Incidental Mutation 'IGL03135:Trim30a'
ID |
410482 |
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: 0.074)
|
Stock # |
IGL03135
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
104058232-104114400 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 104060348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 476
(V476A)
|
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: V476A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000076189 Gene: ENSMUSG00000030921 AA Change: V476A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125762
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211270
|
Meta Mutation Damage Score |
0.4097 |
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 |
Apmap |
A |
C |
2: 150,429,035 (GRCm39) |
M196R |
possibly damaging |
Het |
Arhgap27 |
T |
A |
11: 103,229,891 (GRCm39) |
|
probably null |
Het |
Arl8b |
A |
C |
6: 108,795,506 (GRCm39) |
N148T |
probably benign |
Het |
Baz1a |
A |
G |
12: 54,976,375 (GRCm39) |
F434L |
probably damaging |
Het |
Birc2 |
A |
G |
9: 7,849,722 (GRCm39) |
|
probably benign |
Het |
Brwd1 |
C |
A |
16: 95,822,458 (GRCm39) |
R1249I |
probably damaging |
Het |
Cab39l |
T |
C |
14: 59,757,100 (GRCm39) |
F161L |
probably benign |
Het |
Ccr8 |
A |
T |
9: 119,923,689 (GRCm39) |
D268V |
possibly damaging |
Het |
Col25a1 |
A |
T |
3: 130,323,332 (GRCm39) |
|
probably benign |
Het |
Cpn1 |
A |
G |
19: 43,974,693 (GRCm39) |
L12P |
possibly damaging |
Het |
Dnah6 |
A |
G |
6: 73,121,987 (GRCm39) |
I1360T |
probably benign |
Het |
Dnajb8 |
A |
G |
6: 88,200,013 (GRCm39) |
E183G |
probably damaging |
Het |
Dpp8 |
T |
A |
9: 64,960,322 (GRCm39) |
|
probably null |
Het |
Fsd1 |
C |
A |
17: 56,297,416 (GRCm39) |
|
probably null |
Het |
Grina |
T |
A |
15: 76,132,162 (GRCm39) |
F28I |
possibly damaging |
Het |
H2-M3 |
G |
A |
17: 37,583,324 (GRCm39) |
D262N |
possibly damaging |
Het |
Hdgfl3 |
G |
A |
7: 81,543,587 (GRCm39) |
T188M |
probably damaging |
Het |
Kif18b |
A |
G |
11: 102,805,086 (GRCm39) |
I353T |
probably damaging |
Het |
Lrrc41 |
C |
A |
4: 115,945,728 (GRCm39) |
R148S |
probably benign |
Het |
Lrrc8e |
T |
A |
8: 4,285,776 (GRCm39) |
L667Q |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,912,638 (GRCm39) |
F1641L |
probably benign |
Het |
Naaladl1 |
A |
T |
19: 6,162,386 (GRCm39) |
T443S |
probably benign |
Het |
Naga |
C |
A |
15: 82,214,942 (GRCm39) |
V339F |
probably damaging |
Het |
Nedd4l |
A |
G |
18: 65,338,741 (GRCm39) |
K702E |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
Parp14 |
A |
G |
16: 35,678,381 (GRCm39) |
M529T |
probably damaging |
Het |
Parp8 |
A |
G |
13: 117,047,478 (GRCm39) |
V198A |
probably benign |
Het |
Pcdhb19 |
A |
T |
18: 37,631,588 (GRCm39) |
H461L |
probably benign |
Het |
Ppp6r1 |
T |
C |
7: 4,645,159 (GRCm39) |
D236G |
possibly damaging |
Het |
Psg21 |
T |
C |
7: 18,388,843 (GRCm39) |
D83G |
probably benign |
Het |
Ptpru |
A |
G |
4: 131,546,111 (GRCm39) |
C308R |
probably damaging |
Het |
Ralgds |
T |
A |
2: 28,439,100 (GRCm39) |
S696T |
probably damaging |
Het |
Rttn |
T |
A |
18: 89,033,274 (GRCm39) |
L695Q |
probably damaging |
Het |
Scel |
A |
T |
14: 103,823,950 (GRCm39) |
I393F |
probably benign |
Het |
Serpina3j |
T |
A |
12: 104,281,166 (GRCm39) |
I113N |
probably damaging |
Het |
Slc4a3 |
C |
A |
1: 75,524,579 (GRCm39) |
|
probably benign |
Het |
Slc6a11 |
A |
T |
6: 114,171,570 (GRCm39) |
|
probably null |
Het |
Slc8a3 |
C |
T |
12: 81,249,023 (GRCm39) |
V802M |
probably damaging |
Het |
Smarcal1 |
T |
A |
1: 72,655,660 (GRCm39) |
|
probably null |
Het |
Tmprss11c |
A |
G |
5: 86,385,509 (GRCm39) |
V308A |
probably damaging |
Het |
Trim10 |
A |
G |
17: 37,185,113 (GRCm39) |
R279G |
possibly damaging |
Het |
Trio |
T |
C |
15: 27,832,097 (GRCm39) |
|
probably benign |
Het |
Urgcp |
G |
A |
11: 5,666,091 (GRCm39) |
T749I |
possibly damaging |
Het |
Vmn2r60 |
A |
G |
7: 41,786,018 (GRCm39) |
I274V |
probably benign |
Het |
Vps11 |
A |
G |
9: 44,267,653 (GRCm39) |
F40L |
probably benign |
Het |
Ywhab |
A |
G |
2: 163,857,195 (GRCm39) |
I157V |
probably benign |
Het |
Zfp638 |
G |
A |
6: 83,919,857 (GRCm39) |
R485H |
probably damaging |
Het |
Zfp944 |
A |
G |
17: 22,558,737 (GRCm39) |
I170T |
probably benign |
Het |
|
Other mutations in Trim30a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02677:Trim30a
|
APN |
7 |
104,085,120 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02944:Trim30a
|
APN |
7 |
104,084,984 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
2016-08-02 |