Incidental Mutation 'R9030:Tnrc18'
ID |
686989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnrc18
|
Ensembl Gene |
ENSMUSG00000039477 |
Gene Name |
trinucleotide repeat containing 18 |
Synonyms |
EG381742, Zfp469 |
MMRRC Submission |
068859-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.787)
|
Stock # |
R9030 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
142710416-142803417 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 142711818 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 2647
(E2647G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117651
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058418]
[ENSMUST00000152247]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058418
|
SMART Domains |
Protein: ENSMUSP00000059896 Gene: ENSMUSG00000050822
Domain | Start | End | E-Value | Type |
transmembrane domain
|
67 |
89 |
N/A |
INTRINSIC |
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
transmembrane domain
|
138 |
160 |
N/A |
INTRINSIC |
Pfam:Nucleoside_tran
|
170 |
501 |
2e-51 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152247
AA Change: E2647G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000117651 Gene: ENSMUSG00000039477 AA Change: E2647G
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 |
|
Meta Mutation Damage Score |
0.1316 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
A |
C |
2: 158,474,321 (GRCm39) |
I375L |
probably benign |
Het |
Adgrl2 |
G |
T |
3: 148,544,761 (GRCm39) |
T778K |
possibly damaging |
Het |
Ccn3 |
A |
T |
15: 54,615,687 (GRCm39) |
Y284F |
probably damaging |
Het |
Cdc73 |
A |
T |
1: 143,485,234 (GRCm39) |
L478H |
probably damaging |
Het |
Cdh20 |
C |
A |
1: 110,027,843 (GRCm39) |
H529Q |
probably benign |
Het |
Cep55 |
T |
C |
19: 38,059,592 (GRCm39) |
|
probably null |
Het |
Chd9 |
G |
A |
8: 91,683,198 (GRCm39) |
R546Q |
unknown |
Het |
Ddit4 |
A |
T |
10: 59,786,515 (GRCm39) |
L178Q |
probably damaging |
Het |
Dgke |
A |
T |
11: 88,941,237 (GRCm39) |
N315K |
possibly damaging |
Het |
Dsg1a |
A |
G |
18: 20,473,549 (GRCm39) |
D874G |
probably damaging |
Het |
Dsp |
T |
A |
13: 38,352,673 (GRCm39) |
Y184N |
probably damaging |
Het |
Dynlt1c |
A |
G |
17: 6,870,916 (GRCm39) |
I20V |
probably benign |
Het |
Ephx4 |
A |
G |
5: 107,577,549 (GRCm39) |
H291R |
possibly damaging |
Het |
Epx |
A |
T |
11: 87,763,470 (GRCm39) |
M250K |
probably benign |
Het |
Fan1 |
T |
C |
7: 64,022,761 (GRCm39) |
Y164C |
probably benign |
Het |
Fer1l6 |
A |
T |
15: 58,502,594 (GRCm39) |
Y1365F |
probably damaging |
Het |
Fndc8 |
A |
G |
11: 82,789,522 (GRCm39) |
T227A |
probably benign |
Het |
Gbp7 |
T |
C |
3: 142,243,798 (GRCm39) |
I115T |
probably damaging |
Het |
Gm5145 |
A |
G |
17: 20,791,270 (GRCm39) |
E216G |
probably benign |
Het |
Gm94 |
A |
T |
18: 43,914,326 (GRCm39) |
F77L |
possibly damaging |
Het |
Grik3 |
C |
A |
4: 125,526,185 (GRCm39) |
H139Q |
probably benign |
Het |
Gucy2e |
T |
C |
11: 69,115,827 (GRCm39) |
T852A |
probably damaging |
Het |
Hif1a |
T |
C |
12: 73,983,010 (GRCm39) |
S274P |
probably damaging |
Het |
Hmcn1 |
T |
A |
1: 150,692,870 (GRCm39) |
I268L |
probably benign |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Lin52 |
T |
A |
12: 84,592,681 (GRCm39) |
S87T |
|
Het |
Lrrc74b |
A |
G |
16: 17,367,640 (GRCm39) |
|
probably null |
Het |
Mapk10 |
T |
C |
5: 103,144,499 (GRCm39) |
K136R |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,325,457 (GRCm39) |
N738K |
probably null |
Het |
Nlrp5 |
A |
T |
7: 23,129,573 (GRCm39) |
Q880L |
possibly damaging |
Het |
Or2y11 |
T |
A |
11: 49,442,808 (GRCm39) |
V78E |
probably damaging |
Het |
Or5d39 |
A |
T |
2: 87,979,718 (GRCm39) |
I215N |
possibly damaging |
Het |
Or6c215 |
G |
T |
10: 129,637,926 (GRCm39) |
P156Q |
probably damaging |
Het |
P4htm |
G |
A |
9: 108,474,627 (GRCm39) |
P46L |
probably benign |
Het |
Pcsk4 |
A |
T |
10: 80,164,858 (GRCm39) |
H69Q |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,374,385 (GRCm39) |
S1917P |
probably benign |
Het |
Pnpla5 |
A |
G |
15: 83,998,087 (GRCm39) |
V385A |
possibly damaging |
Het |
Prorp |
T |
C |
12: 55,426,192 (GRCm39) |
F514S |
probably damaging |
Het |
Rims2 |
C |
T |
15: 39,339,873 (GRCm39) |
R856C |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,691,622 (GRCm39) |
Y218H |
probably benign |
Het |
Sat2 |
T |
A |
11: 69,513,069 (GRCm39) |
|
probably benign |
Het |
Sf1 |
C |
T |
19: 6,426,336 (GRCm39) |
R186C |
|
Het |
Snrnp200 |
A |
G |
2: 127,053,466 (GRCm39) |
|
probably benign |
Het |
Sqor |
A |
T |
2: 122,629,514 (GRCm39) |
D124V |
probably benign |
Het |
Ssh2 |
A |
G |
11: 77,312,062 (GRCm39) |
H191R |
possibly damaging |
Het |
Stac |
C |
A |
9: 111,519,320 (GRCm39) |
|
probably benign |
Het |
Svs4 |
T |
C |
2: 164,119,058 (GRCm39) |
M93V |
unknown |
Het |
Tbc1d32 |
A |
T |
10: 56,037,241 (GRCm39) |
S668T |
possibly damaging |
Het |
Tex10 |
A |
G |
4: 48,452,056 (GRCm39) |
F690S |
probably damaging |
Het |
Tex30 |
A |
G |
1: 44,130,356 (GRCm39) |
M88T |
|
Het |
Tgfbrap1 |
T |
C |
1: 43,095,837 (GRCm39) |
T534A |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Tubb3 |
A |
T |
8: 124,145,696 (GRCm39) |
R62W |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,690,312 (GRCm39) |
S507P |
probably benign |
Het |
Vmn2r116 |
A |
G |
17: 23,603,864 (GRCm39) |
K30E |
possibly damaging |
Het |
Vmn2r14 |
G |
A |
5: 109,368,054 (GRCm39) |
H313Y |
probably damaging |
Het |
Wdr37 |
C |
T |
13: 8,885,424 (GRCm39) |
V340M |
probably damaging |
Het |
Zfp799 |
A |
G |
17: 33,039,565 (GRCm39) |
F234L |
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 |
|
|
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 |
|
|
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 |
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Predicted Primers |
PCR Primer
(F):5'- ACACACTCACACTTGCCTGG -3'
(R):5'- TTAAGGCATCCCAGGGTCTC -3'
Sequencing Primer
(F):5'- CTGGCCACATGCACACG -3'
(R):5'- TGAGAACGATGTGCAGAC -3'
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Posted On |
2021-11-19 |