Incidental Mutation 'R1181:Trim66'
ID |
101580 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim66
|
Ensembl Gene |
ENSMUSG00000031026 |
Gene Name |
tripartite motif-containing 66 |
Synonyms |
Tif1d, D7H11orf29 |
MMRRC Submission |
039253-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.226)
|
Stock # |
R1181 (G1)
|
Quality Score |
151 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
109449006-109508134 bp(-) (GRCm38) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 109484577 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102352
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033339]
[ENSMUST00000106739]
[ENSMUST00000106741]
|
AlphaFold |
Q924W6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000033339
|
SMART Domains |
Protein: ENSMUSP00000033339 Gene: ENSMUSG00000031026
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 null
Transcript: ENSMUST00000106739
|
SMART Domains |
Protein: ENSMUSP00000102350 Gene: ENSMUSG00000031026
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 null
Transcript: ENSMUST00000106741
|
SMART Domains |
Protein: ENSMUSP00000102352 Gene: ENSMUSG00000031026
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 |
0.9492  |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 97.9%
- 10x: 93.9%
- 20x: 84.2%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
T |
A |
19: 4,872,610 (GRCm38) |
Q64L |
probably benign |
Het |
Ankrd12 |
T |
C |
17: 66,042,574 (GRCm38) |
N88S |
probably benign |
Het |
Apcdd1 |
A |
T |
18: 62,937,097 (GRCm38) |
Y145F |
probably damaging |
Het |
Bnipl |
C |
A |
3: 95,245,649 (GRCm38) |
|
probably null |
Het |
Bod1 |
T |
C |
11: 31,666,943 (GRCm38) |
|
probably benign |
Het |
Cbarp |
G |
T |
10: 80,135,494 (GRCm38) |
H166N |
probably damaging |
Het |
Cdr2l |
T |
A |
11: 115,394,179 (GRCm38) |
I447N |
probably damaging |
Het |
Cped1 |
T |
G |
6: 22,215,562 (GRCm38) |
I698M |
probably damaging |
Het |
Ecm1 |
G |
A |
3: 95,735,350 (GRCm38) |
H404Y |
possibly damaging |
Het |
Ehbp1 |
C |
T |
11: 22,062,831 (GRCm38) |
V902I |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,522,854 (GRCm38) |
Q209R |
possibly damaging |
Het |
Fastk |
C |
T |
5: 24,441,731 (GRCm38) |
|
probably null |
Het |
Gm6797 |
T |
A |
X: 8,641,765 (GRCm38) |
|
noncoding transcript |
Het |
Gp1ba |
C |
T |
11: 70,641,427 (GRCm38) |
P673L |
probably damaging |
Het |
Gstm1 |
A |
G |
3: 108,014,811 (GRCm38) |
F170S |
probably damaging |
Het |
Hgf |
G |
C |
5: 16,618,925 (GRCm38) |
G707R |
probably damaging |
Het |
Klhl5 |
T |
C |
5: 65,162,885 (GRCm38) |
M594T |
probably damaging |
Het |
Kyat3 |
A |
C |
3: 142,737,770 (GRCm38) |
|
probably null |
Het |
Mettl14 |
C |
T |
3: 123,374,002 (GRCm38) |
G236S |
probably damaging |
Het |
Nob1 |
G |
A |
8: 107,421,490 (GRCm38) |
P107S |
probably damaging |
Het |
Nupl1 |
A |
T |
14: 60,244,670 (GRCm38) |
|
probably benign |
Het |
Olfr1155 |
G |
A |
2: 87,943,146 (GRCm38) |
L161F |
probably benign |
Het |
Olfr1463 |
C |
A |
19: 13,234,831 (GRCm38) |
H194N |
probably benign |
Het |
Olfr444 |
T |
A |
6: 42,955,558 (GRCm38) |
L20Q |
probably benign |
Het |
Olfr503 |
C |
A |
7: 108,545,302 (GRCm38) |
T257N |
probably benign |
Het |
Olfr676 |
T |
A |
7: 105,035,814 (GRCm38) |
N205K |
probably damaging |
Het |
Olfr808 |
A |
G |
10: 129,768,164 (GRCm38) |
I223V |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,347,587 (GRCm38) |
|
probably benign |
Het |
Pds5a |
A |
T |
5: 65,627,202 (GRCm38) |
|
probably null |
Het |
Pirb |
A |
T |
7: 3,717,638 (GRCm38) |
L287Q |
probably benign |
Het |
Plekha2 |
A |
C |
8: 25,059,202 (GRCm38) |
S189A |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,123,105 (GRCm38) |
V1991A |
probably benign |
Het |
Sec61g |
A |
C |
11: 16,504,722 (GRCm38) |
|
probably benign |
Het |
Serinc3 |
T |
C |
2: 163,625,526 (GRCm38) |
K445R |
probably damaging |
Het |
Shf |
G |
A |
2: 122,368,682 (GRCm38) |
P51S |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 83,016,745 (GRCm38) |
E324G |
probably benign |
Het |
Spink13 |
A |
G |
18: 62,608,170 (GRCm38) |
|
probably benign |
Het |
Tas2r121 |
A |
T |
6: 132,700,169 (GRCm38) |
I280N |
probably damaging |
Het |
Tbc1d7 |
T |
C |
13: 43,153,139 (GRCm38) |
I242M |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 36,063,177 (GRCm38) |
G1236R |
possibly damaging |
Het |
Tnni3k |
A |
T |
3: 154,875,513 (GRCm38) |
H600Q |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,969,703 (GRCm38) |
I387N |
probably damaging |
Het |
Tulp3 |
A |
T |
6: 128,325,952 (GRCm38) |
H301Q |
possibly damaging |
Het |
Ubqln5 |
T |
A |
7: 104,128,741 (GRCm38) |
Q292L |
probably damaging |
Het |
Zfp454 |
T |
C |
11: 50,873,586 (GRCm38) |
K229E |
probably damaging |
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 |
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 |
R6543:Trim66
|
UTSW |
7 |
109,475,879 (GRCm38) |
missense |
probably benign |
0.01 |
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'- GGCCTAGCTTCTGTGATTCAAGACC -3'
(R):5'- TGCTGCATACAGATGCAAGCCC -3'
Sequencing Primer
(F):5'- TCTGTGATTCAAGACCACACTC -3'
(R):5'- GTCACAGGTCACCAATTTTGGAC -3'
|
Posted On |
2014-01-15 |