Incidental Mutation 'R1698:Tnrc18'
ID 192396
Institutional Source Beutler Lab
Gene Symbol Tnrc18
Ensembl Gene ENSMUSG00000039477
Gene Name trinucleotide repeat containing 18
Synonyms EG381742, Zfp469
MMRRC Submission 039731-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.787) question?
Stock # R1698 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 142710416-142803417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142774458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 124 (T124A)
Ref Sequence ENSEMBL: ENSMUSP00000114769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000151477] [ENSMUST00000152247] [ENSMUST00000198181]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000151477
AA Change: T124A

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: T124A

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 probably benign
Transcript: ENSMUST00000152247
SMART Domains Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477

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
Predicted Effect probably benign
Transcript: ENSMUST00000198181
SMART Domains Protein: ENSMUSP00000143178
Gene: ENSMUSG00000039477

DomainStartEndE-ValueType
low complexity region 38 50 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A C 6: 121,622,117 (GRCm39) E340A possibly damaging Het
Abca13 A G 11: 9,264,507 (GRCm39) D2963G probably benign Het
Actn3 T C 19: 4,912,235 (GRCm39) D783G possibly damaging Het
Adamtsl2 A G 2: 26,993,139 (GRCm39) E723G possibly damaging Het
Agrn G T 4: 156,251,015 (GRCm39) Q1931K probably benign Het
Ankrd27 G A 7: 35,313,946 (GRCm39) A426T probably benign Het
Atg9b C A 5: 24,593,186 (GRCm39) G406C probably damaging Het
C1ra A T 6: 124,499,725 (GRCm39) Q637L probably benign Het
Cdhr2 A T 13: 54,867,394 (GRCm39) M438L probably benign Het
Cep350 T C 1: 155,829,104 (GRCm39) I267V possibly damaging Het
Chrna5 A G 9: 54,911,926 (GRCm39) Y138C probably damaging Het
Chst3 T A 10: 60,021,525 (GRCm39) M441L probably benign Het
Cmya5 G A 13: 93,200,027 (GRCm39) P3434S probably benign Het
Cog2 T A 8: 125,252,422 (GRCm39) L42Q probably damaging Het
Cpq A T 15: 33,250,272 (GRCm39) I210F probably benign Het
Crnn C A 3: 93,055,765 (GRCm39) Q184K probably damaging Het
Csnka2ip A T 16: 64,298,422 (GRCm39) Y647* probably null Het
D5Ertd579e C T 5: 36,761,874 (GRCm39) R1331H probably benign Het
Dennd5a C T 7: 109,516,587 (GRCm39) probably null Het
Dync1h1 A G 12: 110,593,426 (GRCm39) Q1231R possibly damaging Het
Erbin T A 13: 103,970,239 (GRCm39) I1126F possibly damaging Het
Fastkd1 T C 2: 69,532,813 (GRCm39) D518G probably benign Het
Gcc1 A G 6: 28,421,110 (GRCm39) L69P possibly damaging Het
Gkn1 T C 6: 87,324,151 (GRCm39) Y119C probably damaging Het
Gmpr T G 13: 45,670,520 (GRCm39) W81G probably benign Het
Gyg1 T A 3: 20,192,215 (GRCm39) I236F probably benign Het
Hcrtr2 T C 9: 76,153,735 (GRCm39) Y219C probably damaging Het
Hmcn1 G A 1: 150,441,120 (GRCm39) Q5379* probably null Het
Kank1 T C 19: 25,388,681 (GRCm39) C785R probably benign Het
Lrp1b A T 2: 40,741,818 (GRCm39) C3036* probably null Het
Mdga2 T C 12: 66,736,109 (GRCm39) D373G probably damaging Het
Mgat2 A T 12: 69,232,493 (GRCm39) I356F probably benign Het
Miga2 A G 2: 30,268,009 (GRCm39) D346G probably damaging Het
Mprip T A 11: 59,651,084 (GRCm39) L1596Q possibly damaging Het
Mroh2b G A 15: 4,943,622 (GRCm39) R386Q probably benign Het
Mst1r T A 9: 107,797,179 (GRCm39) S1349R probably benign Het
Mtmr3 C T 11: 4,442,825 (GRCm39) R403H possibly damaging Het
Mycbpap G A 11: 94,398,969 (GRCm39) Q460* probably null Het
Myo9a T C 9: 59,775,464 (GRCm39) V1025A probably benign Het
Ncapd2 C T 6: 125,145,553 (GRCm39) E1365K probably null Het
Nkiras2 C A 11: 100,515,989 (GRCm39) D105E probably damaging Het
Nolc1 T G 19: 46,069,870 (GRCm39) probably null Het
Nos1 T C 5: 118,005,297 (GRCm39) F6L probably benign Het
Or10j3 A T 1: 173,030,938 (GRCm39) N5I probably damaging Het
Or12e1 G T 2: 87,022,081 (GRCm39) V17L probably benign Het
Or2t46 T C 11: 58,472,077 (GRCm39) Y136H probably damaging Het
Or2w1b C T 13: 21,300,735 (GRCm39) T291I probably benign Het
Or4f54 T A 2: 111,122,905 (GRCm39) C97* probably null Het
Or8b46 T A 9: 38,450,552 (GRCm39) Y120* probably null Het
Pfkm A G 15: 98,026,199 (GRCm39) E598G possibly damaging Het
Phf2 A T 13: 48,961,106 (GRCm39) D861E unknown Het
Polr2a A G 11: 69,630,703 (GRCm39) probably null Het
Popdc2 G A 16: 38,189,853 (GRCm39) V167M probably damaging Het
Ptpn22 T C 3: 103,793,114 (GRCm39) S422P probably benign Het
Rasa2 T C 9: 96,450,428 (GRCm39) K490R possibly damaging Het
Rbfox3 T A 11: 118,386,047 (GRCm39) D286V probably damaging Het
Rdh13 A G 7: 4,430,790 (GRCm39) W223R probably damaging Het
Riok3 T C 18: 12,261,986 (GRCm39) S7P probably benign Het
Rnaseh2b A G 14: 62,591,081 (GRCm39) E144G probably benign Het
Rnf20 C T 4: 49,651,498 (GRCm39) Q655* probably null Het
Rpap2 T C 5: 107,751,416 (GRCm39) Y8H probably damaging Het
Slc5a10 T C 11: 61,600,428 (GRCm39) Y181C probably benign Het
Snd1 G T 6: 28,888,252 (GRCm39) G896* probably null Het
Spast C T 17: 74,663,155 (GRCm39) Q158* probably null Het
Tas2r104 G A 6: 131,662,547 (GRCm39) S54F probably damaging Het
Tcaf2 C T 6: 42,604,951 (GRCm39) W611* probably null Het
Thoc2l C T 5: 104,668,376 (GRCm39) A966V probably benign Het
Timp4 G A 6: 115,227,364 (GRCm39) probably null Het
Tmem45a G A 16: 56,643,933 (GRCm39) S72L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Ttn T C 2: 76,773,259 (GRCm39) D2381G probably damaging Het
Uevld T C 7: 46,605,372 (GRCm39) T41A possibly damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Unc5d T C 8: 29,186,506 (GRCm39) E527G probably damaging Het
Vmn2r125 C T 4: 156,703,333 (GRCm39) T237I probably benign Het
Vmn2r63 A C 7: 42,583,038 (GRCm39) I59S probably benign Het
Vps72 G A 3: 95,026,006 (GRCm39) S106N probably benign Het
Zan A C 5: 137,407,931 (GRCm39) probably benign Het
Zbtb38 T C 9: 96,567,515 (GRCm39) K1190E probably benign Het
Zc3h6 T C 2: 128,859,278 (GRCm39) V1103A probably benign Het
Zfp407 G A 18: 84,580,282 (GRCm39) T277I probably damaging Het
Zfp804b A G 5: 6,819,509 (GRCm39) S1149P 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
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
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'- TTGACCTCTGCCAGAAAGGGAGAC -3'
(R):5'- GCTCCGATAGCTCTGAAAACGACC -3'

Sequencing Primer
(F):5'- CTCAGCCAGGCGTGAGG -3'
(R):5'- GCTCTGAAAACGACCTTTGGC -3'
Posted On 2014-05-14