (GRCm39) |
I1485F |
possibly damaging |
Het |
Marchf10 |
G |
T |
11: 105,287,787 (GRCm39) |
L172I |
possibly damaging |
Het |
Mdn1 |
T |
G |
4: 32,748,614 (GRCm39) |
S4220A |
possibly damaging |
Het |
Muc16 |
A |
G |
9: 18,406,872 (GRCm39) |
V8460A |
possibly damaging |
Het |
Myh14 |
A |
G |
7: 44,282,936 (GRCm39) |
F769L |
probably damaging |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Mylk4 |
A |
G |
13: 32,905,998 (GRCm39) |
L395P |
probably damaging |
Het |
Nat8f6 |
A |
T |
6: 85,785,504 (GRCm39) |
L215* |
probably null |
Het |
Nell2 |
T |
C |
15: 95,244,768 (GRCm39) |
D443G |
probably damaging |
Het |
Nkx6-3 |
A |
G |
8: 23,647,632 (GRCm39) |
K197R |
probably benign |
Het |
Nt5c3 |
A |
T |
6: 56,859,958 (GRCm39) |
L293* |
probably null |
Het |
Ntrk1 |
A |
T |
3: 87,690,109 (GRCm39) |
V429D |
probably damaging |
Het |
Obscn |
A |
G |
11: 59,023,508 (GRCm39) |
V623A |
probably benign |
Het |
Or2o1 |
T |
C |
11: 49,051,186 (GRCm39) |
F115S |
probably benign |
Het |
Or4c1 |
A |
G |
2: 89,133,837 (GRCm39) |
L33S |
probably damaging |
Het |
Or5ac21 |
A |
G |
16: 59,124,142 (GRCm39) |
T209A |
probably damaging |
Het |
Or5p5 |
C |
T |
7: 107,414,271 (GRCm39) |
T160I |
probably benign |
Het |
Or6c74 |
T |
C |
10: 129,870,178 (GRCm39) |
S228P |
probably damaging |
Het |
Or8k22 |
A |
T |
2: 86,163,295 (GRCm39) |
I135N |
probably damaging |
Het |
Pate3 |
T |
A |
9: 35,557,969 (GRCm39) |
D33V |
probably damaging |
Het |
Pcnx1 |
T |
A |
12: 82,034,747 (GRCm39) |
I1843N |
probably damaging |
Het |
Pla2g4f |
A |
T |
2: 120,134,077 (GRCm39) |
I503N |
probably benign |
Het |
Prkg1 |
C |
A |
19: 30,602,174 (GRCm39) |
E361* |
probably null |
Het |
Proca1 |
A |
G |
11: 78,085,613 (GRCm39) |
|
probably benign |
Het |
Prss38 |
G |
T |
11: 59,263,850 (GRCm39) |
H287Q |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,744,114 (GRCm39) |
E169G |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,681,440 (GRCm39) |
S65G |
probably damaging |
Het |
Rfx6 |
A |
T |
10: 51,592,135 (GRCm39) |
H177L |
probably damaging |
Het |
Slc20a2 |
G |
A |
8: 23,050,609 (GRCm39) |
G276D |
possibly damaging |
Het |
Spag6l |
A |
T |
16: 16,601,802 (GRCm39) |
L159I |
probably damaging |
Het |
Spata31f1a |
G |
A |
4: 42,850,291 (GRCm39) |
P622S |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Stk33 |
T |
A |
7: 108,935,269 (GRCm39) |
E174D |
possibly damaging |
Het |
Stxbp5 |
A |
T |
10: 9,660,105 (GRCm39) |
V730E |
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,872,702 (GRCm39) |
L168* |
probably null |
Het |
Tpr |
T |
C |
1: 150,312,598 (GRCm39) |
V1932A |
probably benign |
Het |
Trak2 |
A |
G |
1: 58,950,892 (GRCm39) |
S432P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,738,534 (GRCm39) |
F4002I |
probably benign |
Het |
Txndc11 |
G |
A |
16: 10,906,009 (GRCm39) |
T507I |
probably damaging |
Het |
Usp12 |
G |
A |
5: 146,691,349 (GRCm39) |
T135I |
possibly damaging |
Het |
Vit |
T |
A |
17: 78,934,187 (GRCm39) |
Y596* |
probably null |
Het |
Vmn1r32 |
A |
T |
6: 66,530,345 (GRCm39) |
Y144N |
possibly damaging |
Het |
Vmn2r80 |
G |
T |
10: 79,005,438 (GRCm39) |
L358F |
probably benign |
Het |
Zfp382 |
T |
G |
7: 29,825,261 (GRCm39) |
S38A |
probably benign |
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 |
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'- TTCAGAGACAAGCCGAGTCC -3'
(R):5'- CAGACACAGCCCCATTTTAGATG -3'
Sequencing Primer
(F):5'- AGACAAGCCGAGTCCTTTGG -3'
(R):5'- CATTTTAGATGGAAGGGCTGAGGAC -3'
|
Posted On |
2018-11-06 |