Incidental Mutation 'IGL02142:Tnrc6a'
ID |
281638 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tnrc6a
|
Ensembl Gene |
ENSMUSG00000052707 |
Gene Name |
trinucleotide repeat containing 6a |
Synonyms |
3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.879)
|
Stock # |
IGL02142
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
122723108-122794519 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 122751414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145963
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094053]
[ENSMUST00000205514]
[ENSMUST00000206888]
|
AlphaFold |
Q3UHK8 |
Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000205514
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206458
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211170
|
Coding Region Coverage |
|
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 |
Abca4 |
T |
C |
3: 121,963,575 (GRCm39) |
S2060P |
probably benign |
Het |
Abcg4 |
A |
G |
9: 44,189,014 (GRCm39) |
F426S |
probably benign |
Het |
Actn1 |
C |
T |
12: 80,222,929 (GRCm39) |
|
probably null |
Het |
Adgrd1 |
T |
A |
5: 129,208,648 (GRCm39) |
H251Q |
probably benign |
Het |
Adgrg3 |
C |
T |
8: 95,766,483 (GRCm39) |
P385S |
probably damaging |
Het |
Ampd2 |
G |
T |
3: 107,987,660 (GRCm39) |
|
probably benign |
Het |
Arhgap42 |
A |
G |
9: 9,155,360 (GRCm39) |
S86P |
probably damaging |
Het |
Art5 |
C |
T |
7: 101,747,123 (GRCm39) |
E121K |
probably null |
Het |
Atad5 |
G |
A |
11: 79,985,023 (GRCm39) |
E37K |
probably benign |
Het |
Atp13a5 |
A |
G |
16: 29,053,315 (GRCm39) |
V1084A |
probably benign |
Het |
Cfap44 |
T |
C |
16: 44,241,507 (GRCm39) |
I626T |
probably benign |
Het |
Col16a1 |
T |
A |
4: 129,945,440 (GRCm39) |
|
probably null |
Het |
Defa22 |
T |
G |
8: 21,653,130 (GRCm39) |
C81G |
possibly damaging |
Het |
Dnm2 |
A |
G |
9: 21,411,649 (GRCm39) |
Y622C |
probably damaging |
Het |
Efna5 |
T |
A |
17: 62,914,340 (GRCm39) |
L201F |
unknown |
Het |
Elac1 |
T |
C |
18: 73,871,991 (GRCm39) |
R335G |
probably benign |
Het |
Enpp5 |
T |
C |
17: 44,396,468 (GRCm39) |
V460A |
probably benign |
Het |
Esr2 |
A |
G |
12: 76,169,969 (GRCm39) |
V453A |
probably benign |
Het |
Fam210b |
T |
A |
2: 172,194,497 (GRCm39) |
|
probably benign |
Het |
Fcgr1 |
T |
C |
3: 96,191,893 (GRCm39) |
Y305C |
probably benign |
Het |
Fcrlb |
A |
G |
1: 170,736,248 (GRCm39) |
V176A |
probably damaging |
Het |
Gabrq |
T |
A |
X: 71,879,783 (GRCm39) |
V256E |
possibly damaging |
Het |
Gba1 |
T |
C |
3: 89,113,148 (GRCm39) |
L193P |
probably damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Helq |
A |
G |
5: 100,930,960 (GRCm39) |
F597L |
probably benign |
Het |
Hrh1 |
A |
T |
6: 114,457,204 (GRCm39) |
I162L |
probably damaging |
Het |
Jph1 |
A |
T |
1: 17,161,884 (GRCm39) |
F259L |
probably damaging |
Het |
Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
Kdm4c |
T |
A |
4: 74,225,253 (GRCm39) |
|
probably null |
Het |
Kif13a |
T |
C |
13: 46,925,011 (GRCm39) |
T308A |
probably benign |
Het |
Lars1 |
C |
T |
18: 42,360,345 (GRCm39) |
V704M |
probably benign |
Het |
Lcmt2 |
A |
G |
2: 120,969,394 (GRCm39) |
L343P |
possibly damaging |
Het |
Lhfpl1 |
A |
G |
X: 144,123,733 (GRCm39) |
F125L |
probably benign |
Het |
Lmbrd2 |
C |
A |
15: 9,186,772 (GRCm39) |
D582E |
probably damaging |
Het |
Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
Macf1 |
T |
C |
4: 123,365,842 (GRCm39) |
D1408G |
probably benign |
Het |
Magi3 |
T |
C |
3: 103,923,219 (GRCm39) |
K1166R |
probably benign |
Het |
Marchf5 |
T |
C |
19: 37,197,892 (GRCm39) |
|
probably benign |
Het |
Ms4a20 |
G |
A |
19: 11,087,695 (GRCm39) |
Q79* |
probably null |
Het |
Naa25 |
A |
G |
5: 121,564,825 (GRCm39) |
Q555R |
possibly damaging |
Het |
Npat |
A |
G |
9: 53,481,207 (GRCm39) |
T1005A |
probably benign |
Het |
Nt5c3 |
G |
A |
6: 56,863,670 (GRCm39) |
A108V |
probably damaging |
Het |
Ocrl |
T |
A |
X: 47,024,995 (GRCm39) |
M322K |
probably damaging |
Het |
Odad2 |
C |
A |
18: 7,214,601 (GRCm39) |
W733C |
probably damaging |
Het |
Or8g2 |
A |
G |
9: 39,821,935 (GRCm39) |
T279A |
possibly damaging |
Het |
Psg23 |
A |
T |
7: 18,344,345 (GRCm39) |
V370E |
probably benign |
Het |
Rassf2 |
A |
T |
2: 131,838,353 (GRCm39) |
M311K |
possibly damaging |
Het |
Rhobtb3 |
A |
G |
13: 76,025,614 (GRCm39) |
Y501H |
probably damaging |
Het |
Rpl4 |
A |
G |
9: 64,083,488 (GRCm39) |
D179G |
possibly damaging |
Het |
Scn2a |
T |
A |
2: 65,546,182 (GRCm39) |
I915N |
probably damaging |
Het |
Scn3a |
T |
A |
2: 65,356,965 (GRCm39) |
T160S |
possibly damaging |
Het |
Slx4ip |
T |
G |
2: 136,909,942 (GRCm39) |
N242K |
possibly damaging |
Het |
Spidr |
T |
A |
16: 15,865,945 (GRCm39) |
Q288L |
probably benign |
Het |
Sun1 |
A |
T |
5: 139,216,918 (GRCm39) |
H255L |
possibly damaging |
Het |
Tacc1 |
C |
T |
8: 25,665,233 (GRCm39) |
G51S |
probably damaging |
Het |
Tet2 |
T |
A |
3: 133,185,900 (GRCm39) |
N1179I |
possibly damaging |
Het |
Tgfbrap1 |
T |
C |
1: 43,101,752 (GRCm39) |
Y349C |
probably damaging |
Het |
Trim32 |
T |
C |
4: 65,532,736 (GRCm39) |
L431P |
probably damaging |
Het |
Vmn1r35 |
A |
G |
6: 66,656,334 (GRCm39) |
L112S |
probably damaging |
Het |
Vmn2r100 |
A |
C |
17: 19,742,583 (GRCm39) |
H319P |
probably damaging |
Het |
Wdr20rt |
A |
G |
12: 65,274,039 (GRCm39) |
T328A |
probably benign |
Het |
Zbtb17 |
T |
C |
4: 141,192,293 (GRCm39) |
Y413H |
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 |
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 |
|
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 |
|
Posted On |
2015-04-16 |