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) question?
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

DomainStartEndE-ValueType
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

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
Meta Mutation Damage Score 0.1316 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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
Predicted Primers PCR Primer
(F):5'- ACACACTCACACTTGCCTGG -3'
(R):5'- TTAAGGCATCCCAGGGTCTC -3'

Sequencing Primer
(F):5'- CTGGCCACATGCACACG -3'
(R):5'- TGAGAACGATGTGCAGAC -3'
Posted On 2021-11-19