Incidental Mutation 'R8313:Tnrc6a'
| ID |
641500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc6a
|
| Ensembl Gene |
ENSMUSG00000052707 |
| Gene Name |
trinucleotide repeat containing 6a |
| Synonyms |
3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik |
| MMRRC Submission |
067797-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R8313 (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 122769936 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 575
(N575K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094053]
[ENSMUST00000205514]
[ENSMUST00000206014]
[ENSMUST00000206888]
|
| AlphaFold |
Q3UHK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094053
AA Change: N575K
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: N575K
| 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 benign
Transcript: ENSMUST00000206014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206888
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Atl2 |
C |
T |
17: 80,160,033 (GRCm39) |
W518* |
probably null |
Het |
| Atp13a2 |
G |
A |
4: 140,730,046 (GRCm39) |
V646I |
probably benign |
Het |
| Bcar1 |
A |
T |
8: 112,440,270 (GRCm39) |
F575I |
probably benign |
Het |
| Bpifa6 |
T |
A |
2: 153,831,178 (GRCm39) |
L248* |
probably null |
Het |
| Ccdc38 |
T |
C |
10: 93,399,111 (GRCm39) |
L193P |
probably damaging |
Het |
| Ch25h |
A |
C |
19: 34,452,138 (GRCm39) |
I130S |
probably benign |
Het |
| Chaf1a |
C |
A |
17: 56,351,109 (GRCm39) |
Q30K |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,617,440 (GRCm39) |
L1106S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,550,375 (GRCm39) |
Y3315H |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,214,456 (GRCm39) |
V1074I |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,860,691 (GRCm39) |
Q200R |
probably benign |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,764 (GRCm39) |
D137V |
unknown |
Het |
| Epx |
C |
T |
11: 87,763,557 (GRCm39) |
R221Q |
possibly damaging |
Het |
| Exosc7 |
T |
C |
9: 122,956,942 (GRCm39) |
L109P |
probably damaging |
Het |
| Fbxo22 |
T |
A |
9: 55,128,344 (GRCm39) |
F222I |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,785,769 (GRCm39) |
D402G |
probably benign |
Het |
| Foxr1 |
A |
G |
9: 44,347,351 (GRCm39) |
V62A |
probably damaging |
Het |
| Gm8267 |
A |
T |
14: 44,961,515 (GRCm39) |
H59Q |
probably damaging |
Het |
| Gnptab |
T |
A |
10: 88,275,071 (GRCm39) |
Y1090N |
probably damaging |
Het |
| Gpr20 |
A |
G |
15: 73,568,161 (GRCm39) |
F76S |
probably damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,907 (GRCm39) |
V44A |
probably benign |
Het |
| Grin3a |
G |
A |
4: 49,665,599 (GRCm39) |
T1012I |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,103,120 (GRCm39) |
T1104S |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,054,110 (GRCm39) |
Y537N |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,057,515 (GRCm39) |
T530A |
|
Het |
| Lysmd2 |
A |
T |
9: 75,533,040 (GRCm39) |
|
probably benign |
Het |
| Mdk |
T |
C |
2: 91,761,178 (GRCm39) |
K128E |
unknown |
Het |
| Mphosph8 |
AC |
A |
14: 56,916,062 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
C |
9: 18,436,443 (GRCm39) |
L7915W |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,753,423 (GRCm38) |
T1100S |
probably benign |
Het |
| Mxra7 |
T |
C |
11: 116,695,376 (GRCm39) |
Y176C |
probably damaging |
Het |
| Myh15 |
C |
A |
16: 48,940,381 (GRCm39) |
T777N |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 113,023,045 (GRCm39) |
S116P |
unknown |
Het |
| Noc3l |
A |
G |
19: 38,784,254 (GRCm39) |
L543P |
probably damaging |
Het |
| Or5h24 |
C |
T |
16: 58,919,004 (GRCm39) |
G117D |
unknown |
Het |
| Or7a39 |
C |
T |
10: 78,715,170 (GRCm39) |
P55S |
probably benign |
Het |
| Or8c10 |
T |
A |
9: 38,279,346 (GRCm39) |
V168E |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,575,902 (GRCm39) |
R106L |
probably benign |
Het |
| Prkab2 |
G |
T |
3: 97,570,911 (GRCm39) |
V112F |
probably benign |
Het |
| Prkaca |
A |
T |
8: 84,717,151 (GRCm39) |
N172Y |
probably damaging |
Het |
| Prmt8 |
A |
G |
6: 127,666,813 (GRCm39) |
V387A |
probably benign |
Het |
| Rad17 |
T |
C |
13: 100,761,074 (GRCm39) |
T485A |
probably benign |
Het |
| Rita1 |
G |
T |
5: 120,747,716 (GRCm39) |
T194K |
possibly damaging |
Het |
| Rogdi |
C |
A |
16: 4,831,313 (GRCm39) |
|
probably benign |
Het |
| Senp5 |
T |
C |
16: 31,808,117 (GRCm39) |
D379G |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,194,122 (GRCm39) |
K201E |
possibly damaging |
Het |
| Slc9a4 |
C |
T |
1: 40,619,520 (GRCm39) |
|
probably benign |
Het |
| Tmem175 |
T |
A |
5: 108,791,075 (GRCm39) |
S208R |
probably benign |
Het |
| Tmem237 |
A |
T |
1: 59,147,237 (GRCm39) |
Y299N |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,960,306 (GRCm39) |
C232* |
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,775,478 (GRCm39) |
H589R |
probably damaging |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r208 |
G |
C |
13: 22,956,947 (GRCm39) |
I183M |
probably benign |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,289 (GRCm39) |
V209I |
probably benign |
Het |
| Vmn1r80 |
T |
C |
7: 11,926,994 (GRCm39) |
F35L |
probably benign |
Het |
| Vmn2r58 |
A |
T |
7: 41,521,952 (GRCm39) |
I48N |
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,231,898 (GRCm39) |
V231E |
probably damaging |
Het |
| Zfp108 |
A |
C |
7: 23,960,087 (GRCm39) |
Y226S |
possibly damaging |
Het |
| Zfp445 |
A |
T |
9: 122,682,695 (GRCm39) |
N415K |
possibly damaging |
Het |
| Zfp938 |
T |
G |
10: 82,061,422 (GRCm39) |
R399S |
possibly damaging |
Het |
| Zmym4 |
G |
A |
4: 126,804,762 (GRCm39) |
H464Y |
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 |
|
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'- GTACTACATGGGGTGCCTATGG -3'
(R):5'- GCAGAACCCTGATCGTCTTC -3'
Sequencing Primer
(F):5'- TACTCTGGCGACAAATGTGC -3'
(R):5'- GAACCCTGATCGTCTTCCTCAGTAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation