Incidental Mutation 'R9137:Trim66'
| ID |
694086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim66
|
| Ensembl Gene |
ENSMUSG00000031026 |
| Gene Name |
tripartite motif-containing 66 |
| Synonyms |
Tif1d, D7H11orf29 |
| MMRRC Submission |
068932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R9137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109048213-109107341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 109074330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 644
(V644M)
|
| 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: V542M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: V542M
| 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: V542M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: V542M
| 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: V644M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: V644M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,685,312 (GRCm39) |
K299R |
probably benign |
Het |
| Abca12 |
T |
G |
1: 71,298,525 (GRCm39) |
I2366L |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,688,133 (GRCm39) |
V1749A |
probably damaging |
Het |
| Ano9 |
C |
T |
7: 140,684,028 (GRCm39) |
V546M |
probably damaging |
Het |
| Atad5 |
A |
T |
11: 79,986,481 (GRCm39) |
S523C |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 135,996,744 (GRCm39) |
D115V |
possibly damaging |
Het |
| Ccdc18 |
T |
G |
5: 108,296,856 (GRCm39) |
C220G |
probably damaging |
Het |
| Cfap61 |
A |
C |
2: 146,042,685 (GRCm39) |
K1153Q |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,601,203 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,172 (GRCm39) |
K144R |
unknown |
Het |
| Cr2 |
A |
G |
1: 194,850,640 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
A |
C |
5: 145,406,413 (GRCm39) |
V13G |
unknown |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,109 (GRCm39) |
N72D |
unknown |
Het |
| Enah |
A |
G |
1: 181,739,160 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,246,511 (GRCm39) |
|
probably benign |
Het |
| Gabrr2 |
T |
A |
4: 33,095,571 (GRCm39) |
S487T |
probably benign |
Het |
| Gas2l2 |
G |
A |
11: 83,315,894 (GRCm39) |
T275M |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,496,238 (GRCm39) |
K3877E |
possibly damaging |
Het |
| Hhla1 |
G |
T |
15: 65,795,761 (GRCm39) |
Q482K |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,004,712 (GRCm39) |
T437A |
probably benign |
Het |
| Iars1 |
C |
T |
13: 49,855,350 (GRCm39) |
T259M |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itpk1 |
T |
C |
12: 102,540,291 (GRCm39) |
E264G |
probably benign |
Het |
| Katnb1 |
G |
A |
8: 95,824,320 (GRCm39) |
M501I |
possibly damaging |
Het |
| Kcna10 |
G |
A |
3: 107,102,497 (GRCm39) |
G376E |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,834,713 (GRCm39) |
F397I |
probably damaging |
Het |
| Klf14 |
A |
T |
6: 30,934,855 (GRCm39) |
C260S |
probably damaging |
Het |
| Lgi2 |
T |
A |
5: 52,695,361 (GRCm39) |
S533C |
probably damaging |
Het |
| Marveld1 |
A |
G |
19: 42,136,440 (GRCm39) |
D118G |
probably benign |
Het |
| Msln |
C |
T |
17: 25,969,084 (GRCm39) |
A434T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,150,502 (GRCm39) |
|
probably benign |
Het |
| Nes |
G |
T |
3: 87,878,651 (GRCm39) |
G48W |
probably damaging |
Het |
| Or5k3 |
T |
A |
16: 58,969,635 (GRCm39) |
C141S |
probably benign |
Het |
| Osmr |
T |
A |
15: 6,856,709 (GRCm39) |
E479D |
probably benign |
Het |
| Otop3 |
A |
G |
11: 115,235,868 (GRCm39) |
H500R |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
C |
T |
7: 24,310,723 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3a |
T |
A |
12: 101,021,794 (GRCm39) |
I369F |
possibly damaging |
Het |
| Rarres1 |
T |
A |
3: 67,422,801 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,214,736 (GRCm39) |
V1287A |
probably damaging |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,072,647 (GRCm39) |
C498* |
probably null |
Het |
| Smtn |
T |
G |
11: 3,472,838 (GRCm39) |
K278T |
possibly damaging |
Het |
| Sp140 |
T |
C |
1: 85,570,297 (GRCm39) |
S405P |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,715 (GRCm39) |
I155N |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,712,433 (GRCm39) |
V77A |
probably benign |
Het |
| St8sia2 |
T |
G |
7: 73,610,654 (GRCm39) |
I210L |
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,840,572 (GRCm39) |
I418T |
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,695,990 (GRCm39) |
F88L |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,612,486 (GRCm39) |
I1253T |
probably benign |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,409 (GRCm39) |
N736D |
probably damaging |
Het |
| Zfat |
T |
A |
15: 68,051,794 (GRCm39) |
T667S |
probably benign |
Het |
| Zfp874a |
T |
C |
13: 67,590,841 (GRCm39) |
E281G |
probably 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 |
|
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 |
|
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'- TGCTCAGCAGAGAGTTTCAGG -3'
(R):5'- GGGCCACCATCAGAAGCTAAAG -3'
Sequencing Primer
(F):5'- CAGCAGAGAGTTTCAGGTAGCTTTC -3'
(R):5'- GCTCAGCCACTTTCAGCAG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation