Incidental Mutation 'IGL01309:Tnrc6a'
| ID |
73577 |
| 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 # |
IGL01309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
122723108-122794519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122770717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 836
(I836F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094053]
[ENSMUST00000205514]
[ENSMUST00000206014]
[ENSMUST00000206888]
|
| AlphaFold |
Q3UHK8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094053
AA Change: I836F
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: I836F
| 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 |
unknown
Transcript: ENSMUST00000205760
AA Change: I288F
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206922
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
A |
G |
16: 16,931,410 (GRCm39) |
V275A |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,694,528 (GRCm39) |
D1105G |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,151,352 (GRCm39) |
M195L |
possibly damaging |
Het |
| Adrm1 |
A |
G |
2: 179,817,756 (GRCm39) |
|
probably benign |
Het |
| Atg13 |
T |
A |
2: 91,509,176 (GRCm39) |
I457F |
possibly damaging |
Het |
| BC034090 |
T |
C |
1: 155,102,130 (GRCm39) |
N45D |
probably damaging |
Het |
| C3 |
C |
T |
17: 57,516,652 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
G |
A |
8: 85,249,657 (GRCm39) |
G221D |
probably damaging |
Het |
| Calr |
A |
G |
8: 85,573,335 (GRCm39) |
|
probably null |
Het |
| Chd3 |
C |
T |
11: 69,248,557 (GRCm39) |
V825I |
probably damaging |
Het |
| Chdh |
T |
G |
14: 29,757,761 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
C |
2: 91,400,529 (GRCm39) |
V627A |
probably damaging |
Het |
| Commd3 |
A |
G |
2: 18,677,289 (GRCm39) |
E5G |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,265,773 (GRCm39) |
R199G |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,723,724 (GRCm39) |
|
probably benign |
Het |
| Dok7 |
G |
A |
5: 35,236,912 (GRCm39) |
G293D |
possibly damaging |
Het |
| Epm2aip1 |
T |
C |
9: 111,102,596 (GRCm39) |
V523A |
probably benign |
Het |
| Fam171b |
C |
T |
2: 83,709,791 (GRCm39) |
Q488* |
probably null |
Het |
| Gabbr1 |
G |
A |
17: 37,359,499 (GRCm39) |
|
probably null |
Het |
| Gm5965 |
T |
G |
16: 88,575,219 (GRCm39) |
S131A |
possibly damaging |
Het |
| Gpcpd1 |
T |
C |
2: 132,392,244 (GRCm39) |
D235G |
probably damaging |
Het |
| Grip1 |
A |
T |
10: 119,767,207 (GRCm39) |
K111* |
probably null |
Het |
| Itih4 |
G |
T |
14: 30,613,706 (GRCm39) |
D308Y |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,314 (GRCm39) |
Y266H |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,953,663 (GRCm39) |
L783P |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,888,737 (GRCm39) |
D298G |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,849,423 (GRCm39) |
F712L |
probably damaging |
Het |
| Mcoln2 |
T |
C |
3: 145,869,282 (GRCm39) |
|
probably benign |
Het |
| Megf11 |
T |
A |
9: 64,588,698 (GRCm39) |
S532R |
probably benign |
Het |
| Mkx |
T |
C |
18: 6,937,192 (GRCm39) |
D284G |
probably benign |
Het |
| Mmp16 |
A |
G |
4: 18,116,185 (GRCm39) |
I596M |
probably damaging |
Het |
| Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
| Mtmr9 |
A |
G |
14: 63,764,254 (GRCm39) |
L491P |
probably damaging |
Het |
| Or4a66 |
T |
G |
2: 88,531,310 (GRCm39) |
Y121S |
probably damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,289 (GRCm39) |
I284L |
probably benign |
Het |
| Or9s13 |
T |
C |
1: 92,548,057 (GRCm39) |
M143T |
probably damaging |
Het |
| Otor |
T |
C |
2: 142,920,532 (GRCm39) |
V38A |
possibly damaging |
Het |
| Pcdhb12 |
G |
T |
18: 37,569,207 (GRCm39) |
D118Y |
probably damaging |
Het |
| Prelp |
T |
C |
1: 133,842,545 (GRCm39) |
H200R |
probably benign |
Het |
| Prmt5 |
T |
C |
14: 54,747,334 (GRCm39) |
Y481C |
probably damaging |
Het |
| Psg23 |
T |
G |
7: 18,348,465 (GRCm39) |
D114A |
probably damaging |
Het |
| Ptger4 |
A |
T |
15: 5,272,239 (GRCm39) |
Y127N |
probably damaging |
Het |
| Rabgap1l |
C |
A |
1: 160,528,368 (GRCm39) |
V385L |
probably benign |
Het |
| Rergl |
T |
A |
6: 139,470,256 (GRCm39) |
K191* |
probably null |
Het |
| Sart3 |
A |
G |
5: 113,897,311 (GRCm39) |
F252S |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,519,769 (GRCm39) |
S1169T |
probably benign |
Het |
| Serpinb8 |
C |
T |
1: 107,532,448 (GRCm39) |
T180M |
probably damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,434,470 (GRCm39) |
E747K |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,634,237 (GRCm39) |
D2158V |
probably benign |
Het |
| Sycp2 |
T |
G |
2: 177,999,904 (GRCm39) |
D1024A |
probably benign |
Het |
| Tbr1 |
T |
G |
2: 61,636,411 (GRCm39) |
N262K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,769,091 (GRCm39) |
E2823G |
probably damaging |
Het |
| Uqcrc1 |
T |
A |
9: 108,778,026 (GRCm39) |
L441Q |
possibly damaging |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,424 (GRCm39) |
F196L |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,787,997 (GRCm39) |
I451M |
possibly damaging |
Het |
| Zcchc7 |
A |
T |
4: 44,926,060 (GRCm39) |
H353L |
probably 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 |
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation