Incidental Mutation 'R7872:Tnrc6a'
ID 608182
Institutional Source Beutler Lab
Gene Symbol Tnrc6a
Ensembl Gene ENSMUSG00000052707
Gene Name trinucleotide repeat containing 6a
Synonyms 3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik
MMRRC Submission 045924-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.850) question?
Stock # R7872 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 122723108-122794519 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122779057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1256 (M1256K)
Ref Sequence ENSEMBL: ENSMUSP00000091595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094053] [ENSMUST00000205514] [ENSMUST00000206014] [ENSMUST00000206888]
AlphaFold Q3UHK8
Predicted Effect probably damaging
Transcript: ENSMUST00000094053
AA Change: M1256K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: M1256K

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000206014
AA Change: M119K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000206888
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 C T 19: 34,220,839 (GRCm39) D290N probably damaging Het
Adam18 T C 8: 25,101,116 (GRCm39) D682G probably benign Het
Ankrd46 A G 15: 36,485,989 (GRCm39) V88A possibly damaging Het
Ankub1 T A 3: 57,572,807 (GRCm39) K305I probably damaging Het
Atrn T A 2: 130,812,147 (GRCm39) probably null Het
Bambi A T 18: 3,511,406 (GRCm39) T76S probably benign Het
Cacna1a T A 8: 85,310,283 (GRCm39) V1447E probably damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Clcn2 A G 16: 20,527,210 (GRCm39) M629T probably damaging Het
Clcn4 T C 7: 7,290,780 (GRCm39) N673S probably benign Het
Col20a1 T C 2: 180,628,371 (GRCm39) F15S probably benign Het
Col2a1 G A 15: 97,898,458 (GRCm39) Q39* probably null Het
Creb3 A G 4: 43,563,332 (GRCm39) E119G probably benign Het
Dnah5 A C 15: 28,245,830 (GRCm39) D556A probably damaging Het
Edar C T 10: 58,446,348 (GRCm39) M192I possibly damaging Het
Fam91a1 A G 15: 58,320,209 (GRCm39) M634V probably benign Het
Fbxo10 C T 4: 45,051,699 (GRCm39) V471I not run Het
Fer1l5 T C 1: 36,460,967 (GRCm39) F2032L probably benign Het
Gm5150 A C 3: 16,060,485 (GRCm39) M1R probably null Het
Grin1 T C 2: 25,188,202 (GRCm39) E509G probably benign Het
Igkv10-94 C T 6: 68,681,913 (GRCm39) probably benign Het
Il18bp A G 7: 101,666,002 (GRCm39) Y59H possibly damaging Het
Ints8 A T 4: 11,254,062 (GRCm39) C17S probably benign Het
Kcnmb1 T C 11: 33,916,275 (GRCm39) Y74H probably damaging Het
Kpna1 T C 16: 35,843,565 (GRCm39) V313A probably benign Het
Lrp4 C T 2: 91,321,061 (GRCm39) T1029I possibly damaging Het
Lrrc7 A T 3: 158,059,099 (GRCm39) C3S probably damaging Het
Lyst C A 13: 13,810,450 (GRCm39) H707N probably benign Het
Map3k20 A G 2: 72,202,098 (GRCm39) K148R probably damaging Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mocs1 T A 17: 49,746,561 (GRCm39) I177N probably damaging Het
Muc5b A G 7: 141,399,850 (GRCm39) D441G unknown Het
Ncoa1 T C 12: 4,328,186 (GRCm39) N884S probably benign Het
Or12j4 A G 7: 140,046,696 (GRCm39) N194S probably damaging Het
Or51a39 A G 7: 102,363,389 (GRCm39) V77A probably benign Het
Padi6 A T 4: 140,455,073 (GRCm39) F621L probably damaging Het
Pde8b C A 13: 95,223,347 (GRCm39) M197I possibly damaging Het
Pear1 T A 3: 87,659,522 (GRCm39) I771L probably benign Het
Poli A G 18: 70,655,891 (GRCm39) L281P probably damaging Het
Prdm12 T C 2: 31,530,231 (GRCm39) W41R probably damaging Het
Prkdc T G 16: 15,532,870 (GRCm39) S1500A probably benign Het
Prune2 T A 19: 17,096,798 (GRCm39) H767Q probably benign Het
Rasgef1b G A 5: 99,382,403 (GRCm39) Q196* probably null Het
Rnpc3 A T 3: 113,416,096 (GRCm39) L121* probably null Het
Rpp14 A G 14: 8,083,724 (GRCm38) M1V probably null Het
Ryr2 T A 13: 11,610,610 (GRCm39) D4072V probably damaging Het
Sgms1 T C 19: 32,102,765 (GRCm39) H314R probably damaging Het
Six4 CT C 12: 73,151,013 (GRCm39) probably benign Het
Slc37a3 A T 6: 39,324,244 (GRCm39) Y335N probably damaging Het
Tcp11l1 A T 2: 104,536,837 (GRCm39) H9Q probably benign Het
Trpc6 A G 9: 8,609,910 (GRCm39) N126S probably damaging Het
Tut4 T G 4: 108,374,715 (GRCm39) C933G probably damaging Het
Ubr4 T C 4: 139,120,373 (GRCm39) F266S possibly damaging Het
Uimc1 A G 13: 55,217,550 (GRCm39) V424A possibly damaging Het
Utrn T C 10: 12,573,873 (GRCm39) I1066V probably benign Het
Vmn1r204 A G 13: 22,740,404 (GRCm39) T12A probably benign Het
Vmn1r57 T A 7: 5,223,613 (GRCm39) I46N possibly damaging Het
Vmn1r91 T C 7: 19,835,839 (GRCm39) Y253H probably benign Het
Vmn2r14 T A 5: 109,369,219 (GRCm39) H118L probably benign Het
Zfp775 A G 6: 48,597,404 (GRCm39) K426R 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
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
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'- GTGGACCTTGGACTCTTTCC -3'
(R):5'- AGAGCCAAACACATATTTCATGGG -3'

Sequencing Primer
(F):5'- GTGATGACCAAGTACTTACATGTC -3'
(R):5'- TGGTTGATTATGCTCAGATC -3'
Posted On 2019-12-20