Incidental Mutation 'R2010:Tnrc6a'
ID 219487
Institutional Source Beutler Lab
Gene Symbol Tnrc6a
Ensembl Gene ENSMUSG00000052707
Gene Name trinucleotide repeat containing 6a
Synonyms 3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik
MMRRC Submission 040019-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R2010 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 122723108-122794519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 122770269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 686 (H686Q)
Ref Sequence ENSEMBL: ENSMUSP00000091595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094053] [ENSMUST00000205514] [ENSMUST00000206888] [ENSMUST00000206014]
AlphaFold Q3UHK8
Predicted Effect probably benign
Transcript: ENSMUST00000094053
AA Change: H686Q

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: H686Q

DomainStartEndE-ValueType
coiled coil region 5 54 N/A INTRINSIC
low complexity region 69 92 N/A INTRINSIC
low complexity region 93 113 N/A INTRINSIC
low complexity region 281 294 N/A INTRINSIC
low complexity region 430 443 N/A INTRINSIC
low complexity region 568 590 N/A INTRINSIC
internal_repeat_1 690 853 3.51e-6 PROSPERO
low complexity region 858 871 N/A INTRINSIC
Pfam:Ago_hook 1028 1190 1.2e-29 PFAM
low complexity region 1284 1296 N/A INTRINSIC
low complexity region 1301 1316 N/A INTRINSIC
low complexity region 1337 1376 N/A INTRINSIC
low complexity region 1386 1392 N/A INTRINSIC
Pfam:TNRC6-PABC_bdg 1439 1714 1.5e-126 PFAM
RRM 1717 1784 4.95e-2 SMART
low complexity region 1808 1820 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205449
Predicted Effect probably benign
Transcript: ENSMUST00000205514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205732
Predicted Effect probably benign
Transcript: ENSMUST00000205760
AA Change: H138Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205789
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206922
Predicted Effect probably benign
Transcript: ENSMUST00000206888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211170
Predicted Effect probably benign
Transcript: ENSMUST00000206014
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein is highly similar to a human protein that functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The human protein associates with messenger RNAs and argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies, and inhibiting its expression delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit partial embryonic lethality during organogenesis associated with impaired hematopoiesis. [provided by MGI curators]
Allele List at MGI

All alleles(21) : Gene trapped(21)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik G A 3: 36,535,955 (GRCm39) G74S unknown Het
Aimp1 A T 3: 132,373,253 (GRCm39) L229Q probably benign Het
Arhgef6 T C X: 56,344,865 (GRCm39) T52A possibly damaging Het
Aste1 C A 9: 105,280,701 (GRCm39) H25Q probably damaging Het
Atp13a1 G A 8: 70,244,010 (GRCm39) G36R possibly damaging Het
Bahcc1 T C 11: 120,163,604 (GRCm39) V634A probably damaging Het
Bltp1 T G 3: 36,982,700 (GRCm39) N788K probably benign Het
C1s1 A T 6: 124,514,353 (GRCm39) Y168N probably damaging Het
Camsap2 T C 1: 136,202,606 (GRCm39) S612G probably damaging Het
Cdh23 C A 10: 60,150,006 (GRCm39) R2611L probably damaging Het
Cfap20dc A T 14: 8,511,021 (GRCm38) F464L probably damaging Het
Cilp2 A G 8: 70,334,344 (GRCm39) Y885H probably damaging Het
Dhrs3 C T 4: 144,653,758 (GRCm39) T227I possibly damaging Het
Dnah2 A T 11: 69,349,184 (GRCm39) probably null Het
Dnah3 T G 7: 119,694,400 (GRCm39) M1L probably benign Het
Ehbp1l1 A G 19: 5,769,311 (GRCm39) I664T probably benign Het
Eif4e C T 3: 138,261,219 (GRCm39) T171I probably benign Het
Elfn1 C T 5: 139,959,071 (GRCm39) R692W probably damaging Het
Eps8l3 T A 3: 107,786,688 (GRCm39) M1K probably null Het
Evi5 C A 5: 107,961,411 (GRCm39) probably null Het
Fancd2 A T 6: 113,570,252 (GRCm39) D1401V probably damaging Het
Fat2 G A 11: 55,144,653 (GRCm39) R4074C probably damaging Het
Fkbp4 A T 6: 128,412,765 (GRCm39) V55E probably benign Het
Fnip1 A G 11: 54,373,329 (GRCm39) D180G probably damaging Het
Galc A G 12: 98,220,489 (GRCm39) F126S possibly damaging Het
Gdf7 C T 12: 8,351,729 (GRCm39) V69M unknown Het
Glis2 A G 16: 4,426,575 (GRCm39) E22G probably damaging Het
H2bc3 G A 13: 23,931,111 (GRCm39) V112M possibly damaging Het
Hps4 T A 5: 112,517,342 (GRCm39) V243E probably damaging Het
Ighe T A 12: 113,235,108 (GRCm39) I351F unknown Het
Irak4 A T 15: 94,449,687 (GRCm39) R55S probably damaging Het
Itpr2 G A 6: 146,129,022 (GRCm39) probably null Het
Katnip A G 7: 125,472,128 (GRCm39) I1544M possibly damaging Het
Kirrel3 T C 9: 34,850,494 (GRCm39) Y41H probably damaging Het
Krr1 A G 10: 111,811,474 (GRCm39) E56G possibly damaging Het
Lgi1 G A 19: 38,289,683 (GRCm39) V250I probably damaging Het
Lipf A G 19: 33,950,946 (GRCm39) N306D probably benign Het
Lman2l C T 1: 36,484,262 (GRCm39) W18* probably null Het
Lztfl1 T A 9: 123,531,251 (GRCm39) N239I possibly damaging Het
Mief1 T C 15: 80,132,126 (GRCm39) S66P possibly damaging Het
Mmp8 C A 9: 7,567,535 (GRCm39) S465* probably null Het
Muc2 A T 7: 141,287,444 (GRCm39) T208S probably damaging Het
Myh8 A T 11: 67,187,990 (GRCm39) K921* probably null Het
Myh9 T C 15: 77,656,147 (GRCm39) E1121G probably benign Het
Nbn T C 4: 15,969,393 (GRCm39) S213P probably damaging Het
Nol10 A G 12: 17,466,102 (GRCm39) E499G probably benign Het
Nxn T C 11: 76,289,627 (GRCm39) E87G probably damaging Het
Or14c40 A G 7: 86,313,811 (GRCm39) T314A probably benign Het
Or51f2 T A 7: 102,526,892 (GRCm39) C188* probably null Het
Or8g23 T C 9: 38,971,395 (GRCm39) H189R probably benign Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,698,819 (GRCm39) probably benign Het
Pigk A G 3: 152,472,151 (GRCm39) I354M probably damaging Het
Pigl T A 11: 62,349,508 (GRCm39) C75S probably damaging Het
Pm20d1 T A 1: 131,739,852 (GRCm39) I400N probably benign Het
Prkg2 T A 5: 99,172,664 (GRCm39) H17L probably benign Het
Psmd1 T A 1: 86,003,719 (GRCm39) L168Q probably damaging Het
Rab3gap2 A T 1: 185,010,478 (GRCm39) H1136L possibly damaging Het
Rb1 T C 14: 73,532,433 (GRCm39) T134A probably benign Het
Rims1 T C 1: 22,367,220 (GRCm39) E1024G probably damaging Het
Rrp12 A G 19: 41,861,376 (GRCm39) V977A probably benign Het
Rusc2 C T 4: 43,415,212 (GRCm39) P173S probably benign Het
Selenov A T 7: 27,987,447 (GRCm39) D310E probably damaging Het
Serpina3f T A 12: 104,183,582 (GRCm39) L148Q probably damaging Het
Slc10a1 C T 12: 81,007,221 (GRCm39) V187I probably benign Het
Spsb2 A G 6: 124,787,339 (GRCm39) K258E probably damaging Het
Tas2r105 A C 6: 131,664,365 (GRCm39) V21G probably benign Het
Tmem229b-ps T A 10: 53,351,295 (GRCm39) noncoding transcript Het
Trpc2 T A 7: 101,743,780 (GRCm39) F715L probably benign Het
Ube2t T A 1: 134,897,036 (GRCm39) I56N probably benign Het
Ubr4 T C 4: 139,207,963 (GRCm39) Y4915H possibly damaging Het
Usp32 T A 11: 84,930,830 (GRCm39) E533D probably damaging Het
Vipr2 T G 12: 116,086,430 (GRCm39) probably null Het
Vmn1r15 A G 6: 57,235,269 (GRCm39) T46A probably benign Het
Vmn1r203 T G 13: 22,708,617 (GRCm39) S133A possibly damaging Het
Vmn1r215 T G 13: 23,260,378 (GRCm39) N139K probably damaging Het
Vmn1r232 C T 17: 21,133,601 (GRCm39) R333H probably benign Het
Wdr20rt C A 12: 65,273,988 (GRCm39) H311N possibly damaging Het
Zranb1 T C 7: 132,568,425 (GRCm39) probably null Het
Other mutations in Tnrc6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Tnrc6a APN 7 122,770,003 (GRCm39) missense probably benign 0.04
IGL00580:Tnrc6a APN 7 122,773,501 (GRCm39) missense probably damaging 1.00
IGL01309:Tnrc6a APN 7 122,770,717 (GRCm39) missense probably benign 0.04
IGL02004:Tnrc6a APN 7 122,780,589 (GRCm39) missense possibly damaging 0.57
IGL02142:Tnrc6a APN 7 122,751,414 (GRCm39) intron probably benign
IGL02220:Tnrc6a APN 7 122,769,679 (GRCm39) missense probably benign
IGL02436:Tnrc6a APN 7 122,783,438 (GRCm39) nonsense probably null
IGL02670:Tnrc6a APN 7 122,770,535 (GRCm39) missense possibly damaging 0.92
IGL02743:Tnrc6a APN 7 122,770,696 (GRCm39) missense probably damaging 1.00
0152:Tnrc6a UTSW 7 122,779,877 (GRCm39) missense probably damaging 1.00
R0008:Tnrc6a UTSW 7 122,769,617 (GRCm39) missense probably benign 0.00
R0008:Tnrc6a UTSW 7 122,769,617 (GRCm39) missense probably benign 0.00
R0369:Tnrc6a UTSW 7 122,770,083 (GRCm39) missense probably damaging 1.00
R0512:Tnrc6a UTSW 7 122,785,951 (GRCm39) splice site probably benign
R0566:Tnrc6a UTSW 7 122,770,136 (GRCm39) missense probably benign 0.00
R0600:Tnrc6a UTSW 7 122,771,039 (GRCm39) missense probably benign 0.14
R0751:Tnrc6a UTSW 7 122,769,563 (GRCm39) missense possibly damaging 0.73
R1184:Tnrc6a UTSW 7 122,769,563 (GRCm39) missense possibly damaging 0.73
R1319:Tnrc6a UTSW 7 122,783,474 (GRCm39) missense probably benign 0.02
R1405:Tnrc6a UTSW 7 122,770,301 (GRCm39) missense probably damaging 1.00
R1405:Tnrc6a UTSW 7 122,770,301 (GRCm39) missense probably damaging 1.00
R1585:Tnrc6a UTSW 7 122,776,098 (GRCm39) missense probably benign 0.08
R1709:Tnrc6a UTSW 7 122,769,205 (GRCm39) missense probably benign 0.10
R1776:Tnrc6a UTSW 7 122,770,520 (GRCm39) missense probably damaging 1.00
R1791:Tnrc6a UTSW 7 122,792,140 (GRCm39) missense possibly damaging 0.47
R1807:Tnrc6a UTSW 7 122,761,669 (GRCm39) splice site probably benign
R1876:Tnrc6a UTSW 7 122,761,669 (GRCm39) splice site probably benign
R2086:Tnrc6a UTSW 7 122,761,669 (GRCm39) splice site probably benign
R2089:Tnrc6a UTSW 7 122,771,343 (GRCm39) critical splice donor site probably null
R2091:Tnrc6a UTSW 7 122,771,343 (GRCm39) critical splice donor site probably null
R2091:Tnrc6a UTSW 7 122,771,343 (GRCm39) critical splice donor site probably null
R2511:Tnrc6a UTSW 7 122,770,315 (GRCm39) missense probably damaging 1.00
R2830:Tnrc6a UTSW 7 122,792,172 (GRCm39) makesense probably null
R2850:Tnrc6a UTSW 7 122,779,023 (GRCm39) missense probably damaging 1.00
R3916:Tnrc6a UTSW 7 122,780,607 (GRCm39) missense probably damaging 1.00
R4028:Tnrc6a UTSW 7 122,769,344 (GRCm39) missense probably damaging 1.00
R4235:Tnrc6a UTSW 7 122,770,903 (GRCm39) missense probably benign 0.00
R4439:Tnrc6a UTSW 7 122,751,405 (GRCm39) nonsense probably null
R4525:Tnrc6a UTSW 7 122,779,005 (GRCm39) missense probably benign
R4578:Tnrc6a UTSW 7 122,783,444 (GRCm39) missense possibly damaging 0.89
R4613:Tnrc6a UTSW 7 122,783,512 (GRCm39) critical splice donor site probably null
R4711:Tnrc6a UTSW 7 122,770,301 (GRCm39) missense probably damaging 1.00
R4722:Tnrc6a UTSW 7 122,791,313 (GRCm39) missense possibly damaging 0.78
R4746:Tnrc6a UTSW 7 122,789,220 (GRCm39) missense probably damaging 1.00
R4892:Tnrc6a UTSW 7 122,769,134 (GRCm39) missense probably damaging 1.00
R4942:Tnrc6a UTSW 7 122,791,836 (GRCm39) missense probably damaging 0.99
R4967:Tnrc6a UTSW 7 122,789,095 (GRCm39) missense probably damaging 1.00
R5064:Tnrc6a UTSW 7 122,785,946 (GRCm39) critical splice donor site probably null
R5239:Tnrc6a UTSW 7 122,785,842 (GRCm39) missense probably benign
R5604:Tnrc6a UTSW 7 122,773,459 (GRCm39) missense probably damaging 0.97
R5805:Tnrc6a UTSW 7 122,769,299 (GRCm39) missense probably damaging 0.97
R5942:Tnrc6a UTSW 7 122,785,888 (GRCm39) missense probably damaging 1.00
R5988:Tnrc6a UTSW 7 122,781,603 (GRCm39) missense probably damaging 0.96
R6212:Tnrc6a UTSW 7 122,742,965 (GRCm39) splice site probably null
R6284:Tnrc6a UTSW 7 122,770,558 (GRCm39) missense probably damaging 0.99
R6417:Tnrc6a UTSW 7 122,770,297 (GRCm39) missense probably benign 0.01
R6420:Tnrc6a UTSW 7 122,770,297 (GRCm39) missense probably benign 0.01
R6575:Tnrc6a UTSW 7 122,769,133 (GRCm39) missense probably damaging 1.00
R6760:Tnrc6a UTSW 7 122,771,222 (GRCm39) missense probably damaging 1.00
R6886:Tnrc6a UTSW 7 122,786,668 (GRCm39) missense probably benign 0.17
R6968:Tnrc6a UTSW 7 122,781,650 (GRCm39) missense probably benign 0.05
R7216:Tnrc6a UTSW 7 122,770,718 (GRCm39) missense probably benign 0.01
R7260:Tnrc6a UTSW 7 122,785,813 (GRCm39) missense probably benign 0.36
R7299:Tnrc6a UTSW 7 122,770,136 (GRCm39) missense probably benign
R7322:Tnrc6a UTSW 7 122,770,731 (GRCm39) missense probably benign 0.09
R7500:Tnrc6a UTSW 7 122,772,673 (GRCm39) splice site probably null
R7872:Tnrc6a UTSW 7 122,779,057 (GRCm39) missense probably damaging 0.99
R8270:Tnrc6a UTSW 7 122,769,294 (GRCm39) missense possibly damaging 0.92
R8313:Tnrc6a UTSW 7 122,769,936 (GRCm39) missense possibly damaging 0.92
R8348:Tnrc6a UTSW 7 122,791,346 (GRCm39) missense possibly damaging 0.65
R8390:Tnrc6a UTSW 7 122,761,794 (GRCm39) missense probably damaging 0.97
R8448:Tnrc6a UTSW 7 122,791,346 (GRCm39) missense possibly damaging 0.65
R8514:Tnrc6a UTSW 7 122,783,438 (GRCm39) nonsense probably null
R8552:Tnrc6a UTSW 7 122,761,669 (GRCm39) splice site probably benign
R8767:Tnrc6a UTSW 7 122,783,133 (GRCm39) unclassified probably benign
R9047:Tnrc6a UTSW 7 122,778,946 (GRCm39) missense probably damaging 1.00
R9147:Tnrc6a UTSW 7 122,785,667 (GRCm39) intron probably benign
R9153:Tnrc6a UTSW 7 122,773,519 (GRCm39) missense probably damaging 1.00
R9166:Tnrc6a UTSW 7 122,786,624 (GRCm39) missense probably damaging 1.00
R9179:Tnrc6a UTSW 7 122,791,881 (GRCm39) missense probably benign 0.44
R9192:Tnrc6a UTSW 7 122,789,176 (GRCm39) missense probably damaging 1.00
R9457:Tnrc6a UTSW 7 122,778,958 (GRCm39) missense probably benign 0.24
R9778:Tnrc6a UTSW 7 122,769,635 (GRCm39) missense probably benign 0.43
X0064:Tnrc6a UTSW 7 122,769,021 (GRCm39) missense probably benign 0.28
Z1176:Tnrc6a UTSW 7 122,761,719 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAAGACGATCAGGGTTCTGC -3'
(R):5'- CCACCCTGATACAGATGAGGTATC -3'

Sequencing Primer
(F):5'- AGGGTTCTGCCACATCTCAGAC -3'
(R):5'- CATGCCCCTGAGTTAAAAGTCTGTG -3'
Posted On 2014-08-25