Incidental Mutation 'R5470:Tnrc6b'
| ID |
433493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc6b
|
| Ensembl Gene |
ENSMUSG00000047888 |
| Gene Name |
trinucleotide repeat containing 6b |
| Synonyms |
|
| MMRRC Submission |
043031-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.175)
|
| Stock # |
R5470 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80711313-80941085 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 80916711 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1406
(R1406L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067689]
|
| AlphaFold |
Q8BKI2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067689
AA Change: R1406L
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: R1406L
| 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: ENSMUST00000226442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228071
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000228124
AA Change: R553L
|
| Meta Mutation Damage Score |
0.1193 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.4%
|
| Validation Efficiency |
99% (79/80) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
A |
12: 80,168,941 (GRCm38) |
I813F |
probably damaging |
Het |
| Aqr |
G |
A |
2: 114,157,575 (GRCm38) |
L169F |
probably damaging |
Het |
| Atp6v1d |
G |
A |
12: 78,845,284 (GRCm38) |
R182C |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,862,872 (GRCm38) |
A44S |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,148,542 (GRCm38) |
K389E |
possibly damaging |
Het |
| C530025M09Rik |
G |
A |
2: 149,831,125 (GRCm38) |
|
probably benign |
Het |
| Ccdc7b |
T |
A |
8: 129,072,600 (GRCm38) |
S53T |
possibly damaging |
Het |
| Chd8 |
A |
G |
14: 52,212,609 (GRCm38) |
F154L |
probably damaging |
Het |
| Cop1 |
A |
T |
1: 159,266,860 (GRCm38) |
|
probably benign |
Het |
| Cyp2c39 |
A |
G |
19: 39,513,530 (GRCm38) |
K121R |
possibly damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,372,619 (GRCm38) |
M256V |
probably benign |
Het |
| Deup1 |
T |
C |
9: 15,582,620 (GRCm38) |
|
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,753,168 (GRCm38) |
N709D |
probably benign |
Het |
| Dthd1 |
A |
G |
5: 62,818,766 (GRCm38) |
Y261C |
probably damaging |
Het |
| Ear-ps2 |
G |
A |
14: 44,047,060 (GRCm38) |
|
noncoding transcript |
Het |
| En2 |
C |
T |
5: 28,166,924 (GRCm38) |
T133M |
probably benign |
Het |
| Endou |
A |
G |
15: 97,718,955 (GRCm38) |
F229S |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,529,980 (GRCm38) |
H79L |
probably damaging |
Het |
| Fah |
C |
T |
7: 84,593,185 (GRCm38) |
|
probably null |
Het |
| Fetub |
C |
T |
16: 22,932,331 (GRCm38) |
R143C |
probably damaging |
Het |
| Fignl1 |
T |
A |
11: 11,802,640 (GRCm38) |
E138D |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,574,568 (GRCm38) |
L311P |
possibly damaging |
Het |
| Gdf9 |
T |
A |
11: 53,436,754 (GRCm38) |
V179E |
probably benign |
Het |
| Gm14129 |
G |
T |
2: 148,927,817 (GRCm38) |
|
noncoding transcript |
Het |
| Gorab |
A |
G |
1: 163,392,509 (GRCm38) |
I188T |
probably damaging |
Het |
| Gpr152 |
G |
A |
19: 4,143,129 (GRCm38) |
C223Y |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 78,821,579 (GRCm38) |
|
probably null |
Het |
| Hsd17b3 |
G |
T |
13: 64,073,899 (GRCm38) |
T104N |
probably damaging |
Het |
| Il6ra |
C |
T |
3: 89,885,995 (GRCm38) |
V283M |
probably benign |
Het |
| Klk1b16 |
A |
T |
7: 44,137,331 (GRCm38) |
I5F |
probably damaging |
Het |
| Krt74 |
G |
A |
15: 101,754,465 (GRCm38) |
|
noncoding transcript |
Het |
| Lrch3 |
T |
A |
16: 32,998,590 (GRCm38) |
N650K |
probably damaging |
Het |
| Ly96 |
A |
T |
1: 16,709,486 (GRCm38) |
E126D |
probably benign |
Het |
| Mgarp |
C |
A |
3: 51,391,285 (GRCm38) |
R66L |
possibly damaging |
Het |
| Naalad2 |
T |
A |
9: 18,330,851 (GRCm38) |
T586S |
probably damaging |
Het |
| Ndufaf3 |
T |
C |
9: 108,566,444 (GRCm38) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,249,438 (GRCm38) |
M3055T |
possibly damaging |
Het |
| Neo1 |
G |
T |
9: 58,931,067 (GRCm38) |
A478D |
probably damaging |
Het |
| Nmrk1 |
A |
T |
19: 18,639,884 (GRCm38) |
|
probably null |
Het |
| Nsl1 |
T |
C |
1: 191,080,540 (GRCm38) |
M184T |
probably benign |
Het |
| Nup133 |
T |
C |
8: 123,930,966 (GRCm38) |
N410S |
probably benign |
Het |
| Olfr23 |
T |
C |
11: 73,940,870 (GRCm38) |
I208T |
probably benign |
Het |
| Olfr399 |
A |
G |
11: 74,053,907 (GRCm38) |
I284T |
possibly damaging |
Het |
| Olfr610 |
T |
G |
7: 103,506,509 (GRCm38) |
I146L |
probably benign |
Het |
| Opalin |
A |
G |
19: 41,066,531 (GRCm38) |
S75P |
probably benign |
Het |
| Palb2 |
C |
A |
7: 122,114,351 (GRCm38) |
C903F |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,287,683 (GRCm38) |
W989R |
probably damaging |
Het |
| Pfkfb4 |
T |
A |
9: 109,027,593 (GRCm38) |
I389N |
probably damaging |
Het |
| Pitrm1 |
T |
C |
13: 6,553,270 (GRCm38) |
C119R |
probably benign |
Het |
| Plekha1 |
T |
C |
7: 130,908,376 (GRCm38) |
V45A |
probably damaging |
Het |
| Pold2 |
G |
A |
11: 5,873,048 (GRCm38) |
P376S |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 43,836,283 (GRCm38) |
D4G |
probably benign |
Het |
| Slc12a1 |
A |
T |
2: 125,170,714 (GRCm38) |
T299S |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,161,516 (GRCm38) |
H527Q |
probably benign |
Het |
| Slc22a8 |
G |
A |
19: 8,607,870 (GRCm38) |
R261H |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,610,026 (GRCm38) |
P10L |
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,474,114 (GRCm38) |
F681S |
probably benign |
Het |
| Sorcs2 |
A |
T |
5: 36,031,183 (GRCm38) |
H860Q |
probably benign |
Het |
| Strn |
A |
T |
17: 78,656,945 (GRCm38) |
H530Q |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,551,604 (GRCm38) |
R179G |
probably damaging |
Het |
| Tjp3 |
T |
C |
10: 81,279,547 (GRCm38) |
D350G |
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,716,973 (GRCm38) |
D2666G |
probably null |
Het |
| Ttn |
A |
T |
2: 76,729,864 (GRCm38) |
Y27652N |
probably benign |
Het |
| Utp20 |
T |
A |
10: 88,817,896 (GRCm38) |
E287D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,933,716 (GRCm38) |
I91V |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,139,699 (GRCm38) |
K76* |
probably null |
Het |
| Zfp689 |
C |
T |
7: 127,444,253 (GRCm38) |
A402T |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 122,333,793 (GRCm38) |
E207G |
probably damaging |
Het |
| Zhx2 |
G |
T |
15: 57,823,074 (GRCm38) |
R613L |
possibly damaging |
Het |
|
| Other mutations in Tnrc6b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01312:Tnrc6b
|
APN |
15 |
80,923,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01402:Tnrc6b
|
APN |
15 |
80,880,544 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01505:Tnrc6b
|
APN |
15 |
80,879,963 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01516:Tnrc6b
|
APN |
15 |
80,902,622 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL01584:Tnrc6b
|
APN |
15 |
80,879,682 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01681:Tnrc6b
|
APN |
15 |
80,879,311 (GRCm38) |
splice site |
probably null |
|
|
IGL01909:Tnrc6b
|
APN |
15 |
80,901,983 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL01943:Tnrc6b
|
APN |
15 |
80,927,695 (GRCm38) |
nonsense |
probably null |
|
|
IGL02253:Tnrc6b
|
APN |
15 |
80,876,541 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02260:Tnrc6b
|
APN |
15 |
80,880,171 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02437:Tnrc6b
|
APN |
15 |
80,880,457 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02541:Tnrc6b
|
APN |
15 |
80,879,831 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02542:Tnrc6b
|
APN |
15 |
80,902,352 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
grosser
|
UTSW |
15 |
80,929,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
heiliger
|
UTSW |
15 |
80,927,741 (GRCm38) |
critical splice donor site |
probably null |
|
|
PIT1430001:Tnrc6b
|
UTSW |
15 |
80,929,186 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0092:Tnrc6b
|
UTSW |
15 |
80,918,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0165:Tnrc6b
|
UTSW |
15 |
80,858,670 (GRCm38) |
splice site |
probably null |
|
|
R0238:Tnrc6b
|
UTSW |
15 |
80,887,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0238:Tnrc6b
|
UTSW |
15 |
80,887,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0257:Tnrc6b
|
UTSW |
15 |
80,894,355 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0418:Tnrc6b
|
UTSW |
15 |
80,913,323 (GRCm38) |
missense |
probably benign |
0.27 |
|
R0432:Tnrc6b
|
UTSW |
15 |
80,923,446 (GRCm38) |
splice site |
probably benign |
|
|
R0487:Tnrc6b
|
UTSW |
15 |
80,880,675 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0498:Tnrc6b
|
UTSW |
15 |
80,858,719 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0528:Tnrc6b
|
UTSW |
15 |
80,879,403 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0533:Tnrc6b
|
UTSW |
15 |
80,876,653 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0571:Tnrc6b
|
UTSW |
15 |
80,913,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0650:Tnrc6b
|
UTSW |
15 |
80,784,758 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0659:Tnrc6b
|
UTSW |
15 |
80,923,446 (GRCm38) |
splice site |
probably benign |
|
|
R0884:Tnrc6b
|
UTSW |
15 |
80,902,555 (GRCm38) |
small deletion |
probably benign |
|
|
R1131:Tnrc6b
|
UTSW |
15 |
80,894,453 (GRCm38) |
missense |
possibly damaging |
0.45 |
|
R1188:Tnrc6b
|
UTSW |
15 |
80,879,229 (GRCm38) |
missense |
probably benign |
|
|
R1479:Tnrc6b
|
UTSW |
15 |
80,887,032 (GRCm38) |
splice site |
probably null |
|
|
R1564:Tnrc6b
|
UTSW |
15 |
80,880,168 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R1645:Tnrc6b
|
UTSW |
15 |
80,882,958 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1924:Tnrc6b
|
UTSW |
15 |
80,884,206 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1926:Tnrc6b
|
UTSW |
15 |
80,881,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1928:Tnrc6b
|
UTSW |
15 |
80,880,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1965:Tnrc6b
|
UTSW |
15 |
80,880,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1966:Tnrc6b
|
UTSW |
15 |
80,880,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2072:Tnrc6b
|
UTSW |
15 |
80,882,965 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R3084:Tnrc6b
|
UTSW |
15 |
80,880,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3552:Tnrc6b
|
UTSW |
15 |
80,880,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3736:Tnrc6b
|
UTSW |
15 |
80,889,163 (GRCm38) |
splice site |
probably benign |
|
|
R3791:Tnrc6b
|
UTSW |
15 |
80,923,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4170:Tnrc6b
|
UTSW |
15 |
80,916,787 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4276:Tnrc6b
|
UTSW |
15 |
80,901,971 (GRCm38) |
missense |
probably benign |
0.42 |
|
R4519:Tnrc6b
|
UTSW |
15 |
80,880,247 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5380:Tnrc6b
|
UTSW |
15 |
80,879,565 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5590:Tnrc6b
|
UTSW |
15 |
80,876,502 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5982:Tnrc6b
|
UTSW |
15 |
80,880,816 (GRCm38) |
missense |
probably benign |
|
|
R6269:Tnrc6b
|
UTSW |
15 |
80,880,743 (GRCm38) |
missense |
probably benign |
0.42 |
|
R6331:Tnrc6b
|
UTSW |
15 |
80,879,614 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6484:Tnrc6b
|
UTSW |
15 |
80,879,324 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6622:Tnrc6b
|
UTSW |
15 |
80,879,184 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6695:Tnrc6b
|
UTSW |
15 |
80,879,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6728:Tnrc6b
|
UTSW |
15 |
80,918,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6776:Tnrc6b
|
UTSW |
15 |
80,924,119 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7159:Tnrc6b
|
UTSW |
15 |
80,887,022 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7210:Tnrc6b
|
UTSW |
15 |
80,929,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7287:Tnrc6b
|
UTSW |
15 |
80,879,541 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7402:Tnrc6b
|
UTSW |
15 |
80,884,300 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7479:Tnrc6b
|
UTSW |
15 |
80,889,126 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7533:Tnrc6b
|
UTSW |
15 |
80,927,741 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7571:Tnrc6b
|
UTSW |
15 |
80,929,393 (GRCm38) |
missense |
probably benign |
|
|
R7594:Tnrc6b
|
UTSW |
15 |
80,880,307 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7831:Tnrc6b
|
UTSW |
15 |
80,880,379 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R8208:Tnrc6b
|
UTSW |
15 |
80,858,700 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8276:Tnrc6b
|
UTSW |
15 |
80,880,717 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8295:Tnrc6b
|
UTSW |
15 |
80,913,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8351:Tnrc6b
|
UTSW |
15 |
80,923,490 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8423:Tnrc6b
|
UTSW |
15 |
80,929,418 (GRCm38) |
missense |
unknown |
|
|
R8451:Tnrc6b
|
UTSW |
15 |
80,923,490 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8725:Tnrc6b
|
UTSW |
15 |
80,876,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8872:Tnrc6b
|
UTSW |
15 |
80,918,089 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9029:Tnrc6b
|
UTSW |
15 |
80,878,978 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9057:Tnrc6b
|
UTSW |
15 |
80,879,148 (GRCm38) |
missense |
probably benign |
|
|
R9240:Tnrc6b
|
UTSW |
15 |
80,880,061 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9450:Tnrc6b
|
UTSW |
15 |
80,880,436 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9539:Tnrc6b
|
UTSW |
15 |
80,876,343 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9646:Tnrc6b
|
UTSW |
15 |
80,889,065 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
X0020:Tnrc6b
|
UTSW |
15 |
80,882,997 (GRCm38) |
missense |
probably benign |
0.16 |
|
X0025:Tnrc6b
|
UTSW |
15 |
80,881,167 (GRCm38) |
missense |
probably benign |
0.03 |
|
Z1088:Tnrc6b
|
UTSW |
15 |
80,927,690 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Tnrc6b
|
UTSW |
15 |
80,858,699 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACGGCCGTGCTTTTATTAATG -3'
(R):5'- CAGAGCCTGAATGTCATTGAAC -3'
Sequencing Primer
(F):5'- TATTCCCAACACAGGTCATAAGAGGG -3'
(R):5'- CATTGAACTATTCTAGGAAAGGCAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation