Incidental Mutation 'R0165:Tnrc6b'
| ID |
60682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc6b
|
| Ensembl Gene |
ENSMUSG00000047888 |
| Gene Name |
trinucleotide repeat containing 6b |
| Synonyms |
2700090M07Rik, A730065C02Rik, D230019K20Rik |
| MMRRC Submission |
038441-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R0165 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80595514-80825286 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 80742871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067689]
|
| AlphaFold |
Q8BKI2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067689
|
| SMART Domains |
Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
| 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 |
noncoding transcript
Transcript: ENSMUST00000226857
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228071
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.2%
- 20x: 91.4%
|
| Validation Efficiency |
96% (81/84) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,213,924 (GRCm39) |
I717T |
possibly damaging |
Het |
| 6430571L13Rik |
A |
G |
9: 107,223,383 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
A |
7: 119,950,126 (GRCm39) |
|
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,558,499 (GRCm39) |
|
probably benign |
Het |
| Agap3 |
A |
G |
5: 24,684,743 (GRCm39) |
T544A |
probably damaging |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Akr1c20 |
T |
C |
13: 4,573,295 (GRCm39) |
T7A |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,517,445 (GRCm39) |
S459P |
probably benign |
Het |
| Armh4 |
A |
G |
14: 50,011,243 (GRCm39) |
S155P |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,718,223 (GRCm39) |
|
probably null |
Het |
| Brd1 |
T |
C |
15: 88,613,980 (GRCm39) |
N305S |
probably damaging |
Het |
| Catip |
T |
A |
1: 74,407,628 (GRCm39) |
L320Q |
possibly damaging |
Het |
| Cplane1 |
G |
A |
15: 8,245,866 (GRCm39) |
V1413M |
probably damaging |
Het |
| Cttnbp2 |
G |
A |
6: 18,435,409 (GRCm39) |
Q150* |
probably null |
Het |
| Cyp2d22 |
T |
G |
15: 82,257,481 (GRCm39) |
N228T |
probably benign |
Het |
| Dapk1 |
T |
C |
13: 60,909,407 (GRCm39) |
V1340A |
probably benign |
Het |
| Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
G |
A |
14: 45,833,049 (GRCm39) |
T849M |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 72,998,306 (GRCm39) |
S3987P |
probably benign |
Het |
| Dst |
C |
A |
1: 34,193,727 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
T |
C |
4: 141,049,203 (GRCm39) |
|
probably null |
Het |
| Ern2 |
T |
C |
7: 121,779,002 (GRCm39) |
T281A |
probably benign |
Het |
| Extl1 |
A |
G |
4: 134,085,014 (GRCm39) |
F652S |
probably damaging |
Het |
| Gckr |
A |
G |
5: 31,484,292 (GRCm39) |
S541G |
possibly damaging |
Het |
| Gdap1l1 |
A |
G |
2: 163,293,419 (GRCm39) |
|
probably null |
Het |
| Gm7535 |
T |
C |
17: 18,131,437 (GRCm39) |
|
probably benign |
Het |
| Gmps |
T |
A |
3: 63,901,375 (GRCm39) |
I398N |
probably damaging |
Het |
| Igf2r |
A |
G |
17: 12,917,414 (GRCm39) |
V1556A |
probably benign |
Het |
| Il3ra |
T |
A |
14: 14,350,967 (GRCm38) |
N283K |
probably benign |
Het |
| Ist1 |
A |
G |
8: 110,401,998 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,657,867 (GRCm39) |
I1934F |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,335,762 (GRCm39) |
M1118K |
possibly damaging |
Het |
| Lpin2 |
C |
T |
17: 71,553,514 (GRCm39) |
S846L |
probably damaging |
Het |
| Lrrc4b |
C |
A |
7: 44,111,739 (GRCm39) |
T537K |
probably damaging |
Het |
| Ltn1 |
G |
A |
16: 87,202,407 (GRCm39) |
|
probably benign |
Het |
| Meiob |
A |
G |
17: 25,054,135 (GRCm39) |
T401A |
probably benign |
Het |
| Mettl21e |
G |
A |
1: 44,250,283 (GRCm39) |
T41M |
probably damaging |
Het |
| Miga1 |
C |
T |
3: 151,996,480 (GRCm39) |
E323K |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,198,907 (GRCm39) |
|
probably null |
Het |
| Or5p62 |
T |
C |
7: 107,771,882 (GRCm39) |
D23G |
probably benign |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,540,208 (GRCm39) |
Y274H |
probably damaging |
Het |
| Prom2 |
A |
T |
2: 127,381,434 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,099,974 (GRCm39) |
M1826K |
probably benign |
Het |
| Qki |
T |
A |
17: 10,457,892 (GRCm39) |
D159V |
probably damaging |
Het |
| Rab12 |
A |
T |
17: 66,807,312 (GRCm39) |
I139N |
probably damaging |
Het |
| Rab25 |
T |
A |
3: 88,455,362 (GRCm39) |
E7D |
probably benign |
Het |
| Rala |
A |
T |
13: 18,063,174 (GRCm39) |
V139E |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,230,407 (GRCm39) |
|
probably benign |
Het |
| Rbl2 |
T |
A |
8: 91,800,804 (GRCm39) |
Y89N |
probably damaging |
Het |
| Rho |
A |
T |
6: 115,909,188 (GRCm39) |
I75F |
probably damaging |
Het |
| Slc38a4 |
C |
A |
15: 96,906,830 (GRCm39) |
A303S |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,245,670 (GRCm39) |
D551G |
probably null |
Het |
| Smyd3 |
T |
C |
1: 178,871,437 (GRCm39) |
N314S |
probably benign |
Het |
| Speer4f1 |
T |
A |
5: 17,684,512 (GRCm39) |
L180* |
probably null |
Het |
| Stat6 |
T |
C |
10: 127,493,096 (GRCm39) |
V576A |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,984,803 (GRCm39) |
D127G |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 4,983,096 (GRCm39) |
R8610G |
probably benign |
Het |
| Tbc1d7 |
A |
C |
13: 43,306,678 (GRCm39) |
|
probably null |
Het |
| Tcf3 |
C |
T |
10: 80,248,831 (GRCm39) |
R548Q |
probably damaging |
Het |
| Tlr9 |
C |
A |
9: 106,103,286 (GRCm39) |
A859D |
probably benign |
Het |
| Tmem106c |
T |
A |
15: 97,866,020 (GRCm39) |
|
probably benign |
Het |
| Tmprss11c |
A |
T |
5: 86,379,786 (GRCm39) |
|
probably benign |
Het |
| Tnfsf18 |
A |
G |
1: 161,322,300 (GRCm39) |
R7G |
probably benign |
Het |
| Trpm7 |
A |
T |
2: 126,639,433 (GRCm39) |
F1684I |
probably damaging |
Het |
| Ttbk1 |
C |
A |
17: 46,789,864 (GRCm39) |
R133L |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,551,686 (GRCm39) |
S22962P |
probably damaging |
Het |
| Ube2q1 |
T |
A |
3: 89,683,460 (GRCm39) |
L135Q |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vwce |
T |
C |
19: 10,637,337 (GRCm39) |
|
probably benign |
Het |
| Wdhd1 |
A |
G |
14: 47,504,525 (GRCm39) |
S350P |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,752,604 (GRCm39) |
S560P |
probably damaging |
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 |
|
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 |
|
R9057:Tnrc6b
|
UTSW |
15 |
80,763,349 (GRCm39) |
missense |
probably benign |
|
|
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'- GGCATCTTTGAAACCAAGCCTATGTG -3'
(R):5'- ACTAGAACCTGTCTGAGGGCAGTTAC -3'
Sequencing Primer
(F):5'- GCCTATGTGTGAATAGTTTGTGAAAG -3'
(R):5'- ACTAATGAATGCCTCAGGTGTG -3'
|
| Posted On |
2013-07-24 |
Incidental Mutation