Incidental Mutation 'R2089:Tnrc6a'
| ID |
231659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc6a
|
| Ensembl Gene |
ENSMUSG00000052707 |
| Gene Name |
trinucleotide repeat containing 6a |
| Synonyms |
3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik |
| MMRRC Submission |
040094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R2089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
122723108-122794519 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 122771343 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094053]
[ENSMUST00000205514]
[ENSMUST00000206014]
[ENSMUST00000206888]
|
| AlphaFold |
Q3UHK8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000094053
|
| SMART Domains |
Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
| 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 |
noncoding transcript
Transcript: ENSMUST00000205449
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205732
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205760
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205760
|
| 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
|
| Meta Mutation Damage Score |
0.9497 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (51/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
C |
2: 19,522,357 (GRCm39) |
N247K |
probably damaging |
Het |
| 4930402F06Rik |
T |
C |
2: 35,266,079 (GRCm39) |
K197R |
probably benign |
Het |
| Adgrl1 |
T |
C |
8: 84,661,093 (GRCm39) |
I862T |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,239,248 (GRCm39) |
V583M |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Atg14 |
A |
T |
14: 47,780,352 (GRCm39) |
I474N |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,862,638 (GRCm39) |
S206P |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,042,405 (GRCm39) |
T2797I |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,140,430 (GRCm39) |
D221V |
probably damaging |
Het |
| Ccdc93 |
T |
A |
1: 121,411,071 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,677 (GRCm39) |
V1409E |
probably benign |
Het |
| Dsc2 |
G |
A |
18: 20,166,351 (GRCm39) |
T760I |
possibly damaging |
Het |
| Etnk2 |
T |
G |
1: 133,304,791 (GRCm39) |
|
probably null |
Het |
| Gbp7 |
A |
T |
3: 142,240,383 (GRCm39) |
I34F |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,251,316 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,689,062 (GRCm39) |
S12P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,755 (GRCm39) |
I168T |
probably damaging |
Het |
| Hat1 |
T |
C |
2: 71,264,378 (GRCm39) |
V272A |
probably benign |
Het |
| Igkv8-30 |
A |
C |
6: 70,094,070 (GRCm39) |
C114G |
probably damaging |
Het |
| Lrrc4 |
T |
G |
6: 28,830,586 (GRCm39) |
D343A |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,135,154 (GRCm39) |
S646P |
probably damaging |
Het |
| Micu3 |
G |
A |
8: 40,761,413 (GRCm39) |
G108R |
probably benign |
Het |
| Mterf1b |
A |
T |
5: 4,247,057 (GRCm39) |
T233S |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,201,964 (GRCm39) |
V171D |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,411,046 (GRCm39) |
D897N |
probably benign |
Het |
| Nfx1 |
T |
C |
4: 40,977,004 (GRCm39) |
V226A |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Ntrk2 |
A |
G |
13: 59,007,115 (GRCm39) |
H239R |
possibly damaging |
Het |
| Or10g9 |
T |
C |
9: 39,912,500 (GRCm39) |
T8A |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,653 (GRCm39) |
S328P |
probably damaging |
Het |
| Pigm |
T |
C |
1: 172,205,100 (GRCm39) |
Y279H |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,737,156 (GRCm39) |
L880P |
probably damaging |
Het |
| Plaat3 |
A |
G |
19: 7,556,474 (GRCm39) |
I92V |
probably damaging |
Het |
| Ptger4 |
T |
A |
15: 5,272,326 (GRCm39) |
I98F |
possibly damaging |
Het |
| Rasl11a |
T |
A |
5: 146,783,927 (GRCm39) |
I124N |
probably damaging |
Het |
| Rest |
A |
G |
5: 77,429,126 (GRCm39) |
K515R |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,474 (GRCm39) |
L1746P |
probably damaging |
Het |
| Ryr2 |
G |
T |
13: 11,960,863 (GRCm39) |
T25K |
probably benign |
Het |
| Serpina3g |
A |
T |
12: 104,205,417 (GRCm39) |
D52V |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,703,881 (GRCm39) |
N998S |
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,665,763 (GRCm39) |
T184S |
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,433 (GRCm39) |
Y73C |
probably null |
Het |
| Suclg1 |
A |
G |
6: 73,241,259 (GRCm39) |
K193R |
probably benign |
Het |
| Tnrc18 |
A |
C |
5: 142,759,396 (GRCm39) |
S813R |
unknown |
Het |
| Trap1 |
A |
C |
16: 3,863,903 (GRCm39) |
Y472* |
probably null |
Het |
| Trpm8 |
T |
C |
1: 88,271,048 (GRCm39) |
I446T |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,294 (GRCm39) |
L297P |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,190,893 (GRCm39) |
M247V |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,710,874 (GRCm39) |
|
probably benign |
Het |
| Zfp174 |
A |
G |
16: 3,672,506 (GRCm39) |
R352G |
possibly damaging |
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 |
|
|
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 |
|
|
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'- GATGGAACTTCAGCTTGGGG -3'
(R):5'- GGCTTGACTAAGAATACCTAAGTGTG -3'
Sequencing Primer
(F):5'- AACTTCAGCTTGGGGAGATCC -3'
(R):5'- ACCTAAGTGTGTAAGTCTGCAC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation