Incidental Mutation 'R0528:Tnrc6b'
ID |
49017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnrc6b
|
Ensembl Gene |
ENSMUSG00000047888 |
Gene Name |
trinucleotide repeat containing 6b |
Synonyms |
2700090M07Rik, A730065C02Rik, D230019K20Rik |
MMRRC Submission |
038720-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R0528 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
80595514-80825286 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80763604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 369
(S369P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064336
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067689]
|
AlphaFold |
Q8BKI2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000067689
AA Change: S369P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000064336 Gene: ENSMUSG00000047888 AA Change: S369P
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
|
Meta Mutation Damage Score |
0.0601 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
Validation Efficiency |
96% (65/68) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
T |
G |
10: 79,838,848 (GRCm39) |
W674G |
probably damaging |
Het |
Abcc9 |
G |
A |
6: 142,638,606 (GRCm39) |
H103Y |
probably damaging |
Het |
Ano7 |
A |
G |
1: 93,323,224 (GRCm39) |
N495S |
probably null |
Het |
Aoc1l3 |
T |
A |
6: 48,964,965 (GRCm39) |
D324E |
probably benign |
Het |
Ash1l |
A |
G |
3: 88,889,584 (GRCm39) |
N488D |
probably benign |
Het |
Astn2 |
A |
G |
4: 65,563,119 (GRCm39) |
|
probably benign |
Het |
Atraid |
T |
A |
5: 31,209,796 (GRCm39) |
|
probably benign |
Het |
Baz2b |
T |
C |
2: 59,767,083 (GRCm39) |
R866G |
probably damaging |
Het |
Cep164 |
T |
A |
9: 45,688,234 (GRCm39) |
|
probably benign |
Het |
Clec4f |
G |
A |
6: 83,629,776 (GRCm39) |
Q261* |
probably null |
Het |
Cpne4 |
A |
T |
9: 104,563,640 (GRCm39) |
N6Y |
probably damaging |
Het |
Dhx38 |
G |
T |
8: 110,289,293 (GRCm39) |
Q36K |
probably benign |
Het |
Dna2 |
C |
A |
10: 62,793,910 (GRCm39) |
Q341K |
probably benign |
Het |
Dynap |
A |
G |
18: 70,375,165 (GRCm39) |
|
probably benign |
Het |
Eif3l |
T |
C |
15: 78,973,809 (GRCm39) |
V408A |
probably benign |
Het |
Foxi3 |
T |
A |
6: 70,934,122 (GRCm39) |
I203N |
probably damaging |
Het |
Gcc2 |
T |
A |
10: 58,134,511 (GRCm39) |
L1495Q |
probably damaging |
Het |
Gpr158 |
A |
G |
2: 21,830,019 (GRCm39) |
D688G |
probably damaging |
Het |
Hcfc2 |
C |
A |
10: 82,575,079 (GRCm39) |
T246K |
probably damaging |
Het |
Hdc |
C |
T |
2: 126,458,152 (GRCm39) |
E57K |
probably benign |
Het |
Iqsec3 |
G |
C |
6: 121,389,743 (GRCm39) |
|
probably benign |
Het |
Islr2 |
T |
A |
9: 58,106,645 (GRCm39) |
E205V |
probably damaging |
Het |
Klf9 |
T |
C |
19: 23,119,498 (GRCm39) |
L127P |
probably benign |
Het |
Lamc2 |
A |
T |
1: 152,999,840 (GRCm39) |
L1173Q |
probably damaging |
Het |
Lipe |
G |
A |
7: 25,097,901 (GRCm39) |
T14I |
possibly damaging |
Het |
Lnpep |
A |
G |
17: 17,751,394 (GRCm39) |
|
probably benign |
Het |
Lrrc15 |
A |
G |
16: 30,092,566 (GRCm39) |
S258P |
probably damaging |
Het |
Macc1 |
A |
T |
12: 119,410,780 (GRCm39) |
Y516F |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,343,630 (GRCm39) |
T718A |
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,862,612 (GRCm39) |
L1439P |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,111,445 (GRCm39) |
D1628G |
probably damaging |
Het |
Naca |
C |
T |
10: 127,879,162 (GRCm39) |
T1398I |
probably benign |
Het |
Or1f12 |
A |
G |
13: 21,721,416 (GRCm39) |
F238S |
possibly damaging |
Het |
Or2a54 |
A |
T |
6: 43,093,150 (GRCm39) |
H158L |
possibly damaging |
Het |
Padi4 |
A |
G |
4: 140,496,740 (GRCm39) |
V52A |
possibly damaging |
Het |
Paqr5 |
G |
A |
9: 61,863,527 (GRCm39) |
T251I |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,768,967 (GRCm39) |
D1611G |
probably damaging |
Het |
Prss12 |
G |
A |
3: 123,276,445 (GRCm39) |
R358K |
probably benign |
Het |
Racgap1 |
A |
T |
15: 99,526,587 (GRCm39) |
H325Q |
probably damaging |
Het |
Rbm12b1 |
A |
G |
4: 12,145,657 (GRCm39) |
H543R |
probably benign |
Het |
Rc3h1 |
A |
T |
1: 160,795,228 (GRCm39) |
N1076I |
probably damaging |
Het |
Rp1 |
A |
G |
1: 4,415,088 (GRCm39) |
L2008P |
possibly damaging |
Het |
Rsph3a |
A |
G |
17: 8,164,919 (GRCm39) |
H93R |
possibly damaging |
Het |
Sbf1 |
C |
T |
15: 89,172,915 (GRCm39) |
R1840H |
probably damaging |
Het |
Skic8 |
T |
A |
9: 54,630,219 (GRCm39) |
|
probably benign |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,937,085 (GRCm39) |
S56P |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,561,346 (GRCm39) |
M1304L |
probably damaging |
Het |
Tmprss11b |
G |
T |
5: 86,819,753 (GRCm39) |
R9S |
probably damaging |
Het |
Tnfrsf21 |
T |
A |
17: 43,348,505 (GRCm39) |
I39N |
probably benign |
Het |
Tpra1 |
T |
C |
6: 88,887,372 (GRCm39) |
V217A |
probably benign |
Het |
Uckl1 |
G |
C |
2: 181,212,283 (GRCm39) |
|
probably benign |
Het |
Vmn1r199 |
A |
T |
13: 22,566,736 (GRCm39) |
Q10L |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,879,506 (GRCm39) |
S265P |
possibly damaging |
Het |
Vwa5b1 |
A |
T |
4: 138,321,662 (GRCm39) |
L377Q |
probably damaging |
Het |
Wrap73 |
A |
G |
4: 154,229,776 (GRCm39) |
D49G |
probably damaging |
Het |
Zfp764 |
T |
A |
7: 127,004,051 (GRCm39) |
Q360L |
possibly damaging |
Het |
Zfp846 |
G |
A |
9: 20,499,224 (GRCm39) |
|
probably benign |
Het |
Zranb2 |
T |
C |
3: 157,240,096 (GRCm39) |
I14T |
probably benign |
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 |
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'- CCCAAGGCTAAGTCTGTTCAACCTC -3'
(R):5'- AGCCCATTCCAAAGGGCATTCC -3'
Sequencing Primer
(F):5'- TAAGTCTGTTCAACCTCCCAAC -3'
(R):5'- CCAAAGGGCATTCCCTTATTTTC -3'
|
Posted On |
2013-06-12 |