Incidental Mutation 'R5557:Trim66'
| ID |
435459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trim66
|
| Ensembl Gene |
ENSMUSG00000031026 |
| Gene Name |
tripartite motif-containing 66 |
| Synonyms |
Tif1d, D7H11orf29 |
| MMRRC Submission |
043114-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R5557 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
109048213-109107341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109082944 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 166
(Y166C)
|
| 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: Y64C
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000033339
Gene: ENSMUSG00000031026
AA Change: Y64C
| 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: Y64C
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102350
Gene: ENSMUSG00000031026
AA Change: Y64C
| 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: Y166C
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102352
Gene: ENSMUSG00000031026
AA Change: Y166C
| 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 |
0.2558 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
T |
A |
19: 3,767,501 (GRCm39) |
F363I |
possibly damaging |
Het |
| Abcb1a |
T |
A |
5: 8,764,949 (GRCm39) |
N646K |
probably benign |
Het |
| Abi2 |
C |
A |
1: 60,478,071 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,863,651 (GRCm39) |
S35P |
probably benign |
Het |
| B4galt3 |
A |
G |
1: 171,100,089 (GRCm39) |
|
probably null |
Het |
| Bag5 |
T |
C |
12: 111,676,524 (GRCm39) |
N433S |
probably benign |
Het |
| Birc7 |
T |
A |
2: 180,574,772 (GRCm39) |
V218D |
probably benign |
Het |
| Catsperg1 |
T |
G |
7: 28,895,296 (GRCm39) |
N332T |
possibly damaging |
Het |
| Ccdc191 |
A |
C |
16: 43,728,976 (GRCm39) |
T179P |
probably damaging |
Het |
| Col4a3 |
C |
T |
1: 82,692,968 (GRCm39) |
|
probably benign |
Het |
| Crlf1 |
A |
G |
8: 70,951,317 (GRCm39) |
I65M |
probably benign |
Het |
| Dennd4a |
T |
G |
9: 64,811,509 (GRCm39) |
D1376E |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dlg4 |
C |
T |
11: 69,933,106 (GRCm39) |
P504L |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,560,819 (GRCm39) |
T886A |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,321,667 (GRCm39) |
V4394E |
probably damaging |
Het |
| Endov |
T |
C |
11: 119,393,186 (GRCm39) |
M112T |
possibly damaging |
Het |
| Eps8 |
T |
C |
6: 137,456,094 (GRCm39) |
M796V |
possibly damaging |
Het |
| Fam107b |
T |
A |
2: 3,771,791 (GRCm39) |
Y7* |
probably null |
Het |
| Farsb |
C |
T |
1: 78,445,888 (GRCm39) |
|
probably null |
Het |
| Fasn |
A |
G |
11: 120,703,252 (GRCm39) |
M1591T |
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,248,731 (GRCm39) |
A384T |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,489,564 (GRCm39) |
D349G |
probably damaging |
Het |
| Glis3 |
G |
T |
19: 28,241,409 (GRCm39) |
H842N |
probably benign |
Het |
| Gm17067 |
G |
A |
7: 42,357,945 (GRCm39) |
P186S |
probably damaging |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hk3 |
A |
T |
13: 55,159,888 (GRCm39) |
L362* |
probably null |
Het |
| Ing3 |
A |
G |
6: 21,968,908 (GRCm39) |
H130R |
possibly damaging |
Het |
| Inpp4b |
A |
T |
8: 82,678,888 (GRCm39) |
Q306L |
probably damaging |
Het |
| Kcnq2 |
T |
C |
2: 180,776,690 (GRCm39) |
K66E |
probably benign |
Het |
| Kif21b |
C |
A |
1: 136,097,797 (GRCm39) |
N1352K |
probably damaging |
Het |
| Lrig3 |
A |
T |
10: 125,808,003 (GRCm39) |
N84Y |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,589,884 (GRCm39) |
Y55* |
probably null |
Het |
| Mmachc |
T |
C |
4: 116,563,097 (GRCm39) |
H86R |
probably damaging |
Het |
| Ncbp1 |
T |
C |
4: 46,165,259 (GRCm39) |
V524A |
probably benign |
Het |
| Or10ag54 |
A |
T |
2: 87,099,736 (GRCm39) |
T204S |
possibly damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,358 (GRCm39) |
C179S |
probably damaging |
Het |
| Or4c102 |
G |
A |
2: 88,422,897 (GRCm39) |
V250M |
probably damaging |
Het |
| Or5af1 |
G |
A |
11: 58,722,813 (GRCm39) |
V278I |
probably benign |
Het |
| Or5b101 |
C |
A |
19: 13,005,004 (GRCm39) |
A230S |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,466 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pigu |
G |
T |
2: 155,120,549 (GRCm39) |
Y404* |
probably null |
Het |
| Plaa |
A |
T |
4: 94,472,244 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
T |
8: 118,313,296 (GRCm39) |
I487F |
probably damaging |
Het |
| Plekhh2 |
T |
C |
17: 84,867,580 (GRCm39) |
I162T |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,001,000 (GRCm39) |
V1030D |
probably benign |
Het |
| Raver2 |
C |
A |
4: 100,993,336 (GRCm39) |
S505R |
probably benign |
Het |
| Samd7 |
A |
T |
3: 30,810,769 (GRCm39) |
Q262L |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,377,447 (GRCm39) |
N412Y |
probably damaging |
Het |
| Sytl1 |
C |
A |
4: 132,986,667 (GRCm39) |
R91M |
probably damaging |
Het |
| Tead3 |
A |
T |
17: 28,555,244 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
A |
G |
14: 55,943,100 (GRCm39) |
M580T |
probably benign |
Het |
| Themis |
A |
T |
10: 28,657,882 (GRCm39) |
Q150L |
possibly damaging |
Het |
| Tmem213 |
T |
C |
6: 38,086,466 (GRCm39) |
S41P |
possibly damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,894,144 (GRCm39) |
V695A |
probably damaging |
Het |
| Trim23 |
A |
T |
13: 104,324,017 (GRCm39) |
T159S |
probably damaging |
Het |
| Troap |
A |
T |
15: 98,973,675 (GRCm39) |
T111S |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,720,734 (GRCm39) |
|
probably null |
Het |
| Tub |
T |
G |
7: 108,624,925 (GRCm39) |
S180A |
probably damaging |
Het |
| Vcan |
A |
G |
13: 89,851,231 (GRCm39) |
V1243A |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,942 (GRCm39) |
D215G |
possibly damaging |
Het |
| Zfp638 |
T |
A |
6: 83,944,345 (GRCm39) |
V1021E |
probably damaging |
Het |
| Zim1 |
T |
A |
7: 6,680,710 (GRCm39) |
I318F |
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 |
|
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'- AGGGTTTTGATACCTCACAGGAC -3'
(R):5'- GCTAAGCTTGAATTCTTCCCTGTG -3'
Sequencing Primer
(F):5'- GTTTTGATACCTCACAGGACAGAGC -3'
(R):5'- CCTGAGTGTCATCAGTTCCAAGAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation