Incidental Mutation 'R6284:Tnrc6a'
| ID |
508111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc6a
|
| Ensembl Gene |
ENSMUSG00000052707 |
| Gene Name |
trinucleotide repeat containing 6a |
| Synonyms |
3110054G10Rik, 2010321I05Rik, Tnrc6, CAGH26, D130023A07Rik |
| MMRRC Submission |
044454-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.850)
|
| Stock # |
R6284 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
122723108-122794519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122770558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 783
(S783P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094053]
[ENSMUST00000205514]
[ENSMUST00000206014]
[ENSMUST00000206888]
|
| AlphaFold |
Q3UHK8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094053
AA Change: S783P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091595
Gene: ENSMUSG00000052707
AA Change: S783P
| 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: S235P
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206014
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211170
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206922
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (64/64) |
| 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 |
|---|
| 0610030E20Rik |
G |
T |
6: 72,324,437 (GRCm39) |
G16C |
probably damaging |
Het |
| Abca7 |
G |
A |
10: 79,840,244 (GRCm39) |
V801I |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,532,143 (GRCm39) |
L1030Q |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,735,394 (GRCm39) |
T423A |
possibly damaging |
Het |
| Anpep |
T |
A |
7: 79,475,550 (GRCm39) |
D111V |
probably damaging |
Het |
| Atm |
T |
A |
9: 53,356,676 (GRCm39) |
|
probably null |
Het |
| Atp5f1a |
T |
A |
18: 77,866,168 (GRCm39) |
S106T |
probably benign |
Het |
| Atp5me |
T |
C |
5: 108,581,925 (GRCm39) |
I20V |
probably benign |
Het |
| Atp6v0d2 |
T |
A |
4: 19,922,605 (GRCm39) |
|
probably null |
Het |
| Bclaf1 |
T |
G |
10: 20,197,906 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
G |
5: 41,976,130 (GRCm39) |
V1728A |
probably benign |
Het |
| Braf |
A |
G |
6: 39,665,216 (GRCm39) |
F51L |
possibly damaging |
Het |
| Camsap2 |
A |
G |
1: 136,232,175 (GRCm39) |
I140T |
possibly damaging |
Het |
| Ccdc24 |
A |
T |
4: 117,726,850 (GRCm39) |
|
probably null |
Het |
| Cdh26 |
G |
C |
2: 178,091,677 (GRCm39) |
G79R |
probably damaging |
Het |
| Cenpf |
A |
G |
1: 189,384,939 (GRCm39) |
L2447P |
probably damaging |
Het |
| Cfap74 |
T |
C |
4: 155,536,253 (GRCm39) |
F863L |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,336,727 (GRCm39) |
G917S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,604,426 (GRCm39) |
|
probably null |
Het |
| Cul5 |
G |
A |
9: 53,535,035 (GRCm39) |
P596L |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,268,166 (GRCm39) |
R2863W |
probably damaging |
Het |
| Dthd1 |
A |
G |
5: 62,971,384 (GRCm39) |
E69G |
possibly damaging |
Het |
| Elp1 |
A |
T |
4: 56,762,281 (GRCm39) |
I1106K |
probably damaging |
Het |
| Erich2 |
T |
A |
2: 70,370,028 (GRCm39) |
I402N |
probably damaging |
Het |
| Fam162b |
T |
C |
10: 51,461,598 (GRCm39) |
K155R |
probably damaging |
Het |
| Fhip1a |
G |
A |
3: 85,579,995 (GRCm39) |
P737S |
probably benign |
Het |
| Glb1l2 |
A |
T |
9: 26,678,744 (GRCm39) |
S466T |
probably benign |
Het |
| Kazn |
G |
A |
4: 141,844,508 (GRCm39) |
L402F |
probably benign |
Het |
| Kcnj13 |
A |
T |
1: 87,314,608 (GRCm39) |
S205T |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,117,091 (GRCm39) |
V2462E |
probably damaging |
Het |
| Lce1b |
A |
C |
3: 92,563,411 (GRCm39) |
C41G |
unknown |
Het |
| Lyar |
T |
A |
5: 38,383,339 (GRCm39) |
W77R |
probably damaging |
Het |
| Marchf11 |
G |
A |
15: 26,409,432 (GRCm39) |
R377Q |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,185,561 (GRCm39) |
F869L |
probably benign |
Het |
| Myom1 |
T |
A |
17: 71,329,887 (GRCm39) |
Y6* |
probably null |
Het |
| Myzap |
T |
C |
9: 71,466,207 (GRCm39) |
I150V |
probably benign |
Het |
| Nop14 |
C |
T |
5: 34,798,835 (GRCm39) |
|
probably null |
Het |
| Oprl1 |
T |
A |
2: 181,359,784 (GRCm39) |
|
probably benign |
Het |
| Pacsin1 |
T |
C |
17: 27,927,478 (GRCm39) |
L432P |
probably damaging |
Het |
| Peak1 |
A |
G |
9: 56,167,580 (GRCm39) |
L116P |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,547,782 (GRCm39) |
V482M |
probably benign |
Het |
| Pnliprp1 |
T |
A |
19: 58,723,416 (GRCm39) |
I269N |
probably damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,906,630 (GRCm39) |
D664E |
possibly damaging |
Het |
| Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
| Rps6kb2 |
G |
T |
19: 4,211,186 (GRCm39) |
T113K |
probably benign |
Het |
| Rrp7a |
A |
T |
15: 83,006,061 (GRCm39) |
I63N |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,900,847 (GRCm39) |
|
probably null |
Het |
| Slco1a7 |
T |
C |
6: 141,671,119 (GRCm39) |
D451G |
probably damaging |
Het |
| Stxbp5 |
C |
A |
10: 9,642,931 (GRCm39) |
G1056V |
probably damaging |
Het |
| Stxbp5 |
A |
C |
10: 9,642,923 (GRCm39) |
S1059A |
probably benign |
Het |
| Taldo1 |
T |
A |
7: 140,978,496 (GRCm39) |
S149T |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,442 (GRCm39) |
D45G |
possibly damaging |
Het |
| Trap1 |
A |
G |
16: 3,878,673 (GRCm39) |
Y220H |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,643,601 (GRCm39) |
D462G |
possibly damaging |
Het |
| Ttc21a |
A |
G |
9: 119,773,028 (GRCm39) |
E235G |
probably damaging |
Het |
| Tubb4a |
A |
G |
17: 57,387,833 (GRCm39) |
Y398H |
probably damaging |
Het |
| Ube2z |
A |
G |
11: 95,941,233 (GRCm39) |
F303S |
probably damaging |
Het |
| Vmn1r211 |
A |
G |
13: 23,036,254 (GRCm39) |
S138P |
probably damaging |
Het |
| Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
| Zfp93 |
T |
A |
7: 23,975,054 (GRCm39) |
C346* |
probably null |
Het |
| Zfp938 |
A |
T |
10: 82,063,400 (GRCm39) |
S52R |
possibly damaging |
Het |
| Zp1 |
A |
T |
19: 10,893,867 (GRCm39) |
L446Q |
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 |
|
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 |
|
|
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'- GTGGGGACAGACTCCTATTAAG -3'
(R):5'- ATCACCGGCAGAAATGGACC -3'
Sequencing Primer
(F):5'- CAGAATACTGCCTGGGATACAG -3'
(R):5'- CGGCAGAAATGGACCAACCTTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation