Incidental Mutation 'R6220:Trim66'
ID |
503949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim66
|
Ensembl Gene |
ENSMUSG00000031026 |
Gene Name |
tripartite motif-containing 66 |
Synonyms |
Tif1d, D7H11orf29 |
MMRRC Submission |
044352-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R6220 (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 C
at 109082300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 218
(T218A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033339]
[ENSMUST00000106739]
[ENSMUST00000106741]
|
AlphaFold |
Q924W6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033339
AA Change: T116A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000033339 Gene: ENSMUSG00000031026 AA Change: T116A
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 |
probably damaging
Transcript: ENSMUST00000106739
AA Change: T116A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102350 Gene: ENSMUSG00000031026 AA Change: T116A
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 |
probably damaging
Transcript: ENSMUST00000106741
AA Change: T218A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102352 Gene: ENSMUSG00000031026 AA Change: T218A
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 |
|
Meta Mutation Damage Score |
0.0732 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
A |
G |
2: 181,135,578 (GRCm39) |
D160G |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,780,505 (GRCm39) |
F15S |
probably damaging |
Het |
Adam30 |
A |
T |
3: 98,068,625 (GRCm39) |
S153C |
probably damaging |
Het |
Afp |
A |
T |
5: 90,652,269 (GRCm39) |
D420V |
possibly damaging |
Het |
Ak9 |
T |
A |
10: 41,246,095 (GRCm39) |
H729Q |
unknown |
Het |
Armh3 |
T |
C |
19: 45,834,554 (GRCm39) |
E618G |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Bcr |
A |
G |
10: 74,898,124 (GRCm39) |
T423A |
probably benign |
Het |
Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
Ctns |
T |
C |
11: 73,083,954 (GRCm39) |
T23A |
probably benign |
Het |
Ddx54 |
T |
A |
5: 120,758,754 (GRCm39) |
N332K |
probably benign |
Het |
Dysf |
T |
A |
6: 84,126,727 (GRCm39) |
I1344N |
probably damaging |
Het |
Elovl3 |
A |
T |
19: 46,122,939 (GRCm39) |
M172L |
probably benign |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Filip1l |
T |
A |
16: 57,390,352 (GRCm39) |
N313K |
probably benign |
Het |
Foxp2 |
C |
A |
6: 15,437,947 (GRCm39) |
T716K |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm10645 |
A |
G |
8: 83,892,386 (GRCm39) |
|
probably benign |
Het |
Gm10735 |
T |
C |
13: 113,178,030 (GRCm39) |
|
probably benign |
Het |
Gm4847 |
A |
T |
1: 166,462,541 (GRCm39) |
D316E |
probably damaging |
Het |
Gorasp2 |
T |
C |
2: 70,521,134 (GRCm39) |
L388P |
probably damaging |
Het |
Heatr5b |
A |
G |
17: 79,081,106 (GRCm39) |
L1382P |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,341,070 (GRCm39) |
Y1729C |
probably damaging |
Het |
Ifi207 |
A |
T |
1: 173,557,112 (GRCm39) |
L542H |
probably damaging |
Het |
Ighv3-5 |
T |
A |
12: 114,226,338 (GRCm39) |
N96I |
probably damaging |
Het |
Isl1 |
T |
C |
13: 116,439,803 (GRCm39) |
T182A |
probably benign |
Het |
Jph4 |
T |
C |
14: 55,347,542 (GRCm39) |
E421G |
probably benign |
Het |
Lrrc45 |
T |
C |
11: 120,610,353 (GRCm39) |
I488T |
probably benign |
Het |
Mroh8 |
A |
G |
2: 157,075,083 (GRCm39) |
I471T |
probably benign |
Het |
Ms4a2 |
A |
T |
19: 11,594,927 (GRCm39) |
D96E |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,784,547 (GRCm39) |
N68K |
probably benign |
Het |
Myo18b |
A |
G |
5: 112,905,373 (GRCm39) |
M2075T |
possibly damaging |
Het |
Neb |
T |
C |
2: 52,160,984 (GRCm39) |
K2229R |
probably null |
Het |
Nkx6-3 |
T |
A |
8: 23,643,987 (GRCm39) |
|
probably null |
Het |
Nlrp1a |
C |
A |
11: 71,033,164 (GRCm39) |
S10I |
probably benign |
Het |
Npas2 |
A |
T |
1: 39,375,142 (GRCm39) |
T487S |
probably benign |
Het |
Nrxn1 |
G |
C |
17: 91,395,904 (GRCm39) |
T84R |
probably benign |
Het |
Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdh18 |
A |
G |
3: 49,699,700 (GRCm39) |
C921R |
probably damaging |
Het |
Pcdha9 |
A |
G |
18: 37,131,531 (GRCm39) |
Y200C |
probably damaging |
Het |
Pknox1 |
A |
T |
17: 31,822,177 (GRCm39) |
R315* |
probably null |
Het |
Rasgrp1 |
C |
T |
2: 117,115,410 (GRCm39) |
W726* |
probably null |
Het |
Rassf8 |
G |
A |
6: 145,762,859 (GRCm39) |
R402H |
probably damaging |
Het |
Rev3l |
T |
A |
10: 39,698,775 (GRCm39) |
Y1091N |
probably damaging |
Het |
Riok3 |
T |
G |
18: 12,282,608 (GRCm39) |
V349G |
probably damaging |
Het |
Rps18 |
A |
T |
17: 34,174,110 (GRCm39) |
V15E |
probably damaging |
Het |
Rptor |
A |
T |
11: 119,788,268 (GRCm39) |
Y1323F |
possibly damaging |
Het |
Rspry1 |
T |
C |
8: 95,385,378 (GRCm39) |
C437R |
probably damaging |
Het |
Sema5a |
T |
A |
15: 32,686,875 (GRCm39) |
Y996N |
probably damaging |
Het |
Smarcad1 |
A |
G |
6: 65,091,313 (GRCm39) |
I1011M |
probably benign |
Het |
Supv3l1 |
A |
T |
10: 62,274,800 (GRCm39) |
M295K |
possibly damaging |
Het |
Sv2c |
T |
C |
13: 96,113,134 (GRCm39) |
D605G |
probably damaging |
Het |
Teddm1b |
G |
A |
1: 153,750,947 (GRCm39) |
W252* |
probably null |
Het |
Tes |
T |
A |
6: 17,086,195 (GRCm39) |
C29* |
probably null |
Het |
Thsd4 |
A |
G |
9: 59,890,030 (GRCm39) |
W856R |
probably damaging |
Het |
Treml4 |
A |
T |
17: 48,571,876 (GRCm39) |
D93V |
possibly damaging |
Het |
Tssk5 |
T |
C |
15: 76,257,973 (GRCm39) |
D128G |
probably damaging |
Het |
Ubr3 |
T |
A |
2: 69,850,819 (GRCm39) |
W1746R |
probably damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,201,434 (GRCm39) |
I357V |
probably benign |
Het |
Vmn2r87 |
A |
T |
10: 130,315,807 (GRCm39) |
D86E |
probably benign |
Het |
Zfp184 |
T |
G |
13: 22,144,377 (GRCm39) |
H694Q |
probably damaging |
Het |
Zranb3 |
A |
C |
1: 127,927,141 (GRCm39) |
F341L |
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 |
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'- TGATCGTCCTGAACTAGCCTG -3'
(R):5'- CAGCAGTGTCTTTGGCTCAG -3'
Sequencing Primer
(F):5'- GCCAGTCACTGAGAGCTCACAG -3'
(R):5'- CTCAGCGTGTGGTCCTG -3'
|
Posted On |
2018-02-27 |