Incidental Mutation 'R3945:Trim66'
| ID |
307648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim66
|
| Ensembl Gene |
ENSMUSG00000031026 |
| Gene Name |
tripartite motif-containing 66 |
| Synonyms |
Tif1d, D7H11orf29 |
| MMRRC Submission |
040926-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R3945 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109449006-109508134 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 109472268 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 608
(T608I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033339]
[ENSMUST00000106739]
[ENSMUST00000106741]
|
| AlphaFold |
Q924W6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033339
AA Change: T608I
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: T608I
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
4 |
69 |
7.77e0 |
SMART |
|
BBC
|
108 |
234 |
1.61e-39 |
SMART |
|
low complexity region
|
318 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
581 |
N/A |
INTRINSIC |
|
PHD
|
998 |
1041 |
4.09e-10 |
SMART |
|
BROMO
|
1069 |
1175 |
8.22e-27 |
SMART |
|
low complexity region
|
1185 |
1199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106739
AA Change: T608I
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: T608I
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
4 |
69 |
7.77e0 |
SMART |
|
BBC
|
108 |
234 |
1.61e-39 |
SMART |
|
low complexity region
|
318 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
486 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
530 |
N/A |
INTRINSIC |
|
low complexity region
|
568 |
581 |
N/A |
INTRINSIC |
|
PHD
|
998 |
1041 |
4.09e-10 |
SMART |
|
BROMO
|
1069 |
1175 |
8.22e-27 |
SMART |
|
low complexity region
|
1185 |
1199 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106741
AA Change: T710I
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: T710I
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
28 |
78 |
2.38e-2 |
SMART |
|
BBOX
|
102 |
140 |
1.48e0 |
SMART |
|
PHD
|
106 |
171 |
7.77e0 |
SMART |
|
RING
|
107 |
170 |
4.38e0 |
SMART |
|
BBOX
|
162 |
203 |
4.21e-3 |
SMART |
|
BBC
|
210 |
336 |
1.61e-39 |
SMART |
|
low complexity region
|
420 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
632 |
N/A |
INTRINSIC |
|
low complexity region
|
670 |
683 |
N/A |
INTRINSIC |
|
PHD
|
1100 |
1143 |
4.09e-10 |
SMART |
|
BROMO
|
1171 |
1277 |
8.22e-27 |
SMART |
|
low complexity region
|
1287 |
1301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137704
|
| Meta Mutation Damage Score |
0.0724 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610507B11Rik |
T |
C |
11: 78,289,964 (GRCm38) |
I2229T |
probably damaging |
Het |
| 4930407I10Rik |
T |
C |
15: 82,065,400 (GRCm38) |
L1166P |
probably damaging |
Het |
| Actn4 |
T |
C |
7: 28,912,236 (GRCm38) |
|
probably null |
Het |
| Adamts17 |
A |
T |
7: 67,120,939 (GRCm38) |
E905V |
probably benign |
Het |
| Adck5 |
A |
G |
15: 76,595,200 (GRCm38) |
N485S |
probably damaging |
Het |
| Agr3 |
C |
A |
12: 35,947,513 (GRCm38) |
|
probably benign |
Het |
| Ankrd12 |
G |
A |
17: 65,976,103 (GRCm38) |
T1921I |
probably damaging |
Het |
| Ascl2 |
T |
C |
7: 142,967,971 (GRCm38) |
S247G |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,020,864 (GRCm38) |
E422G |
probably benign |
Het |
| C630050I24Rik |
C |
T |
8: 107,119,262 (GRCm38) |
R15* |
probably null |
Het |
| Cabin1 |
T |
G |
10: 75,745,259 (GRCm38) |
Q411P |
probably damaging |
Het |
| Chrne |
T |
C |
11: 70,617,043 (GRCm38) |
I277V |
possibly damaging |
Het |
| Coch |
A |
G |
12: 51,601,812 (GRCm38) |
|
probably null |
Het |
| Corin |
A |
G |
5: 72,358,424 (GRCm38) |
V429A |
probably damaging |
Het |
| Cpa3 |
A |
T |
3: 20,225,117 (GRCm38) |
N219K |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,991,211 (GRCm38) |
E273G |
probably damaging |
Het |
| Csmd1 |
A |
C |
8: 15,910,619 (GRCm38) |
|
probably null |
Het |
| Ddx59 |
A |
G |
1: 136,434,618 (GRCm38) |
D527G |
probably damaging |
Het |
| Defa25 |
G |
A |
8: 21,084,490 (GRCm38) |
V17I |
probably null |
Het |
| Efs |
A |
G |
14: 54,920,651 (GRCm38) |
|
probably benign |
Het |
| Ern2 |
A |
G |
7: 122,176,530 (GRCm38) |
M447T |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 130,177,755 (GRCm38) |
E596K |
possibly damaging |
Het |
| Filip1 |
T |
C |
9: 79,818,367 (GRCm38) |
K990R |
probably benign |
Het |
| Ipo8 |
T |
A |
6: 148,818,117 (GRCm38) |
Q110L |
probably damaging |
Het |
| Kank4 |
T |
A |
4: 98,771,280 (GRCm38) |
I854F |
probably damaging |
Het |
| Mst1 |
G |
A |
9: 108,084,853 (GRCm38) |
C681Y |
probably damaging |
Het |
| Nr2c2 |
C |
T |
6: 92,163,138 (GRCm38) |
R464W |
probably damaging |
Het |
| Olfr1289 |
C |
T |
2: 111,483,687 (GRCm38) |
Q86* |
probably null |
Het |
| Olfr1496 |
A |
G |
19: 13,781,422 (GRCm38) |
E270G |
probably benign |
Het |
| Pde11a |
T |
C |
2: 76,075,931 (GRCm38) |
|
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,686,392 (GRCm38) |
|
probably benign |
Het |
| Rcbtb1 |
G |
A |
14: 59,224,776 (GRCm38) |
|
probably null |
Het |
| Rpl37 |
G |
A |
15: 5,117,694 (GRCm38) |
R72H |
probably benign |
Het |
| Samd9l |
A |
T |
6: 3,377,029 (GRCm38) |
S77R |
possibly damaging |
Het |
| Sin3b |
A |
G |
8: 72,733,439 (GRCm38) |
D218G |
possibly damaging |
Het |
| Slc22a23 |
A |
G |
13: 34,183,126 (GRCm38) |
I633T |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,477,353 (GRCm38) |
D1321G |
unknown |
Het |
| Ssh2 |
T |
C |
11: 77,454,668 (GRCm38) |
S1160P |
possibly damaging |
Het |
| Synrg |
T |
A |
11: 84,023,406 (GRCm38) |
D952E |
probably damaging |
Het |
| Tigd3 |
A |
G |
19: 5,892,433 (GRCm38) |
F223S |
probably damaging |
Het |
| Trmt13 |
A |
G |
3: 116,581,518 (GRCm38) |
F447S |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 102,088,279 (GRCm38) |
I800T |
possibly damaging |
Het |
| Ugt3a2 |
A |
T |
15: 9,370,098 (GRCm38) |
I443F |
possibly damaging |
Het |
| Vamp2 |
C |
A |
11: 69,089,174 (GRCm38) |
P24Q |
unknown |
Het |
| Vmn1r113 |
A |
G |
7: 20,787,712 (GRCm38) |
Y143C |
probably benign |
Het |
| Vmn1r14 |
T |
A |
6: 57,234,269 (GRCm38) |
N277K |
probably benign |
Het |
| Vmn1r181 |
T |
A |
7: 23,984,152 (GRCm38) |
V14E |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,966,395 (GRCm38) |
I3086N |
probably damaging |
Het |
| Zfp988 |
A |
C |
4: 147,332,785 (GRCm38) |
K559Q |
probably benign |
Het |
|
| Other mutations in Trim66 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01539:Trim66
|
APN |
7 |
109,455,066 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01758:Trim66
|
APN |
7 |
109,486,045 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01982:Trim66
|
APN |
7 |
109,458,763 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01983:Trim66
|
APN |
7 |
109,458,251 (GRCm38) |
nonsense |
probably null |
|
|
IGL02149:Trim66
|
APN |
7 |
109,460,902 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02392:Trim66
|
APN |
7 |
109,460,274 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02483:Trim66
|
APN |
7 |
109,477,630 (GRCm38) |
splice site |
probably benign |
|
|
IGL02832:Trim66
|
APN |
7 |
109,460,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02945:Trim66
|
APN |
7 |
109,460,176 (GRCm38) |
nonsense |
probably null |
|
|
IGL03085:Trim66
|
APN |
7 |
109,458,745 (GRCm38) |
missense |
probably benign |
0.17 |
|
PIT1430001:Trim66
|
UTSW |
7 |
109,475,247 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0326:Trim66
|
UTSW |
7 |
109,460,172 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0358:Trim66
|
UTSW |
7 |
109,460,176 (GRCm38) |
nonsense |
probably null |
|
|
R0401:Trim66
|
UTSW |
7 |
109,475,264 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0470:Trim66
|
UTSW |
7 |
109,457,542 (GRCm38) |
splice site |
probably benign |
|
|
R0568:Trim66
|
UTSW |
7 |
109,460,695 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0669:Trim66
|
UTSW |
7 |
109,454,992 (GRCm38) |
intron |
probably benign |
|
|
R0980:Trim66
|
UTSW |
7 |
109,455,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1015:Trim66
|
UTSW |
7 |
109,455,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1078:Trim66
|
UTSW |
7 |
109,472,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1099:Trim66
|
UTSW |
7 |
109,475,454 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1181:Trim66
|
UTSW |
7 |
109,484,577 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1497:Trim66
|
UTSW |
7 |
109,484,619 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1583:Trim66
|
UTSW |
7 |
109,455,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1843:Trim66
|
UTSW |
7 |
109,475,839 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1998:Trim66
|
UTSW |
7 |
109,484,577 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2016:Trim66
|
UTSW |
7 |
109,472,232 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2143:Trim66
|
UTSW |
7 |
109,475,113 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2144:Trim66
|
UTSW |
7 |
109,475,113 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2145:Trim66
|
UTSW |
7 |
109,475,113 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4012:Trim66
|
UTSW |
7 |
109,458,131 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4464:Trim66
|
UTSW |
7 |
109,477,690 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4473:Trim66
|
UTSW |
7 |
109,481,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4729:Trim66
|
UTSW |
7 |
109,456,060 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4730:Trim66
|
UTSW |
7 |
109,483,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4775:Trim66
|
UTSW |
7 |
109,457,589 (GRCm38) |
nonsense |
probably null |
|
|
R4819:Trim66
|
UTSW |
7 |
109,457,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5269:Trim66
|
UTSW |
7 |
109,457,590 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5557:Trim66
|
UTSW |
7 |
109,483,737 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5832:Trim66
|
UTSW |
7 |
109,455,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6220:Trim66
|
UTSW |
7 |
109,483,093 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6243:Trim66
|
UTSW |
7 |
109,460,274 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6374:Trim66
|
UTSW |
7 |
109,486,062 (GRCm38) |
missense |
probably benign |
|
|
R6450:Trim66
|
UTSW |
7 |
109,460,738 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6543:Trim66
|
UTSW |
7 |
109,475,879 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6788:Trim66
|
UTSW |
7 |
109,477,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6842:Trim66
|
UTSW |
7 |
109,460,776 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7169:Trim66
|
UTSW |
7 |
109,455,121 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7257:Trim66
|
UTSW |
7 |
109,460,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7328:Trim66
|
UTSW |
7 |
109,457,751 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7616:Trim66
|
UTSW |
7 |
109,483,749 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8423:Trim66
|
UTSW |
7 |
109,475,392 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8855:Trim66
|
UTSW |
7 |
109,481,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9130:Trim66
|
UTSW |
7 |
109,477,689 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9137:Trim66
|
UTSW |
7 |
109,475,123 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9640:Trim66
|
UTSW |
7 |
109,475,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF013:Trim66
|
UTSW |
7 |
109,460,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF024:Trim66
|
UTSW |
7 |
109,460,740 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCTAAATGAAGCCCAGTGAG -3'
(R):5'- TGGTATGCTCTCTGGGGAAAC -3'
Sequencing Primer
(F):5'- TGAAGCCCAGTGAGCCCATATG -3'
(R):5'- AAGCCAGCTCTACCTGTT -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation