Incidental Mutation 'IGL01309:Tnrc6a'
ID73577
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnrc6a
Ensembl Gene ENSMUSG00000052707
Gene Nametrinucleotide repeat containing 6a
SynonymsCAGH26, 2010321I05Rik, Tnrc6, 3110054G10Rik, D130023A07Rik
Accession Numbers

Genbank: NM_144925; MGI: 2385292

Is this an essential gene? Probably essential (E-score: 0.820) question?
Stock #IGL01309
Quality Score
Status
Chromosome7
Chromosomal Location123123885-123195296 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 123171494 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 836 (I836F)
Ref Sequence ENSEMBL: ENSMUSP00000091595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094053] [ENSMUST00000205514] [ENSMUST00000206014] [ENSMUST00000206888]
Predicted Effect probably benign
Transcript: ENSMUST00000094053
AA Change: I836F

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: I836F

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 unknown
Transcript: ENSMUST00000205760
AA Change: I288F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205789
Predicted Effect probably benign
Transcript: ENSMUST00000206014
Predicted Effect probably benign
Transcript: ENSMUST00000206888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211170
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik A G 16: 17,113,546 V275A possibly damaging Het
Adamts2 A G 11: 50,803,701 D1105G probably benign Het
Adgrb3 T A 1: 25,112,271 M195L possibly damaging Het
Adrm1 A G 2: 180,175,963 probably benign Het
Atg13 T A 2: 91,678,831 I457F possibly damaging Het
BC034090 T C 1: 155,226,384 N45D probably damaging Het
C3 C T 17: 57,209,652 probably benign Het
Cacna1a G A 8: 84,523,028 G221D probably damaging Het
Calr A G 8: 84,846,706 probably null Het
Chd3 C T 11: 69,357,731 V825I probably damaging Het
Chdh T G 14: 30,035,804 probably benign Het
Ckap5 T C 2: 91,570,184 V627A probably damaging Het
Commd3 A G 2: 18,672,478 E5G probably benign Het
Ddi1 T C 9: 6,265,773 R199G probably damaging Het
Dennd4c A G 4: 86,805,487 probably benign Het
Dok7 G A 5: 35,079,568 G293D possibly damaging Het
Epm2aip1 T C 9: 111,273,528 V523A probably benign Het
Fam171b C T 2: 83,879,447 Q488* probably null Het
Gabbr1 G A 17: 37,048,607 probably null Het
Gm5965 T G 16: 88,778,331 S131A possibly damaging Het
Gpcpd1 T C 2: 132,550,324 D235G probably damaging Het
Grip1 A T 10: 119,931,302 K111* probably null Het
Itih4 G T 14: 30,891,749 D308Y probably damaging Het
Kcnj6 A G 16: 94,832,455 Y266H probably damaging Het
Lrrc41 T C 4: 116,096,466 L783P probably damaging Het
Map4k5 T C 12: 69,841,963 D298G probably benign Het
Mapkbp1 T C 2: 120,018,942 F712L probably damaging Het
Mcoln2 T C 3: 146,163,527 probably benign Het
Megf11 T A 9: 64,681,416 S532R probably benign Het
Mkx T C 18: 6,937,192 D284G probably benign Het
Mmp16 A G 4: 18,116,185 I596M probably damaging Het
Msto1 C A 3: 88,913,686 R34L probably benign Het
Mtmr9 A G 14: 63,526,805 L491P probably damaging Het
Olfr1196 T G 2: 88,700,966 Y121S probably damaging Het
Olfr12 T C 1: 92,620,335 M143T probably damaging Het
Olfr917 T A 9: 38,664,993 I284L probably benign Het
Otor T C 2: 143,078,612 V38A possibly damaging Het
Pcdhb12 G T 18: 37,436,154 D118Y probably damaging Het
Prelp T C 1: 133,914,807 H200R probably benign Het
Prmt5 T C 14: 54,509,877 Y481C probably damaging Het
Psg23 T G 7: 18,614,540 D114A probably damaging Het
Ptger4 A T 15: 5,242,758 Y127N probably damaging Het
Rabgap1l C A 1: 160,700,798 V385L probably benign Het
Rergl T A 6: 139,493,258 K191* probably null Het
Sart3 A G 5: 113,759,250 F252S probably damaging Het
Sbno1 A T 5: 124,381,706 S1169T probably benign Het
Serpinb8 C T 1: 107,604,718 T180M probably damaging Het
Sipa1l1 G A 12: 82,387,696 E747K probably benign Het
Sptb T A 12: 76,587,463 D2158V probably benign Het
Sycp2 T G 2: 178,358,111 D1024A probably benign Het
Tbr1 T G 2: 61,806,067 N262K possibly damaging Het
Ttn T C 2: 76,938,747 E2823G probably damaging Het
Uqcrc1 T A 9: 108,948,958 L441Q possibly damaging Het
Vmn1r180 T C 7: 23,952,999 F196L probably damaging Het
Vmn2r111 T C 17: 22,569,016 I451M possibly damaging Het
Zcchc7 A T 4: 44,926,060 H353L probably damaging Het
Other mutations in Tnrc6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00335:Tnrc6a APN 7 123170780 missense probably benign 0.04
IGL00580:Tnrc6a APN 7 123174278 missense probably damaging 1.00
IGL02004:Tnrc6a APN 7 123181366 missense possibly damaging 0.57
IGL02142:Tnrc6a APN 7 123152191 intron probably benign
IGL02220:Tnrc6a APN 7 123170456 missense probably benign
IGL02436:Tnrc6a APN 7 123184215 nonsense probably null
IGL02670:Tnrc6a APN 7 123171312 missense possibly damaging 0.92
IGL02743:Tnrc6a APN 7 123171473 missense probably damaging 1.00
0152:Tnrc6a UTSW 7 123180654 missense probably damaging 1.00
R0008:Tnrc6a UTSW 7 123170394 missense probably benign 0.00
R0008:Tnrc6a UTSW 7 123170394 missense probably benign 0.00
R0369:Tnrc6a UTSW 7 123170860 missense probably damaging 1.00
R0512:Tnrc6a UTSW 7 123186728 splice site probably benign
R0566:Tnrc6a UTSW 7 123170913 missense probably benign 0.00
R0600:Tnrc6a UTSW 7 123171816 missense probably benign 0.14
R0751:Tnrc6a UTSW 7 123170340 missense possibly damaging 0.73
R1184:Tnrc6a UTSW 7 123170340 missense possibly damaging 0.73
R1319:Tnrc6a UTSW 7 123184251 missense probably benign 0.02
R1405:Tnrc6a UTSW 7 123171078 missense probably damaging 1.00
R1405:Tnrc6a UTSW 7 123171078 missense probably damaging 1.00
R1585:Tnrc6a UTSW 7 123176875 missense probably benign 0.08
R1709:Tnrc6a UTSW 7 123169982 missense probably benign 0.10
R1776:Tnrc6a UTSW 7 123171297 missense probably damaging 1.00
R1791:Tnrc6a UTSW 7 123192917 missense possibly damaging 0.47
R1807:Tnrc6a UTSW 7 123162446 splice site probably benign
R1876:Tnrc6a UTSW 7 123162446 splice site probably benign
R2010:Tnrc6a UTSW 7 123171046 missense probably benign 0.26
R2086:Tnrc6a UTSW 7 123162446 splice site probably benign
R2089:Tnrc6a UTSW 7 123172120 critical splice donor site probably null
R2091:Tnrc6a UTSW 7 123172120 critical splice donor site probably null
R2091:Tnrc6a UTSW 7 123172120 critical splice donor site probably null
R2511:Tnrc6a UTSW 7 123171092 missense probably damaging 1.00
R2830:Tnrc6a UTSW 7 123192949 makesense probably null
R2850:Tnrc6a UTSW 7 123179800 missense probably damaging 1.00
R3916:Tnrc6a UTSW 7 123181384 missense probably damaging 1.00
R4028:Tnrc6a UTSW 7 123170121 missense probably damaging 1.00
R4235:Tnrc6a UTSW 7 123171680 missense probably benign 0.00
R4439:Tnrc6a UTSW 7 123152182 nonsense probably null
R4525:Tnrc6a UTSW 7 123179782 missense probably benign
R4578:Tnrc6a UTSW 7 123184221 missense possibly damaging 0.89
R4613:Tnrc6a UTSW 7 123184289 critical splice donor site probably null
R4711:Tnrc6a UTSW 7 123171078 missense probably damaging 1.00
R4722:Tnrc6a UTSW 7 123192090 missense possibly damaging 0.78
R4746:Tnrc6a UTSW 7 123189997 missense probably damaging 1.00
R4892:Tnrc6a UTSW 7 123169911 missense probably damaging 1.00
R4942:Tnrc6a UTSW 7 123192613 missense probably damaging 0.99
R4967:Tnrc6a UTSW 7 123189872 missense probably damaging 1.00
R5064:Tnrc6a UTSW 7 123186723 critical splice donor site probably null
R5239:Tnrc6a UTSW 7 123186619 missense probably benign
R5604:Tnrc6a UTSW 7 123174236 missense probably damaging 0.97
R5805:Tnrc6a UTSW 7 123170076 missense probably damaging 0.97
R5942:Tnrc6a UTSW 7 123186665 missense probably damaging 1.00
R5988:Tnrc6a UTSW 7 123182380 missense probably damaging 0.96
R6212:Tnrc6a UTSW 7 123143742 splice site probably null
R6284:Tnrc6a UTSW 7 123171335 missense probably damaging 0.99
R6417:Tnrc6a UTSW 7 123171074 missense probably benign 0.01
R6420:Tnrc6a UTSW 7 123171074 missense probably benign 0.01
R6575:Tnrc6a UTSW 7 123169910 missense probably damaging 1.00
R6760:Tnrc6a UTSW 7 123171999 missense probably damaging 1.00
R6886:Tnrc6a UTSW 7 123187445 missense probably benign 0.17
R6968:Tnrc6a UTSW 7 123182427 missense probably benign 0.05
R7216:Tnrc6a UTSW 7 123171495 missense probably benign 0.01
R7260:Tnrc6a UTSW 7 123186590 missense probably benign 0.36
R7299:Tnrc6a UTSW 7 123170913 missense probably benign
R7322:Tnrc6a UTSW 7 123171508 missense probably benign 0.09
R7500:Tnrc6a UTSW 7 123173450 intron probably null
R7872:Tnrc6a UTSW 7 123179834 missense probably damaging 0.99
R7955:Tnrc6a UTSW 7 123179834 missense probably damaging 0.99
X0064:Tnrc6a UTSW 7 123169798 missense probably benign 0.28
Z1176:Tnrc6a UTSW 7 123162496 missense probably damaging 1.00
Posted On2013-10-07