Incidental Mutation 'R7479:Tnrc6b'
| ID |
579696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnrc6b
|
| Ensembl Gene |
ENSMUSG00000047888 |
| Gene Name |
trinucleotide repeat containing 6b |
| Synonyms |
2700090M07Rik, A730065C02Rik, D230019K20Rik |
| MMRRC Submission |
045553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R7479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
80595514-80825286 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80773327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1158
(T1158A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067689]
[ENSMUST00000227449]
|
| AlphaFold |
Q8BKI2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067689
AA Change: T1158A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000064336
Gene: ENSMUSG00000047888
AA Change: T1158A
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,372,142 (GRCm39) |
M81L |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,682,348 (GRCm39) |
T667A |
probably damaging |
Het |
| Anpep |
T |
A |
7: 79,485,118 (GRCm39) |
I623F |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,389,607 (GRCm39) |
I501T |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,525,895 (GRCm39) |
Y536N |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,823,587 (GRCm39) |
Y168C |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C2 |
A |
G |
17: 35,082,441 (GRCm39) |
C647R |
probably damaging |
Het |
| Cnot4 |
G |
A |
6: 35,001,083 (GRCm39) |
T604I |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,896,218 (GRCm39) |
T506I |
unknown |
Het |
| Cr2 |
A |
C |
1: 194,840,718 (GRCm39) |
|
probably null |
Het |
| Ctsm |
A |
T |
13: 61,685,569 (GRCm39) |
V281D |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,870,001 (GRCm39) |
I74V |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,717,590 (GRCm39) |
V529D |
probably damaging |
Het |
| Dlgap3 |
C |
A |
4: 127,088,418 (GRCm39) |
H5N |
possibly damaging |
Het |
| Dusp10 |
C |
A |
1: 183,769,617 (GRCm39) |
H194Q |
probably damaging |
Het |
| Eln |
C |
G |
5: 134,736,429 (GRCm39) |
G753A |
unknown |
Het |
| Emb |
T |
A |
13: 117,385,962 (GRCm39) |
N118K |
possibly damaging |
Het |
| Fam184a |
C |
T |
10: 53,531,110 (GRCm39) |
V755I |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,254,904 (GRCm39) |
I846T |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,681,166 (GRCm39) |
I722F |
probably damaging |
Het |
| Gabrb3 |
T |
A |
7: 57,474,171 (GRCm39) |
D362E |
possibly damaging |
Het |
| Galnt2 |
G |
A |
8: 125,061,077 (GRCm39) |
G357D |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,858,373 (GRCm39) |
S35R |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,924,367 (GRCm39) |
I207T |
possibly damaging |
Het |
| Gm10192 |
A |
T |
4: 97,071,272 (GRCm39) |
N44K |
unknown |
Het |
| Gpd1 |
A |
G |
15: 99,617,984 (GRCm39) |
D123G |
probably benign |
Het |
| Grm2 |
A |
T |
9: 106,531,050 (GRCm39) |
D146E |
possibly damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,676,032 (GRCm39) |
D132G |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,425 (GRCm39) |
G236R |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,714 (GRCm39) |
A1934V |
probably benign |
Het |
| Il7r |
C |
T |
15: 9,513,117 (GRCm39) |
A131T |
probably damaging |
Het |
| Itga6 |
C |
T |
2: 71,668,680 (GRCm39) |
R540* |
probably null |
Het |
| Kcnh2 |
A |
G |
5: 24,530,490 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
C |
T |
4: 120,573,022 (GRCm39) |
A260T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,691,517 (GRCm39) |
N3434S |
|
Het |
| Lrrc41 |
C |
T |
4: 115,946,238 (GRCm39) |
P318S |
probably damaging |
Het |
| Map4 |
G |
A |
9: 109,897,892 (GRCm39) |
G873R |
possibly damaging |
Het |
| Med24 |
A |
G |
11: 98,595,787 (GRCm39) |
I968T |
possibly damaging |
Het |
| Mfap5 |
T |
C |
6: 122,503,821 (GRCm39) |
|
probably null |
Het |
| Mtcl1 |
A |
G |
17: 66,686,485 (GRCm39) |
V807A |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,855,467 (GRCm39) |
S934T |
possibly damaging |
Het |
| Nckap5l |
C |
A |
15: 99,321,127 (GRCm39) |
V1218F |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
| Nkx2-4 |
T |
C |
2: 146,926,088 (GRCm39) |
E258G |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,913,281 (GRCm39) |
V545E |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,882,858 (GRCm39) |
D162G |
possibly damaging |
Het |
| Rhot2 |
A |
G |
17: 26,059,723 (GRCm39) |
L367P |
probably damaging |
Het |
| Ripk2 |
A |
G |
4: 16,155,154 (GRCm39) |
F122L |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,588,941 (GRCm39) |
T1322A |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,853,358 (GRCm39) |
L115Q |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,274,462 (GRCm39) |
P1006Q |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,304,804 (GRCm39) |
N207I |
probably damaging |
Het |
| Sez6l2 |
C |
T |
7: 126,562,831 (GRCm39) |
T669I |
probably damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,847,112 (GRCm39) |
D57V |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,617,887 (GRCm39) |
V306D |
probably benign |
Het |
| Srgap3 |
C |
T |
6: 112,712,794 (GRCm39) |
|
probably null |
Het |
| Tas2r134 |
T |
C |
2: 51,517,541 (GRCm39) |
F7L |
not run |
Het |
| Tbcd |
T |
C |
11: 121,383,431 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,703 (GRCm39) |
A413V |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,857,654 (GRCm39) |
V71A |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,950,928 (GRCm39) |
T1649A |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,935,865 (GRCm39) |
E357G |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,568,952 (GRCm39) |
E27314* |
probably null |
Het |
| Vps35 |
G |
T |
8: 85,997,434 (GRCm39) |
T512K |
probably benign |
Het |
| Zfp40 |
A |
T |
17: 23,396,292 (GRCm39) |
S98R |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp945 |
A |
T |
17: 23,070,340 (GRCm39) |
C541S |
possibly damaging |
Het |
| Zfp976 |
T |
A |
7: 42,262,603 (GRCm39) |
E412D |
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 |
|
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 |
|
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 |
|
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'- AGAGTAGAGAGGCTTTGTCCCC -3'
(R):5'- ATCACCTGTTGACGTCAGTTAC -3'
Sequencing Primer
(F):5'- TCCCTAGAGAACAGACGGGC -3'
(R):5'- CTTTCCTGTCACCACATTAATATAGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation