Incidental Mutation 'IGL02195:Trim72'
| ID |
284038 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim72
|
| Ensembl Gene |
ENSMUSG00000042828 |
| Gene Name |
tripartite motif-containing 72 |
| Synonyms |
MG53, mitsugumin 53 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL02195
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127603121-127610205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127607136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 222
(M222L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081042]
[ENSMUST00000106248]
|
| AlphaFold |
Q1XH17 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081042
AA Change: M222L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000079832
Gene: ENSMUSG00000042828
AA Change: M222L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
14 |
56 |
5.14e-7 |
SMART |
|
BBOX
|
81 |
122 |
3.89e-7 |
SMART |
|
coiled coil region
|
135 |
169 |
N/A |
INTRINSIC |
|
coiled coil region
|
204 |
232 |
N/A |
INTRINSIC |
|
PRY
|
288 |
341 |
6.48e-13 |
SMART |
|
Pfam:SPRY
|
342 |
472 |
4.9e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106248
AA Change: M222L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101855
Gene: ENSMUSG00000042828
AA Change: M222L
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
14 |
56 |
5.14e-7 |
SMART |
|
BBOX
|
81 |
122 |
3.89e-7 |
SMART |
|
coiled coil region
|
135 |
169 |
N/A |
INTRINSIC |
|
coiled coil region
|
204 |
232 |
N/A |
INTRINSIC |
|
PRY
|
288 |
341 |
6.48e-13 |
SMART |
|
Pfam:SPRY
|
344 |
465 |
1.7e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206216
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice with disruption of this gene display muscle pathologies that develop with age. Mice homozygous for a knock-out allele exhibit enhanced myogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
G |
T |
7: 79,476,433 (GRCm39) |
A65D |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 75,004,376 (GRCm39) |
|
probably benign |
Het |
| Car11 |
G |
T |
7: 45,350,716 (GRCm39) |
V71L |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,708,367 (GRCm39) |
Y123C |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,336,545 (GRCm39) |
V52M |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,219 (GRCm39) |
C560S |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,755 (GRCm39) |
Y170F |
probably benign |
Het |
| Ighv1-54 |
A |
T |
12: 115,157,570 (GRCm39) |
S26T |
possibly damaging |
Het |
| Ints8 |
A |
T |
4: 11,221,222 (GRCm39) |
W718R |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,798,242 (GRCm39) |
|
probably benign |
Het |
| Kif4 |
T |
C |
X: 99,769,822 (GRCm39) |
F1154S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,267,970 (GRCm39) |
C253R |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,917,549 (GRCm39) |
S149G |
probably benign |
Het |
| Lonrf1 |
G |
A |
8: 36,687,102 (GRCm39) |
R745* |
probably null |
Het |
| Manea |
A |
C |
4: 26,340,628 (GRCm39) |
Y111* |
probably null |
Het |
| Map2k1 |
A |
G |
9: 64,101,090 (GRCm39) |
I196T |
probably benign |
Het |
| Matn4 |
T |
C |
2: 164,242,972 (GRCm39) |
D42G |
probably damaging |
Het |
| Meioc |
C |
A |
11: 102,565,683 (GRCm39) |
T433K |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,013,946 (GRCm39) |
V204A |
probably damaging |
Het |
| Nus1 |
A |
G |
10: 52,309,465 (GRCm39) |
D91G |
probably damaging |
Het |
| Or8a1b |
A |
G |
9: 37,623,417 (GRCm39) |
S53P |
probably benign |
Het |
| Pisd |
A |
G |
5: 32,894,659 (GRCm39) |
L549P |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
| Prdm15 |
A |
G |
16: 97,637,029 (GRCm39) |
V96A |
probably damaging |
Het |
| Prune2 |
C |
A |
19: 17,096,921 (GRCm39) |
D808E |
probably benign |
Het |
| Sema5b |
G |
A |
16: 35,480,849 (GRCm39) |
|
probably null |
Het |
| Shank3 |
A |
T |
15: 89,432,321 (GRCm39) |
Q947L |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,201,882 (GRCm39) |
E616G |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,376 (GRCm39) |
H519R |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,462 (GRCm39) |
L148P |
probably damaging |
Het |
| Syde2 |
A |
G |
3: 145,707,911 (GRCm39) |
T617A |
probably damaging |
Het |
| Tmem139 |
G |
T |
6: 42,240,901 (GRCm39) |
R162L |
probably damaging |
Het |
|
| Other mutations in Trim72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02538:Trim72
|
APN |
7 |
127,603,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02794:Trim72
|
APN |
7 |
127,603,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03077:Trim72
|
APN |
7 |
127,607,013 (GRCm39) |
missense |
probably benign |
|
|
H8786:Trim72
|
UTSW |
7 |
127,603,963 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1101:Trim72
|
UTSW |
7 |
127,609,419 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1711:Trim72
|
UTSW |
7 |
127,603,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Trim72
|
UTSW |
7 |
127,607,016 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R1853:Trim72
|
UTSW |
7 |
127,608,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1854:Trim72
|
UTSW |
7 |
127,608,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2513:Trim72
|
UTSW |
7 |
127,603,878 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4163:Trim72
|
UTSW |
7 |
127,607,080 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4587:Trim72
|
UTSW |
7 |
127,607,164 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5027:Trim72
|
UTSW |
7 |
127,607,137 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5067:Trim72
|
UTSW |
7 |
127,609,139 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5276:Trim72
|
UTSW |
7 |
127,603,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5290:Trim72
|
UTSW |
7 |
127,609,176 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5339:Trim72
|
UTSW |
7 |
127,609,505 (GRCm39) |
missense |
probably benign |
|
|
R5410:Trim72
|
UTSW |
7 |
127,609,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6301:Trim72
|
UTSW |
7 |
127,603,786 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6594:Trim72
|
UTSW |
7 |
127,609,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6774:Trim72
|
UTSW |
7 |
127,609,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7162:Trim72
|
UTSW |
7 |
127,606,821 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7372:Trim72
|
UTSW |
7 |
127,603,858 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7937:Trim72
|
UTSW |
7 |
127,609,491 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9228:Trim72
|
UTSW |
7 |
127,608,315 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9364:Trim72
|
UTSW |
7 |
127,609,173 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9668:Trim72
|
UTSW |
7 |
127,609,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation