Incidental Mutation 'R5269:Trim66'
ID |
400068 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim66
|
Ensembl Gene |
ENSMUSG00000031026 |
Gene Name |
tripartite motif-containing 66 |
Synonyms |
Tif1d, D7H11orf29 |
MMRRC Submission |
042834-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R5269 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109048213-109107341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109056797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 1120
(Y1120F)
|
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: Y1018F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000033339 Gene: ENSMUSG00000031026 AA Change: Y1018F
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: Y1018F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102350 Gene: ENSMUSG00000031026 AA Change: Y1018F
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: Y1120F
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000102352 Gene: ENSMUSG00000031026 AA Change: Y1120F
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
Adam39 |
A |
G |
8: 41,279,018 (GRCm39) |
I470V |
probably benign |
Het |
Agrn |
A |
T |
4: 156,253,447 (GRCm39) |
C1708S |
probably benign |
Het |
Agtpbp1 |
A |
G |
13: 59,621,557 (GRCm39) |
I42T |
probably damaging |
Het |
Akap6 |
T |
C |
12: 53,186,626 (GRCm39) |
C1347R |
probably damaging |
Het |
Antxr1 |
A |
G |
6: 87,157,165 (GRCm39) |
L452P |
probably damaging |
Het |
Arhgef33 |
T |
A |
17: 80,677,704 (GRCm39) |
V417D |
probably damaging |
Het |
Brca2 |
A |
G |
5: 150,462,688 (GRCm39) |
I817M |
possibly damaging |
Het |
Casp4 |
A |
T |
9: 5,321,521 (GRCm39) |
|
probably benign |
Het |
Cdh20 |
T |
C |
1: 104,861,882 (GRCm39) |
Y21H |
possibly damaging |
Het |
Cdr2 |
C |
T |
7: 120,557,557 (GRCm39) |
V323M |
possibly damaging |
Het |
Cebpa |
G |
A |
7: 34,819,283 (GRCm39) |
R147H |
probably benign |
Het |
Cetn4 |
C |
A |
3: 37,364,118 (GRCm39) |
E31* |
probably null |
Het |
Cobll1 |
G |
A |
2: 64,964,115 (GRCm39) |
Q189* |
probably null |
Het |
Colec12 |
A |
G |
18: 9,846,825 (GRCm39) |
T74A |
possibly damaging |
Het |
Crisp4 |
A |
G |
1: 18,198,934 (GRCm39) |
S124P |
probably damaging |
Het |
Eddm3b |
T |
A |
14: 51,354,178 (GRCm39) |
D55E |
probably damaging |
Het |
Elmo1 |
C |
A |
13: 20,633,656 (GRCm39) |
N439K |
probably benign |
Het |
Fabp12 |
T |
C |
3: 10,315,167 (GRCm39) |
N60S |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,178,704 (GRCm39) |
H1452L |
probably benign |
Het |
Flacc1 |
A |
G |
1: 58,730,919 (GRCm39) |
S46P |
possibly damaging |
Het |
Flrt2 |
T |
C |
12: 95,746,712 (GRCm39) |
V350A |
possibly damaging |
Het |
Ganab |
T |
C |
19: 8,889,301 (GRCm39) |
F626S |
probably damaging |
Het |
Ghr |
T |
C |
15: 3,349,561 (GRCm39) |
Y539C |
probably benign |
Het |
Gm6871 |
T |
C |
7: 41,197,525 (GRCm39) |
T112A |
probably damaging |
Het |
Gm7133 |
T |
A |
1: 97,110,848 (GRCm39) |
|
noncoding transcript |
Het |
Gon4l |
A |
C |
3: 88,802,835 (GRCm39) |
I1149L |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,511,409 (GRCm39) |
D45N |
probably benign |
Het |
H2-K2 |
A |
G |
17: 34,215,989 (GRCm39) |
|
probably benign |
Het |
Herc2 |
C |
T |
7: 55,818,618 (GRCm39) |
R2770* |
probably null |
Het |
Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
Itsn2 |
A |
G |
12: 4,683,553 (GRCm39) |
|
probably benign |
Het |
Klb |
A |
G |
5: 65,506,140 (GRCm39) |
D129G |
probably damaging |
Het |
Klf1 |
A |
G |
8: 85,629,969 (GRCm39) |
I265V |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
Map3k10 |
T |
C |
7: 27,357,957 (GRCm39) |
E607G |
probably benign |
Het |
Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
Mroh6 |
A |
G |
15: 75,757,639 (GRCm39) |
L457P |
probably damaging |
Het |
Mrpl21 |
T |
A |
19: 3,337,012 (GRCm39) |
C128S |
probably damaging |
Het |
Or51f23 |
T |
C |
7: 102,453,327 (GRCm39) |
V214A |
probably benign |
Het |
Paqr4 |
G |
T |
17: 23,957,187 (GRCm39) |
H105Q |
probably damaging |
Het |
Pcdhga10 |
A |
G |
18: 37,881,747 (GRCm39) |
I503V |
probably benign |
Het |
Pds5a |
T |
C |
5: 65,821,271 (GRCm39) |
N151S |
probably damaging |
Het |
Pif1 |
A |
G |
9: 65,499,111 (GRCm39) |
T444A |
possibly damaging |
Het |
Ppp2r3d |
T |
C |
9: 101,031,064 (GRCm39) |
R851G |
probably damaging |
Het |
R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
Ros1 |
T |
G |
10: 51,927,104 (GRCm39) |
Q2172P |
probably damaging |
Het |
Rpe65 |
A |
G |
3: 159,309,984 (GRCm39) |
T86A |
probably benign |
Het |
Rpl18a |
G |
A |
8: 71,348,932 (GRCm39) |
R15C |
possibly damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,108,684 (GRCm39) |
K258R |
probably benign |
Het |
Ska3 |
T |
A |
14: 58,059,573 (GRCm39) |
E84V |
possibly damaging |
Het |
Slc25a40 |
T |
A |
5: 8,497,409 (GRCm39) |
|
probably null |
Het |
Slf1 |
A |
T |
13: 77,252,700 (GRCm39) |
S274T |
probably benign |
Het |
Spata21 |
A |
T |
4: 140,830,332 (GRCm39) |
Q267H |
probably damaging |
Het |
Strbp |
A |
T |
2: 37,517,455 (GRCm39) |
W207R |
possibly damaging |
Het |
Taf6l |
T |
C |
19: 8,752,326 (GRCm39) |
E454G |
probably damaging |
Het |
Tcam1 |
C |
A |
11: 106,176,353 (GRCm39) |
L360I |
probably benign |
Het |
Tnxb |
G |
A |
17: 34,922,582 (GRCm39) |
R2465H |
possibly damaging |
Het |
Trp53 |
T |
A |
11: 69,480,031 (GRCm39) |
M243K |
probably damaging |
Het |
Ttl |
T |
A |
2: 128,910,831 (GRCm39) |
C72S |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,539,240 (GRCm39) |
V34582A |
probably benign |
Het |
Uqcrh |
T |
C |
4: 115,927,101 (GRCm39) |
T31A |
possibly damaging |
Het |
Usp40 |
A |
G |
1: 87,923,504 (GRCm39) |
C256R |
probably benign |
Het |
Vmn1r168 |
A |
G |
7: 23,240,839 (GRCm39) |
E232G |
probably benign |
Het |
Wdr72 |
A |
T |
9: 74,064,653 (GRCm39) |
I562F |
probably damaging |
Het |
Wnt4 |
A |
G |
4: 137,005,061 (GRCm39) |
N24S |
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 |
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'- AAGCTAGGGCCAGCTATGAG -3'
(R):5'- CACTGTCACATCTCTGACTGGG -3'
Sequencing Primer
(F):5'- GGCAAATCTGTTATAGAAGCCCTG -3'
(R):5'- ACATCTCTGACTGGGCAGCAG -3'
|
Posted On |
2016-07-06 |