Incidental Mutation 'R2072:Tnrc6b'
ID |
227267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnrc6b
|
Ensembl Gene |
ENSMUSG00000047888 |
Gene Name |
trinucleotide repeat containing 6b |
Synonyms |
2700090M07Rik, A730065C02Rik, D230019K20Rik |
MMRRC Submission |
040077-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R2072 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
80595514-80825286 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 80767166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 977
(P977L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067689]
|
AlphaFold |
Q8BKI2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067689
AA Change: P977L
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000064336 Gene: ENSMUSG00000047888 AA Change: P977L
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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
C |
5: 64,056,080 (GRCm39) |
R272P |
possibly damaging |
Het |
Ablim3 |
A |
T |
18: 61,990,159 (GRCm39) |
D83E |
possibly damaging |
Het |
Aco1 |
G |
A |
4: 40,183,605 (GRCm39) |
G508S |
probably damaging |
Het |
Adamts13 |
C |
A |
2: 26,895,437 (GRCm39) |
T1176N |
probably benign |
Het |
Adgre5 |
T |
C |
8: 84,454,433 (GRCm39) |
T357A |
probably benign |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Ankrd33 |
T |
C |
15: 101,017,517 (GRCm39) |
V310A |
probably benign |
Het |
Armh3 |
A |
T |
19: 45,953,820 (GRCm39) |
I188K |
probably damaging |
Het |
Bnipl |
C |
T |
3: 95,151,522 (GRCm39) |
G232E |
probably damaging |
Het |
Btbd17 |
A |
T |
11: 114,682,778 (GRCm39) |
|
probably null |
Het |
Cacna1s |
G |
A |
1: 136,007,242 (GRCm39) |
V173I |
probably benign |
Het |
Ccdc122 |
T |
C |
14: 77,306,391 (GRCm39) |
|
probably null |
Het |
Ces1a |
T |
A |
8: 93,774,703 (GRCm39) |
N12Y |
probably benign |
Het |
Chrdl1 |
T |
C |
X: 142,086,414 (GRCm39) |
I231V |
probably benign |
Het |
Ciita |
C |
T |
16: 10,336,217 (GRCm39) |
T958I |
probably benign |
Het |
Cnot1 |
G |
T |
8: 96,466,461 (GRCm39) |
T1592K |
possibly damaging |
Het |
Dcaf15 |
T |
C |
8: 84,828,370 (GRCm39) |
D240G |
probably damaging |
Het |
Dlgap1 |
C |
T |
17: 70,969,765 (GRCm39) |
R524C |
probably damaging |
Het |
Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
Dsg1c |
A |
G |
18: 20,408,309 (GRCm39) |
M453V |
probably benign |
Het |
Ednrb |
G |
T |
14: 104,054,535 (GRCm39) |
N432K |
probably benign |
Het |
Fcgbp |
G |
A |
7: 27,819,814 (GRCm39) |
G2514S |
probably damaging |
Het |
Fez1 |
A |
G |
9: 36,779,241 (GRCm39) |
K306R |
probably benign |
Het |
Fmo4 |
A |
G |
1: 162,637,456 (GRCm39) |
V12A |
probably benign |
Het |
Fpgt |
T |
C |
3: 154,793,511 (GRCm39) |
Y172C |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,839,159 (GRCm39) |
F6976I |
possibly damaging |
Het |
Galnt12 |
C |
T |
4: 47,108,477 (GRCm39) |
R205* |
probably null |
Het |
Grik5 |
A |
T |
7: 24,714,738 (GRCm39) |
M752K |
possibly damaging |
Het |
Herc2 |
A |
G |
7: 55,876,712 (GRCm39) |
N4516S |
probably damaging |
Het |
Ifrd2 |
A |
T |
9: 107,469,744 (GRCm39) |
D439V |
probably damaging |
Het |
Igsf3 |
A |
G |
3: 101,346,831 (GRCm39) |
T609A |
probably benign |
Het |
Kif5a |
T |
C |
10: 127,081,238 (GRCm39) |
D232G |
probably damaging |
Het |
Lgi2 |
A |
G |
5: 52,695,847 (GRCm39) |
S371P |
probably damaging |
Het |
Marchf3 |
A |
T |
18: 56,944,925 (GRCm39) |
V56E |
possibly damaging |
Het |
Mib2 |
T |
C |
4: 155,744,158 (GRCm39) |
D168G |
probably damaging |
Het |
Nhs |
T |
A |
X: 160,625,717 (GRCm39) |
H544L |
probably damaging |
Het |
Nlrp2 |
A |
G |
7: 5,328,005 (GRCm39) |
S683P |
probably damaging |
Het |
Onecut3 |
T |
G |
10: 80,330,848 (GRCm39) |
L3V |
unknown |
Het |
Or12j2 |
T |
C |
7: 139,916,566 (GRCm39) |
S264P |
possibly damaging |
Het |
Or4c35 |
C |
A |
2: 89,808,557 (GRCm39) |
T145K |
probably benign |
Het |
Or5b102 |
A |
T |
19: 13,041,044 (GRCm39) |
M90L |
probably benign |
Het |
Otogl |
C |
T |
10: 107,616,904 (GRCm39) |
C1791Y |
probably damaging |
Het |
Paip1 |
T |
C |
13: 119,566,798 (GRCm39) |
V128A |
possibly damaging |
Het |
Pcnx2 |
A |
T |
8: 126,488,481 (GRCm39) |
C1688S |
possibly damaging |
Het |
Pdzd2 |
A |
G |
15: 12,385,905 (GRCm39) |
L955P |
probably damaging |
Het |
Phlpp2 |
T |
C |
8: 110,655,124 (GRCm39) |
S605P |
possibly damaging |
Het |
Pkhd1l1 |
G |
T |
15: 44,422,035 (GRCm39) |
A3102S |
probably damaging |
Het |
Plxnb2 |
G |
T |
15: 89,042,654 (GRCm39) |
R1545S |
probably damaging |
Het |
Ppp4c |
T |
C |
7: 126,386,520 (GRCm39) |
|
probably null |
Het |
Prune1 |
C |
T |
3: 95,162,719 (GRCm39) |
R318Q |
probably benign |
Het |
Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
Psg27 |
A |
G |
7: 18,298,934 (GRCm39) |
L129P |
probably benign |
Het |
Psmc6 |
A |
G |
14: 45,567,323 (GRCm39) |
K7E |
possibly damaging |
Het |
Reln |
A |
T |
5: 22,124,175 (GRCm39) |
V2777E |
probably damaging |
Het |
Rigi |
A |
T |
4: 40,224,069 (GRCm39) |
|
probably null |
Het |
Scn11a |
G |
T |
9: 119,640,274 (GRCm39) |
A207E |
possibly damaging |
Het |
Slc5a5 |
C |
T |
8: 71,345,083 (GRCm39) |
G75R |
possibly damaging |
Het |
Smarcd2 |
A |
T |
11: 106,156,133 (GRCm39) |
L42* |
probably null |
Het |
Smg1 |
T |
C |
7: 117,762,389 (GRCm39) |
|
probably benign |
Het |
Smurf2 |
T |
A |
11: 106,732,595 (GRCm39) |
Q335L |
probably benign |
Het |
Sspo |
A |
T |
6: 48,450,451 (GRCm39) |
H2580L |
probably benign |
Het |
Stk3 |
T |
C |
15: 34,959,195 (GRCm39) |
M256V |
possibly damaging |
Het |
Syt1 |
A |
G |
10: 108,419,833 (GRCm39) |
I276T |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Taar9 |
A |
T |
10: 23,984,877 (GRCm39) |
C186S |
probably damaging |
Het |
Trp53bp2 |
A |
G |
1: 182,286,432 (GRCm39) |
T1091A |
probably benign |
Het |
Ttn |
G |
T |
2: 76,768,120 (GRCm39) |
T2947N |
probably damaging |
Het |
Ube2q1 |
T |
C |
3: 89,686,878 (GRCm39) |
|
probably null |
Het |
Ube3c |
A |
G |
5: 29,840,638 (GRCm39) |
E671G |
probably benign |
Het |
Upf3a |
A |
G |
8: 13,835,850 (GRCm39) |
K56R |
possibly damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,619 (GRCm39) |
M695K |
possibly damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,182,493 (GRCm39) |
M402K |
possibly damaging |
Het |
Zfp354b |
T |
A |
11: 50,813,279 (GRCm39) |
R549* |
probably null |
Het |
Zfp37 |
A |
T |
4: 62,109,945 (GRCm39) |
M411K |
probably damaging |
Het |
Zfp747 |
T |
A |
7: 126,973,142 (GRCm39) |
T343S |
possibly damaging |
Het |
Zfp853 |
T |
A |
5: 143,275,137 (GRCm39) |
Q161L |
unknown |
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 |
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'- TGTAGCACAGACAGTTCTTTTGC -3'
(R):5'- GCCTATGAGACAAGTTGCCAC -3'
Sequencing Primer
(F):5'- ACTGGGTCAGAAGTCATGTACATTG -3'
(R):5'- CTTGCAAACCAAGTCTACTTACTGG -3'
|
Posted On |
2014-09-17 |