Incidental Mutation 'IGL02677:Trim30a'
| ID |
303173 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trim30a
|
| Ensembl Gene |
ENSMUSG00000030921 |
| Gene Name |
tripartite motif-containing 30A |
| Synonyms |
Rpt-1, Rpt1, Trim30 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL02677
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104058232-104114400 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104085120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 30
(C30Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076922]
|
| AlphaFold |
P15533 |
| PDB Structure |
Solution structure of the Zinc finger, C3HC4 type (RING finger) domain Tripartite motif protein 30 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076922
AA Change: C30Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076189
Gene: ENSMUSG00000030921
AA Change: C30Y
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
15 |
58 |
2.88e-10 |
SMART |
|
BBOX
|
91 |
132 |
3.52e-14 |
SMART |
|
coiled coil region
|
173 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
255 |
265 |
N/A |
INTRINSIC |
|
Pfam:SPRY
|
349 |
493 |
1.6e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice show increased CD4/CD8 ratio with age, an abnormal CD4+ T cell response upon TCR activation, and reduced effector function of CD4+ T cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
G |
T |
7: 43,150,519 (GRCm39) |
Y84* |
probably null |
Het |
| Adam5 |
A |
G |
8: 25,302,395 (GRCm39) |
|
probably benign |
Het |
| Aipl1 |
T |
C |
11: 71,920,222 (GRCm39) |
E282G |
possibly damaging |
Het |
| Akp3 |
A |
G |
1: 87,052,994 (GRCm39) |
D61G |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,478 (GRCm39) |
S451P |
probably damaging |
Het |
| Csnka2ip |
A |
G |
16: 64,298,675 (GRCm39) |
L119P |
probably damaging |
Het |
| Ddx19a |
T |
C |
8: 111,716,241 (GRCm39) |
E53G |
probably benign |
Het |
| Ddx50 |
C |
T |
10: 62,452,072 (GRCm39) |
R116Q |
unknown |
Het |
| Ddx60 |
A |
T |
8: 62,441,166 (GRCm39) |
E1078D |
probably damaging |
Het |
| Dpy19l1 |
T |
C |
9: 24,396,368 (GRCm39) |
D116G |
probably damaging |
Het |
| Dsg4 |
A |
G |
18: 20,597,933 (GRCm39) |
T668A |
possibly damaging |
Het |
| Dspp |
A |
G |
5: 104,323,843 (GRCm39) |
T329A |
possibly damaging |
Het |
| Eftud2 |
T |
C |
11: 102,737,440 (GRCm39) |
T554A |
probably damaging |
Het |
| Enpp1 |
T |
C |
10: 24,555,083 (GRCm39) |
|
probably benign |
Het |
| Ext2 |
A |
T |
2: 93,537,590 (GRCm39) |
F599I |
probably damaging |
Het |
| Fahd1 |
A |
T |
17: 25,068,504 (GRCm39) |
I191N |
probably damaging |
Het |
| Fcrl2 |
A |
T |
3: 87,166,694 (GRCm39) |
S100T |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,692,883 (GRCm39) |
C181S |
probably damaging |
Het |
| Garre1 |
T |
A |
7: 33,941,834 (GRCm39) |
|
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,741 (GRCm39) |
I346V |
probably benign |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,513,224 (GRCm39) |
Y392H |
probably damaging |
Het |
| Klc2 |
T |
C |
19: 5,161,696 (GRCm39) |
Y298C |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,021,830 (GRCm39) |
V1011I |
probably benign |
Het |
| Ldb1 |
T |
C |
19: 46,024,594 (GRCm39) |
|
probably benign |
Het |
| Mcph1 |
A |
G |
8: 18,675,609 (GRCm39) |
K11E |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,861,513 (GRCm39) |
H374R |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,391,344 (GRCm39) |
Y853C |
probably damaging |
Het |
| Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
| Pakap |
C |
T |
4: 57,856,263 (GRCm39) |
P572S |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,726,943 (GRCm39) |
|
probably benign |
Het |
| Pde3a |
G |
A |
6: 141,350,898 (GRCm39) |
|
probably benign |
Het |
| Per1 |
T |
C |
11: 68,997,486 (GRCm39) |
V887A |
probably benign |
Het |
| Prokr1 |
G |
A |
6: 87,565,350 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,319,643 (GRCm39) |
I1021V |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,810,033 (GRCm39) |
E344G |
probably benign |
Het |
| Sec24c |
A |
T |
14: 20,739,710 (GRCm39) |
D529V |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,624,898 (GRCm39) |
V101A |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tap2 |
G |
A |
17: 34,431,021 (GRCm39) |
V374M |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,061,108 (GRCm39) |
D179E |
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,686,092 (GRCm39) |
L241P |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,640,149 (GRCm39) |
D160G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,601,840 (GRCm39) |
|
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,466,882 (GRCm39) |
R2849G |
probably damaging |
Het |
| Usp5 |
A |
G |
6: 124,796,389 (GRCm39) |
V570A |
probably damaging |
Het |
| Vipr1 |
T |
C |
9: 121,489,349 (GRCm39) |
|
probably benign |
Het |
| Zc2hc1c |
A |
C |
12: 85,336,850 (GRCm39) |
D169A |
probably benign |
Het |
|
| Other mutations in Trim30a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02944:Trim30a
|
APN |
7 |
104,084,984 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03135:Trim30a
|
APN |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB009:Trim30a
|
UTSW |
7 |
104,078,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB019:Trim30a
|
UTSW |
7 |
104,078,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0049:Trim30a
|
UTSW |
7 |
104,078,559 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0049:Trim30a
|
UTSW |
7 |
104,078,559 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0682:Trim30a
|
UTSW |
7 |
104,078,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Trim30a
|
UTSW |
7 |
104,085,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Trim30a
|
UTSW |
7 |
104,060,405 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1872:Trim30a
|
UTSW |
7 |
104,078,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1986:Trim30a
|
UTSW |
7 |
104,060,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1991:Trim30a
|
UTSW |
7 |
104,079,437 (GRCm39) |
splice site |
probably benign |
|
|
R2259:Trim30a
|
UTSW |
7 |
104,060,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2571:Trim30a
|
UTSW |
7 |
104,078,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3719:Trim30a
|
UTSW |
7 |
104,060,370 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3880:Trim30a
|
UTSW |
7 |
104,060,396 (GRCm39) |
missense |
probably benign |
|
|
R3910:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3911:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3912:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4343:Trim30a
|
UTSW |
7 |
104,084,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4572:Trim30a
|
UTSW |
7 |
104,060,395 (GRCm39) |
nonsense |
probably null |
|
|
R4587:Trim30a
|
UTSW |
7 |
104,084,851 (GRCm39) |
nonsense |
probably null |
|
|
R4997:Trim30a
|
UTSW |
7 |
104,060,827 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5051:Trim30a
|
UTSW |
7 |
104,060,913 (GRCm39) |
intron |
probably benign |
|
|
R5414:Trim30a
|
UTSW |
7 |
104,060,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5613:Trim30a
|
UTSW |
7 |
104,079,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Trim30a
|
UTSW |
7 |
104,070,657 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6262:Trim30a
|
UTSW |
7 |
104,060,741 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7133:Trim30a
|
UTSW |
7 |
104,078,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7222:Trim30a
|
UTSW |
7 |
104,070,639 (GRCm39) |
splice site |
probably null |
|
|
R7739:Trim30a
|
UTSW |
7 |
104,079,386 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7797:Trim30a
|
UTSW |
7 |
104,060,407 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7803:Trim30a
|
UTSW |
7 |
104,060,604 (GRCm39) |
nonsense |
probably null |
|
|
R7836:Trim30a
|
UTSW |
7 |
104,084,802 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7908:Trim30a
|
UTSW |
7 |
104,070,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7932:Trim30a
|
UTSW |
7 |
104,078,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7934:Trim30a
|
UTSW |
7 |
104,061,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8240:Trim30a
|
UTSW |
7 |
104,070,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8405:Trim30a
|
UTSW |
7 |
104,060,749 (GRCm39) |
nonsense |
probably null |
|
|
R8778:Trim30a
|
UTSW |
7 |
104,060,772 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8825:Trim30a
|
UTSW |
7 |
104,060,529 (GRCm39) |
nonsense |
probably null |
|
|
R9022:Trim30a
|
UTSW |
7 |
104,084,956 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9423:Trim30a
|
UTSW |
7 |
104,078,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9492:Trim30a
|
UTSW |
7 |
104,078,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0012:Trim30a
|
UTSW |
7 |
104,079,410 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Trim30a
|
UTSW |
7 |
104,084,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Trim30a
|
UTSW |
7 |
104,060,670 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation