Incidental Mutation 'R6788:Trim66'
ID |
532493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim66
|
Ensembl Gene |
ENSMUSG00000031026 |
Gene Name |
tripartite motif-containing 66 |
Synonyms |
Tif1d, D7H11orf29 |
MMRRC Submission |
044902-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R6788 (G1)
|
Quality Score |
161.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109048213-109107341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 109076961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 326
(I326N)
|
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: I224N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000033339 Gene: ENSMUSG00000031026 AA Change: I224N
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: I224N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102350 Gene: ENSMUSG00000031026 AA Change: I224N
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: I326N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102352 Gene: ENSMUSG00000031026 AA Change: I326N
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 |
0.3714 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.4%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,580,199 (GRCm39) |
V2001E |
probably benign |
Het |
Ahsg |
A |
G |
16: 22,713,585 (GRCm39) |
D122G |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,840,553 (GRCm39) |
Y1616C |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,619,205 (GRCm39) |
|
probably null |
Het |
Atp7b |
T |
C |
8: 22,494,391 (GRCm39) |
I1023V |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,979,216 (GRCm39) |
Y699* |
probably null |
Het |
Car12 |
C |
T |
9: 66,659,244 (GRCm39) |
S183L |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,324,490 (GRCm39) |
S57P |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,619,145 (GRCm39) |
D74G |
probably damaging |
Het |
Cers6 |
T |
C |
2: 68,938,903 (GRCm39) |
Y374H |
possibly damaging |
Het |
Chmp4c |
T |
A |
3: 10,432,195 (GRCm39) |
M35K |
possibly damaging |
Het |
Crkl |
G |
A |
16: 17,301,645 (GRCm39) |
D300N |
probably damaging |
Het |
Cyp3a41a |
A |
G |
5: 145,642,639 (GRCm39) |
M240T |
probably benign |
Het |
Dipk2a |
C |
T |
9: 94,406,502 (GRCm39) |
V302I |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,523,470 (GRCm39) |
L1986F |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,867,439 (GRCm39) |
I297T |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
Dpys |
T |
A |
15: 39,720,559 (GRCm39) |
H67L |
probably damaging |
Het |
Epc2 |
T |
G |
2: 49,422,099 (GRCm39) |
V331G |
probably benign |
Het |
Fnbp1l |
G |
A |
3: 122,339,956 (GRCm39) |
R344* |
probably null |
Het |
Gmip |
G |
T |
8: 70,263,824 (GRCm39) |
L89F |
possibly damaging |
Het |
Gmip |
G |
C |
8: 70,263,826 (GRCm39) |
R90P |
probably damaging |
Het |
Gpi1 |
A |
G |
7: 33,928,415 (GRCm39) |
S74P |
probably damaging |
Het |
Gys1 |
G |
A |
7: 45,094,102 (GRCm39) |
E406K |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
Klhl29 |
C |
T |
12: 5,134,393 (GRCm39) |
V673M |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,360,020 (GRCm39) |
T332A |
probably benign |
Het |
Loxl4 |
T |
C |
19: 42,596,792 (GRCm39) |
D60G |
probably damaging |
Het |
Lrr1 |
T |
C |
12: 69,221,449 (GRCm39) |
I197T |
probably damaging |
Het |
Map1lc3b |
A |
G |
8: 122,320,316 (GRCm39) |
N43S |
probably benign |
Het |
Map3k21 |
A |
T |
8: 126,666,605 (GRCm39) |
D599V |
probably benign |
Het |
Mastl |
T |
C |
2: 23,023,710 (GRCm39) |
N338D |
probably benign |
Het |
Mepe |
A |
T |
5: 104,486,074 (GRCm39) |
R405* |
probably null |
Het |
Mrps30 |
T |
C |
13: 118,516,908 (GRCm39) |
E437G |
probably benign |
Het |
Mup15 |
A |
G |
4: 61,356,465 (GRCm39) |
V100A |
possibly damaging |
Het |
Olfml1 |
A |
T |
7: 107,167,075 (GRCm39) |
I35F |
probably damaging |
Het |
Olfml2a |
T |
A |
2: 38,850,238 (GRCm39) |
Y651* |
probably null |
Het |
Or2h1b |
T |
A |
17: 37,462,713 (GRCm39) |
D50V |
probably damaging |
Het |
Otog |
T |
C |
7: 45,947,741 (GRCm39) |
V113A |
probably damaging |
Het |
Parvg |
C |
T |
15: 84,210,464 (GRCm39) |
L44F |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,498,839 (GRCm39) |
D1553E |
probably damaging |
Het |
Pcyt2 |
C |
T |
11: 120,505,200 (GRCm39) |
G122S |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Polq |
C |
T |
16: 36,897,510 (GRCm39) |
T2134I |
probably damaging |
Het |
Prkce |
T |
G |
17: 86,937,489 (GRCm39) |
F641V |
probably damaging |
Het |
Prss1 |
T |
C |
6: 41,440,654 (GRCm39) |
I243T |
possibly damaging |
Het |
Pxmp2 |
A |
G |
5: 110,429,185 (GRCm39) |
F91L |
probably benign |
Het |
Ralgapb |
G |
A |
2: 158,278,486 (GRCm39) |
G5R |
probably damaging |
Het |
Rasgef1a |
T |
G |
6: 118,064,174 (GRCm39) |
M337R |
possibly damaging |
Het |
Rassf2 |
A |
G |
2: 131,844,845 (GRCm39) |
M199T |
probably damaging |
Het |
Rtbdn |
A |
T |
8: 85,679,303 (GRCm39) |
Y67F |
probably null |
Het |
Scamp3 |
T |
C |
3: 89,089,256 (GRCm39) |
V271A |
probably benign |
Het |
Sema3a |
A |
T |
5: 13,647,584 (GRCm39) |
R613W |
possibly damaging |
Het |
Slc4a3 |
A |
T |
1: 75,527,959 (GRCm39) |
I206F |
probably damaging |
Het |
Slc9b1 |
A |
G |
3: 135,063,518 (GRCm39) |
|
probably null |
Het |
Smchd1 |
C |
A |
17: 71,782,096 (GRCm39) |
V22F |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,783,794 (GRCm39) |
|
probably benign |
Het |
Spaca7b |
T |
C |
8: 11,728,584 (GRCm39) |
E29G |
possibly damaging |
Het |
Spata31e4 |
A |
C |
13: 50,857,131 (GRCm39) |
H923P |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,861,117 (GRCm39) |
L89P |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,076,498 (GRCm39) |
E152G |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 49,127,528 (GRCm39) |
F50S |
probably damaging |
Het |
Tpgs2 |
T |
G |
18: 25,262,927 (GRCm39) |
N231H |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,219,747 (GRCm39) |
N2161K |
probably damaging |
Het |
Trim28 |
A |
G |
7: 12,759,273 (GRCm39) |
D129G |
probably benign |
Het |
Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
Uggt1 |
T |
A |
1: 36,269,769 (GRCm39) |
T83S |
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,863,754 (GRCm39) |
I587T |
probably damaging |
Het |
Zpld1 |
A |
T |
16: 55,052,603 (GRCm39) |
V337D |
possibly 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 |
|
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 |
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'- TTCTCTTAGGCATGTGCTGACC -3'
(R):5'- ATGAGTGTAGGGTTCCAGAGC -3'
Sequencing Primer
(F):5'- CATGTGCTGACCCACCTAG -3'
(R):5'- TTCCAGAGCTTTGGGAAGAG -3'
|
Posted On |
2018-08-29 |