Incidental Mutation 'R4722:Tnrc6a'
| ID |
354540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc6a
|
| Ensembl Gene |
ENSMUSG00000052707 |
| Gene Name |
trinucleotide repeat containing 6a |
| Synonyms |
3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik |
| MMRRC Submission |
041987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.879)
|
| Stock # |
R4722 (G1)
|
| Quality Score |
207 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
122723108-122794519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122791313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1737
(M1737T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094053]
[ENSMUST00000205514]
|
| AlphaFold |
Q3UHK8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094053
AA Change: M1737T
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: M1737T
| 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 |
unknown
Transcript: ENSMUST00000205760
AA Change: M1238T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206126
|
| Meta Mutation Damage Score |
0.3079 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
99% (68/69) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
G |
T |
12: 55,107,922 (GRCm39) |
D92E |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,484,403 (GRCm39) |
F1620L |
probably damaging |
Het |
| Abcf1 |
T |
C |
17: 36,268,933 (GRCm39) |
|
probably benign |
Het |
| Adtrp |
T |
C |
13: 41,920,823 (GRCm39) |
H248R |
probably benign |
Het |
| Aldh1b1 |
T |
G |
4: 45,803,472 (GRCm39) |
F337V |
probably damaging |
Het |
| Amz2 |
C |
T |
11: 109,325,457 (GRCm39) |
L272F |
probably damaging |
Het |
| Asic2 |
A |
T |
11: 81,859,009 (GRCm39) |
M1K |
probably null |
Het |
| Avpr1a |
T |
A |
10: 122,284,906 (GRCm39) |
V66E |
possibly damaging |
Het |
| AW554918 |
C |
A |
18: 25,307,772 (GRCm39) |
Y28* |
probably null |
Het |
| Cdc25b |
C |
T |
2: 131,035,271 (GRCm39) |
P343L |
probably damaging |
Het |
| Chd7 |
T |
A |
4: 8,822,445 (GRCm39) |
I846K |
probably damaging |
Het |
| Dnajc13 |
A |
T |
9: 104,091,017 (GRCm39) |
M688K |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,586,298 (GRCm39) |
I505F |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,290,521 (GRCm39) |
V290A |
possibly damaging |
Het |
| Dtl |
G |
T |
1: 191,288,953 (GRCm39) |
Q254K |
possibly damaging |
Het |
| Enpp2 |
T |
G |
15: 54,750,985 (GRCm39) |
K265T |
probably damaging |
Het |
| Epm2aip1 |
TGTCGCCG |
TG |
9: 111,101,152 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
T |
A |
5: 3,593,949 (GRCm39) |
|
probably null |
Het |
| Fuom |
A |
G |
7: 139,679,480 (GRCm39) |
|
probably benign |
Het |
| Fut9 |
T |
C |
4: 25,799,734 (GRCm39) |
|
probably benign |
Het |
| Gas8 |
T |
A |
8: 124,252,374 (GRCm39) |
I171N |
possibly damaging |
Het |
| Gipc3 |
T |
G |
10: 81,177,129 (GRCm39) |
D147A |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm5591 |
T |
C |
7: 38,218,572 (GRCm39) |
K767R |
probably damaging |
Het |
| Kctd8 |
G |
A |
5: 69,498,544 (GRCm39) |
P34L |
possibly damaging |
Het |
| Kmt2b |
G |
A |
7: 30,282,627 (GRCm39) |
R403C |
probably damaging |
Het |
| Krt84 |
A |
T |
15: 101,436,846 (GRCm39) |
I396N |
probably damaging |
Het |
| Lrrk2 |
C |
A |
15: 91,573,104 (GRCm39) |
F217L |
probably damaging |
Het |
| Med27 |
T |
A |
2: 29,414,447 (GRCm39) |
D290E |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,015,486 (GRCm39) |
Q184R |
probably benign |
Het |
| Mlxip |
A |
T |
5: 123,585,265 (GRCm39) |
K591M |
probably benign |
Het |
| Mutyh |
T |
A |
4: 116,674,069 (GRCm39) |
L233H |
probably damaging |
Het |
| Naip6 |
G |
T |
13: 100,443,580 (GRCm39) |
H253N |
possibly damaging |
Het |
| Nynrin |
A |
G |
14: 56,091,852 (GRCm39) |
E56G |
probably damaging |
Het |
| Oip5 |
C |
T |
2: 119,443,492 (GRCm39) |
|
probably null |
Het |
| Or10a4 |
T |
A |
7: 106,696,777 (GRCm39) |
I35N |
possibly damaging |
Het |
| Or10ak12 |
T |
C |
4: 118,666,146 (GRCm39) |
N305S |
probably damaging |
Het |
| Or4c104 |
T |
G |
2: 88,586,356 (GRCm39) |
H221P |
possibly damaging |
Het |
| Or4c15 |
T |
C |
2: 88,760,324 (GRCm39) |
I112V |
possibly damaging |
Het |
| Or5p61 |
T |
A |
7: 107,758,445 (GRCm39) |
I212F |
probably benign |
Het |
| Oxr1 |
T |
C |
15: 41,677,045 (GRCm39) |
S132P |
probably damaging |
Het |
| Pcdhac1 |
C |
T |
18: 37,224,933 (GRCm39) |
T582I |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,844,858 (GRCm39) |
I176T |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,169,734 (GRCm39) |
T30A |
possibly damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,976,480 (GRCm39) |
M1294T |
probably benign |
Het |
| Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
| Rnmt |
T |
A |
18: 68,438,952 (GRCm39) |
N20K |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,531,228 (GRCm39) |
T550S |
possibly damaging |
Het |
| Shank1 |
T |
A |
7: 43,962,638 (GRCm39) |
Y117* |
probably null |
Het |
| Skint5 |
T |
A |
4: 113,751,052 (GRCm39) |
K331I |
unknown |
Het |
| Slc5a1 |
A |
G |
5: 33,304,055 (GRCm39) |
Y290C |
possibly damaging |
Het |
| Slfn14 |
T |
C |
11: 83,174,244 (GRCm39) |
E249G |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,650,496 (GRCm39) |
S544P |
probably damaging |
Het |
| St6galnac3 |
A |
T |
3: 153,117,166 (GRCm39) |
Y186N |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,420,900 (GRCm39) |
F346S |
probably damaging |
Het |
| Tdrd5 |
A |
T |
1: 156,129,945 (GRCm39) |
I75K |
probably benign |
Het |
| Toe1 |
A |
T |
4: 116,662,397 (GRCm39) |
Y283N |
probably damaging |
Het |
| Tubal3 |
G |
T |
13: 3,978,185 (GRCm39) |
G34C |
probably damaging |
Het |
| Uxs1 |
A |
G |
1: 43,814,006 (GRCm39) |
L77P |
probably damaging |
Het |
| Vmn1r212 |
T |
C |
13: 23,068,078 (GRCm39) |
Y85C |
probably damaging |
Het |
| Yju2b |
A |
T |
8: 84,985,439 (GRCm39) |
C277S |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,307,536 (GRCm39) |
S162P |
probably damaging |
Het |
| Zfp712 |
A |
G |
13: 67,190,177 (GRCm39) |
S117P |
probably benign |
Het |
| Zic4 |
G |
T |
9: 91,261,257 (GRCm39) |
G164C |
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 |
|
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 |
|
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'- AAGACATGAAGCCGTGCCTG -3'
(R):5'- CTAGGCTCAAGTTATCCCTCCG -3'
Sequencing Primer
(F):5'- CCTGGGGTGATGACTCATCG -3'
(R):5'- TTAACCAGGTCTACACAGGGGTC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation