Incidental Mutation 'R4942:Tnrc18'
ID 383181
Institutional Source Beutler Lab
Gene Symbol Tnrc18
Ensembl Gene ENSMUSG00000039477
Gene Name trinucleotide repeat containing 18
Synonyms EG381742, Zfp469
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R4942 (G1)
Quality Score 124
Status Not validated
Chromosome 5
Chromosomal Location 142710416-142803417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142773737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 181 (I181N)
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: ENSMUST00000036253
AA Change: I364N
SMART Domains Protein: ENSMUSP00000040287
Gene: ENSMUSG00000039477
AA Change: I364N

DomainStartEndE-ValueType
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
low complexity region 820 859 N/A INTRINSIC
low complexity region 915 929 N/A INTRINSIC
low complexity region 950 969 N/A INTRINSIC
low complexity region 979 992 N/A INTRINSIC
low complexity region 1092 1111 N/A INTRINSIC
low complexity region 1268 1288 N/A INTRINSIC
coiled coil region 1410 1442 N/A INTRINSIC
low complexity region 1476 1492 N/A INTRINSIC
low complexity region 1580 1592 N/A INTRINSIC
low complexity region 1607 1618 N/A INTRINSIC
low complexity region 1734 1751 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000151477
AA Change: I364N
SMART Domains Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: I364N

DomainStartEndE-ValueType
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: I181N
SMART Domains Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: I181N

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: ENSMUST00000155461
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,720,472 (GRCm39) probably null Het
Adamts7 T C 9: 90,045,364 (GRCm39) S23P probably benign Het
Adamtsl1 T A 4: 86,259,451 (GRCm39) C824* probably null Het
Adgre1 A G 17: 57,713,903 (GRCm39) Y196C probably damaging Het
Arap1 A G 7: 101,051,009 (GRCm39) D542G possibly damaging Het
B3gat1 A G 9: 26,666,894 (GRCm39) D42G probably benign Het
Birc6 G A 17: 74,930,045 (GRCm39) A2412T probably damaging Het
Bnip5 T C 17: 29,122,232 (GRCm39) R420G probably benign Het
Bsn A G 9: 107,983,678 (GRCm39) Y3459H unknown Het
Cacnb1 T C 11: 97,893,809 (GRCm39) Y571C probably damaging Het
Cdk2ap2 G A 19: 4,147,508 (GRCm39) probably null Het
Cep57 A G 9: 13,724,723 (GRCm39) S265P probably damaging Het
Clca3a1 A G 3: 144,710,524 (GRCm39) I893T probably benign Het
Clca3a2 T A 3: 144,512,263 (GRCm39) E491V probably damaging Het
Cldn10 G A 14: 119,025,725 (GRCm39) G53S possibly damaging Het
Cobl A T 11: 12,204,185 (GRCm39) I832N probably damaging Het
Col9a2 T C 4: 120,910,316 (GRCm39) V487A possibly damaging Het
Cse1l C T 2: 166,771,714 (GRCm39) T325I probably damaging Het
Dlx6 A G 6: 6,863,468 (GRCm39) Q30R probably benign Het
Dnah8 T C 17: 30,948,116 (GRCm39) V1902A probably benign Het
Dusp8 A G 7: 141,635,965 (GRCm39) F542L possibly damaging Het
Emid1 T G 11: 5,079,430 (GRCm39) M323L probably benign Het
Ercc5 A G 1: 44,215,125 (GRCm39) D886G probably benign Het
Fam184b T C 5: 45,730,649 (GRCm39) E461G probably damaging Het
Fbn1 C A 2: 125,225,536 (GRCm39) C572F possibly damaging Het
Gigyf1 G T 5: 137,523,952 (GRCm39) V1041L possibly damaging Het
Grin3b A G 10: 79,811,556 (GRCm39) H714R probably damaging Het
Heatr1 A G 13: 12,428,391 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lypd6b C A 2: 49,836,132 (GRCm39) H104Q probably benign Het
Man1a A T 10: 53,809,586 (GRCm39) probably null Het
Megf6 A T 4: 154,338,277 (GRCm39) D449V probably damaging Het
Mtor T C 4: 148,556,599 (GRCm39) V1003A probably benign Het
Ncan C A 8: 70,552,944 (GRCm39) W1096L probably damaging Het
Ndor1 C T 2: 25,138,133 (GRCm39) probably null Het
Ndufaf1 T C 2: 119,490,547 (GRCm39) E171G possibly damaging Het
Nell1 T C 7: 49,770,397 (GRCm39) V152A possibly damaging Het
Nherf4 C A 9: 44,159,915 (GRCm39) G402* probably null Het
Nt5dc1 A T 10: 34,198,673 (GRCm39) V255E probably damaging Het
Or2a20 T A 6: 43,193,928 (GRCm39) F27Y probably damaging Het
Or2y1b A T 11: 49,208,375 (GRCm39) M1L probably null Het
Or52h7 A G 7: 104,214,212 (GRCm39) I261M probably benign Het
Or52z14 G A 7: 103,253,401 (GRCm39) R180H probably benign Het
Otud7a T C 7: 63,407,171 (GRCm39) I50T probably damaging Het
P2ry13 G A 3: 59,116,983 (GRCm39) T265I probably benign Het
Pde4d A G 13: 108,996,733 (GRCm39) S12G probably benign Het
Pigk C A 3: 152,450,154 (GRCm39) N219K probably damaging Het
Plcg1 T A 2: 160,595,509 (GRCm39) probably null Het
Psd2 A T 18: 36,111,717 (GRCm39) D114V probably damaging Het
Ptch1 A T 13: 63,672,884 (GRCm39) I770N probably benign Het
Ptprq A T 10: 107,524,290 (GRCm39) M481K probably benign Het
Rnf216 A C 5: 143,078,814 (GRCm39) M45R probably damaging Het
Rpsa T A 9: 119,960,129 (GRCm39) W231R probably benign Het
Ryr1 G T 7: 28,768,998 (GRCm39) T2797N probably damaging Het
Ryr3 A T 2: 112,666,602 (GRCm39) M1468K probably damaging Het
Slc6a7 A G 18: 61,137,589 (GRCm39) Y244H probably damaging Het
Slco6c1 T A 1: 97,009,049 (GRCm39) D462V probably damaging Het
Spata31d1b A T 13: 59,864,917 (GRCm39) E688D possibly damaging Het
Srpra G A 9: 35,126,766 (GRCm39) R508H probably benign Het
Tnrc6a T C 7: 122,791,836 (GRCm39) F1785L probably damaging Het
Trio A T 15: 27,752,811 (GRCm39) D2174E probably benign Het
Ttn C T 2: 76,623,600 (GRCm39) V15326I probably damaging Het
Ubap2 T A 4: 41,245,461 (GRCm39) probably benign Het
Vmn2r113 C T 17: 23,177,321 (GRCm39) P702S probably damaging Het
Vmn2r66 A T 7: 84,656,980 (GRCm39) W142R probably damaging Het
Vmn2r73 A G 7: 85,519,582 (GRCm39) Y459H probably damaging Het
Wsb2 C T 5: 117,515,550 (GRCm39) T385M probably 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
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
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'- CAGGCCAAAGAGCTTAGCAG -3'
(R):5'- TACACCGTGTTCCGTGAAC -3'

Sequencing Primer
(F):5'- CTCGGGCTTGAGTAGTTC -3'
(R):5'- TGTTCCGTGAACCAGGCC -3'
Posted On 2016-04-27