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: 0.169)
|
Stock # |
R3945 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109048213-109107341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 109071475 bp (GRCm39)
|
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 |
4930407I10Rik |
T |
C |
15: 81,949,601 (GRCm39) |
L1166P |
probably damaging |
Het |
Actn4 |
T |
C |
7: 28,611,661 (GRCm39) |
|
probably null |
Het |
Adamts17 |
A |
T |
7: 66,770,687 (GRCm39) |
E905V |
probably benign |
Het |
Adck5 |
A |
G |
15: 76,479,400 (GRCm39) |
N485S |
probably damaging |
Het |
Agr3 |
C |
A |
12: 35,997,512 (GRCm39) |
|
probably benign |
Het |
Ankrd12 |
G |
A |
17: 66,283,098 (GRCm39) |
T1921I |
probably damaging |
Het |
Ascl2 |
T |
C |
7: 142,521,708 (GRCm39) |
S247G |
probably benign |
Het |
Atp7b |
T |
C |
8: 22,510,880 (GRCm39) |
E422G |
probably benign |
Het |
Bltp2 |
T |
C |
11: 78,180,790 (GRCm39) |
I2229T |
probably damaging |
Het |
C630050I24Rik |
C |
T |
8: 107,845,894 (GRCm39) |
R15* |
probably null |
Het |
Cabin1 |
T |
G |
10: 75,581,093 (GRCm39) |
Q411P |
probably damaging |
Het |
Chrne |
T |
C |
11: 70,507,869 (GRCm39) |
I277V |
possibly damaging |
Het |
Coch |
A |
G |
12: 51,648,595 (GRCm39) |
|
probably null |
Het |
Corin |
A |
G |
5: 72,515,767 (GRCm39) |
V429A |
probably damaging |
Het |
Cpa3 |
A |
T |
3: 20,279,281 (GRCm39) |
N219K |
probably damaging |
Het |
Creb3l1 |
T |
C |
2: 91,821,556 (GRCm39) |
E273G |
probably damaging |
Het |
Csmd1 |
A |
C |
8: 15,960,619 (GRCm39) |
|
probably null |
Het |
Ddx59 |
A |
G |
1: 136,362,356 (GRCm39) |
D527G |
probably damaging |
Het |
Defa25 |
G |
A |
8: 21,574,506 (GRCm39) |
V17I |
probably null |
Het |
Efs |
A |
G |
14: 55,158,108 (GRCm39) |
|
probably benign |
Het |
Ern2 |
A |
G |
7: 121,775,753 (GRCm39) |
M447T |
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,779,485 (GRCm39) |
E596K |
possibly damaging |
Het |
Filip1 |
T |
C |
9: 79,725,649 (GRCm39) |
K990R |
probably benign |
Het |
Ipo8 |
T |
A |
6: 148,719,615 (GRCm39) |
Q110L |
probably damaging |
Het |
Kank4 |
T |
A |
4: 98,659,517 (GRCm39) |
I854F |
probably damaging |
Het |
Mst1 |
G |
A |
9: 107,962,052 (GRCm39) |
C681Y |
probably damaging |
Het |
Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
Or1s2 |
A |
G |
19: 13,758,786 (GRCm39) |
E270G |
probably benign |
Het |
Or4f4b |
C |
T |
2: 111,314,032 (GRCm39) |
Q86* |
probably null |
Het |
Pde11a |
T |
C |
2: 75,906,275 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
G |
10: 107,522,253 (GRCm39) |
|
probably benign |
Het |
Rcbtb1 |
G |
A |
14: 59,462,225 (GRCm39) |
|
probably null |
Het |
Rpl37 |
G |
A |
15: 5,147,176 (GRCm39) |
R72H |
probably benign |
Het |
Samd9l |
A |
T |
6: 3,377,029 (GRCm39) |
S77R |
possibly damaging |
Het |
Sin3b |
A |
G |
8: 73,460,067 (GRCm39) |
D218G |
possibly damaging |
Het |
Slc22a23 |
A |
G |
13: 34,367,109 (GRCm39) |
I633T |
probably damaging |
Het |
Spen |
T |
C |
4: 141,204,664 (GRCm39) |
D1321G |
unknown |
Het |
Ssh2 |
T |
C |
11: 77,345,494 (GRCm39) |
S1160P |
possibly damaging |
Het |
Synrg |
T |
A |
11: 83,914,232 (GRCm39) |
D952E |
probably damaging |
Het |
Tigd3 |
A |
G |
19: 5,942,461 (GRCm39) |
F223S |
probably damaging |
Het |
Trmt13 |
A |
G |
3: 116,375,167 (GRCm39) |
F447S |
probably damaging |
Het |
Trpc2 |
T |
C |
7: 101,737,486 (GRCm39) |
I800T |
possibly damaging |
Het |
Ugt3a1 |
A |
T |
15: 9,370,184 (GRCm39) |
I443F |
possibly damaging |
Het |
Vamp2 |
C |
A |
11: 68,980,000 (GRCm39) |
P24Q |
unknown |
Het |
Vmn1r113 |
A |
G |
7: 20,521,637 (GRCm39) |
Y143C |
probably benign |
Het |
Vmn1r14 |
T |
A |
6: 57,211,254 (GRCm39) |
N277K |
probably benign |
Het |
Vmn1r181 |
T |
A |
7: 23,683,577 (GRCm39) |
V14E |
probably damaging |
Het |
Wdfy4 |
A |
T |
14: 32,688,352 (GRCm39) |
I3086N |
probably damaging |
Het |
Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
Het |
|
Other mutations in Trim66 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01539:Trim66
|
APN |
7 |
109,054,273 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01758:Trim66
|
APN |
7 |
109,085,252 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01982:Trim66
|
APN |
7 |
109,057,970 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01983:Trim66
|
APN |
7 |
109,057,458 (GRCm39) |
nonsense |
probably null |
|
IGL02149:Trim66
|
APN |
7 |
109,060,109 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02392:Trim66
|
APN |
7 |
109,059,481 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02483:Trim66
|
APN |
7 |
109,076,837 (GRCm39) |
splice site |
probably benign |
|
IGL02832:Trim66
|
APN |
7 |
109,059,704 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02945:Trim66
|
APN |
7 |
109,059,383 (GRCm39) |
nonsense |
probably null |
|
IGL03085:Trim66
|
APN |
7 |
109,057,952 (GRCm39) |
missense |
probably benign |
0.17 |
PIT1430001:Trim66
|
UTSW |
7 |
109,074,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R0326:Trim66
|
UTSW |
7 |
109,059,379 (GRCm39) |
missense |
probably benign |
0.00 |
R0358:Trim66
|
UTSW |
7 |
109,059,383 (GRCm39) |
nonsense |
probably null |
|
R0401:Trim66
|
UTSW |
7 |
109,074,471 (GRCm39) |
missense |
probably damaging |
0.98 |
R0470:Trim66
|
UTSW |
7 |
109,056,749 (GRCm39) |
splice site |
probably benign |
|
R0568:Trim66
|
UTSW |
7 |
109,059,902 (GRCm39) |
missense |
probably benign |
0.00 |
R0669:Trim66
|
UTSW |
7 |
109,054,199 (GRCm39) |
intron |
probably benign |
|
R0980:Trim66
|
UTSW |
7 |
109,054,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R1015:Trim66
|
UTSW |
7 |
109,054,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R1078:Trim66
|
UTSW |
7 |
109,071,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R1099:Trim66
|
UTSW |
7 |
109,074,661 (GRCm39) |
missense |
probably benign |
0.34 |
R1181:Trim66
|
UTSW |
7 |
109,083,784 (GRCm39) |
critical splice donor site |
probably null |
|
R1497:Trim66
|
UTSW |
7 |
109,083,826 (GRCm39) |
missense |
probably benign |
0.00 |
R1583:Trim66
|
UTSW |
7 |
109,054,287 (GRCm39) |
missense |
probably damaging |
1.00 |
R1843:Trim66
|
UTSW |
7 |
109,075,046 (GRCm39) |
missense |
probably damaging |
0.99 |
R1998:Trim66
|
UTSW |
7 |
109,083,784 (GRCm39) |
critical splice donor site |
probably null |
|
R2016:Trim66
|
UTSW |
7 |
109,071,439 (GRCm39) |
critical splice donor site |
probably null |
|
R2143:Trim66
|
UTSW |
7 |
109,074,320 (GRCm39) |
missense |
probably damaging |
0.98 |
R2144:Trim66
|
UTSW |
7 |
109,074,320 (GRCm39) |
missense |
probably damaging |
0.98 |
R2145:Trim66
|
UTSW |
7 |
109,074,320 (GRCm39) |
missense |
probably damaging |
0.98 |
R4012:Trim66
|
UTSW |
7 |
109,057,338 (GRCm39) |
missense |
probably damaging |
0.98 |
R4464:Trim66
|
UTSW |
7 |
109,076,897 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4473:Trim66
|
UTSW |
7 |
109,081,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R4729:Trim66
|
UTSW |
7 |
109,055,267 (GRCm39) |
critical splice donor site |
probably null |
|
R4730:Trim66
|
UTSW |
7 |
109,082,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R4775:Trim66
|
UTSW |
7 |
109,056,796 (GRCm39) |
nonsense |
probably null |
|
R4819:Trim66
|
UTSW |
7 |
109,056,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R5269:Trim66
|
UTSW |
7 |
109,056,797 (GRCm39) |
missense |
probably benign |
0.00 |
R5557:Trim66
|
UTSW |
7 |
109,082,944 (GRCm39) |
missense |
probably benign |
0.06 |
R5832:Trim66
|
UTSW |
7 |
109,054,409 (GRCm39) |
missense |
probably damaging |
1.00 |
R6220:Trim66
|
UTSW |
7 |
109,082,300 (GRCm39) |
missense |
probably damaging |
0.97 |
R6243:Trim66
|
UTSW |
7 |
109,059,481 (GRCm39) |
missense |
probably benign |
0.01 |
R6374:Trim66
|
UTSW |
7 |
109,085,269 (GRCm39) |
missense |
probably benign |
|
R6450:Trim66
|
UTSW |
7 |
109,059,945 (GRCm39) |
missense |
probably benign |
0.09 |
R6543:Trim66
|
UTSW |
7 |
109,075,086 (GRCm39) |
missense |
probably benign |
0.01 |
R6788:Trim66
|
UTSW |
7 |
109,076,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R6842:Trim66
|
UTSW |
7 |
109,059,983 (GRCm39) |
missense |
probably benign |
0.00 |
R7169:Trim66
|
UTSW |
7 |
109,054,328 (GRCm39) |
missense |
probably benign |
0.25 |
R7257:Trim66
|
UTSW |
7 |
109,059,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R7328:Trim66
|
UTSW |
7 |
109,056,958 (GRCm39) |
missense |
probably damaging |
0.99 |
R7616:Trim66
|
UTSW |
7 |
109,082,956 (GRCm39) |
missense |
probably damaging |
0.99 |
R8423:Trim66
|
UTSW |
7 |
109,074,599 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8855:Trim66
|
UTSW |
7 |
109,081,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R9130:Trim66
|
UTSW |
7 |
109,076,896 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9137:Trim66
|
UTSW |
7 |
109,074,330 (GRCm39) |
missense |
probably damaging |
0.99 |
R9640:Trim66
|
UTSW |
7 |
109,074,825 (GRCm39) |
missense |
probably damaging |
1.00 |
RF013:Trim66
|
UTSW |
7 |
109,059,960 (GRCm39) |
missense |
probably damaging |
0.99 |
RF024:Trim66
|
UTSW |
7 |
109,059,947 (GRCm39) |
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 |