Incidental Mutation 'R6452:Tnrc18'
| ID |
519405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc18
|
| Ensembl Gene |
ENSMUSG00000039477 |
| Gene Name |
trinucleotide repeat containing 18 |
| Synonyms |
EG381742, Zfp469 |
| MMRRC Submission |
044588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.787)
|
| Stock # |
R6452 (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 C
at 142712767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 2594
(L2594R)
|
| 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: L2594R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: L2594R
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
A |
G |
13: 119,624,651 (GRCm39) |
|
probably benign |
Het |
| Alox12e |
A |
T |
11: 70,210,831 (GRCm39) |
V296E |
probably damaging |
Het |
| Bmal2 |
G |
A |
6: 146,724,705 (GRCm39) |
E400K |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,782,527 (GRCm39) |
D1273G |
probably damaging |
Het |
| Cetn3 |
C |
T |
13: 81,932,797 (GRCm39) |
R19* |
probably null |
Het |
| Chd6 |
G |
T |
2: 160,807,418 (GRCm39) |
P1932H |
possibly damaging |
Het |
| Cimip1 |
C |
A |
2: 173,369,700 (GRCm39) |
F71L |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,290 (GRCm39) |
I483N |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,801,468 (GRCm39) |
V71A |
possibly damaging |
Het |
| Dhx35 |
A |
G |
2: 158,673,607 (GRCm39) |
E346G |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,706,237 (GRCm39) |
Q1036K |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 6,992,105 (GRCm39) |
F92I |
probably benign |
Het |
| Filip1l |
C |
A |
16: 57,327,163 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fnbp1l |
A |
G |
3: 122,338,198 (GRCm39) |
F491S |
probably damaging |
Het |
| Fzd2 |
T |
G |
11: 102,495,811 (GRCm39) |
V85G |
probably damaging |
Het |
| Gjd4 |
G |
A |
18: 9,280,457 (GRCm39) |
T207M |
possibly damaging |
Het |
| Gm32742 |
T |
C |
9: 51,057,490 (GRCm39) |
E1096G |
probably damaging |
Het |
| Itgb3 |
T |
A |
11: 104,524,290 (GRCm39) |
L142* |
probably null |
Het |
| Kctd21 |
T |
A |
7: 96,996,869 (GRCm39) |
I114N |
probably benign |
Het |
| Klra4 |
G |
T |
6: 130,042,329 (GRCm39) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,197,503 (GRCm39) |
V240A |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,709,882 (GRCm39) |
S409P |
probably damaging |
Het |
| Magel2 |
A |
G |
7: 62,030,132 (GRCm39) |
E1012G |
unknown |
Het |
| Mmp24 |
A |
T |
2: 155,657,673 (GRCm39) |
D521V |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,828,998 (GRCm39) |
I768V |
probably benign |
Het |
| Mprip |
A |
T |
11: 59,643,609 (GRCm39) |
E553V |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,196,565 (GRCm39) |
I1762F |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,275 (GRCm39) |
Y718F |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Neb |
A |
T |
2: 52,069,495 (GRCm39) |
D5775E |
probably benign |
Het |
| Or10h5 |
T |
C |
17: 33,434,919 (GRCm39) |
N133S |
probably benign |
Het |
| Or5p66 |
A |
G |
7: 107,886,100 (GRCm39) |
S78P |
probably damaging |
Het |
| Pramel19 |
T |
C |
4: 101,798,640 (GRCm39) |
Y204H |
probably benign |
Het |
| Prl8a2 |
T |
C |
13: 27,536,780 (GRCm39) |
I134T |
probably benign |
Het |
| Qrich2 |
G |
A |
11: 116,346,714 (GRCm39) |
T1370I |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,281,331 (GRCm39) |
L630P |
probably damaging |
Het |
| Ranbp2 |
G |
T |
10: 58,313,979 (GRCm39) |
L1566F |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,623,079 (GRCm39) |
W727R |
probably damaging |
Het |
| Rundc3b |
A |
T |
5: 8,629,175 (GRCm39) |
|
probably null |
Het |
| Samm50 |
T |
G |
15: 84,088,298 (GRCm39) |
|
probably benign |
Het |
| Sema4f |
G |
A |
6: 82,894,643 (GRCm39) |
A476V |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,376,839 (GRCm39) |
N1031S |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,664,512 (GRCm39) |
Y390C |
probably damaging |
Het |
| Slco6d1 |
C |
A |
1: 98,348,937 (GRCm39) |
Q3K |
probably benign |
Het |
| Smim1 |
T |
C |
4: 154,108,071 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,079,017 (GRCm39) |
T606S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,062,844 (GRCm39) |
D758G |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,783,287 (GRCm39) |
R550* |
probably null |
Het |
| Tlcd3a |
G |
T |
11: 76,097,972 (GRCm39) |
G60* |
probably null |
Het |
| Vezf1 |
A |
G |
11: 87,972,496 (GRCm39) |
T468A |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,840 (GRCm39) |
I149F |
probably damaging |
Het |
| Vmn2r96 |
A |
C |
17: 18,804,117 (GRCm39) |
T264P |
probably benign |
Het |
| Zfp217 |
C |
G |
2: 169,961,214 (GRCm39) |
S371T |
probably benign |
Het |
| Zfp442 |
G |
A |
2: 150,250,028 (GRCm39) |
H568Y |
probably damaging |
Het |
| Zfp53 |
A |
C |
17: 21,729,875 (GRCm39) |
H636P |
probably damaging |
Het |
| Zscan4d |
C |
T |
7: 10,895,999 (GRCm39) |
C457Y |
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 |
|
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'- ATTCAGTGAGCAGATGGGAC -3'
(R):5'- CATTACTCCATTTGTGGCTGG -3'
Sequencing Primer
(F):5'- GCCCAGAGCCACAGATGAG -3'
(R):5'- CCATTTGTGGCTGGGCATGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation