Incidental Mutation 'IGL02033:Trim44'
| ID |
184430 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim44
|
| Ensembl Gene |
ENSMUSG00000027189 |
| Gene Name |
tripartite motif-containing 44 |
| Synonyms |
DIPB, Mc7 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL02033
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
102130464-102231541 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102230521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 170
(M170T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102573]
[ENSMUST00000144110]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102573
AA Change: M170T
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099633
Gene: ENSMUSG00000027189
AA Change: M170T
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
57 |
2e-11 |
BLAST |
|
coiled coil region
|
125 |
153 |
N/A |
INTRINSIC |
|
BBOX
|
175 |
216 |
1.48e-7 |
SMART |
|
coiled coil region
|
295 |
326 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144110
|
| SMART Domains |
Protein: ENSMUSP00000119847
Gene: ENSMUSG00000027189
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
61 |
87 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000116958
Gene: ENSMUSG00000027189
AA Change: M27T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
BBOX
|
33 |
74 |
1.48e-7 |
SMART |
|
coiled coil region
|
126 |
157 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0725 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, namely a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,407,995 (GRCm39) |
F107L |
possibly damaging |
Het |
| Adam30 |
G |
T |
3: 98,068,787 (GRCm39) |
V79F |
probably benign |
Het |
| Akap8l |
T |
C |
17: 32,557,246 (GRCm39) |
R122G |
probably damaging |
Het |
| Apc |
T |
A |
18: 34,443,772 (GRCm39) |
S570R |
probably damaging |
Het |
| Btnl10 |
A |
G |
11: 58,810,141 (GRCm39) |
E94G |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,182,597 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
C |
2: 13,344,657 (GRCm39) |
I2208S |
probably damaging |
Het |
| Cyp17a1 |
A |
T |
19: 46,661,046 (GRCm39) |
Y79* |
probably null |
Het |
| Dach1 |
T |
A |
14: 98,138,865 (GRCm39) |
H474L |
possibly damaging |
Het |
| Dnai4 |
G |
T |
4: 102,923,490 (GRCm39) |
N123K |
possibly damaging |
Het |
| Dscaml1 |
A |
T |
9: 45,595,080 (GRCm39) |
I728F |
probably damaging |
Het |
| Erp29 |
G |
T |
5: 121,590,305 (GRCm39) |
S33R |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,826,648 (GRCm39) |
S4435A |
possibly damaging |
Het |
| Fbxw13 |
T |
C |
9: 109,010,484 (GRCm39) |
I385V |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,279,565 (GRCm39) |
M3160T |
probably benign |
Het |
| Lrrc28 |
C |
T |
7: 67,209,605 (GRCm39) |
|
probably null |
Het |
| Myh15 |
T |
C |
16: 48,965,707 (GRCm39) |
V1204A |
probably benign |
Het |
| Or5b104 |
T |
C |
19: 13,072,221 (GRCm39) |
S91G |
possibly damaging |
Het |
| Pcare |
T |
A |
17: 72,058,076 (GRCm39) |
I534F |
probably damaging |
Het |
| Pde5a |
G |
A |
3: 122,596,710 (GRCm39) |
E434K |
possibly damaging |
Het |
| Pgr |
T |
A |
9: 8,965,111 (GRCm39) |
V753E |
probably damaging |
Het |
| Pik3c3 |
T |
A |
18: 30,445,703 (GRCm39) |
S563R |
possibly damaging |
Het |
| Ppt2 |
A |
G |
17: 34,844,728 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,331,619 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
G |
T |
9: 72,852,683 (GRCm39) |
S290I |
possibly damaging |
Het |
| Ralgapa1 |
G |
T |
12: 55,689,262 (GRCm39) |
H1946N |
possibly damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,661,232 (GRCm39) |
|
probably benign |
Het |
| Sema4g |
G |
A |
19: 44,985,854 (GRCm39) |
R256H |
probably damaging |
Het |
| Slc22a12 |
T |
G |
19: 6,587,844 (GRCm39) |
D370A |
probably benign |
Het |
| Spata16 |
G |
A |
3: 26,967,483 (GRCm39) |
|
probably null |
Het |
| Trpv6 |
A |
T |
6: 41,604,551 (GRCm39) |
|
probably benign |
Het |
| Vwa8 |
T |
G |
14: 79,221,649 (GRCm39) |
L535R |
possibly damaging |
Het |
|
| Other mutations in Trim44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Trim44
|
APN |
2 |
102,134,824 (GRCm39) |
makesense |
probably null |
|
|
IGL01328:Trim44
|
APN |
2 |
102,230,365 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL01925:Trim44
|
APN |
2 |
102,230,362 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02138:Trim44
|
APN |
2 |
102,211,253 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL02824:Trim44
|
APN |
2 |
102,230,540 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0760:Trim44
|
UTSW |
2 |
102,230,905 (GRCm39) |
unclassified |
probably benign |
|
|
R1695:Trim44
|
UTSW |
2 |
102,187,830 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2008:Trim44
|
UTSW |
2 |
102,230,722 (GRCm39) |
unclassified |
probably benign |
|
|
R5366:Trim44
|
UTSW |
2 |
102,230,476 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7253:Trim44
|
UTSW |
2 |
102,177,313 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7812:Trim44
|
UTSW |
2 |
102,230,489 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8129:Trim44
|
UTSW |
2 |
102,230,848 (GRCm39) |
missense |
unknown |
|
|
R8387:Trim44
|
UTSW |
2 |
102,230,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Trim44
|
UTSW |
2 |
102,230,521 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9469:Trim44
|
UTSW |
2 |
102,230,651 (GRCm39) |
missense |
unknown |
|
|
R9470:Trim44
|
UTSW |
2 |
102,230,651 (GRCm39) |
missense |
unknown |
|
|
R9471:Trim44
|
UTSW |
2 |
102,230,651 (GRCm39) |
missense |
unknown |
|
|
R9562:Trim44
|
UTSW |
2 |
102,187,827 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9565:Trim44
|
UTSW |
2 |
102,187,827 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9711:Trim44
|
UTSW |
2 |
102,230,813 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation