Incidental Mutation 'R6543:Trim66'
| ID |
520934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim66
|
| Ensembl Gene |
ENSMUSG00000031026 |
| Gene Name |
tripartite motif-containing 66 |
| Synonyms |
Tif1d, D7H11orf29 |
| MMRRC Submission |
044669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R6543 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109449006-109508134 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109475879 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 392
(S392P)
|
| 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: S290P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: S290P
| 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: S290P
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: S290P
| 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: S392P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: S392P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137704
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap4e1 |
T |
C |
2: 127,066,605 |
V1091A |
probably benign |
Het |
| Arhgef11 |
A |
G |
3: 87,733,408 |
N1320D |
probably benign |
Het |
| Atl3 |
T |
A |
19: 7,510,098 |
F126Y |
probably damaging |
Het |
| Borcs5 |
C |
T |
6: 134,710,180 |
T167M |
probably damaging |
Het |
| Creld2 |
A |
G |
15: 88,825,278 |
T331A |
probably benign |
Het |
| Cuzd1 |
A |
G |
7: 131,309,768 |
V494A |
probably damaging |
Het |
| Dclk1 |
C |
T |
3: 55,500,131 |
P244S |
probably damaging |
Het |
| Esyt3 |
T |
C |
9: 99,338,772 |
N126S |
possibly damaging |
Het |
| Focad |
T |
C |
4: 88,279,256 |
S629P |
unknown |
Het |
| Gm11236 |
A |
G |
4: 73,638,978 |
E16G |
probably damaging |
Het |
| Gm17660 |
T |
C |
5: 104,074,875 |
|
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,985,594 |
L389P |
probably benign |
Het |
| Igkv4-91 |
A |
T |
6: 68,768,598 |
D105E |
probably damaging |
Het |
| Il20ra |
G |
A |
10: 19,749,323 |
A117T |
probably damaging |
Het |
| Il6ra |
A |
G |
3: 89,876,863 |
V367A |
probably damaging |
Het |
| Itga8 |
C |
T |
2: 12,301,644 |
V47M |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,350,682 |
Y220C |
probably damaging |
Het |
| Lims1 |
T |
A |
10: 58,412,451 |
C243* |
probably null |
Het |
| Man1a |
C |
A |
10: 53,934,981 |
G435* |
probably null |
Het |
| Mtor |
T |
A |
4: 148,545,596 |
I2250N |
probably damaging |
Het |
| N4bp1 |
G |
A |
8: 86,861,906 |
Q135* |
probably null |
Het |
| Nbeal2 |
A |
T |
9: 110,644,458 |
D76E |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,605 |
S669P |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,400,985 |
Q456* |
probably null |
Het |
| Olfr803 |
C |
A |
10: 129,691,990 |
G17V |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,665,247 |
A1557T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,160,752 |
|
probably null |
Het |
| Prokr2 |
T |
A |
2: 132,373,899 |
Q53L |
probably benign |
Het |
| Pxmp4 |
C |
A |
2: 154,588,059 |
A137S |
possibly damaging |
Het |
| Rasef |
C |
T |
4: 73,780,519 |
|
probably benign |
Het |
| Rsg1 |
T |
G |
4: 141,217,288 |
V50G |
probably benign |
Het |
| Scrt2 |
C |
T |
2: 152,093,143 |
A72V |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 125,450,362 |
E1171G |
possibly damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,638,401 |
T923A |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,133,146 |
K141R |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,958,666 |
|
probably null |
Het |
| Sympk |
A |
T |
7: 19,036,830 |
H282L |
probably damaging |
Het |
| Tnr |
A |
G |
1: 159,924,107 |
Y1324C |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,748,535 |
N170S |
possibly damaging |
Het |
| Trav6-3 |
T |
C |
14: 53,428,762 |
M1T |
probably null |
Het |
| Ttn |
T |
C |
2: 76,768,811 |
T10958A |
probably damaging |
Het |
| Ubr7 |
A |
G |
12: 102,768,235 |
K256R |
probably benign |
Het |
|
| Other mutations in Trim66 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01539:Trim66
|
APN |
7 |
109,455,066 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01758:Trim66
|
APN |
7 |
109,486,045 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01982:Trim66
|
APN |
7 |
109,458,763 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01983:Trim66
|
APN |
7 |
109,458,251 (GRCm38) |
nonsense |
probably null |
|
|
IGL02149:Trim66
|
APN |
7 |
109,460,902 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02392:Trim66
|
APN |
7 |
109,460,274 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02483:Trim66
|
APN |
7 |
109,477,630 (GRCm38) |
splice site |
probably benign |
|
|
IGL02832:Trim66
|
APN |
7 |
109,460,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02945:Trim66
|
APN |
7 |
109,460,176 (GRCm38) |
nonsense |
probably null |
|
|
IGL03085:Trim66
|
APN |
7 |
109,458,745 (GRCm38) |
missense |
probably benign |
0.17 |
|
PIT1430001:Trim66
|
UTSW |
7 |
109,475,247 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0326:Trim66
|
UTSW |
7 |
109,460,172 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0358:Trim66
|
UTSW |
7 |
109,460,176 (GRCm38) |
nonsense |
probably null |
|
|
R0401:Trim66
|
UTSW |
7 |
109,475,264 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0470:Trim66
|
UTSW |
7 |
109,457,542 (GRCm38) |
splice site |
probably benign |
|
|
R0568:Trim66
|
UTSW |
7 |
109,460,695 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0669:Trim66
|
UTSW |
7 |
109,454,992 (GRCm38) |
intron |
probably benign |
|
|
R0980:Trim66
|
UTSW |
7 |
109,455,670 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1015:Trim66
|
UTSW |
7 |
109,455,233 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1078:Trim66
|
UTSW |
7 |
109,472,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1099:Trim66
|
UTSW |
7 |
109,475,454 (GRCm38) |
missense |
probably benign |
0.34 |
|
R1181:Trim66
|
UTSW |
7 |
109,484,577 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1497:Trim66
|
UTSW |
7 |
109,484,619 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1583:Trim66
|
UTSW |
7 |
109,455,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1843:Trim66
|
UTSW |
7 |
109,475,839 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1998:Trim66
|
UTSW |
7 |
109,484,577 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2016:Trim66
|
UTSW |
7 |
109,472,232 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2143:Trim66
|
UTSW |
7 |
109,475,113 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2144:Trim66
|
UTSW |
7 |
109,475,113 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2145:Trim66
|
UTSW |
7 |
109,475,113 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3945:Trim66
|
UTSW |
7 |
109,472,268 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4012:Trim66
|
UTSW |
7 |
109,458,131 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4464:Trim66
|
UTSW |
7 |
109,477,690 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R4473:Trim66
|
UTSW |
7 |
109,481,995 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4729:Trim66
|
UTSW |
7 |
109,456,060 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4730:Trim66
|
UTSW |
7 |
109,483,069 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4775:Trim66
|
UTSW |
7 |
109,457,589 (GRCm38) |
nonsense |
probably null |
|
|
R4819:Trim66
|
UTSW |
7 |
109,457,586 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5269:Trim66
|
UTSW |
7 |
109,457,590 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5557:Trim66
|
UTSW |
7 |
109,483,737 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5832:Trim66
|
UTSW |
7 |
109,455,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6220:Trim66
|
UTSW |
7 |
109,483,093 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6243:Trim66
|
UTSW |
7 |
109,460,274 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6374:Trim66
|
UTSW |
7 |
109,486,062 (GRCm38) |
missense |
probably benign |
|
|
R6450:Trim66
|
UTSW |
7 |
109,460,738 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6788:Trim66
|
UTSW |
7 |
109,477,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6842:Trim66
|
UTSW |
7 |
109,460,776 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7169:Trim66
|
UTSW |
7 |
109,455,121 (GRCm38) |
missense |
probably benign |
0.25 |
|
R7257:Trim66
|
UTSW |
7 |
109,460,244 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7328:Trim66
|
UTSW |
7 |
109,457,751 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7616:Trim66
|
UTSW |
7 |
109,483,749 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8423:Trim66
|
UTSW |
7 |
109,475,392 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8855:Trim66
|
UTSW |
7 |
109,481,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9130:Trim66
|
UTSW |
7 |
109,477,689 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9137:Trim66
|
UTSW |
7 |
109,475,123 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9640:Trim66
|
UTSW |
7 |
109,475,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF013:Trim66
|
UTSW |
7 |
109,460,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF024:Trim66
|
UTSW |
7 |
109,460,740 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATTTCAGAAGGCTGTCGG -3'
(R):5'- GCTCCTGCAAATATCCCTGGAAG -3'
Sequencing Primer
(F):5'- TGTCGGAAACTGTGAGCC -3'
(R):5'- GCAAATATCCCTGGAAGCCTTGTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation