Incidental Mutation 'R4578:Tnrc6a'
ID 343417
Institutional Source Beutler Lab
Gene Symbol Tnrc6a
Ensembl Gene ENSMUSG00000052707
Gene Name trinucleotide repeat containing 6a
Synonyms 3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik
MMRRC Submission 041800-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R4578 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 122723108-122794519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122783444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 1471 (R1471G)
Ref Sequence ENSEMBL: ENSMUSP00000091595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094053] [ENSMUST00000205514] [ENSMUST00000206014]
AlphaFold Q3UHK8
Predicted Effect possibly damaging
Transcript: ENSMUST00000094053
AA Change: R1471G

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: R1471G

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 probably benign
Transcript: ENSMUST00000205514
Predicted Effect unknown
Transcript: ENSMUST00000205760
AA Change: R972G
Predicted Effect probably benign
Transcript: ENSMUST00000206014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206126
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,537 (GRCm39) Y440* probably null Het
Aldh3b3 A T 19: 4,014,832 (GRCm39) T110S probably benign Het
Atp2b2 T C 6: 113,737,672 (GRCm39) T901A probably damaging Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
Bfar A T 16: 13,505,307 (GRCm39) I106F probably benign Het
Btbd10 T G 7: 112,921,959 (GRCm39) I301L possibly damaging Het
Card14 G A 11: 119,217,567 (GRCm39) R400H probably benign Het
Ccdc80 A G 16: 44,915,849 (GRCm39) R202G probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Cmtm7 A C 9: 114,592,351 (GRCm39) I82S probably benign Het
Cngb3 T A 4: 19,425,613 (GRCm39) W474R probably damaging Het
Coq9 T C 8: 95,580,234 (GRCm39) V285A probably benign Het
Cp A G 3: 20,028,052 (GRCm39) E486G probably damaging Het
Crybg3 C T 16: 59,350,564 (GRCm39) C892Y probably damaging Het
Cttn A T 7: 144,008,453 (GRCm39) F176L probably damaging Het
Cytip T A 2: 58,050,024 (GRCm39) N15I possibly damaging Het
Dgkb A G 12: 38,477,492 (GRCm39) E634G possibly damaging Het
Duox1 A G 2: 122,164,258 (GRCm39) E906G probably benign Het
Efcab6 A T 15: 83,817,369 (GRCm39) S735T probably benign Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Ep300 T C 15: 81,533,210 (GRCm39) S1756P unknown Het
Ep300 T A 15: 81,495,611 (GRCm39) probably benign Het
Ercc5 T A 1: 44,187,308 (GRCm39) V29E probably benign Het
Frmd4a C A 2: 4,608,490 (GRCm39) A786E possibly damaging Het
Ftcd A C 10: 76,425,092 (GRCm39) E524D probably benign Het
Gfod2 T C 8: 106,454,878 (GRCm39) M1V probably null Het
Gm12790 T C 4: 101,825,324 (GRCm39) D30G probably benign Het
Gsta4 A T 9: 78,113,302 (GRCm39) R127S probably benign Het
Hcn2 G A 10: 79,560,282 (GRCm39) probably null Het
Hectd1 A G 12: 51,798,715 (GRCm39) V2135A probably damaging Het
Hoxc6 A G 15: 102,918,093 (GRCm39) D19G probably benign Het
Hydin A T 8: 110,993,971 (GRCm39) T2S unknown Het
Ifna14 A T 4: 88,489,747 (GRCm39) S97T possibly damaging Het
Igkv17-127 T C 6: 67,838,183 (GRCm39) L14P unknown Het
Il17rb A G 14: 29,724,356 (GRCm39) V166A probably damaging Het
Iqca1 T A 1: 90,001,472 (GRCm39) I520F probably damaging Het
Kcnv2 G T 19: 27,300,994 (GRCm39) V282L probably benign Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Lrfn5 A G 12: 61,890,763 (GRCm39) D684G probably benign Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mis18bp1 T C 12: 65,200,655 (GRCm39) Y124C probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myh2 T A 11: 67,064,084 (GRCm39) V48D possibly damaging Het
Nat10 A G 2: 103,584,417 (GRCm39) M120T probably damaging Het
Nf1 T C 11: 79,336,585 (GRCm39) S1065P probably damaging Het
Nfib A T 4: 82,215,048 (GRCm39) S518R probably damaging Het
Pced1a A C 2: 130,264,596 (GRCm39) L78R probably damaging Het
Peli3 T C 19: 4,984,486 (GRCm39) D192G probably benign Het
Plb1 C T 5: 32,404,901 (GRCm39) Q20* probably null Het
Pomgnt2 G A 9: 121,812,131 (GRCm39) R217C probably damaging Het
Ptprd C T 4: 76,162,023 (GRCm39) V78I possibly damaging Het
Rngtt A G 4: 33,339,050 (GRCm39) E285G probably benign Het
Sclt1 G A 3: 41,625,900 (GRCm39) Q356* probably null Het
Scn2b T C 9: 45,037,460 (GRCm39) F169S possibly damaging Het
Sfta2 C T 17: 35,960,775 (GRCm39) probably benign Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Sspo A C 6: 48,440,307 (GRCm39) D1541A possibly damaging Het
Strc G A 2: 121,208,484 (GRCm39) L296F possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Taf6l C A 19: 8,761,335 (GRCm39) R10L possibly damaging Het
Tbx3 G T 5: 119,820,841 (GRCm39) R617L probably damaging Het
Togaram1 T C 12: 65,067,100 (GRCm39) L1714P probably damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Vcp A T 4: 42,984,565 (GRCm39) M442K probably benign Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly damaging Het
Vmn2r52 A T 7: 9,904,617 (GRCm39) H407Q probably damaging Het
Vps13a A T 19: 16,659,474 (GRCm39) D1684E probably damaging Het
Wdr49 T C 3: 75,242,550 (GRCm39) M380V probably benign 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
R2010:Tnrc6a UTSW 7 122,770,269 (GRCm39) missense probably benign 0.26
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
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'- TAGCATAGCTACAAGCCAGGC -3'
(R):5'- AACTCCTGAGCATCTCTTTAGC -3'

Sequencing Primer
(F):5'- TACAAGCCAGGCCCCTG -3'
(R):5'- ACAAGTTGGGGAAGTGGTTC -3'
Posted On 2015-09-24