Incidental Mutation 'R0568:Trim66'
ID |
46264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim66
|
Ensembl Gene |
ENSMUSG00000031026 |
Gene Name |
tripartite motif-containing 66 |
Synonyms |
Tif1d, D7H11orf29 |
MMRRC Submission |
038759-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R0568 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109048213-109107341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109059902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 828
(H828R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033339]
[ENSMUST00000106739]
[ENSMUST00000106741]
|
AlphaFold |
Q924W6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033339
AA Change: H726R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000033339 Gene: ENSMUSG00000031026 AA Change: H726R
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 benign
Transcript: ENSMUST00000106739
AA Change: H726R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000102350 Gene: ENSMUSG00000031026 AA Change: H726R
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 benign
Transcript: ENSMUST00000106741
AA Change: H828R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000102352 Gene: ENSMUSG00000031026 AA Change: H828R
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 |
0.0632 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.4%
|
Validation Efficiency |
100% (38/38) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat1 |
G |
A |
4: 49,451,003 (GRCm39) |
T36I |
possibly damaging |
Het |
Adamts20 |
T |
C |
15: 94,189,594 (GRCm39) |
|
probably benign |
Het |
Adamtsl1 |
T |
C |
4: 86,336,789 (GRCm39) |
L1558S |
probably damaging |
Het |
Ap3b2 |
A |
G |
7: 81,114,377 (GRCm39) |
|
probably null |
Het |
Bag2 |
T |
C |
1: 33,786,059 (GRCm39) |
M88V |
probably benign |
Het |
Brms1l |
A |
G |
12: 55,908,173 (GRCm39) |
|
probably null |
Het |
C8b |
A |
G |
4: 104,650,577 (GRCm39) |
I462V |
probably benign |
Het |
Cfap410 |
C |
T |
10: 77,818,872 (GRCm39) |
T181I |
possibly damaging |
Het |
Cfap410 |
A |
T |
10: 77,820,381 (GRCm39) |
*250C |
probably null |
Het |
Cnpy4 |
A |
G |
5: 138,190,839 (GRCm39) |
E167G |
probably damaging |
Het |
Copa |
T |
C |
1: 171,939,704 (GRCm39) |
V624A |
possibly damaging |
Het |
Gm4553 |
G |
T |
7: 141,719,357 (GRCm39) |
P24T |
unknown |
Het |
Gna12 |
A |
G |
5: 140,746,638 (GRCm39) |
V269A |
possibly damaging |
Het |
Gtf2ird2 |
G |
T |
5: 134,240,083 (GRCm39) |
E302* |
probably null |
Het |
Hmcn2 |
C |
A |
2: 31,305,248 (GRCm39) |
S3140R |
probably benign |
Het |
Hspa4 |
A |
G |
11: 53,153,703 (GRCm39) |
|
probably benign |
Het |
Hspbp1 |
A |
T |
7: 4,687,431 (GRCm39) |
L60* |
probably null |
Het |
Lats1 |
A |
T |
10: 7,588,292 (GRCm39) |
I970F |
possibly damaging |
Het |
Lipo3 |
T |
C |
19: 33,559,442 (GRCm39) |
|
probably benign |
Het |
Lrrc3 |
T |
A |
10: 77,737,419 (GRCm39) |
R6W |
probably damaging |
Het |
Lxn |
C |
T |
3: 67,368,335 (GRCm39) |
A143T |
probably damaging |
Het |
Mga |
T |
C |
2: 119,765,903 (GRCm39) |
I1390T |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,386,835 (GRCm39) |
I286N |
probably damaging |
Het |
Or4c107 |
T |
A |
2: 88,789,387 (GRCm39) |
Y192* |
probably null |
Het |
Pitpnm2 |
A |
G |
5: 124,278,580 (GRCm39) |
|
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,433,694 (GRCm39) |
V581A |
probably benign |
Het |
Polr3d |
A |
T |
14: 70,676,959 (GRCm39) |
H378Q |
possibly damaging |
Het |
Ptpn13 |
T |
C |
5: 103,637,631 (GRCm39) |
V173A |
probably damaging |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Smc4 |
T |
C |
3: 68,929,794 (GRCm39) |
|
probably null |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Syngr3 |
C |
T |
17: 24,905,555 (GRCm39) |
A140T |
probably benign |
Het |
Tent2 |
A |
G |
13: 93,291,500 (GRCm39) |
S381P |
probably benign |
Het |
Tprn |
T |
C |
2: 25,154,333 (GRCm39) |
V545A |
probably damaging |
Het |
Ugt2b5 |
G |
A |
5: 87,285,224 (GRCm39) |
|
probably benign |
Het |
Vps9d1 |
A |
G |
8: 123,973,487 (GRCm39) |
V432A |
probably damaging |
Het |
Zswim9 |
A |
T |
7: 12,994,952 (GRCm39) |
D401E |
probably damaging |
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 |
|
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 |
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'- GGGAATAGCCAAATCCTTGGGACC -3'
(R):5'- AAACTGTGTCCAGCCTGATGAGTG -3'
Sequencing Primer
(F):5'- CTTGTCCTACTGAGTCTGAGAAACG -3'
(R):5'- CAGCCTGATGAGTGTTTCAAACC -3'
|
Posted On |
2013-06-11 |