Incidental Mutation 'R7159:Tnrc6b'
| ID |
557531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc6b
|
| Ensembl Gene |
ENSMUSG00000047888 |
| Gene Name |
trinucleotide repeat containing 6b |
| Synonyms |
2700090M07Rik, A730065C02Rik, D230019K20Rik |
| MMRRC Submission |
045259-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R7159 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
80595514-80825286 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80771223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1103
(M1103V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067689]
[ENSMUST00000227449]
|
| AlphaFold |
Q8BKI2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067689
AA Change: M1103V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: M1103V
| 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 benign
Transcript: ENSMUST00000227449
|
| Predicted Effect |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (70/71) |
| 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 |
|---|
| Akap13 |
T |
A |
7: 75,380,327 (GRCm39) |
V500E |
possibly damaging |
Het |
| Ankrd34b |
T |
C |
13: 92,575,970 (GRCm39) |
S401P |
probably benign |
Het |
| Arfgef2 |
T |
A |
2: 166,668,848 (GRCm39) |
D41E |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,480,879 (GRCm39) |
N15S |
unknown |
Het |
| Arsa |
A |
T |
15: 89,358,921 (GRCm39) |
|
probably null |
Het |
| B3gnt9 |
C |
A |
8: 105,981,064 (GRCm39) |
C108F |
probably damaging |
Het |
| Bbc3 |
C |
A |
7: 16,047,733 (GRCm39) |
Y152* |
probably null |
Het |
| Btbd1 |
T |
C |
7: 81,467,957 (GRCm39) |
M188V |
probably benign |
Het |
| Caln1 |
C |
T |
5: 130,851,838 (GRCm39) |
T209I |
probably benign |
Het |
| Casp12 |
C |
T |
9: 5,353,763 (GRCm39) |
P266S |
possibly damaging |
Het |
| Ccm2l |
A |
T |
2: 152,912,787 (GRCm39) |
I109F |
probably damaging |
Het |
| Chst15 |
A |
C |
7: 131,871,987 (GRCm39) |
L98R |
probably damaging |
Het |
| Ctsq |
A |
G |
13: 61,186,737 (GRCm39) |
M89T |
probably benign |
Het |
| Ddx39b |
T |
C |
17: 35,465,986 (GRCm39) |
V169A |
probably benign |
Het |
| Fhad1 |
T |
C |
4: 141,678,927 (GRCm39) |
H583R |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 8,019,763 (GRCm39) |
I139F |
probably damaging |
Het |
| Gm7145 |
C |
G |
1: 117,913,561 (GRCm39) |
H148D |
probably benign |
Het |
| Gpr62 |
C |
A |
9: 106,342,641 (GRCm39) |
A96S |
probably damaging |
Het |
| Gsap |
T |
A |
5: 21,475,618 (GRCm39) |
|
probably null |
Het |
| Hdhd5 |
T |
A |
6: 120,500,432 (GRCm39) |
T89S |
probably damaging |
Het |
| Kcna5 |
T |
A |
6: 126,510,592 (GRCm39) |
Y512F |
probably damaging |
Het |
| Krt84 |
C |
A |
15: 101,438,044 (GRCm39) |
E304* |
probably null |
Het |
| Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
| Lrp6 |
C |
A |
6: 134,484,514 (GRCm39) |
V370L |
probably benign |
Het |
| Lrrc3c |
G |
A |
11: 98,490,144 (GRCm39) |
G167D |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,813,909 (GRCm39) |
T291M |
probably benign |
Het |
| Mapkbp1 |
A |
G |
2: 119,855,613 (GRCm39) |
E1438G |
possibly damaging |
Het |
| Med12l |
A |
G |
3: 59,183,438 (GRCm39) |
T1947A |
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,881,937 (GRCm39) |
T60S |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,078,845 (GRCm39) |
I868F |
probably benign |
Het |
| Myom3 |
A |
T |
4: 135,536,162 (GRCm39) |
I1278F |
probably damaging |
Het |
| Nbn |
G |
T |
4: 15,983,677 (GRCm39) |
|
probably null |
Het |
| Ncam2 |
G |
T |
16: 81,287,262 (GRCm39) |
S392I |
probably damaging |
Het |
| Nrg3 |
A |
C |
14: 38,092,692 (GRCm39) |
L647* |
probably null |
Het |
| Or10j7 |
A |
T |
1: 173,011,890 (GRCm39) |
L37Q |
possibly damaging |
Het |
| Or2t35 |
T |
C |
14: 14,407,251 (GRCm38) |
S8P |
possibly damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,185 (GRCm39) |
D70V |
probably damaging |
Het |
| Or8j3c |
T |
A |
2: 86,253,956 (GRCm39) |
|
probably null |
Het |
| Pcdhb9 |
A |
G |
18: 37,534,545 (GRCm39) |
N180D |
possibly damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,819,972 (GRCm39) |
N507S |
probably damaging |
Het |
| Pdilt |
A |
G |
7: 119,087,174 (GRCm39) |
V492A |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,914,366 (GRCm39) |
T603A |
possibly damaging |
Het |
| Phox2b |
T |
A |
5: 67,254,928 (GRCm39) |
I174F |
probably benign |
Het |
| Polq |
A |
T |
16: 36,883,215 (GRCm39) |
Q1793L |
possibly damaging |
Het |
| Prmt9 |
T |
C |
8: 78,282,393 (GRCm39) |
F97L |
probably benign |
Het |
| Prpsap1 |
T |
C |
11: 116,384,870 (GRCm39) |
E13G |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,546,851 (GRCm39) |
L280P |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,244,180 (GRCm39) |
M587K |
probably benign |
Het |
| Rc3h2 |
T |
C |
2: 37,299,659 (GRCm39) |
S124G |
probably benign |
Het |
| Rdh5 |
A |
G |
10: 128,754,184 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rigi |
A |
G |
4: 40,213,804 (GRCm39) |
V618A |
probably benign |
Het |
| Ryr2 |
T |
G |
13: 11,825,794 (GRCm39) |
R561S |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,158,229 (GRCm39) |
L593P |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,692,004 (GRCm39) |
I93V |
probably benign |
Het |
| Sema4f |
C |
A |
6: 82,894,864 (GRCm39) |
V444L |
possibly damaging |
Het |
| Slco1a7 |
T |
A |
6: 141,719,504 (GRCm39) |
M1L |
probably damaging |
Het |
| Spata33 |
T |
C |
8: 123,941,134 (GRCm39) |
L61P |
unknown |
Het |
| Stard10 |
A |
T |
7: 100,992,343 (GRCm39) |
|
probably null |
Het |
| Stub1 |
T |
C |
17: 26,051,038 (GRCm39) |
I115V |
probably benign |
Het |
| Tlcd3b |
T |
C |
7: 126,426,667 (GRCm39) |
F80S |
probably damaging |
Het |
| Tmem247 |
C |
T |
17: 87,225,710 (GRCm39) |
T50I |
probably benign |
Het |
| Trim61 |
T |
C |
8: 65,466,526 (GRCm39) |
Y245C |
probably benign |
Het |
| Trip13 |
T |
C |
13: 74,068,130 (GRCm39) |
I284V |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,976,692 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
A |
2: 76,740,092 (GRCm39) |
L3528F |
unknown |
Het |
| Ttn |
A |
G |
2: 76,560,918 (GRCm39) |
L29161S |
probably damaging |
Het |
| Ube2v2 |
G |
A |
16: 15,398,948 (GRCm39) |
T47I |
probably benign |
Het |
| Vwa5b1 |
C |
T |
4: 138,302,733 (GRCm39) |
A921T |
possibly damaging |
Het |
| Xylt1 |
T |
A |
7: 117,236,829 (GRCm39) |
F526Y |
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 |
|
|
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 |
|
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 |
|
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'- TAAAGCTATCAGGTTCAGGAAGGTG -3'
(R):5'- GTTGTTTCCACCTTTCCAAGAG -3'
Sequencing Primer
(F):5'- GAACTCTCAGCTTTGCATTTTCAGTG -3'
(R):5'- GTTTCCACCTTTCCAAGAGAAAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation