Incidental Mutation 'R1776:Tnrc6a'
ID 197024
Institutional Source Beutler Lab
Gene Symbol Tnrc6a
Ensembl Gene ENSMUSG00000052707
Gene Name trinucleotide repeat containing 6a
Synonyms 3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik
MMRRC Submission 039807-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R1776 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 122723108-122794519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122770520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 222 (D222G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094053] [ENSMUST00000205514] [ENSMUST00000206014] [ENSMUST00000206888]
AlphaFold Q3UHK8
Predicted Effect probably damaging
Transcript: ENSMUST00000094053
AA Change: D770G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: D770G

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 damaging
Transcript: ENSMUST00000205760
AA Change: D222G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205789
Predicted Effect probably benign
Transcript: ENSMUST00000206014
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211170
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206922
Predicted Effect probably benign
Transcript: ENSMUST00000206888
Meta Mutation Damage Score 0.0798 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.3%
Validation Efficiency 98% (86/88)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T C 10: 70,711,058 (GRCm39) noncoding transcript Het
9430097D07Rik T C 2: 32,464,767 (GRCm39) probably benign Het
A2m C G 6: 121,618,383 (GRCm39) F225L probably damaging Het
Adamts19 T A 18: 59,087,692 (GRCm39) I574N probably damaging Het
Ankfn1 T C 11: 89,417,300 (GRCm39) D104G possibly damaging Het
Ankhd1 T A 18: 36,780,361 (GRCm39) N1804K probably benign Het
Ankle1 G T 8: 71,861,918 (GRCm39) V474F probably damaging Het
Arfgap3 A G 15: 83,227,340 (GRCm39) V24A probably benign Het
Asph A T 4: 9,598,773 (GRCm39) S149R probably damaging Het
Cass4 A T 2: 172,269,615 (GRCm39) I568L probably benign Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdx1 G A 18: 61,169,086 (GRCm39) A36V probably benign Het
Cep57 A T 9: 13,730,170 (GRCm39) S123T probably damaging Het
Clca3a2 T A 3: 144,519,681 (GRCm39) Q231L probably damaging Het
Clcnkb T C 4: 141,142,500 (GRCm39) probably benign Het
Crabp2 C A 3: 87,860,301 (GRCm39) T125K probably benign Het
Dennd3 A G 15: 73,426,950 (GRCm39) T776A possibly damaging Het
Dnajb6 T C 5: 29,990,091 (GRCm39) probably benign Het
Dsp T A 13: 38,380,593 (GRCm39) I1847N probably damaging Het
Dync1h1 T C 12: 110,599,362 (GRCm39) probably benign Het
Ecpas A G 4: 58,879,100 (GRCm39) I63T probably damaging Het
Fbn1 A C 2: 125,163,654 (GRCm39) F2067L possibly damaging Het
Fbxo16 T A 14: 65,532,835 (GRCm39) probably null Het
Gm3604 C A 13: 62,517,888 (GRCm39) G157* probably null Het
Gm5250 A G 1: 13,132,564 (GRCm39) noncoding transcript Het
Gpam A G 19: 55,067,007 (GRCm39) S503P possibly damaging Het
Herc4 T A 10: 63,099,950 (GRCm39) C124* probably null Het
Ift27 T C 15: 78,050,181 (GRCm39) D76G probably null Het
Igdcc3 C T 9: 65,090,034 (GRCm39) Q550* probably null Het
Igsf6 T A 7: 120,667,522 (GRCm39) I165F probably damaging Het
Il31ra T C 13: 112,677,773 (GRCm39) I173M probably damaging Het
Kbtbd6 G A 14: 79,690,045 (GRCm39) D247N probably benign Het
Kcnq2 T A 2: 180,742,350 (GRCm39) T394S probably benign Het
Mia2 A G 12: 59,196,361 (GRCm39) probably benign Het
Mvp T C 7: 126,591,933 (GRCm39) Q419R probably benign Het
Mylk A G 16: 34,773,152 (GRCm39) D1250G probably benign Het
Necab1 A G 4: 15,111,267 (GRCm39) Y54H probably damaging Het
Nlk T A 11: 78,477,853 (GRCm39) M297L probably benign Het
Nsl1 G T 1: 190,795,385 (GRCm39) M50I probably benign Het
Numa1 A G 7: 101,660,257 (GRCm39) T441A probably damaging Het
Ofd1 A G X: 165,189,002 (GRCm39) Y755H probably benign Het
Or10d1c G A 9: 38,894,190 (GRCm39) S50F probably damaging Het
Or6c69b C T 10: 129,627,000 (GRCm39) V153I probably benign Het
Or8b12i G A 9: 20,082,105 (GRCm39) T254I probably benign Het
Ovgp1 A T 3: 105,885,114 (GRCm39) H151L possibly damaging Het
Pigz G A 16: 31,763,397 (GRCm39) E152K probably damaging Het
Plxna1 A T 6: 89,312,446 (GRCm39) D779E probably benign Het
Ppil4 A T 10: 7,686,201 (GRCm39) E353V probably benign Het
Ptprq C T 10: 107,520,950 (GRCm39) G741S probably damaging Het
Rplp0 T C 5: 115,700,524 (GRCm39) Y231H probably benign Het
Rps24 A G 14: 24,541,830 (GRCm39) T6A probably damaging Het
Rundc3b T C 5: 8,629,050 (GRCm39) E117G probably damaging Het
Ryr2 A C 13: 11,760,062 (GRCm39) probably null Het
Ryr3 A T 2: 112,787,598 (GRCm39) M198K probably damaging Het
Sdhd T C 9: 50,508,500 (GRCm39) K122R probably benign Het
Senp2 T C 16: 21,861,810 (GRCm39) probably benign Het
Setd3 C A 12: 108,131,420 (GRCm39) G2V probably damaging Het
Sfxn5 A G 6: 85,244,927 (GRCm39) probably benign Het
She T A 3: 89,739,345 (GRCm39) S179T possibly damaging Het
Slc24a2 G A 4: 87,094,526 (GRCm39) T331I probably benign Het
Slc45a3 T C 1: 131,904,694 (GRCm39) W6R possibly damaging Het
Slc9a4 T C 1: 40,668,447 (GRCm39) S697P probably benign Het
Soat1 C T 1: 156,269,991 (GRCm39) V143I probably benign Het
Sp8 T A 12: 118,813,302 (GRCm39) F386I probably damaging Het
Spata31d1b A G 13: 59,864,381 (GRCm39) T510A probably benign Het
Srgap2 T A 1: 131,339,588 (GRCm39) I125F probably damaging Het
Stab2 T A 10: 86,793,680 (GRCm39) I472F possibly damaging Het
Taar7f C T 10: 23,925,546 (GRCm39) R47C probably benign Het
Tbc1d19 T A 5: 54,046,653 (GRCm39) probably null Het
Tbc1d21 T A 9: 58,274,011 (GRCm39) probably benign Het
Tcaf1 A G 6: 42,655,389 (GRCm39) I529T possibly damaging Het
Tgfbr2 A T 9: 116,004,035 (GRCm39) I24N possibly damaging Het
Tgm1 T C 14: 55,946,854 (GRCm39) T385A probably damaging Het
Tgm2 T C 2: 157,973,379 (GRCm39) N244S probably benign Het
Thoc5 T C 11: 4,864,517 (GRCm39) probably benign Het
Tmc2 A T 2: 130,076,789 (GRCm39) I372F probably damaging Het
Trhde T G 10: 114,636,508 (GRCm39) N233T probably benign Het
Tstd3 T C 4: 21,759,475 (GRCm39) Y99C probably damaging Het
Ttc22 A T 4: 106,496,237 (GRCm39) D429V possibly damaging Het
Ugcg A G 4: 59,207,775 (GRCm39) N38S probably benign Het
Ush2a A G 1: 188,460,400 (GRCm39) I2554V possibly damaging Het
Usp16 A G 16: 87,276,204 (GRCm39) D513G probably damaging Het
Vip T C 10: 5,594,992 (GRCm39) probably null Het
Vmn1r4 A G 6: 56,934,023 (GRCm39) I176V probably benign Het
Zfp804b T C 5: 6,819,806 (GRCm39) T1050A probably damaging 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
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
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'- ACTGCCTGGGATACAGAGACATCAC -3'
(R):5'- TCACCCCAATGGTTACTCCTGGAAG -3'

Sequencing Primer
(F):5'- ATACAGAGACATCACCAAGAGG -3'
(R):5'- AATGGACCAACCTTGGCTTG -3'
Posted On 2014-05-23