Incidental Mutation 'IGL03077:Trim72'
| ID |
417739 |
| 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 # |
IGL03077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127603121-127610205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 127607013 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 181
(M181L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081042]
[ENSMUST00000106248]
|
| AlphaFold |
Q1XH17 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081042
AA Change: M181L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000079832
Gene: ENSMUSG00000042828
AA Change: M181L
| 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 benign
Transcript: ENSMUST00000106248
AA Change: M181L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101855
Gene: ENSMUSG00000042828
AA Change: M181L
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,308 (GRCm39) |
N135D |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,277,148 (GRCm39) |
L44P |
probably damaging |
Het |
| Angpt1 |
C |
A |
15: 42,339,818 (GRCm39) |
G298* |
probably null |
Het |
| Appl2 |
C |
T |
10: 83,457,623 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
A |
19: 41,769,760 (GRCm39) |
H341L |
probably benign |
Het |
| Chmp5 |
T |
C |
4: 40,952,438 (GRCm39) |
S98P |
probably benign |
Het |
| Chp1 |
A |
T |
2: 119,415,081 (GRCm39) |
Q161L |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,150,769 (GRCm39) |
V478A |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,242,279 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,461,809 (GRCm39) |
M210L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,166 (GRCm39) |
V244D |
probably damaging |
Het |
| Ftcd |
T |
C |
10: 76,417,461 (GRCm39) |
I300T |
probably damaging |
Het |
| Gm12886 |
C |
T |
4: 121,272,697 (GRCm39) |
|
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,030,765 (GRCm39) |
E92V |
probably null |
Het |
| Krt23 |
A |
G |
11: 99,374,700 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
T |
G |
4: 155,743,900 (GRCm39) |
R47S |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,286,315 (GRCm39) |
T728A |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,916,901 (GRCm39) |
N407S |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,412 (GRCm39) |
V411A |
probably benign |
Het |
| Or10ag56 |
T |
C |
2: 87,140,056 (GRCm39) |
*328Q |
probably null |
Het |
| Or4c12b |
A |
C |
2: 89,647,486 (GRCm39) |
D266A |
probably damaging |
Het |
| Otud4 |
T |
G |
8: 80,400,087 (GRCm39) |
S934A |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,093,983 (GRCm39) |
R213W |
probably damaging |
Het |
| Phrf1 |
A |
T |
7: 140,834,881 (GRCm39) |
K19* |
probably null |
Het |
| Prl3b1 |
A |
T |
13: 27,429,759 (GRCm39) |
M66L |
probably benign |
Het |
| Psmd7 |
T |
C |
8: 108,309,099 (GRCm39) |
T149A |
probably benign |
Het |
| Samd4b |
T |
C |
7: 28,105,868 (GRCm39) |
D450G |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Snrpa |
G |
A |
7: 26,891,186 (GRCm39) |
T95I |
probably benign |
Het |
| Traip |
A |
G |
9: 107,840,125 (GRCm39) |
|
probably benign |
Het |
| Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,594,212 (GRCm39) |
Y882H |
probably damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,363,316 (GRCm39) |
I146S |
probably benign |
Het |
| Vmn2r9 |
G |
T |
5: 108,996,173 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,688,246 (GRCm39) |
S854P |
probably benign |
Het |
| Wdfy1 |
T |
C |
1: 79,692,622 (GRCm39) |
K232E |
possibly damaging |
Het |
| Xpr1 |
A |
T |
1: 155,156,774 (GRCm39) |
D625E |
possibly damaging |
Het |
| Zbbx |
T |
A |
3: 74,989,153 (GRCm39) |
T317S |
possibly damaging |
Het |
|
| Other mutations in Trim72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02195:Trim72
|
APN |
7 |
127,607,136 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation