Incidental Mutation 'R9153:Tnrc6a'
ID |
695152 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnrc6a
|
Ensembl Gene |
ENSMUSG00000052707 |
Gene Name |
trinucleotide repeat containing 6a |
Synonyms |
3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik |
MMRRC Submission |
068940-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.879)
|
Stock # |
R9153 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
122723108-122794519 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 122773519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 1154
(Y1154N)
|
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: Y1154N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091595 Gene: ENSMUSG00000052707 AA Change: Y1154N
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206014
AA Change: Y28N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206888
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (73/74) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
A |
T |
11: 110,107,481 (GRCm39) |
S711R |
possibly damaging |
Het |
Adnp |
C |
A |
2: 168,026,580 (GRCm39) |
Q238H |
possibly damaging |
Het |
Akap13 |
A |
G |
7: 75,259,229 (GRCm39) |
T618A |
probably benign |
Het |
Ankfn1 |
G |
A |
11: 89,302,845 (GRCm39) |
R58W |
probably damaging |
Het |
Atp8b5 |
A |
G |
4: 43,308,493 (GRCm39) |
|
probably benign |
Het |
Borcs5 |
G |
T |
6: 134,618,108 (GRCm39) |
|
probably benign |
Het |
C1s1 |
T |
C |
6: 124,517,906 (GRCm39) |
M25V |
possibly damaging |
Het |
Canx |
A |
T |
11: 50,188,162 (GRCm39) |
D527E |
probably benign |
Het |
Ccdc154 |
G |
A |
17: 25,382,152 (GRCm39) |
D24N |
probably damaging |
Het |
Ccnt1 |
G |
A |
15: 98,441,159 (GRCm39) |
T703I |
probably benign |
Het |
Cd46 |
T |
C |
1: 194,774,479 (GRCm39) |
S19G |
possibly damaging |
Het |
Cdc25b |
G |
A |
2: 131,034,564 (GRCm39) |
E264K |
possibly damaging |
Het |
Cdhr17 |
A |
T |
5: 17,040,916 (GRCm39) |
|
probably null |
Het |
Cog5 |
A |
C |
12: 31,710,810 (GRCm39) |
K63N |
possibly damaging |
Het |
Col28a1 |
G |
A |
6: 8,022,765 (GRCm39) |
T726I |
probably benign |
Het |
Dhx40 |
A |
G |
11: 86,690,365 (GRCm39) |
S219P |
probably damaging |
Het |
Dnah12 |
T |
A |
14: 26,536,569 (GRCm39) |
W2162R |
probably damaging |
Het |
Eef1a2 |
A |
G |
2: 180,789,774 (GRCm39) |
*464R |
probably null |
Het |
Eif1a |
T |
A |
18: 46,741,036 (GRCm39) |
D90E |
probably damaging |
Het |
Fasn |
C |
T |
11: 120,706,496 (GRCm39) |
R996Q |
possibly damaging |
Het |
Foxred2 |
A |
G |
15: 77,839,787 (GRCm39) |
|
probably null |
Het |
Frat2 |
A |
G |
19: 41,835,806 (GRCm39) |
L182P |
probably damaging |
Het |
Fxyd2 |
G |
T |
9: 45,319,609 (GRCm39) |
V24F |
probably damaging |
Het |
Gabrd |
C |
T |
4: 155,470,496 (GRCm39) |
V319I |
probably damaging |
Het |
H13 |
T |
G |
2: 152,533,788 (GRCm39) |
V267G |
possibly damaging |
Het |
Hnf4g |
T |
C |
3: 3,573,378 (GRCm39) |
|
probably benign |
Het |
Iglon5 |
T |
A |
7: 43,125,421 (GRCm39) |
T272S |
possibly damaging |
Het |
Iqgap2 |
T |
A |
13: 95,844,547 (GRCm39) |
M454L |
probably benign |
Het |
Irf8 |
T |
C |
8: 121,480,400 (GRCm39) |
C304R |
probably benign |
Het |
Itga2 |
A |
G |
13: 115,001,941 (GRCm39) |
F614L |
probably benign |
Het |
Itgb4 |
A |
C |
11: 115,874,879 (GRCm39) |
H412P |
probably benign |
Het |
Jarid2 |
T |
C |
13: 45,064,678 (GRCm39) |
F921S |
probably damaging |
Het |
Kctd13 |
A |
G |
7: 126,541,327 (GRCm39) |
D189G |
probably damaging |
Het |
Meis2 |
G |
T |
2: 115,697,756 (GRCm39) |
P381T |
probably benign |
Het |
Mertk |
G |
T |
2: 128,624,487 (GRCm39) |
A633S |
probably damaging |
Het |
Morn5 |
A |
G |
2: 35,942,993 (GRCm39) |
Y31C |
probably damaging |
Het |
Mug2 |
A |
T |
6: 122,017,627 (GRCm39) |
T455S |
possibly damaging |
Het |
Myo3a |
A |
G |
2: 22,404,744 (GRCm39) |
N700S |
probably benign |
Het |
Nisch |
T |
C |
14: 30,896,782 (GRCm39) |
T807A |
unknown |
Het |
Nkx1-1 |
A |
T |
5: 33,588,703 (GRCm39) |
V195E |
unknown |
Het |
Numa1 |
A |
G |
7: 101,649,118 (GRCm39) |
T950A |
probably benign |
Het |
Nup160 |
A |
G |
2: 90,514,429 (GRCm39) |
T126A |
possibly damaging |
Het |
Oca2 |
C |
T |
7: 55,943,586 (GRCm39) |
T253I |
probably benign |
Het |
Odad2 |
T |
C |
18: 7,286,733 (GRCm39) |
K166R |
possibly damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,306 (GRCm39) |
I103N |
possibly damaging |
Het |
P4ha1 |
A |
G |
10: 59,203,112 (GRCm39) |
K435R |
probably damaging |
Het |
Pcdhgb4 |
T |
A |
18: 37,854,131 (GRCm39) |
N175K |
possibly damaging |
Het |
Per3 |
A |
G |
4: 151,111,796 (GRCm39) |
L396P |
probably benign |
Het |
Phactr3 |
A |
T |
2: 177,925,739 (GRCm39) |
E338V |
possibly damaging |
Het |
Plec |
G |
T |
15: 76,064,725 (GRCm39) |
R1782S |
unknown |
Het |
Prpf39 |
A |
T |
12: 65,106,671 (GRCm39) |
Q593L |
probably damaging |
Het |
Ptprq |
T |
C |
10: 107,416,126 (GRCm39) |
Y1724C |
probably damaging |
Het |
Pygo1 |
T |
A |
9: 72,852,143 (GRCm39) |
V110D |
possibly damaging |
Het |
Rasgrf1 |
T |
A |
9: 89,826,790 (GRCm39) |
L133Q |
probably damaging |
Het |
Rgs10 |
G |
A |
7: 127,975,733 (GRCm39) |
R145C |
probably damaging |
Het |
Secisbp2 |
A |
G |
13: 51,833,855 (GRCm39) |
Y665C |
possibly damaging |
Het |
Sel1l3 |
T |
A |
5: 53,293,188 (GRCm39) |
T843S |
probably benign |
Het |
Senp7 |
G |
A |
16: 56,006,486 (GRCm39) |
V964I |
probably benign |
Het |
Setd4 |
T |
A |
16: 93,384,722 (GRCm39) |
D322V |
possibly damaging |
Het |
Sftpc |
T |
A |
14: 70,759,650 (GRCm39) |
T90S |
probably benign |
Het |
Shq1 |
A |
T |
6: 100,588,738 (GRCm39) |
D382E |
probably damaging |
Het |
Sim1 |
A |
G |
10: 50,772,029 (GRCm39) |
R13G |
probably damaging |
Het |
Slc12a1 |
T |
G |
2: 125,002,989 (GRCm39) |
|
probably benign |
Het |
Slc27a6 |
T |
C |
18: 58,731,805 (GRCm39) |
F385S |
probably benign |
Het |
Stk38l |
A |
G |
6: 146,660,048 (GRCm39) |
T27A |
probably benign |
Het |
Tasp1 |
A |
G |
2: 139,899,327 (GRCm39) |
S9P |
probably damaging |
Het |
Tcstv1a |
T |
A |
13: 120,355,290 (GRCm39) |
D114V |
probably damaging |
Het |
Tmigd1 |
A |
T |
11: 76,795,468 (GRCm39) |
R25S |
probably benign |
Het |
Tox2 |
T |
C |
2: 163,045,091 (GRCm39) |
V3A |
|
Het |
Ubr1 |
A |
T |
2: 120,756,469 (GRCm39) |
D719E |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,795,822 (GRCm39) |
K923R |
|
Het |
Vmn2r12 |
C |
T |
5: 109,234,203 (GRCm39) |
V670M |
probably damaging |
Het |
Zfp983 |
T |
C |
17: 21,876,522 (GRCm39) |
S9P |
probably benign |
Het |
Zfp986 |
A |
T |
4: 145,626,030 (GRCm39) |
H230L |
probably damaging |
Het |
Zscan4f |
G |
A |
7: 11,135,241 (GRCm39) |
E216K |
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 |
|
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 |
|
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'- GTTATCACAAATCTACAAATCAGGGCC -3'
(R):5'- AATCCCGAGCTGTAGCAGTG -3'
Sequencing Primer
(F):5'- CCCAAATCTATGCAAGATGGCTGG -3'
(R):5'- GAAAGGAAGTTCCCATGGTCTTATG -3'
|
Posted On |
2022-01-20 |