Incidental Mutation 'R9057:Tnrc6b'
| ID |
688774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc6b
|
| Ensembl Gene |
ENSMUSG00000047888 |
| Gene Name |
trinucleotide repeat containing 6b |
| Synonyms |
2700090M07Rik, A730065C02Rik, D230019K20Rik |
| MMRRC Submission |
068883-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R9057 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80595514-80825286 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80763349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 284
(A284T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067689]
|
| AlphaFold |
Q8BKI2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067689
AA Change: A284T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: A284T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
19 |
N/A |
INTRINSIC |
|
coiled coil region
|
33 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
207 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
363 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
416 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
487 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
488 |
667 |
6.43e-5 |
PROSPERO |
|
low complexity region
|
858 |
888 |
N/A |
INTRINSIC |
|
Pfam:Ago_hook
|
955 |
1095 |
1.2e-28 |
PFAM |
|
coiled coil region
|
1258 |
1307 |
N/A |
INTRINSIC |
|
Pfam:TNRC6-PABC_bdg
|
1339 |
1623 |
2.8e-112 |
PFAM |
|
Pfam:RRM_5
|
1641 |
1695 |
2e-7 |
PFAM |
|
low complexity region
|
1705 |
1721 |
N/A |
INTRINSIC |
|
low complexity region
|
1748 |
1769 |
N/A |
INTRINSIC |
|
low complexity region
|
1792 |
1809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228124
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele exhibit neonatal and postnatal lethality with decreased body weight and infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aagab |
T |
A |
9: 63,524,782 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
G |
A |
2: 25,331,584 (GRCm39) |
D1324N |
probably benign |
Het |
| Acat1 |
C |
T |
9: 53,503,300 (GRCm39) |
G180R |
probably damaging |
Het |
| AI837181 |
A |
C |
19: 5,476,730 (GRCm39) |
T298P |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,586,814 (GRCm39) |
D556E |
unknown |
Het |
| Ankle1 |
T |
A |
8: 71,858,961 (GRCm39) |
W65R |
probably benign |
Het |
| Ano5 |
A |
G |
7: 51,203,654 (GRCm39) |
N234S |
probably benign |
Het |
| Asb7 |
T |
A |
7: 66,309,395 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,068,102 (GRCm39) |
C1033* |
probably null |
Het |
| B4galnt1 |
A |
G |
10: 127,006,999 (GRCm39) |
D452G |
probably damaging |
Het |
| B4gat1 |
G |
T |
19: 5,089,056 (GRCm39) |
A18S |
possibly damaging |
Het |
| Bard1 |
A |
G |
1: 71,069,807 (GRCm39) |
Y724H |
probably damaging |
Het |
| Bcl9 |
A |
T |
3: 97,112,306 (GRCm39) |
M1383K |
possibly damaging |
Het |
| Cenpt |
C |
A |
8: 106,576,405 (GRCm39) |
*43L |
probably null |
Het |
| Ces2f |
C |
A |
8: 105,674,744 (GRCm39) |
H49N |
probably benign |
Het |
| Col17a1 |
A |
T |
19: 47,637,522 (GRCm39) |
D1245E |
probably damaging |
Het |
| Col19a1 |
G |
T |
1: 24,549,962 (GRCm39) |
H312N |
unknown |
Het |
| Cyb5d2 |
C |
T |
11: 72,679,924 (GRCm39) |
E124K |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,391,014 (GRCm39) |
A3291V |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,779,186 (GRCm39) |
D226E |
probably damaging |
Het |
| Ggt6 |
C |
T |
11: 72,328,067 (GRCm39) |
T189M |
probably damaging |
Het |
| Gm5592 |
C |
A |
7: 40,938,887 (GRCm39) |
S723Y |
possibly damaging |
Het |
| Golga3 |
C |
T |
5: 110,332,465 (GRCm39) |
T133M |
probably damaging |
Het |
| Heatr5a |
C |
T |
12: 51,986,420 (GRCm39) |
E598K |
probably damaging |
Het |
| Hfe |
T |
A |
13: 23,889,658 (GRCm39) |
I330F |
possibly damaging |
Het |
| Htt |
A |
G |
5: 35,009,454 (GRCm39) |
I1478M |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 67,833,186 (GRCm39) |
F449L |
probably damaging |
Het |
| Ints4 |
T |
C |
7: 97,158,987 (GRCm39) |
V453A |
possibly damaging |
Het |
| Ints6 |
A |
G |
14: 62,951,740 (GRCm39) |
|
probably null |
Het |
| Klrh1 |
T |
A |
6: 129,752,803 (GRCm39) |
M1L |
probably benign |
Het |
| Kpna4 |
G |
A |
3: 69,002,018 (GRCm39) |
T248M |
probably damaging |
Het |
| Lactb |
T |
C |
9: 66,874,977 (GRCm39) |
I372V |
possibly damaging |
Het |
| Mib1 |
T |
A |
18: 10,795,728 (GRCm39) |
D696E |
possibly damaging |
Het |
| Mpzl3 |
G |
A |
9: 44,979,592 (GRCm39) |
R181Q |
probably damaging |
Het |
| Mup12 |
A |
T |
4: 60,696,779 (GRCm39) |
I33N |
probably damaging |
Het |
| Myh10 |
A |
G |
11: 68,656,011 (GRCm39) |
I502V |
possibly damaging |
Het |
| Nacad |
C |
A |
11: 6,550,876 (GRCm39) |
V772F |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,456,218 (GRCm39) |
T2417N |
probably benign |
Het |
| Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
| Or2ag17 |
A |
T |
7: 106,389,296 (GRCm39) |
V304D |
probably damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,148 (GRCm39) |
E68G |
probably damaging |
Het |
| Pan2 |
A |
T |
10: 128,156,141 (GRCm39) |
H1133L |
probably damaging |
Het |
| Pgk2 |
A |
G |
17: 40,518,735 (GRCm39) |
V231A |
possibly damaging |
Het |
| Psmd12 |
G |
A |
11: 107,377,328 (GRCm39) |
R129Q |
probably null |
Het |
| Rpl23a |
G |
A |
11: 78,072,021 (GRCm39) |
R139C |
probably benign |
Het |
| Sars2 |
G |
T |
7: 28,446,246 (GRCm39) |
Q158H |
|
Het |
| Scd3 |
C |
T |
19: 44,224,340 (GRCm39) |
P191L |
probably damaging |
Het |
| Serac1 |
C |
A |
17: 6,111,890 (GRCm39) |
S262I |
probably damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,794,209 (GRCm39) |
T526A |
probably benign |
Het |
| Slc26a3 |
A |
T |
12: 31,520,958 (GRCm39) |
T721S |
probably benign |
Het |
| Slc8a1 |
A |
C |
17: 81,955,479 (GRCm39) |
S520A |
probably benign |
Het |
| Sp9 |
A |
T |
2: 73,103,613 (GRCm39) |
S56C |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,095,547 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
G |
12: 75,937,167 (GRCm39) |
L255R |
probably damaging |
Het |
| Tcp11l1 |
A |
G |
2: 104,528,026 (GRCm39) |
I156T |
probably damaging |
Het |
| Trappc14 |
A |
T |
5: 138,260,949 (GRCm39) |
V232E |
probably damaging |
Het |
| Tsc1 |
T |
A |
2: 28,575,874 (GRCm39) |
L919H |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,828,209 (GRCm39) |
H1454Q |
probably benign |
Het |
| Vps41 |
T |
A |
13: 19,027,702 (GRCm39) |
D537E |
probably benign |
Het |
| Wnt16 |
T |
A |
6: 22,288,823 (GRCm39) |
C47S |
probably damaging |
Het |
| Zfhx2 |
C |
T |
14: 55,310,027 (GRCm39) |
E840K |
possibly damaging |
Het |
| Zfp61 |
A |
T |
7: 23,990,702 (GRCm39) |
V483E |
probably benign |
Het |
| Zfp870 |
A |
T |
17: 33,102,793 (GRCm39) |
S179T |
probably benign |
Het |
|
| Other mutations in Tnrc6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01312:Tnrc6b
|
APN |
15 |
80,807,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01402:Tnrc6b
|
APN |
15 |
80,764,745 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01505:Tnrc6b
|
APN |
15 |
80,764,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01516:Tnrc6b
|
APN |
15 |
80,786,823 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01584:Tnrc6b
|
APN |
15 |
80,763,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01681:Tnrc6b
|
APN |
15 |
80,763,512 (GRCm39) |
splice site |
probably null |
|
|
IGL01909:Tnrc6b
|
APN |
15 |
80,786,184 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01943:Tnrc6b
|
APN |
15 |
80,811,896 (GRCm39) |
nonsense |
probably null |
|
|
IGL02253:Tnrc6b
|
APN |
15 |
80,760,742 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02260:Tnrc6b
|
APN |
15 |
80,764,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02437:Tnrc6b
|
APN |
15 |
80,764,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Tnrc6b
|
APN |
15 |
80,764,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02542:Tnrc6b
|
APN |
15 |
80,786,553 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
grosser
|
UTSW |
15 |
80,813,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
heiliger
|
UTSW |
15 |
80,811,942 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT1430001:Tnrc6b
|
UTSW |
15 |
80,813,387 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0092:Tnrc6b
|
UTSW |
15 |
80,802,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0165:Tnrc6b
|
UTSW |
15 |
80,742,871 (GRCm39) |
splice site |
probably null |
|
|
R0238:Tnrc6b
|
UTSW |
15 |
80,772,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Tnrc6b
|
UTSW |
15 |
80,772,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Tnrc6b
|
UTSW |
15 |
80,778,556 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0418:Tnrc6b
|
UTSW |
15 |
80,797,524 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0432:Tnrc6b
|
UTSW |
15 |
80,807,647 (GRCm39) |
splice site |
probably benign |
|
|
R0487:Tnrc6b
|
UTSW |
15 |
80,764,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0498:Tnrc6b
|
UTSW |
15 |
80,742,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0528:Tnrc6b
|
UTSW |
15 |
80,763,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0533:Tnrc6b
|
UTSW |
15 |
80,760,854 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0571:Tnrc6b
|
UTSW |
15 |
80,797,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Tnrc6b
|
UTSW |
15 |
80,668,959 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0659:Tnrc6b
|
UTSW |
15 |
80,807,647 (GRCm39) |
splice site |
probably benign |
|
|
R0884:Tnrc6b
|
UTSW |
15 |
80,786,756 (GRCm39) |
small deletion |
probably benign |
|
|
R1131:Tnrc6b
|
UTSW |
15 |
80,778,654 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1188:Tnrc6b
|
UTSW |
15 |
80,763,430 (GRCm39) |
missense |
probably benign |
|
|
R1479:Tnrc6b
|
UTSW |
15 |
80,771,233 (GRCm39) |
splice site |
probably null |
|
|
R1564:Tnrc6b
|
UTSW |
15 |
80,764,369 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1645:Tnrc6b
|
UTSW |
15 |
80,767,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1924:Tnrc6b
|
UTSW |
15 |
80,768,407 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1926:Tnrc6b
|
UTSW |
15 |
80,765,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Tnrc6b
|
UTSW |
15 |
80,764,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Tnrc6b
|
UTSW |
15 |
80,764,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Tnrc6b
|
UTSW |
15 |
80,764,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Tnrc6b
|
UTSW |
15 |
80,767,166 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3084:Tnrc6b
|
UTSW |
15 |
80,764,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3552:Tnrc6b
|
UTSW |
15 |
80,764,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3736:Tnrc6b
|
UTSW |
15 |
80,773,364 (GRCm39) |
splice site |
probably benign |
|
|
R3791:Tnrc6b
|
UTSW |
15 |
80,807,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4170:Tnrc6b
|
UTSW |
15 |
80,800,988 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4276:Tnrc6b
|
UTSW |
15 |
80,786,172 (GRCm39) |
missense |
probably benign |
0.42 |
|
R4519:Tnrc6b
|
UTSW |
15 |
80,764,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5380:Tnrc6b
|
UTSW |
15 |
80,763,766 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5470:Tnrc6b
|
UTSW |
15 |
80,800,912 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5590:Tnrc6b
|
UTSW |
15 |
80,760,703 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5982:Tnrc6b
|
UTSW |
15 |
80,765,017 (GRCm39) |
missense |
probably benign |
|
|
R6269:Tnrc6b
|
UTSW |
15 |
80,764,944 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6331:Tnrc6b
|
UTSW |
15 |
80,763,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6484:Tnrc6b
|
UTSW |
15 |
80,763,525 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6622:Tnrc6b
|
UTSW |
15 |
80,763,385 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6695:Tnrc6b
|
UTSW |
15 |
80,763,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Tnrc6b
|
UTSW |
15 |
80,802,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6776:Tnrc6b
|
UTSW |
15 |
80,808,320 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7159:Tnrc6b
|
UTSW |
15 |
80,771,223 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7210:Tnrc6b
|
UTSW |
15 |
80,813,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7287:Tnrc6b
|
UTSW |
15 |
80,763,742 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7402:Tnrc6b
|
UTSW |
15 |
80,768,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7479:Tnrc6b
|
UTSW |
15 |
80,773,327 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7533:Tnrc6b
|
UTSW |
15 |
80,811,942 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7571:Tnrc6b
|
UTSW |
15 |
80,813,594 (GRCm39) |
missense |
probably benign |
|
|
R7594:Tnrc6b
|
UTSW |
15 |
80,764,508 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7831:Tnrc6b
|
UTSW |
15 |
80,764,580 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8208:Tnrc6b
|
UTSW |
15 |
80,742,901 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8276:Tnrc6b
|
UTSW |
15 |
80,764,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8295:Tnrc6b
|
UTSW |
15 |
80,797,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8351:Tnrc6b
|
UTSW |
15 |
80,807,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8423:Tnrc6b
|
UTSW |
15 |
80,813,619 (GRCm39) |
missense |
unknown |
|
|
R8451:Tnrc6b
|
UTSW |
15 |
80,807,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8725:Tnrc6b
|
UTSW |
15 |
80,760,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Tnrc6b
|
UTSW |
15 |
80,802,290 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9029:Tnrc6b
|
UTSW |
15 |
80,763,179 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9240:Tnrc6b
|
UTSW |
15 |
80,764,262 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9450:Tnrc6b
|
UTSW |
15 |
80,764,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9539:Tnrc6b
|
UTSW |
15 |
80,760,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9646:Tnrc6b
|
UTSW |
15 |
80,773,266 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
X0020:Tnrc6b
|
UTSW |
15 |
80,767,198 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0025:Tnrc6b
|
UTSW |
15 |
80,765,368 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Tnrc6b
|
UTSW |
15 |
80,811,891 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Tnrc6b
|
UTSW |
15 |
80,742,900 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCACATCTGGGACAAGGTGATTG -3'
(R):5'- CCCTTCTTGGACCAATGCTG -3'
Sequencing Primer
(F):5'- CAAGGTGATTGTAGACGGGTC -3'
(R):5'- CAATGCTGGCCAGGCAGATG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation