Incidental Mutation 'R4730:Trim66'
ID |
358760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim66
|
Ensembl Gene |
ENSMUSG00000031026 |
Gene Name |
tripartite motif-containing 66 |
Synonyms |
Tif1d, D7H11orf29 |
MMRRC Submission |
041990-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R4730 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109048213-109107341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109082276 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 226
(S226P)
|
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: S124P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000033339 Gene: ENSMUSG00000031026 AA Change: S124P
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: S124P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102350 Gene: ENSMUSG00000031026 AA Change: S124P
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: S226P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102352 Gene: ENSMUSG00000031026 AA Change: S226P
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 |
0.0887 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
99% (70/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff1 |
A |
G |
5: 103,990,939 (GRCm39) |
Q963R |
possibly damaging |
Het |
Arhgef28 |
C |
T |
13: 98,114,650 (GRCm39) |
E645K |
probably benign |
Het |
Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
Col4a2 |
A |
G |
8: 11,487,590 (GRCm39) |
N964S |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Duox1 |
T |
G |
2: 122,164,312 (GRCm39) |
L924R |
probably damaging |
Het |
Edem2 |
T |
C |
2: 155,547,618 (GRCm39) |
E398G |
possibly damaging |
Het |
Engase |
A |
G |
11: 118,373,748 (GRCm39) |
N297D |
probably damaging |
Het |
Esp4 |
A |
C |
17: 40,913,445 (GRCm39) |
Y104S |
unknown |
Het |
Esp4 |
C |
A |
17: 40,913,446 (GRCm39) |
Y104* |
probably null |
Het |
Fat1 |
A |
T |
8: 45,486,514 (GRCm39) |
N3356I |
probably damaging |
Het |
Gm3867 |
T |
A |
9: 36,168,550 (GRCm39) |
|
noncoding transcript |
Het |
Gm6818 |
C |
T |
7: 38,101,918 (GRCm39) |
|
noncoding transcript |
Het |
Grip2 |
T |
C |
6: 91,762,693 (GRCm39) |
*175W |
probably null |
Het |
Gucy1b2 |
A |
G |
14: 62,645,208 (GRCm39) |
V617A |
probably damaging |
Het |
Gzmc |
C |
T |
14: 56,469,089 (GRCm39) |
C210Y |
probably damaging |
Het |
Hmg20a |
T |
A |
9: 56,374,703 (GRCm39) |
S20T |
possibly damaging |
Het |
Hs3st1 |
A |
T |
5: 39,772,148 (GRCm39) |
L165* |
probably null |
Het |
Ighv1-26 |
A |
G |
12: 114,752,409 (GRCm39) |
I6T |
probably benign |
Het |
Kcnk13 |
A |
G |
12: 100,027,974 (GRCm39) |
K350E |
probably damaging |
Het |
Lin9 |
T |
A |
1: 180,493,416 (GRCm39) |
L198* |
probably null |
Het |
Lrfn5 |
C |
T |
12: 61,887,505 (GRCm39) |
A431V |
probably benign |
Het |
Lta |
C |
T |
17: 35,423,065 (GRCm39) |
R86Q |
probably benign |
Het |
Map3k4 |
T |
A |
17: 12,467,861 (GRCm39) |
I1058L |
probably damaging |
Het |
Mtif2 |
T |
A |
11: 29,490,834 (GRCm39) |
S513T |
probably benign |
Het |
Muc4 |
C |
T |
16: 32,570,032 (GRCm39) |
T364I |
possibly damaging |
Het |
Nav1 |
C |
A |
1: 135,535,049 (GRCm39) |
|
probably benign |
Het |
Nfrkb |
T |
C |
9: 31,321,547 (GRCm39) |
V748A |
probably benign |
Het |
Obox6 |
A |
T |
7: 15,568,738 (GRCm39) |
M46K |
possibly damaging |
Het |
Or5g25 |
T |
C |
2: 85,478,336 (GRCm39) |
T110A |
probably benign |
Het |
Or5k1b |
T |
C |
16: 58,581,105 (GRCm39) |
I145V |
probably benign |
Het |
Or5t17 |
C |
T |
2: 86,832,510 (GRCm39) |
R66W |
possibly damaging |
Het |
Or6c33 |
G |
A |
10: 129,853,416 (GRCm39) |
R62Q |
probably damaging |
Het |
Or9g19 |
G |
T |
2: 85,600,405 (GRCm39) |
E87* |
probably null |
Het |
P4htm |
A |
G |
9: 108,456,971 (GRCm39) |
V412A |
possibly damaging |
Het |
Phb2 |
T |
C |
6: 124,690,086 (GRCm39) |
S92P |
probably damaging |
Het |
Phtf1 |
G |
T |
3: 103,894,751 (GRCm39) |
R147L |
probably damaging |
Het |
Pigk |
C |
T |
3: 152,448,203 (GRCm39) |
Q189* |
probably null |
Het |
Plxnc1 |
G |
A |
10: 94,703,330 (GRCm39) |
|
probably benign |
Het |
Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
Ptprg |
G |
A |
14: 12,213,713 (GRCm38) |
G252D |
probably damaging |
Het |
Rnf4 |
G |
T |
5: 34,508,147 (GRCm39) |
V134F |
possibly damaging |
Het |
Scarf2 |
A |
G |
16: 17,620,877 (GRCm39) |
T182A |
probably damaging |
Het |
Setd1a |
A |
G |
7: 127,396,502 (GRCm39) |
|
probably benign |
Het |
Sgpp1 |
A |
G |
12: 75,781,713 (GRCm39) |
F209L |
probably benign |
Het |
Sh3d19 |
T |
A |
3: 86,024,171 (GRCm39) |
S567T |
possibly damaging |
Het |
Slc4a2 |
C |
T |
5: 24,639,878 (GRCm39) |
R520W |
probably damaging |
Het |
Slf1 |
T |
C |
13: 77,194,751 (GRCm39) |
Q858R |
probably damaging |
Het |
Slitrk3 |
G |
T |
3: 72,956,852 (GRCm39) |
A640E |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,608,073 (GRCm39) |
Y44C |
probably damaging |
Het |
Spon1 |
A |
G |
7: 113,632,306 (GRCm39) |
E543G |
possibly damaging |
Het |
Strn4 |
A |
G |
7: 16,562,719 (GRCm39) |
Q286R |
possibly damaging |
Het |
Suz12 |
T |
C |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
Syna |
T |
A |
5: 134,587,440 (GRCm39) |
E503V |
probably damaging |
Het |
Syt14 |
C |
T |
1: 192,613,094 (GRCm39) |
D569N |
probably damaging |
Het |
Sytl2 |
A |
G |
7: 90,030,457 (GRCm39) |
|
probably benign |
Het |
Tmprss11g |
G |
T |
5: 86,637,091 (GRCm39) |
S335* |
probably null |
Het |
Tmprss11g |
A |
T |
5: 86,637,092 (GRCm39) |
S335T |
probably damaging |
Het |
Tubgcp3 |
T |
C |
8: 12,707,654 (GRCm39) |
T112A |
probably benign |
Het |
Ulk4 |
T |
C |
9: 121,092,791 (GRCm39) |
S149G |
probably benign |
Het |
Usp53 |
T |
C |
3: 122,756,582 (GRCm39) |
D108G |
probably null |
Het |
Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
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 |
|
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'- GATCGTCCTGAACTAGCCTG -3'
(R):5'- TCAGCAGTGTCTTTGGCTCAG -3'
Sequencing Primer
(F):5'- TGGCGCCAGTCACTGAGAG -3'
(R):5'- TGGTCCTGGCCTCTGAG -3'
|
Posted On |
2015-11-11 |