Incidental Mutation 'IGL02304:Trim67'
| ID |
287517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim67
|
| Ensembl Gene |
ENSMUSG00000036913 |
| Gene Name |
tripartite motif-containing 67 |
| Synonyms |
D130049O21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
IGL02304
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
125519831-125561452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 125552691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 598
(D598N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041106]
[ENSMUST00000167588]
[ENSMUST00000211867]
|
| AlphaFold |
Q505D9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041106
AA Change: D598N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040601
Gene: ENSMUSG00000036913
AA Change: D598N
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
7 |
157 |
1.41e-4 |
SMART |
|
BBOX
|
198 |
248 |
4.65e-5 |
SMART |
|
BBOX
|
285 |
327 |
3.04e-9 |
SMART |
|
BBC
|
334 |
460 |
1.18e-28 |
SMART |
|
FN3
|
498 |
579 |
1.75e-6 |
SMART |
|
Pfam:SPRY
|
635 |
755 |
1.3e-13 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167588
AA Change: D598N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130343
Gene: ENSMUSG00000036913
AA Change: D598N
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
7 |
157 |
1.41e-4 |
SMART |
|
BBOX
|
198 |
248 |
4.65e-5 |
SMART |
|
BBOX
|
285 |
327 |
3.04e-9 |
SMART |
|
BBC
|
334 |
460 |
1.18e-28 |
SMART |
|
FN3
|
498 |
579 |
1.75e-6 |
SMART |
|
Pfam:SPRY
|
633 |
756 |
3.6e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211867
AA Change: D598N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
G |
T |
18: 69,083,122 (GRCm39) |
H31N |
unknown |
Het |
| Adamts8 |
A |
G |
9: 30,867,952 (GRCm39) |
N592S |
possibly damaging |
Het |
| Atp1a2 |
C |
A |
1: 172,116,920 (GRCm39) |
E232D |
probably benign |
Het |
| Cacnb3 |
A |
T |
15: 98,540,263 (GRCm39) |
D323V |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,848,687 (GRCm39) |
T456S |
probably benign |
Het |
| Cep162 |
A |
T |
9: 87,109,200 (GRCm39) |
|
probably benign |
Het |
| Clvs2 |
T |
C |
10: 33,404,443 (GRCm39) |
M258V |
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,805,613 (GRCm39) |
T1098A |
unknown |
Het |
| Foxs1 |
T |
C |
2: 152,774,270 (GRCm39) |
D261G |
probably benign |
Het |
| Gas2l2 |
T |
C |
11: 83,315,064 (GRCm39) |
|
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,722,625 (GRCm39) |
M98K |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,545 (GRCm38) |
|
noncoding transcript |
Het |
| Herc1 |
A |
G |
9: 66,383,696 (GRCm39) |
D3720G |
probably benign |
Het |
| Kcnh5 |
C |
T |
12: 75,023,471 (GRCm39) |
M532I |
probably benign |
Het |
| Kcnk18 |
T |
C |
19: 59,223,295 (GRCm39) |
Y147H |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,849,738 (GRCm39) |
F55Y |
probably damaging |
Het |
| Krt15 |
T |
A |
11: 100,024,503 (GRCm39) |
I278F |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,894,180 (GRCm39) |
Y395* |
probably null |
Het |
| Mcm3ap |
T |
A |
10: 76,320,572 (GRCm39) |
N843K |
possibly damaging |
Het |
| Mpdz |
T |
C |
4: 81,228,394 (GRCm39) |
K1337E |
possibly damaging |
Het |
| Mpdz |
G |
A |
4: 81,215,796 (GRCm39) |
|
probably benign |
Het |
| Ms4a6d |
T |
C |
19: 11,580,505 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
G |
T |
7: 97,726,943 (GRCm39) |
R922S |
possibly damaging |
Het |
| Nek1 |
G |
T |
8: 61,465,201 (GRCm39) |
G97C |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,967,448 (GRCm39) |
Y2963H |
probably damaging |
Het |
| Or4k44 |
T |
C |
2: 111,367,746 (GRCm39) |
N296S |
probably benign |
Het |
| Or4k6 |
T |
C |
14: 50,476,217 (GRCm39) |
N42D |
probably damaging |
Het |
| Or5w15 |
C |
T |
2: 87,568,330 (GRCm39) |
V113M |
probably benign |
Het |
| Prmt3 |
G |
A |
7: 49,476,485 (GRCm39) |
V365I |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,511,705 (GRCm39) |
T958A |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,167,164 (GRCm39) |
Y947H |
probably damaging |
Het |
| Pus10 |
C |
T |
11: 23,662,275 (GRCm39) |
S315L |
probably damaging |
Het |
| Rmi1 |
C |
A |
13: 58,557,290 (GRCm39) |
S513* |
probably null |
Het |
| Sec14l3 |
C |
T |
11: 4,024,768 (GRCm39) |
P239L |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,320,723 (GRCm39) |
T93A |
possibly damaging |
Het |
| Srsf3-ps |
C |
T |
11: 98,516,364 (GRCm39) |
R3H |
probably benign |
Het |
| Stat1 |
G |
A |
1: 52,171,703 (GRCm39) |
A125T |
probably benign |
Het |
| Tigd2 |
C |
T |
6: 59,188,683 (GRCm39) |
Q517* |
probably null |
Het |
| Trav13d-3 |
C |
T |
14: 53,270,837 (GRCm39) |
Q100* |
probably null |
Het |
| Trio |
A |
G |
15: 27,735,522 (GRCm39) |
L2856P |
probably damaging |
Het |
|
| Other mutations in Trim67 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00817:Trim67
|
APN |
8 |
125,541,799 (GRCm39) |
splice site |
probably benign |
|
|
IGL01676:Trim67
|
APN |
8 |
125,541,899 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01779:Trim67
|
APN |
8 |
125,554,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02057:Trim67
|
APN |
8 |
125,549,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02201:Trim67
|
APN |
8 |
125,520,797 (GRCm39) |
missense |
probably benign |
0.26 |
|
R0068:Trim67
|
UTSW |
8 |
125,521,307 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0241:Trim67
|
UTSW |
8 |
125,549,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0319:Trim67
|
UTSW |
8 |
125,549,966 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0471:Trim67
|
UTSW |
8 |
125,521,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1171:Trim67
|
UTSW |
8 |
125,555,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1175:Trim67
|
UTSW |
8 |
125,543,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1444:Trim67
|
UTSW |
8 |
125,549,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1596:Trim67
|
UTSW |
8 |
125,552,878 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1706:Trim67
|
UTSW |
8 |
125,521,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Trim67
|
UTSW |
8 |
125,521,406 (GRCm39) |
missense |
probably benign |
|
|
R5200:Trim67
|
UTSW |
8 |
125,551,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5787:Trim67
|
UTSW |
8 |
125,521,051 (GRCm39) |
nonsense |
probably null |
|
|
R6023:Trim67
|
UTSW |
8 |
125,541,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6290:Trim67
|
UTSW |
8 |
125,549,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6536:Trim67
|
UTSW |
8 |
125,521,081 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7315:Trim67
|
UTSW |
8 |
125,521,069 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7660:Trim67
|
UTSW |
8 |
125,547,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8432:Trim67
|
UTSW |
8 |
125,520,801 (GRCm39) |
small deletion |
probably benign |
|
|
R8446:Trim67
|
UTSW |
8 |
125,520,730 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8713:Trim67
|
UTSW |
8 |
125,547,074 (GRCm39) |
missense |
probably null |
0.06 |
|
R8897:Trim67
|
UTSW |
8 |
125,552,718 (GRCm39) |
missense |
probably benign |
|
|
R9322:Trim67
|
UTSW |
8 |
125,549,967 (GRCm39) |
nonsense |
probably null |
|
|
R9430:Trim67
|
UTSW |
8 |
125,552,956 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9542:Trim67
|
UTSW |
8 |
125,521,497 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Z1088:Trim67
|
UTSW |
8 |
125,543,780 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2015-04-16 |
Incidental Mutation