Incidental Mutation 'R1479:Tnrc6b'
ID |
164235 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnrc6b
|
Ensembl Gene |
ENSMUSG00000047888 |
Gene Name |
trinucleotide repeat containing 6b |
Synonyms |
2700090M07Rik, A730065C02Rik, D230019K20Rik |
MMRRC Submission |
039532-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R1479 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
80595514-80825286 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 80771233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153748
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067689]
[ENSMUST00000227449]
|
AlphaFold |
Q8BKI2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000067689
AA Change: L1106Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000064336 Gene: ENSMUSG00000047888 AA Change: L1106Q
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 null
Transcript: ENSMUST00000227449
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227546
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228071
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228124
AA Change: L253Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228320
|
Meta Mutation Damage Score |
0.1614 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310030G06Rik |
T |
A |
9: 50,652,601 (GRCm39) |
T58S |
possibly damaging |
Het |
Alox12e |
A |
G |
11: 70,211,608 (GRCm39) |
V252A |
probably benign |
Het |
Anks6 |
T |
C |
4: 47,044,874 (GRCm39) |
D344G |
probably damaging |
Het |
Atg14 |
A |
T |
14: 47,784,696 (GRCm39) |
|
probably null |
Het |
Bcr |
G |
T |
10: 74,896,957 (GRCm39) |
E34* |
probably null |
Het |
Birc6 |
C |
T |
17: 74,941,848 (GRCm39) |
T2728M |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,201,059 (GRCm39) |
N326K |
probably benign |
Het |
Brme1 |
C |
A |
8: 84,889,026 (GRCm39) |
T123K |
possibly damaging |
Het |
Ccdc188 |
A |
C |
16: 18,037,154 (GRCm39) |
T242P |
possibly damaging |
Het |
Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
Cdin1 |
T |
A |
2: 115,469,494 (GRCm39) |
N74K |
probably benign |
Het |
Chsy3 |
A |
T |
18: 59,541,985 (GRCm39) |
E374D |
probably benign |
Het |
Clca4b |
A |
T |
3: 144,621,229 (GRCm39) |
V615E |
probably damaging |
Het |
Clcnka |
C |
A |
4: 141,116,758 (GRCm39) |
A498S |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,721,282 (GRCm39) |
C1450R |
probably damaging |
Het |
Cul7 |
C |
A |
17: 46,962,673 (GRCm39) |
D101E |
probably damaging |
Het |
Cyp27b1 |
G |
A |
10: 126,887,580 (GRCm39) |
|
probably null |
Het |
Cyp2d22 |
A |
G |
15: 82,256,137 (GRCm39) |
S404P |
probably damaging |
Het |
Dclk3 |
G |
A |
9: 111,297,614 (GRCm39) |
S386N |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,854,953 (GRCm39) |
D1953N |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,303,596 (GRCm39) |
|
probably null |
Het |
Egfem1 |
A |
G |
3: 29,711,314 (GRCm39) |
N241D |
probably damaging |
Het |
Entpd7 |
T |
C |
19: 43,710,279 (GRCm39) |
F312S |
probably damaging |
Het |
Esp34 |
T |
A |
17: 38,865,219 (GRCm39) |
|
probably benign |
Het |
Foxd2 |
T |
A |
4: 114,765,115 (GRCm39) |
T302S |
unknown |
Het |
Fzd6 |
A |
T |
15: 38,894,394 (GRCm39) |
N187Y |
probably damaging |
Het |
Gbp9 |
C |
T |
5: 105,241,930 (GRCm39) |
|
probably benign |
Het |
Gna14 |
T |
C |
19: 16,511,133 (GRCm39) |
S61P |
possibly damaging |
Het |
Grap |
A |
T |
11: 61,551,124 (GRCm39) |
Y52F |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,500,320 (GRCm39) |
Y125C |
probably damaging |
Het |
Hax1 |
C |
A |
3: 89,903,164 (GRCm39) |
E212D |
probably damaging |
Het |
Hecw1 |
A |
C |
13: 14,491,077 (GRCm39) |
S638R |
probably benign |
Het |
Hira |
A |
T |
16: 18,715,219 (GRCm39) |
K39M |
probably damaging |
Het |
Hoxa2 |
T |
A |
6: 52,140,320 (GRCm39) |
D222V |
probably damaging |
Het |
Hycc2 |
T |
A |
1: 58,591,427 (GRCm39) |
R91* |
probably null |
Het |
Jph2 |
C |
T |
2: 163,181,191 (GRCm39) |
V658M |
possibly damaging |
Het |
Kansl1 |
A |
T |
11: 104,233,242 (GRCm39) |
S762T |
probably damaging |
Het |
Kat6b |
T |
A |
14: 21,669,024 (GRCm39) |
C267S |
probably benign |
Het |
Klk6 |
A |
G |
7: 43,481,058 (GRCm39) |
N250S |
probably benign |
Het |
Lbp |
T |
C |
2: 158,161,634 (GRCm39) |
L232S |
probably damaging |
Het |
Lcn9 |
A |
T |
2: 25,713,715 (GRCm39) |
|
probably benign |
Het |
Lcp2 |
A |
G |
11: 34,025,068 (GRCm39) |
H213R |
probably benign |
Het |
Lrrc9 |
A |
T |
12: 72,507,599 (GRCm39) |
K367* |
probably null |
Het |
Lyst |
A |
G |
13: 13,809,067 (GRCm39) |
I246V |
probably benign |
Het |
Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
Mst1r |
T |
C |
9: 107,790,544 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,733,020 (GRCm39) |
E909G |
probably benign |
Het |
Nipbl |
A |
T |
15: 8,379,773 (GRCm39) |
D1006E |
probably benign |
Het |
Or4k5 |
C |
A |
14: 50,386,245 (GRCm39) |
V29F |
probably benign |
Het |
Or5d37 |
A |
G |
2: 87,923,630 (GRCm39) |
F217L |
probably benign |
Het |
Or8d1b |
A |
T |
9: 38,887,058 (GRCm39) |
I29F |
probably benign |
Het |
Otog |
A |
G |
7: 45,945,402 (GRCm39) |
I2220V |
possibly damaging |
Het |
Pcx |
T |
A |
19: 4,652,052 (GRCm39) |
I99N |
probably damaging |
Het |
Pi4ka |
C |
T |
16: 17,191,264 (GRCm39) |
G211D |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,814,883 (GRCm39) |
S614G |
probably benign |
Het |
Prdx6 |
G |
A |
1: 161,071,833 (GRCm39) |
A111V |
probably damaging |
Het |
Prorp |
T |
A |
12: 55,426,172 (GRCm39) |
D138E |
probably damaging |
Het |
Prss51 |
G |
A |
14: 64,333,619 (GRCm39) |
|
probably null |
Het |
Psmd6 |
C |
T |
14: 14,116,819 (GRCm38) |
|
probably benign |
Het |
Pten |
T |
A |
19: 32,797,250 (GRCm39) |
L345Q |
probably damaging |
Het |
Qrich2 |
T |
G |
11: 116,332,311 (GRCm39) |
H2295P |
probably benign |
Het |
Rgs11 |
T |
C |
17: 26,427,257 (GRCm39) |
|
probably null |
Het |
Rgs6 |
A |
G |
12: 83,163,018 (GRCm39) |
E408G |
probably damaging |
Het |
Septin4 |
G |
T |
11: 87,458,244 (GRCm39) |
R206L |
probably damaging |
Het |
Slc38a7 |
T |
C |
8: 96,575,122 (GRCm39) |
T53A |
probably benign |
Het |
Spata31g1 |
A |
C |
4: 42,972,543 (GRCm39) |
K625N |
possibly damaging |
Het |
Sptbn1 |
A |
G |
11: 30,063,909 (GRCm39) |
C1957R |
probably damaging |
Het |
Sumf1 |
T |
C |
6: 108,153,019 (GRCm39) |
Y123C |
probably damaging |
Het |
Ttc21a |
C |
A |
9: 119,786,013 (GRCm39) |
D670E |
probably benign |
Het |
Ttn |
A |
G |
2: 76,574,855 (GRCm39) |
V25346A |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,153,151 (GRCm39) |
T2070A |
possibly damaging |
Het |
Vmn2r57 |
C |
A |
7: 41,077,254 (GRCm39) |
W304L |
possibly damaging |
Het |
Vps13a |
T |
C |
19: 16,727,478 (GRCm39) |
|
probably benign |
Het |
Zfp647 |
A |
G |
15: 76,795,403 (GRCm39) |
V419A |
possibly 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 |
|
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 |
|
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'- GGTGAACTCTCAGCTTTGCATTTTCAG -3'
(R):5'- ACATCAGTACAGCTATGGACAGAGGAC -3'
Sequencing Primer
(F):5'- GCATTTTCAGTGTGGTTTATAGTTTG -3'
(R):5'- aaaaatGATGTGCAGACACTAGTAAC -3'
|
Posted On |
2014-03-28 |