Incidental Mutation 'R8423:Trim66'
ID |
653306 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim66
|
Ensembl Gene |
ENSMUSG00000031026 |
Gene Name |
tripartite motif-containing 66 |
Synonyms |
Tif1d, D7H11orf29 |
MMRRC Submission |
067899-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R8423 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109048213-109107341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109074599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 554
(Q554L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033339]
[ENSMUST00000106739]
[ENSMUST00000106741]
|
AlphaFold |
Q924W6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033339
AA Change: Q452L
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000033339 Gene: ENSMUSG00000031026 AA Change: Q452L
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: Q452L
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102350 Gene: ENSMUSG00000031026 AA Change: Q452L
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: Q554L
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000102352 Gene: ENSMUSG00000031026 AA Change: Q554L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
G |
12: 113,454,530 (GRCm39) |
D449G |
possibly damaging |
Het |
Ampd1 |
T |
C |
3: 102,988,305 (GRCm39) |
S83P |
probably benign |
Het |
Bub1 |
G |
A |
2: 127,649,750 (GRCm39) |
L703F |
probably benign |
Het |
C1rb |
T |
A |
6: 124,551,617 (GRCm39) |
D242E |
probably damaging |
Het |
Carf |
T |
A |
1: 60,189,752 (GRCm39) |
L659Q |
possibly damaging |
Het |
Carmil3 |
A |
G |
14: 55,736,522 (GRCm39) |
N662S |
probably damaging |
Het |
Ccno |
A |
G |
13: 113,124,678 (GRCm39) |
S83G |
possibly damaging |
Het |
Chd3 |
A |
T |
11: 69,245,252 (GRCm39) |
Y1155* |
probably null |
Het |
Clec16a |
A |
G |
16: 10,394,527 (GRCm39) |
E295G |
probably benign |
Het |
Clnk |
A |
G |
5: 38,952,253 (GRCm39) |
|
probably null |
Het |
Clvs2 |
T |
C |
10: 33,498,855 (GRCm39) |
D25G |
possibly damaging |
Het |
Cnr2 |
C |
T |
4: 135,644,827 (GRCm39) |
R302W |
probably damaging |
Het |
Col20a1 |
A |
G |
2: 180,640,498 (GRCm39) |
T594A |
probably damaging |
Het |
Dclk3 |
C |
T |
9: 111,297,787 (GRCm39) |
R444W |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 49,998,183 (GRCm39) |
V761A |
probably damaging |
Het |
Dnah7a |
C |
A |
1: 53,512,063 (GRCm39) |
K2999N |
possibly damaging |
Het |
Dusp28 |
T |
C |
1: 92,834,906 (GRCm39) |
S44P |
probably damaging |
Het |
Enpep |
T |
G |
3: 129,102,774 (GRCm39) |
N394T |
probably damaging |
Het |
Fam135a |
A |
T |
1: 24,060,998 (GRCm39) |
F1343I |
probably damaging |
Het |
Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
Fbxo40 |
A |
T |
16: 36,790,947 (GRCm39) |
H54Q |
probably damaging |
Het |
Galnt9 |
A |
G |
5: 110,744,111 (GRCm39) |
D315G |
probably benign |
Het |
Gbp4 |
T |
A |
5: 105,267,800 (GRCm39) |
D482V |
probably damaging |
Het |
Gm17175 |
T |
A |
14: 51,809,070 (GRCm39) |
I99F |
possibly damaging |
Het |
Heatr4 |
A |
G |
12: 84,027,104 (GRCm39) |
F51S |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,415,442 (GRCm39) |
S4806P |
probably damaging |
Het |
Hoxc11 |
G |
A |
15: 102,863,177 (GRCm39) |
V73I |
possibly damaging |
Het |
Knl1 |
T |
G |
2: 118,900,513 (GRCm39) |
I738S |
probably damaging |
Het |
Lcor |
T |
C |
19: 41,573,888 (GRCm39) |
I881T |
possibly damaging |
Het |
Lipt2 |
T |
C |
7: 99,809,450 (GRCm39) |
F179S |
probably damaging |
Het |
Lrrc8b |
G |
A |
5: 105,628,622 (GRCm39) |
V323M |
probably damaging |
Het |
Ltbp1 |
T |
C |
17: 75,599,852 (GRCm39) |
S665P |
probably benign |
Het |
Miga1 |
A |
T |
3: 152,028,045 (GRCm39) |
D161E |
probably benign |
Het |
Mynn |
A |
G |
3: 30,657,933 (GRCm39) |
T84A |
probably benign |
Het |
Or13c7d |
T |
C |
4: 43,770,598 (GRCm39) |
S138G |
possibly damaging |
Het |
Or3a1b |
T |
C |
11: 74,012,492 (GRCm39) |
F126L |
probably benign |
Het |
Or4a75 |
A |
T |
2: 89,448,331 (GRCm39) |
D68E |
probably damaging |
Het |
Pik3r3 |
C |
T |
4: 116,079,572 (GRCm39) |
S23L |
probably benign |
Het |
Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Ralgapa1 |
A |
G |
12: 55,705,847 (GRCm39) |
S1892P |
probably damaging |
Het |
Slc6a18 |
T |
A |
13: 73,813,693 (GRCm39) |
Q540L |
probably benign |
Het |
Tfap2a |
A |
T |
13: 40,872,706 (GRCm39) |
N323K |
possibly damaging |
Het |
Tgm1 |
A |
T |
14: 55,943,100 (GRCm39) |
M580K |
probably benign |
Het |
Tnrc6b |
G |
A |
15: 80,813,619 (GRCm39) |
G1792D |
unknown |
Het |
Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
Vmn1r238 |
G |
T |
18: 3,123,365 (GRCm39) |
C16* |
probably null |
Het |
Vmn1r6 |
G |
A |
6: 56,979,495 (GRCm39) |
M52I |
probably benign |
Het |
Zfp61 |
A |
G |
7: 23,991,459 (GRCm39) |
F231L |
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 |
R3945:Trim66
|
UTSW |
7 |
109,071,475 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
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'- TGACTCAACTGCAGGCTAGG -3'
(R):5'- GAACAGGAGAGTACATCCCAGC -3'
Sequencing Primer
(F):5'- GAGAAGCTCCAAGTCCTTCTG -3'
(R):5'- AGTACATCCCAGCGGCCAG -3'
|
Posted On |
2020-10-20 |