Incidental Mutation 'R7169:Trim66'
ID |
558124 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Trim66
|
Ensembl Gene |
ENSMUSG00000031026 |
Gene Name |
tripartite motif-containing 66 |
Synonyms |
Tif1d, D7H11orf29 |
MMRRC Submission |
045229-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R7169 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
109048213-109107341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109054328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1294
(V1294A)
|
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: V1192A
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000033339 Gene: ENSMUSG00000031026 AA Change: V1192A
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: V1192A
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000102350 Gene: ENSMUSG00000031026 AA Change: V1192A
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: V1294A
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000102352 Gene: ENSMUSG00000031026 AA Change: V1294A
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: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,040,707 (GRCm39) |
V870A |
probably damaging |
Het |
Ahi1 |
T |
G |
10: 20,930,918 (GRCm39) |
D919E |
probably damaging |
Het |
Angptl6 |
T |
A |
9: 20,786,475 (GRCm39) |
R390S |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,634,755 (GRCm39) |
I873V |
possibly damaging |
Het |
BC024063 |
T |
C |
10: 81,946,293 (GRCm39) |
Y638H |
possibly damaging |
Het |
Brsk1 |
T |
C |
7: 4,718,403 (GRCm39) |
S751P |
probably benign |
Het |
Calhm5 |
T |
A |
10: 33,968,160 (GRCm39) |
T298S |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 104,875,078 (GRCm39) |
A287T |
possibly damaging |
Het |
Clic3 |
G |
A |
2: 25,348,731 (GRCm39) |
R237H |
probably benign |
Het |
Cog6 |
G |
T |
3: 52,897,387 (GRCm39) |
P562H |
possibly damaging |
Het |
Csnk2a2 |
A |
G |
8: 96,215,006 (GRCm39) |
Y24H |
|
Het |
Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
Cyria |
A |
G |
12: 12,409,233 (GRCm39) |
D71G |
possibly damaging |
Het |
Dennd6b |
A |
T |
15: 89,073,055 (GRCm39) |
F161I |
possibly damaging |
Het |
Dnah14 |
G |
T |
1: 181,529,930 (GRCm39) |
V2235L |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,015,729 (GRCm39) |
V3636D |
probably damaging |
Het |
Dpm1 |
A |
T |
2: 168,053,343 (GRCm39) |
Y207* |
probably null |
Het |
Eml3 |
A |
G |
19: 8,910,828 (GRCm39) |
T227A |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Eppk1 |
C |
A |
15: 75,990,114 (GRCm39) |
A2256S |
probably benign |
Het |
Etnppl |
A |
T |
3: 130,414,345 (GRCm39) |
N80I |
probably damaging |
Het |
Eya4 |
A |
T |
10: 23,031,845 (GRCm39) |
N236K |
probably benign |
Het |
Gm12886 |
T |
G |
4: 121,273,948 (GRCm39) |
Q89H |
probably damaging |
Het |
Gsdme |
T |
C |
6: 50,204,358 (GRCm39) |
T200A |
probably benign |
Het |
Hipk1 |
C |
T |
3: 103,651,533 (GRCm39) |
A1122T |
probably benign |
Het |
Icos |
A |
G |
1: 61,034,705 (GRCm39) |
D176G |
probably damaging |
Het |
Igkv5-43 |
T |
A |
6: 69,800,519 (GRCm39) |
Y56F |
probably damaging |
Het |
Il1r1 |
T |
C |
1: 40,332,519 (GRCm39) |
|
probably null |
Het |
Ildr2 |
G |
A |
1: 166,135,503 (GRCm39) |
|
probably null |
Het |
Ilf3 |
T |
A |
9: 21,306,722 (GRCm39) |
H305Q |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,715,901 (GRCm39) |
H532R |
probably benign |
Het |
Lmbr1l |
CACTACATACTACATACTACATACTACATACTACATACTACATAC |
CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC |
15: 98,807,039 (GRCm39) |
|
probably null |
Het |
Lmbr1l |
ACTACAT |
ACTACATGCTACAT |
15: 98,807,075 (GRCm39) |
|
probably benign |
Het |
Lratd1 |
A |
G |
12: 14,200,619 (GRCm39) |
F36S |
probably damaging |
Het |
Lrrc25 |
T |
G |
8: 71,070,437 (GRCm39) |
S73A |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,544,565 (GRCm39) |
L121P |
probably damaging |
Het |
Ly6c1 |
C |
A |
15: 74,916,495 (GRCm39) |
V116L |
probably benign |
Het |
Meltf |
A |
G |
16: 31,698,980 (GRCm39) |
D30G |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,548,836 (GRCm39) |
D1009V |
probably damaging |
Het |
Mybpc3 |
T |
C |
2: 90,948,524 (GRCm39) |
V4A |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,497,636 (GRCm39) |
S979P |
possibly damaging |
Het |
Ntn5 |
C |
T |
7: 45,336,198 (GRCm39) |
R210* |
probably null |
Het |
Nuak1 |
T |
C |
10: 84,210,609 (GRCm39) |
D493G |
probably damaging |
Het |
Oprk1 |
T |
A |
1: 5,659,304 (GRCm39) |
D11E |
probably benign |
Het |
Or13a1 |
G |
T |
6: 116,471,025 (GRCm39) |
A152S |
probably benign |
Het |
Or4f14 |
A |
G |
2: 111,742,939 (GRCm39) |
M112T |
possibly damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,943 (GRCm39) |
Y60N |
probably damaging |
Het |
Or56a41 |
T |
C |
7: 104,740,397 (GRCm39) |
I150V |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
Pkm |
A |
G |
9: 59,578,908 (GRCm39) |
D296G |
possibly damaging |
Het |
Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
Pop5 |
T |
A |
5: 115,378,287 (GRCm39) |
V77E |
possibly damaging |
Het |
Ppp1r10 |
T |
C |
17: 36,240,365 (GRCm39) |
S552P |
probably damaging |
Het |
Rabggta |
C |
G |
14: 55,958,358 (GRCm39) |
R101P |
probably damaging |
Het |
Rorc |
A |
T |
3: 94,296,487 (GRCm39) |
E243V |
probably benign |
Het |
Setmar |
C |
A |
6: 108,042,049 (GRCm39) |
A3E |
possibly damaging |
Het |
Skor2 |
T |
A |
18: 76,948,681 (GRCm39) |
V801E |
probably benign |
Het |
Slc12a7 |
G |
A |
13: 73,932,679 (GRCm39) |
V56M |
probably benign |
Het |
Snph |
T |
A |
2: 151,436,307 (GRCm39) |
N207I |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,280,362 (GRCm39) |
V531A |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tlr3 |
A |
T |
8: 45,850,056 (GRCm39) |
M871K |
probably damaging |
Het |
Tnfrsf11a |
A |
T |
1: 105,772,421 (GRCm39) |
R569S |
possibly damaging |
Het |
Vldlr |
G |
A |
19: 27,221,728 (GRCm39) |
V698I |
probably benign |
Het |
Vmn2r73 |
G |
A |
7: 85,507,663 (GRCm39) |
Q550* |
probably null |
Het |
Zdhhc5 |
A |
T |
2: 84,532,675 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
A |
8: 109,678,030 (GRCm39) |
Y3027N |
possibly damaging |
Het |
Zfp663 |
C |
T |
2: 165,194,359 (GRCm39) |
S620N |
probably benign |
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 |
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'- AGTACCACTCTGTCCTGTGC -3'
(R):5'- AGTCAGGCTTGTACTTCCCG -3'
Sequencing Primer
(F):5'- GCTCTCCATATCCTCCCAGGTG -3'
(R):5'- TCCTGATGGAGGGCACAAG -3'
|
Posted On |
2019-06-26 |