Incidental Mutation 'R7260:Tnrc6a'
ID 564538
Institutional Source Beutler Lab
Gene Symbol Tnrc6a
Ensembl Gene ENSMUSG00000052707
Gene Name trinucleotide repeat containing 6a
Synonyms 3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik
MMRRC Submission 045352-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.879) question?
Stock # R7260 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 122723108-122794519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122785813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1502 (E1502G)
Ref Sequence ENSEMBL: ENSMUSP00000091595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094053] [ENSMUST00000205514]
AlphaFold Q3UHK8
Predicted Effect probably benign
Transcript: ENSMUST00000094053
AA Change: E1502G

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: E1502G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (78/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A G 10: 28,849,882 (GRCm39) S293P probably benign Het
Actn2 T C 13: 12,291,376 (GRCm39) N676S probably benign Het
Amfr C T 8: 94,702,776 (GRCm39) M463I possibly damaging Het
Ankdd1a G T 9: 65,411,834 (GRCm39) A325D probably damaging Het
Apba2 A G 7: 64,389,493 (GRCm39) D463G probably damaging Het
Arid5b A G 10: 67,933,637 (GRCm39) V755A probably damaging Het
Boc A T 16: 44,310,533 (GRCm39) F796I Het
Ccnt1 G A 15: 98,463,005 (GRCm39) Q56* probably null Het
Cd248 T A 19: 5,119,383 (GRCm39) Y410* probably null Het
Chd9 T A 8: 91,721,171 (GRCm39) N986K unknown Het
Col6a6 T C 9: 105,661,168 (GRCm39) T314A probably benign Het
Cpped1 A G 16: 11,646,327 (GRCm39) F142L possibly damaging Het
Csmd1 C T 8: 16,050,574 (GRCm39) A2221T probably damaging Het
Cyp2c69 C A 19: 39,831,344 (GRCm39) V490L probably benign Het
Cyrib A T 15: 63,829,438 (GRCm39) F23L possibly damaging Het
Dcst2 T C 3: 89,273,593 (GRCm39) F157S probably damaging Het
Ddx54 G T 5: 120,764,985 (GRCm39) R788L probably benign Het
Dnah1 T C 14: 30,991,343 (GRCm39) Y3145C probably damaging Het
Dnah14 A T 1: 181,534,309 (GRCm39) R2320W probably damaging Het
Dnai3 T A 3: 145,752,295 (GRCm39) M794L probably benign Het
Emilin2 T C 17: 71,581,785 (GRCm39) T314A probably benign Het
Eml2 A G 7: 18,934,515 (GRCm39) S405G probably benign Het
Ephb2 A G 4: 136,498,885 (GRCm39) F65L probably damaging Het
Fbn2 T C 18: 58,199,188 (GRCm39) D1360G probably benign Het
Fbxo22 A G 9: 55,125,754 (GRCm39) T206A probably benign Het
Filip1l A G 16: 57,391,287 (GRCm39) E625G probably damaging Het
Gen1 A C 12: 11,306,849 (GRCm39) M172R probably damaging Het
Gk5 A G 9: 96,001,663 (GRCm39) K54E probably benign Het
Glis3 T C 19: 28,508,802 (GRCm39) E394G probably benign Het
Helq T A 5: 100,939,793 (GRCm39) E373D probably damaging Het
Ighv1-74 A G 12: 115,766,372 (GRCm39) F83L probably benign Het
Ints15 A G 5: 143,297,594 (GRCm39) V151A probably benign Het
Iqcn T C 8: 71,161,397 (GRCm39) Y197H probably benign Het
Kdm4d T C 9: 14,374,454 (GRCm39) D468G probably benign Het
Kif20b A G 19: 34,927,610 (GRCm39) I957M probably damaging Het
Ldhal6b A G 17: 5,468,535 (GRCm39) F133S possibly damaging Het
Loxhd1 T C 18: 77,420,338 (GRCm39) Y321H possibly damaging Het
Ltbp1 A T 17: 75,373,139 (GRCm39) M261L probably benign Het
Mical2 A T 7: 111,919,001 (GRCm39) Q430L probably benign Het
Mroh4 A T 15: 74,479,978 (GRCm39) N885K possibly damaging Het
Ms4a7 A G 19: 11,299,710 (GRCm39) Y231H probably damaging Het
Msh2 G T 17: 88,025,047 (GRCm39) V642F probably damaging Het
Muc5b G T 7: 141,396,385 (GRCm39) A166S unknown Het
Myo18b T C 5: 112,923,154 (GRCm39) I1868V probably benign Het
Nfatc3 T C 8: 106,835,578 (GRCm39) S975P probably benign Het
Oacyl T C 18: 65,831,438 (GRCm39) L25P probably damaging Het
Or12e10 A G 2: 87,640,731 (GRCm39) N189S probably damaging Het
Or5b109 T C 19: 13,212,388 (GRCm39) F258S probably damaging Het
Or5w15 T C 2: 87,568,852 (GRCm39) probably null Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or8a1 T A 9: 37,642,049 (GRCm39) I77F probably damaging Het
Patj A G 4: 98,304,970 (GRCm39) I275V possibly damaging Het
Pdcd11 G A 19: 47,117,673 (GRCm39) R1674Q possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phkb T A 8: 86,604,759 (GRCm39) Y55N probably benign Het
Pias4 A G 10: 80,993,302 (GRCm39) V207A possibly damaging Het
Plxna4 C A 6: 32,216,455 (GRCm39) R540L possibly damaging Het
Psapl1 G A 5: 36,362,556 (GRCm39) V383M probably benign Het
Rars1 C A 11: 35,725,281 (GRCm39) A10S probably benign Het
Rhobtb1 A T 10: 69,106,610 (GRCm39) K454* probably null Het
Rmnd1 A T 10: 4,364,803 (GRCm39) probably null Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Rngtt T C 4: 33,356,176 (GRCm39) S338P possibly damaging Het
Sh3bgr A G 16: 96,025,681 (GRCm39) E189G unknown Het
Slc30a3 G A 5: 31,245,690 (GRCm39) T281I probably damaging Het
Smok3c T A 5: 138,063,885 (GRCm39) D457E possibly damaging Het
Stard9 C A 2: 120,537,419 (GRCm39) Q4274K possibly damaging Het
Syne2 G T 12: 75,991,853 (GRCm39) L1938F probably damaging Het
Tmem70 C A 1: 16,735,590 (GRCm39) T20K possibly damaging Het
Tpp1 A T 7: 105,396,704 (GRCm39) S438T probably benign Het
Tubb2a T A 13: 34,259,397 (GRCm39) Q131L probably damaging Het
Ube2v1 A G 2: 167,471,114 (GRCm39) S26P probably benign Het
Unc13a G T 8: 72,113,229 (GRCm39) S207R possibly damaging Het
Usp35 T G 7: 96,969,286 (GRCm39) D362A probably damaging Het
Utp20 A G 10: 88,587,334 (GRCm39) I2487T probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r117 T A 17: 23,694,359 (GRCm39) H496L probably benign Het
Vmn2r92 C T 17: 18,387,138 (GRCm39) A159V probably damaging Het
Wiz T C 17: 32,578,085 (GRCm39) K467E probably damaging Het
Zfp534 T C 4: 147,759,461 (GRCm39) T403A probably benign Het
Zswim5 T C 4: 116,819,843 (GRCm39) L416P 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
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
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
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'- TCTGTCAGGGAGCAGAGTAC -3'
(R):5'- TCCACTGCATCACATCAGCG -3'

Sequencing Primer
(F):5'- AGAGTACTGCTTTTTCTCTTGCATC -3'
(R):5'- CAGAACCCTGTTAAGCTATGGCTG -3'
Posted On 2019-06-26