Incidental Mutation 'R0487:Tnrc6b'
ID |
42376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnrc6b
|
Ensembl Gene |
ENSMUSG00000047888 |
Gene Name |
trinucleotide repeat containing 6b |
Synonyms |
2700090M07Rik, A730065C02Rik, D230019K20Rik |
MMRRC Submission |
038686-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R0487 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
80595514-80825286 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 80764876 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 793
(V793M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067689]
|
AlphaFold |
Q8BKI2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067689
AA Change: V793M
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000064336 Gene: ENSMUSG00000047888 AA Change: V793M
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: ENSMUST00000227546
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228071
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228320
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.6%
|
Validation Efficiency |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,281,687 (GRCm39) |
M3190L |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,637,154 (GRCm39) |
L3429H |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,991,484 (GRCm39) |
D4256G |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,984,515 (GRCm39) |
N1933S |
probably benign |
Het |
Amacr |
A |
G |
15: 10,984,835 (GRCm39) |
D151G |
probably benign |
Het |
Ano9 |
A |
T |
7: 140,687,762 (GRCm39) |
H255Q |
possibly damaging |
Het |
Asphd2 |
A |
T |
5: 112,539,501 (GRCm39) |
Y111N |
possibly damaging |
Het |
Cage1 |
T |
A |
13: 38,209,334 (GRCm39) |
K214N |
probably benign |
Het |
Cdkn2c |
A |
G |
4: 109,518,606 (GRCm39) |
L116P |
probably damaging |
Het |
Cltc |
C |
T |
11: 86,624,490 (GRCm39) |
R148H |
probably damaging |
Het |
Cmbl |
A |
G |
15: 31,582,176 (GRCm39) |
N58D |
probably damaging |
Het |
Cpa6 |
T |
C |
1: 10,479,487 (GRCm39) |
T249A |
possibly damaging |
Het |
Cpsf1 |
T |
A |
15: 76,481,202 (GRCm39) |
N1218I |
probably damaging |
Het |
Csf2rb |
T |
C |
15: 78,232,531 (GRCm39) |
S613P |
probably benign |
Het |
Ctnnd1 |
A |
G |
2: 84,439,411 (GRCm39) |
S761P |
probably damaging |
Het |
Cxcr6 |
A |
C |
9: 123,639,463 (GRCm39) |
I155L |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,819,155 (GRCm39) |
V1265A |
probably damaging |
Het |
Fam216a |
A |
G |
5: 122,508,576 (GRCm39) |
|
probably null |
Het |
Fgf10 |
T |
A |
13: 118,918,147 (GRCm39) |
|
probably null |
Het |
Fgf17 |
T |
C |
14: 70,875,996 (GRCm39) |
T79A |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gm1527 |
G |
T |
3: 28,980,828 (GRCm39) |
V643L |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,276,689 (GRCm39) |
Q1556L |
possibly damaging |
Het |
Hspa4l |
C |
T |
3: 40,738,758 (GRCm39) |
T616I |
possibly damaging |
Het |
Irag2 |
A |
G |
6: 145,110,986 (GRCm39) |
S264G |
probably benign |
Het |
Irgm1 |
T |
C |
11: 48,757,154 (GRCm39) |
D219G |
probably damaging |
Het |
Jcad |
A |
G |
18: 4,673,243 (GRCm39) |
D335G |
probably damaging |
Het |
Kcnh4 |
A |
G |
11: 100,641,084 (GRCm39) |
F455S |
probably damaging |
Het |
Khdrbs3 |
T |
C |
15: 68,889,210 (GRCm39) |
Y120H |
probably damaging |
Het |
Kndc1 |
A |
T |
7: 139,493,939 (GRCm39) |
T507S |
probably null |
Het |
Lepr |
G |
T |
4: 101,625,290 (GRCm39) |
E482* |
probably null |
Het |
Mcemp1 |
T |
A |
8: 3,717,507 (GRCm39) |
M146K |
probably benign |
Het |
Mllt10 |
A |
G |
2: 18,211,948 (GRCm39) |
T411A |
probably damaging |
Het |
Myh8 |
A |
T |
11: 67,192,837 (GRCm39) |
I1543L |
probably benign |
Het |
Myo1f |
T |
C |
17: 33,797,258 (GRCm39) |
S147P |
probably damaging |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Or5j1 |
C |
T |
2: 86,878,837 (GRCm39) |
V248I |
probably damaging |
Het |
Plaat1 |
G |
A |
16: 29,039,331 (GRCm39) |
|
probably null |
Het |
Plch2 |
G |
A |
4: 155,093,469 (GRCm39) |
R57C |
probably damaging |
Het |
Rbm20 |
G |
A |
19: 53,839,626 (GRCm39) |
G872R |
probably damaging |
Het |
Retsat |
A |
T |
6: 72,583,414 (GRCm39) |
I373F |
probably damaging |
Het |
Rnf145 |
T |
C |
11: 44,446,056 (GRCm39) |
F297L |
probably benign |
Het |
Ros1 |
A |
T |
10: 52,031,204 (GRCm39) |
M479K |
possibly damaging |
Het |
Rubcnl |
T |
A |
14: 75,273,521 (GRCm39) |
N244K |
probably benign |
Het |
Samhd1 |
A |
G |
2: 156,952,535 (GRCm39) |
F406L |
probably damaging |
Het |
Sdsl |
A |
T |
5: 120,597,533 (GRCm39) |
V258D |
probably damaging |
Het |
Sec24c |
C |
G |
14: 20,733,467 (GRCm39) |
P166A |
probably benign |
Het |
Sele |
C |
A |
1: 163,881,184 (GRCm39) |
Y461* |
probably null |
Het |
Slc22a1 |
G |
T |
17: 12,881,487 (GRCm39) |
S334* |
probably null |
Het |
Spem1 |
T |
G |
11: 69,712,691 (GRCm39) |
|
probably null |
Het |
Stat3 |
T |
C |
11: 100,794,469 (GRCm39) |
E280G |
probably damaging |
Het |
Stxbp4 |
T |
C |
11: 90,483,186 (GRCm39) |
H280R |
probably benign |
Het |
Tas2r129 |
G |
A |
6: 132,928,906 (GRCm39) |
C281Y |
probably benign |
Het |
Tas2r129 |
T |
G |
6: 132,928,907 (GRCm39) |
C281W |
probably benign |
Het |
Tcp11 |
T |
A |
17: 28,298,897 (GRCm39) |
|
probably null |
Het |
Vmn2r59 |
A |
C |
7: 41,696,528 (GRCm39) |
Y71* |
probably null |
Het |
Wdr35 |
T |
C |
12: 9,062,743 (GRCm39) |
|
probably null |
Het |
Zan |
A |
G |
5: 137,411,620 (GRCm39) |
|
probably null |
Het |
Zap70 |
G |
T |
1: 36,818,365 (GRCm39) |
V351L |
probably damaging |
Het |
Zfp609 |
G |
T |
9: 65,609,916 (GRCm39) |
Q1016K |
unknown |
Het |
Zfp641 |
C |
A |
15: 98,187,060 (GRCm39) |
V188L |
probably benign |
Het |
Zpld2 |
A |
T |
4: 133,930,089 (GRCm39) |
L72Q |
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 |
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 |
|
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'- TCAGCCTCGACAGAGTGGAAAGAC -3'
(R):5'- ATGAACCAGAAGCCTCTGGCTGTG -3'
Sequencing Primer
(F):5'- CCCCAAGAGCACAGGAGG -3'
(R):5'- ATTCCAGGAATTGGGCTGTC -3'
|
Posted On |
2013-05-23 |