Incidental Mutation 'IGL01779:Trim67'
| ID |
153899 |
| 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 # |
IGL01779
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
125519831-125561452 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 125554860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 701
(G701R)
|
| 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: G701R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040601
Gene: ENSMUSG00000036913
AA Change: G701R
| 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 |
noncoding transcript
Transcript: ENSMUST00000161868
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167588
AA Change: G701R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130343
Gene: ENSMUSG00000036913
AA Change: G701R
| 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: G701R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
T |
5: 81,535,717 (GRCm39) |
I119F |
probably damaging |
Het |
| Akt1 |
C |
T |
12: 112,623,603 (GRCm39) |
G286R |
probably damaging |
Het |
| Apof |
A |
G |
10: 128,105,346 (GRCm39) |
I167V |
probably benign |
Het |
| Arhgap15 |
A |
G |
2: 43,955,057 (GRCm39) |
E220G |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,525,139 (GRCm39) |
Y31F |
possibly damaging |
Het |
| Clmn |
T |
C |
12: 104,748,399 (GRCm39) |
I383V |
probably benign |
Het |
| Cntnap5b |
A |
G |
1: 99,895,064 (GRCm39) |
D112G |
probably damaging |
Het |
| Col8a1 |
A |
T |
16: 57,448,726 (GRCm39) |
H261Q |
unknown |
Het |
| Csmd3 |
A |
T |
15: 47,721,290 (GRCm39) |
V1551D |
probably benign |
Het |
| Ddx60 |
G |
A |
8: 62,470,857 (GRCm39) |
V1450M |
possibly damaging |
Het |
| Ethe1 |
A |
T |
7: 24,294,434 (GRCm39) |
H79L |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm11110 |
C |
T |
17: 57,409,087 (GRCm39) |
|
probably benign |
Het |
| Hs1bp3 |
C |
T |
12: 8,391,945 (GRCm39) |
T349I |
probably benign |
Het |
| Ifna16 |
A |
T |
4: 88,594,882 (GRCm39) |
I71N |
probably damaging |
Het |
| Il18bp |
A |
G |
7: 101,666,002 (GRCm39) |
Y59H |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,979 (GRCm39) |
I511N |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,870,672 (GRCm39) |
M528V |
probably benign |
Het |
| Or52d1 |
A |
G |
7: 103,755,840 (GRCm39) |
D118G |
probably damaging |
Het |
| Pprc1 |
T |
A |
19: 46,050,641 (GRCm39) |
I52N |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,819,291 (GRCm39) |
|
probably benign |
Het |
| Rnf17 |
A |
T |
14: 56,699,520 (GRCm39) |
I553F |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,799,524 (GRCm39) |
H180Q |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc30a10 |
A |
T |
1: 185,196,376 (GRCm39) |
Q346L |
possibly damaging |
Het |
| Stambpl1 |
A |
T |
19: 34,217,427 (GRCm39) |
H422L |
possibly damaging |
Het |
| Vipr1 |
T |
C |
9: 121,493,696 (GRCm39) |
F249S |
probably damaging |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,215 (GRCm39) |
D397E |
probably benign |
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 |
|
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 |
|
IGL02304:Trim67
|
APN |
8 |
125,552,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-02-04 |
Incidental Mutation