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)
|
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |