Incidental Mutation 'R5373:Tnrc18'
ID 475504
Institutional Source Beutler Lab
Gene Symbol Tnrc18
Ensembl Gene ENSMUSG00000039477
Gene Name trinucleotide repeat containing 18
Synonyms EG381742, Zfp469
MMRRC Submission 042949-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R5373 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 142710416-142803417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 142725911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1793 (R1793C)
Ref Sequence ENSEMBL: ENSMUSP00000117651 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000152247]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000152247
AA Change: R1793C
SMART Domains Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: R1793C

DomainStartEndE-ValueType
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: ENSMUST00000196888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198932
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 96% (74/77)
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,396 (GRCm39) S862G probably benign Het
Abcb5 G T 12: 118,850,912 (GRCm39) T887K probably damaging Het
Adgrf1 G A 17: 43,601,896 (GRCm39) probably benign Het
Adss2 T G 1: 177,623,954 (GRCm39) I3L probably benign Het
Anapc7 T A 5: 122,576,280 (GRCm39) D302E probably benign Het
Ank3 A G 10: 69,789,306 (GRCm39) probably null Het
Arpp21 T G 9: 111,896,336 (GRCm39) M687L probably benign Het
Camkv T C 9: 107,824,088 (GRCm39) S221P probably benign Het
Ccdc88a C T 11: 29,413,409 (GRCm39) T649M possibly damaging Het
Cdh12 A C 15: 21,583,998 (GRCm39) S613R probably damaging Het
Chsy1 C T 7: 65,759,824 (GRCm39) Q56* probably null Het
Cisd2 A G 3: 135,114,596 (GRCm39) V125A probably benign Het
Cntnap2 T A 6: 47,084,903 (GRCm39) H1121Q probably benign Het
Corin A T 5: 72,462,296 (GRCm39) C876S probably damaging Het
Cplane1 T C 15: 8,300,287 (GRCm39) V3198A unknown Het
Cspp1 T G 1: 10,204,351 (GRCm39) L1038R probably damaging Het
Cwc15 A G 9: 14,416,234 (GRCm39) K147E possibly damaging Het
Dlgap2 A G 8: 14,873,614 (GRCm39) D739G probably benign Het
Dmxl2 A G 9: 54,276,473 (GRCm39) probably benign Het
Dnajc6 T C 4: 101,472,824 (GRCm39) I317T probably damaging Het
Dpysl3 T C 18: 43,494,101 (GRCm39) Y193C probably damaging Het
Dtna T C 18: 23,784,670 (GRCm39) Y730H probably damaging Het
Dusp3 A G 11: 101,875,451 (GRCm39) Y38H possibly damaging Het
Eif3m A T 2: 104,843,277 (GRCm39) I151N probably damaging Het
Eml2 A T 7: 18,913,188 (GRCm39) D62V possibly damaging Het
Epb41l3 C A 17: 69,593,795 (GRCm39) H810N probably damaging Het
Evc2 C T 5: 37,535,554 (GRCm39) R410W probably damaging Het
Fam169b T C 7: 67,950,586 (GRCm39) Y13H probably damaging Het
Fcrl5 A G 3: 87,353,698 (GRCm39) T348A probably benign Het
Fezf2 A T 14: 12,344,803 (GRCm38) V128E possibly damaging Het
Ighv3-5 A G 12: 114,226,573 (GRCm39) S18P probably damaging Het
Kcnq5 T A 1: 22,031,795 (GRCm39) H4L unknown Het
Kdm5d C T Y: 927,995 (GRCm39) P756S probably benign Het
Lig1 AG A 7: 13,039,849 (GRCm39) probably null Het
Ly75 A T 2: 60,142,115 (GRCm39) L1332M possibly damaging Het
Med1 T A 11: 98,054,789 (GRCm39) K378N probably damaging Het
Mn1 A G 5: 111,569,752 (GRCm39) probably null Het
Mpo T C 11: 87,694,437 (GRCm39) probably null Het
Mtfr2 G T 10: 20,228,598 (GRCm39) C48F probably benign Het
Nt5c G A 11: 115,381,643 (GRCm39) probably null Het
Pcdhga4 T C 18: 37,818,649 (GRCm39) V66A probably damaging Het
Pik3c3 T C 18: 30,445,614 (GRCm39) S534P probably benign Het
Pla2g4e A T 2: 120,016,876 (GRCm39) C222S probably benign Het
Plch1 A C 3: 63,605,499 (GRCm39) H1468Q probably benign Het
Psd2 T A 18: 36,140,556 (GRCm39) W610R probably damaging Het
Ptgs1 A T 2: 36,141,198 (GRCm39) K548N probably damaging Het
Ptpn14 T C 1: 189,583,160 (GRCm39) M669T probably benign Het
Ptprf G T 4: 118,083,238 (GRCm39) T923K possibly damaging Het
Ptprg A G 14: 12,213,665 (GRCm38) N1011S probably benign Het
Ptprz1 T A 6: 23,007,354 (GRCm39) V1639E probably damaging Het
Rgsl1 C T 1: 153,666,053 (GRCm39) V986I probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Rxfp2 A G 5: 149,993,725 (GRCm39) T596A probably benign Het
Serpina3j A G 12: 104,280,986 (GRCm39) D53G probably damaging Het
Slc26a7 A T 4: 14,546,447 (GRCm39) I294N probably damaging Het
Slirp T C 12: 87,496,192 (GRCm39) S96P possibly damaging Het
Snx6 T C 12: 54,817,513 (GRCm39) E128G probably damaging Het
Spata6 T A 4: 111,680,031 (GRCm39) probably null Het
Stap1 A G 5: 86,238,787 (GRCm39) T152A possibly damaging Het
Susd5 G A 9: 113,911,653 (GRCm39) G188R probably damaging Het
Thap2 A T 10: 115,208,744 (GRCm39) Y125* probably null Het
Ugt1a10 T A 1: 87,983,632 (GRCm39) D143E probably damaging Het
Vmn1r85 A T 7: 12,818,255 (GRCm39) Y296* probably null Het
Vmn2r71 C T 7: 85,267,750 (GRCm39) T68I possibly damaging Het
Zc3h6 A T 2: 128,844,076 (GRCm39) I207F possibly damaging Het
Zfp518a T C 19: 40,901,954 (GRCm39) S628P probably benign Het
Zfp85 T C 13: 67,897,577 (GRCm39) Y165C probably damaging Het
Zup1 T C 10: 33,803,462 (GRCm39) N541D possibly damaging Het
Other mutations in Tnrc18
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On 2017-05-04